Narrativa gerada: CodeSystem orphanet-rare-disease-classification Propriedades Este sistema de códigos define as seguintes propriedades para os seus conceitos Nome Código URI Tipo Descrição Parent parent http://hl7.org/fhir/concept-properties#parent code Parent concept in the classification hierarchy disorderType disorderType https://www.orpha.net/ORDO/Orphanet_C019 string Type of Orphanet disorder (Disease, Clinical group, Category, Etiological subtype, Clinical subtype, Malformation syndrome, etc.) Conceitos Este sistema de código https://www.orpha.net/ORDO/Orphanet_ define o seguinte códigos numa hierarquia Is-A: Código Ecrã Parent disorderType 97929 Rare cardiac disease Category 167848 Rare cardiomyopathy 97929 Category 247 Inherited arrhythmogenic cardiomyopathy 167848, 506225, 98054 Clinical group 34217 Naxos disease 247, 307804, 434809 Disease 217656 Inherited isolated arrhythmogenic cardiomyopathy 247, 300755 Disease 293888 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant 217656 Clinical subtype 293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant 217656 Clinical subtype 293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant 217656 Clinical subtype 217569 Rare hypertrophic cardiomyopathy 167848, 506225 Category 99739 Rare familial disorder with hypertrophic cardiomyopathy 217569, 98054 Category 217572 Glycogen storage disease with hypertrophic cardiomyopathy 99739 Category 439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease 217572, 79201 Disease 365 Glycogen storage disease due to acid maltase deficiency 206959, 217572, 217581, 217638, 309337, 79201 Disease 308552 Glycogen storage disease due to acid maltase deficiency, infantile onset 365 Clinical subtype 420429 Glycogen storage disease due to acid maltase deficiency, late-onset 365 Clinical subtype 366 Glycogen storage disease due to glycogen debranching enzyme deficiency 101940, 206959, 217572, 79201 Disease 34587 Danon disease 206959, 217572, 217607, 309337, 611314, 79201 Disease 137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency 217572, 308520 Disease 217581 Lysosomal disease with hypertrophic cardiomyopathy 99739 Category 118 Beta-mannosidosis 207018, 217581, 611314, 79215, 93448 Disease 349 Fucosidosis 217581, 611314, 79215, 93448 Disease 324 Fabry disease 139009, 183478, 207018, 217581, 217638, 371442, 506213, 568047, 79225, 79379, 93593, 98644 Disease 580 Mucopolysaccharidosis type 2 217581, 611314, 68385, 79213, 79388, 93448, 98578 Disease 217085 Mucopolysaccharidosis type 2, severe form 580 Clinical subtype 217093 Mucopolysaccharidosis type 2, attenuated form 580 Clinical subtype 93473 Hurler syndrome 102283, 217581, 217638, 579, 611327 Clinical subtype 93476 Hurler-Scheie syndrome 217581, 579 Clinical subtype 217587 Mitochondrial disease with hypertrophic cardiomyopathy 99739 Category 550 MELAS 206966, 217587, 217613, 225700, 225703, 254776, 519343, 522508, 611314, 68385, 90642 Disease 551 MERRF 206966, 217587, 217613, 225700, 225703, 254776, 441434, 68385, 98261 Disease 1349 Mitochondrial DNA-related cardiomyopathy and hearing loss 217587, 254776 Malformation syndrome 1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome 217587, 254830, 352312, 522520, 522548, 98641, 98683 Disease 99718 Leber plus disease 217587, 217613, 254776, 98671 Disease 314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency 217587, 35696 Disease 319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome 217587, 35656 Disease 324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation 183592, 217587, 254776, 93593, 93603 Disease 352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency 217587, 35696 Disease 369913 Combined oxidative phosphorylation defect type 17 217587, 35696 Disease 444013 Combined oxidative phosphorylation defect type 23 217587, 35696, 611314, 68385 Disease 496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome 207018, 217587, 254837, 441434, 611314 Disease 457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome 217587, 35656 Disease 570491 QRSL1-related combined oxidative phosphorylation defect 217587, 35696 Disease 656279 1p36.33 duplication syndrome 217587, 254837, 264431, 68385 Disease 217591 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy 99739 Category 746 Mitochondrial trifunctional protein deficiency 206966, 207018, 217591, 309115 Disease 159 Carnitine-acylcarnitine translocase deficiency 217591, 309130, 611314 Disease 5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency 181402, 207018, 217591, 309127, 716405 Disease 26791 Multiple acyl-CoA dehydrogenase deficiency 206953, 217591, 309120 Disease 394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type 26791 Clinical subtype 394532 Multiple acyl-CoA dehydrogenase deficiency, mild type 26791 Clinical subtype 26793 Very long chain acyl-CoA dehydrogenase deficiency 206953, 217591, 309120 Disease 99901 Acyl-CoA dehydrogenase 9 deficiency 217591, 217616, 254843 Disease 217595 Syndrome associated with hypertrophic cardiomyopathy 99739 Category 95 Friedreich ataxia 207028, 217595, 519341, 522506, 68385, 98098 Disease 273 Steinert myotonic dystrophy 206647, 217595, 519347, 522522, 98033, 98578, 98648 Disease 589824 Childhood-onset Steinert myotonic dystrophy 273, 611314 Clinical subtype 589827 Juvenile-onset Steinert myotonic dystrophy 273, 611314 Clinical subtype 589830 Adult-onset Steinert myotonic dystrophy 273, 611314 Clinical subtype 589833 Late-onset Steinert myotonic dystrophy 273 Clinical subtype 589821 Congenital-onset Steinert myotonic dystrophy 273, 611314 Clinical subtype 116 Beckwith-Wiedemann syndrome 156207, 156237, 183422, 217595, 319328, 641343, 93460, 93547 Malformation syndrome 96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication 116, 262785 Etiological subtype 96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11 116, 98154 Etiological subtype 231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15 116 Etiological subtype 231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation 116 Etiological subtype 231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion 116, 261947 Etiological subtype 231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion 116, 263708 Etiological subtype 91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome 217595, 254830 Disease 228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome 101934, 217595, 90642 Disease 399058 Alpha-B crystallin-related late-onset myopathy 206650, 217595, 98910 Disease 98909 Desminopathy 206650, 206662, 209041, 217595, 217610, 217635, 593 Disease 3071 Costello syndrome 102283, 139027, 183422, 217595, 228215, 477771, 611327, 98733 Malformation syndrome 2701 Noonan syndrome-like disorder with loose anagen hair 102283, 217595, 481771, 611327, 79364, 98576, 98733 Malformation syndrome 648 Noonan syndrome 102283, 139393, 181441, 183422, 217595, 477771, 568047, 611327, 619340, 93547, 98576, 98578, 98733 Malformation syndrome 500 Noonan syndrome with multiple lentigines 102285, 139027, 183422, 183466, 217595, 330206, 619340, 79375, 90642, 98196, 98733 Malformation syndrome 363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia 183422, 217595, 477771, 98733 Malformation syndrome 1340 Cardiofaciocutaneous syndrome 102283, 217595, 568047, 611327, 79373, 98733 Malformation syndrome 693647 Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome 217595, 229720, 331184 Disease 217598 Non-familial hypertrophic cardiomyopathy 217569 Category 1926 Diabetic embryopathy 138059, 217598, 251535, 93460 Malformation syndrome 85443 AL amyloidosis 209013, 217598, 217720, 506210, 567558, 69, 98282 Disease 314701 Primary systemic amyloidosis 85443 Clinical subtype 314709 Primary localized amyloidosis 85443 Clinical subtype 217604 Dilated cardiomyopathy 167848 Category 217607 Familial dilated cardiomyopathy 217604, 98054 Category 2119 HEC syndrome 217607, 217635, 217720, 324767 Malformation syndrome 367 Glycogen storage disease due to glycogen branching enzyme deficiency 101940, 206959, 217607, 506210, 506225, 79201 Disease 206583 Adult polyglucosan body disease 207018, 367 Clinical subtype 308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form 367 Clinical subtype 308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form 367 Clinical subtype 308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form 367 Clinical subtype 308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form 367 Clinical subtype 308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form 367 Clinical subtype 308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form 367 Clinical subtype 308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form 367 Clinical subtype 154 Familial isolated dilated cardiomyopathy 207085, 217607, 506225 Disease 217610 Neuromuscular disease with dilated cardiomyopathy 217607, 506225 Category 262 Duchenne and Becker muscular dystrophy 206644, 217610 Clinical group 98895 Becker muscular dystrophy 207085, 262 Disease 98896 Duchenne muscular dystrophy 207085, 262, 519347, 522522, 611314 Disease 206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers 207085, 262 Disease 261 Emery-Dreifuss muscular dystrophy 206644, 217610, 611314 Disease 98853 Autosomal dominant Emery-Dreifuss muscular dystrophy 261, 300755 Etiological subtype 98855 Autosomal recessive Emery-Dreifuss muscular dystrophy 261, 300755 Etiological subtype 98863 X-linked Emery-Dreifuss muscular dystrophy 209188, 261 Etiological subtype 62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 102015, 207060, 217610 Disease 119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 102015, 207063, 217610 Disease 353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 102015, 207067, 217610 Disease 219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 102015, 207070, 217610 Disease 206554 Fukutin-related limb-girdle muscular dystrophy R13 102015, 207122, 217610, 309469, 371047, 371176 Disease 289377 Early-onset myopathy with fatal cardiomyopathy 206656, 209053, 217610 Disease 397937 Polyglucosan body myopathy type 1 206959, 217610, 68385, 79201 Disease 217613 Mitochondrial disease with dilated cardiomyopathy 217607, 506225 Category 480 Kearns-Sayre syndrome 181402, 206966, 217613, 225700, 225703, 254767, 519347, 522522, 68385, 716405, 90642 Disease 111 Barth syndrome 206966, 217613, 289902, 331184, 352312 Disease 137675 Histiocytoid cardiomyopathy 101934, 217613, 254837 Disease 217616 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy 217607, 506225 Category 158 Systemic primary carnitine deficiency 206953, 217616, 309130 Disease 217619 Syndrome associated with dilated cardiomyopathy 217607, 506225 Category 64 Alström syndrome 156162, 156165, 181376, 183592, 183625, 217619, 240371, 506213, 522548, 611314, 716405, 90642, 93603, 98641 Disease 1345 Cardiomyopathy-cataract-hip spine disease syndrome 217619, 522548, 98641 Disease 1493 Vici syndrome 102283, 102285, 183469, 199639, 217619, 269523, 269567, 269573, 330206, 331217, 522548, 611327, 79376, 98641 Malformation syndrome 1606 1p36 deletion syndrome 166469, 217619, 261857 Malformation syndrome 2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome 181441, 217619, 300755 Malformation syndrome 2515 Microcephaly-cardiomyopathy syndrome 102283, 217619, 269528, 611327 Malformation syndrome 59306 McLeod neuroacanthocytosis syndrome 217619, 225713, 263440, 68385, 98366 Disease 65282 Carvajal syndrome 217619, 434809, 79373, 98027, 98357 Disease 66634 Dilated cardiomyopathy with ataxia 217619, 289902, 611314 Disease 73224 Kidney tubulopathy-dilated cardiomyopathy syndrome 183592, 217619, 93603 Disease 79159 Isobutyryl-CoA dehydrogenase deficiency 217619, 79163 Disease 168796 Heart-hand syndrome, Slovenian type 101934, 217619, 228184, 300755 Malformation syndrome 217622 Sensorineural deafness with dilated cardiomyopathy 217619 Disease 476096 Erythrokeratodermia-cardiomyopathy syndrome 183438, 217619, 77830, 79355, 98027 Disease 2663 Nathalie syndrome 217619, 522548, 90642, 98641 Malformation syndrome 300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation 217607, 300755, 506225 Disease 371176 Congenital disorder of glycosylation with dilated cardiomyopathy 217607, 506225 Category 91131 DK1-CDG 281244, 309526, 371176, 371200 Disease 263494 DPM3-CDG 309526, 370953, 371047, 371176, 611314 Disease 319646 PGM1-CDG 309347, 371157, 371176, 79201 Disease 217629 Non-familial dilated cardiomyopathy 217604 Category 2022 Endocardial fibroelastosis 217629, 217720, 506225 Disease 563 Peripartum cardiomyopathy 163637, 217629, 506225 Disease 324767 Non-familial rare disease with dilated cardiomyopathy 217629, 506225 Category 183 Eosinophilic granulomatosis with polyangiitis 156152, 209007, 324767, 567560 Disease 217632 Restrictive cardiomyopathy 167848 Category 217635 Familial restrictive cardiomyopathy 217632, 98054 Category 1344 Isolated atrial standstill 101934, 217635 Disease 758 Pseudoxanthoma elasticum 139027, 139030, 156629, 183503, 217635, 228215, 506213, 71281, 716427 Disease 75249 Familial isolated restrictive cardiomyopathy 217635, 506225 Disease 271861 Hereditary ATTR amyloidosis 217635, 444116, 506210, 69, 716446 Disease 85451 ATTRV122I amyloidosis 271861, 506225 Clinical subtype 85447 ATTRV30M amyloidosis 207021, 271861 Clinical subtype 217638 Lysosomal disease with restrictive cardiomyopathy 217635, 506225 Category 77259 Gaucher disease type 1 217638, 264968, 355, 399185, 716405, 98544 Clinical subtype 217720 Non-familial restrictive cardiomyopathy 217632 Category 797 Sarcoidosis 166484, 182222, 209007, 217720, 264745, 280373, 280926, 280930, 280933, 324930, 567558, 95617 Disease 75565 Tropical endomyocardial fibrosis 217720 Disease 75566 Loeffler endocarditis 217720 Disease 85445 AA amyloidosis 209013, 217720, 567558, 69 Disease 90291 Systemic sclerosis 101944, 182228, 217720, 280373, 567558, 801 Disease 220393 Diffuse cutaneous systemic sclerosis 90291 Clinical subtype 220402 Limited cutaneous systemic sclerosis 90291 Clinical subtype 220407 Limited systemic sclerosis 90291 Clinical subtype 168956 Hypereosinophilic syndrome 217720, 98274 Clinical group 314962 Secondary hypereosinophilic syndrome 168956 Disease 314970 Lymphocytic hypereosinophilic syndrome 314962 Clinical subtype 3260 Idiopathic hypereosinophilic syndrome 168956 Disease 314950 Primary hypereosinophilic syndrome 168956 Disease 570762 Infective endocarditis 163582, 163591, 217720 Disease 330001 Wild type ATTR amyloidosis 217720, 506210, 69 Disease 217678 Unclassified cardiomyopathy 167848 Category 692305 Triglyceride deposit cardiomyovasculopathy 165, 217678, 506225 Disease 692296 Idiopathic triglyceride deposit cardiomyovasculopathy 692305 Etiological subtype 565612 Primary triglyceride deposit cardiomyovasculopathy 692305 Etiological subtype 3403 Uhl anomaly 217678 Morphological anomaly 54260 Left ventricular noncompaction 217678, 300755, 477805 Disease 66529 Tako-Tsubo cardiomyopathy 217678 Disease 478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome 217678, 2443, 522548, 68385, 98054, 98641 Disease 329874 Idiopathic giant cell myocarditis 167848 Disease 168194 Rare cardiac tumor 97929, 98057 Category 1359 Carney complex 100091, 100094, 168194, 183466, 271841, 314749, 79375 Disease 615 Familial atrial myxoma 168194, 271841 Disease 874 Primary adult heart tumor 168194 Disease 875 Primary pediatric heart tumor 168194 Disease 319340 Carney complex-trismus-pseudocamptodactyly syndrome 168194, 183466, 228184, 271841, 79375 Disease 685004 Primary pericardial mesothelioma 168194 Disease 218436 Rare cardiac rhythm disease 97929 Category 101934 Genetic cardiac rhythm disease 218436, 98054 Category 768 Congenital long QT syndrome 101934 Clinical group 65283 Timothy syndrome 180772, 611314, 768 Malformation syndrome 595098 Timothy syndrome type 1 65283 Clinical subtype 595105 Timothy syndrome type 2 65283 Clinical subtype 595109 Atypical Timothy syndrome 65283 Clinical subtype 90647 Jervell and Lange-Nielsen syndrome 768, 90642 Disease 101016 Romano-Ward syndrome 768 Disease 871 Hereditary progressive cardiac conduction defect 101934 Disease 392 Holt-Oram syndrome 101934, 102285, 156532, 228184, 294955, 330206, 404574 Malformation syndrome 1342 Heart-hand syndrome type 3 101934, 102285, 228184, 330206 Malformation syndrome 1350 Heart-hand syndrome type 2 101934, 102285, 228184, 330206 Malformation syndrome 2946 Brachydactyly-long thumb syndrome 101934, 228184, 498454 Malformation syndrome 1479 Atrial septal defect-atrioventricular conduction defects syndrome 101934, 156532 Malformation syndrome 3283 His bundle tachycardia 101934 Disease 3286 Catecholaminergic polymorphic ventricular tachycardia 101934 Disease 130 Brugada syndrome 101934 Disease 334 Hereditary atrial fibrillation 101934 Disease 37553 Andersen-Tawil syndrome 101934, 206976, 371433, 98741 Disease 51083 Congenital short QT syndrome 101934 Disease 51084 Torsade-de-pointes syndrome with short coupling interval 101934 Disease 60041 Congenital heart block 101934 Disease 166282 Hereditary sick sinus syndrome 101934 Disease 228140 Idiopathic ventricular fibrillation 101934 Disease 324321 Sinoatrial node dysfunction and deafness 101934, 90642 Disease 324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome 101934, 611314 Disease 435988 Chronic atrial and intestinal dysrhythmia syndrome 101934, 117569, 165655 Disease 436242 Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease 101934 Disease 480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome 101934, 182070, 183500, 225713, 611314 Disease 542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome 101934, 611314 Disease 476084 BVES-related limb-girdle muscular dystrophy 101934, 102015 Disease 218439 Non-genetic cardiac rhythm disease 218436 Category 3282 Multifocal atrial tachycardia 218439 Disease 45452 Idiopathic neonatal atrial flutter 218439 Disease 45453 Incessant infant ventricular tachycardia 218439 Disease 363618 LMNA-related cardiocutaneous progeria syndrome 300766, 79389, 97929, 98054 Disease 97292 Cardiogenic shock 97929 Particular clinical situation in a disease or syndrome 458718 Idiopathic spontaneous coronary artery dissection 97929 Disease 263352 Postcardiotomy right ventricular failure 97929 Particular clinical situation in a disease or syndrome 93890 Rare developmental defect during embryogenesis Category 1041 Hydrops fetalis 93890 Malformation syndrome 363999 Non-immune hydrops fetalis 1041, 183530 Clinical subtype 364013 Immune hydrops fetalis 1041 Clinical subtype 93545 Renal or urinary tract malformation 93626, 93890 Category 93546 Non-syndromic renal or urinary tract malformation 506213, 93545 Category 1851 Multicystic dysplastic kidney 357506, 93546 Morphological anomaly 97363 Unilateral multicystic dysplastic kidney 1851 Clinical subtype 97364 Bilateral multicystic dysplastic kidney 1851 Clinical subtype 322 Exstrophy-epispadias complex 108977, 182124, 357506, 93546 Malformation syndrome 93928 Isolated epispadias 322 Clinical subtype 93929 Cloacal exstrophy 117573, 322 Clinical subtype 93930 Classic bladder exstrophy 322 Clinical subtype 3033 Renal tubular dysgenesis 93546 Malformation syndrome 97367 Renal tubular dysgenesis due to twin-twin transfusion 3033 Etiological subtype 97368 Drug-related renal tubular dysgenesis 3033 Etiological subtype 97369 Renal tubular dysgenesis of genetic origin 3033, 357506 Etiological subtype 1309 Medullary sponge kidney 357506, 93546 Morphological anomaly 2260 Oligomeganephronia 93546 Morphological anomaly 237 Duplication of urethra 182124, 357506, 93546 Morphological anomaly 617 Congenital primary megaureter 182124, 357506, 93546 Morphological anomaly 238642 Primary megaureter, adult-onset form 617 Clinical subtype 238646 Congenital primary megaureter, obstructed form 617 Clinical subtype 238650 Congenital primary megaureter, refluxing form 617 Clinical subtype 238654 Congenital primary megaureter, nonrefluxing and unobstructed form 617 Clinical subtype 544578 Congenital primary megaureter, refluxing and obstructed form 617 Clinical subtype 93101 Renal hypoplasia 357506, 93546 Morphological anomaly 97361 Renal hypoplasia, unilateral 93101 Clinical subtype 97362 Renal hypoplasia, bilateral 93101 Clinical subtype 93108 Renal dysplasia 357506, 93546 Morphological anomaly 93172 Renal dysplasia, unilateral 93108 Clinical subtype 93173 Renal dysplasia, bilateral 93108 Clinical subtype 93109 Congenital megacalycosis 93546 Morphological anomaly 93176 Unilateral congenital megacalycosis 93109 Clinical subtype 93177 Congenital bilateral megacalycosis 93109 Clinical subtype 238637 Megacystis-megaureter syndrome 93546 Disease 411709 Renal agenesis 357506, 93546 Morphological anomaly 1848 Renal agenesis, bilateral 411709 Clinical subtype 93100 Renal agenesis, unilateral 411709 Clinical subtype 435365 Fetal lower urinary tract obstruction 182124, 357506, 93546 Clinical group 2970 Prune belly syndrome 435365 Malformation syndrome 105 Atresia of urethra 435365 Morphological anomaly 93110 Posterior urethral valve 435365 Morphological anomaly 435372 Anterior urethral valve 435365 Morphological anomaly 435743 Congenital urachal anomaly 182124, 93546 Category 488 Urachal cyst 435743 Morphological anomaly 431341 Patent urachus 435743 Morphological anomaly 431344 Urachal sinus 435743 Morphological anomaly 431347 Urachal diverticulum 435743 Morphological anomaly 289365 Familial vesicoureteral reflux 156622, 182124, 93546 Malformation syndrome 652528 Supernumerary kidney 93546 Morphological anomaly 93547 Syndromic renal or urinary tract malformation 183539, 506213, 93545 Category 881 Turner syndrome 165707, 263717, 325546, 325638, 399877, 477771, 485382, 568047, 93547, 95710, 98574, 98642 Malformation syndrome 99226 Monosomy X syndrome 881 Etiological subtype 99228 Mosaic monosomy X syndrome 881 Etiological subtype 99413 Turner syndrome due to structural X chromosome anomalies 881 Etiological subtype 138 CHARGE syndrome 102283, 156237, 156532, 165707, 181387, 331220, 399846, 611327, 90642, 93547, 98655 Malformation syndrome 567 22q11.2 deletion syndrome 102283, 117573, 138047, 139036, 156532, 181402, 262182, 331220, 611327, 90642, 93547, 98033 Malformation syndrome 783 Rubinstein-Taybi syndrome 102283, 139021, 183422, 183570, 240371, 252190, 498454, 611327, 93547, 98638, 98655 Malformation syndrome 353277 Rubinstein-Taybi syndrome due to CREBBP mutations 783 Etiological subtype 353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion 261956, 783 Etiological subtype 353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency 783 Etiological subtype 893 WAGR syndrome 102283, 183422, 240371, 261947, 319328, 325638, 522548, 611327, 93547, 98087, 98557, 98638, 98641 Malformation syndrome 107 BOR syndrome 102285, 139036, 156202, 156237, 183576, 330206, 90642, 93547 Malformation syndrome 195 Cat-eye syndrome 117573, 263708, 519276, 93547 Malformation syndrome 52 Alagille syndrome 101941, 102285, 108973, 156532, 156607, 183422, 330206, 506210, 519276, 93547 Malformation syndrome 261600 Alagille syndrome due to 20p12 microdeletion 261992, 52 Etiological subtype 261619 Alagille syndrome due to a JAG1 point mutation 52 Etiological subtype 261629 Alagille syndrome due to a NOTCH2 point mutation 52 Etiological subtype 564 Meckel syndrome 108973, 139039, 156162, 156165, 269531, 269564, 294959, 459787, 471383, 522548, 93547, 93587, 98641, 98655 Malformation syndrome 289 Ellis Van Creveld syndrome 1505, 156162, 156165, 156532, 79373, 93547, 93587 Malformation syndrome 3378 Trisomy 13 syndrome 108979, 117573, 93547, 98131, 98642 Malformation syndrome 3380 Trisomy 18 syndrome 108979, 117573, 93547, 98131, 98642 Malformation syndrome 887 VACTERL/VATER association 102285, 108961, 117573, 93547 Malformation syndrome 373 Simpson-Golabi-Behmel syndrome 102283, 108979, 156207, 156237, 180779, 183422, 611327, 93460, 93547 Malformation syndrome 3027 Caudal regression syndrome 268843, 444941, 645202, 93547 Malformation syndrome 2052 Fraser syndrome 102283, 102285, 117573, 330206, 611327, 90642, 93547, 98562 Malformation syndrome 955 Hajdu-Cheney syndrome 182231, 486955, 93449, 93547 Malformation syndrome 971 Acrorenal syndrome 102285, 330206, 93547 Malformation syndrome 1064 Aniridia-renal agenesis-psychomotor retardation syndrome 102283, 522520, 611327, 93547, 98557, 98638, 98683 Malformation syndrome 1133 AREDYLD syndrome 181381, 183625, 79373, 93547 Malformation syndrome 1834 Axial mesodermal dysplasia spectrum 117573, 93547 Malformation syndrome 1896 EEC syndrome 156237, 498477, 519288, 522558, 93547, 98609 Malformation syndrome 1973 Faciocardiorenal syndrome 102283, 611327, 93547 Malformation syndrome 2186 Hydrocephalus-blue sclerae-nephropathy syndrome 519296, 93547 Malformation syndrome 2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome 181402, 261938, 90642, 93547 Malformation syndrome 2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome 104009, 93547 Malformation syndrome 2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome 102285, 330206, 93547 Malformation syndrome 672 Pallister-Hall syndrome 102283, 117573, 156162, 294959, 611327, 93547, 95495 Malformation syndrome 2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome 102283, 281244, 522548, 611327, 93547, 98641 Malformation syndrome 2669 Nephrosis-deafness-urinary tract-digital malformations syndrome 102285, 165707, 330206, 90642, 93547 Malformation syndrome 1475 Renal coloboma syndrome 519345, 93547 Malformation syndrome 2673 Neurofaciodigitorenal syndrome 102283, 611327, 93547 Malformation syndrome 2697 Arthrogryposis-renal dysfunction-cholestasis syndrome 101941, 1037, 156607, 281241, 309816, 93547 Malformation syndrome 2704 Urofacial syndrome 93547 Malformation syndrome 2750 Orofaciodigital syndrome type 1 102283, 140997, 183460, 611327, 79372, 79373, 90642, 93547 Malformation syndrome 2774 Multicentric carpo-tarsal osteolysis with or without nephropathy 93449, 93547 Malformation syndrome 2820 Spastic paraplegia-nephritis-deafness syndrome 100979, 90642, 93547 Clinical syndrome 3109 Mayer-Rokitansky-Küster-Hauser syndrome 180068, 399882, 400025, 93547 Malformation syndrome 2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2 117573, 3109 Clinical subtype 247775 Mayer-Rokitansky-Küster-Hauser syndrome type 1 3109 Clinical subtype 798 Schinzel-Giedion syndrome 102283, 183422, 611327, 93547 Malformation syndrome 3186 Holoprosencephaly-radial heart renal anomalies syndrome 102283, 611327, 93547 Malformation syndrome 3316 Thomas syndrome 102285, 139039, 156532, 330206, 93547 Malformation syndrome 3326 Thymic-renal-anal-lung dysplasia 102285, 330206, 93547 Malformation syndrome 3327 Thyrocerebrorenal syndrome 93547 Malformation syndrome 3404 Ulbright-Hodes syndrome 102283, 611327, 93547 Malformation syndrome 1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome 90642, 93547 Malformation syndrome 3411 Double uterus-hemivagina-renal agenesis syndrome 165707, 180148, 93547 Malformation syndrome 818 Smith-Lemli-Opitz syndrome 102283, 139021, 183570, 294959, 325511, 611327, 79195, 93547, 98574, 98578, 98650 Malformation syndrome 93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease 181376, 183625, 34149, 93547 Clinical subtype 217266 BNAR syndrome 102285, 117573, 156246, 330206, 435606, 93547 Malformation syndrome 439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome 1037, 156162, 165707, 269523, 269528, 269567, 93547 Malformation syndrome 444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome 156162, 269531, 269564, 459787, 471383, 93547 Malformation syndrome 2111 Cystic hamartoma of lung and kidney 93547, 93619 Disease 3015 Radio-renal syndrome 294955, 404574, 93547 Malformation syndrome 500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome 156162, 165707, 269531, 269564, 459787, 471383, 93547 Malformation syndrome 71273 Renal nutcracker syndrome 165711, 93547 Disease 2838 Renal caliceal diverticuli-deafness syndrome 90642, 93547 Malformation syndrome 1756 Caudal duplication 117573, 269531, 93547 Malformation syndrome 500095 Tall stature-intellectual disability-renal anomalies syndrome 102283, 611327, 93547 Malformation syndrome 508488 8q24.3 microdeletion syndrome 102283, 139021, 156532, 183570, 262065, 611327, 93547 Malformation syndrome 592574 Menke-Hennekam syndrome 102283, 139021, 183570, 611327, 93547 Malformation syndrome 521438 Congenital vertebral-cardiac-renal anomalies syndrome 102285, 156532, 330206, 90642, 93547 Malformation syndrome 3032 NPHP3-related Meckel-like syndrome 101939, 156180, 156604, 269546, 269570, 93547 Malformation syndrome 597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome 102283, 156532, 165707, 269528, 611327, 93547 Malformation syndrome 656130 PBX1-related congenital anomalies of kidney-urinary tract syndrome 102283, 611327, 90642, 93547 Disease 689822 Structural heart defects-renal anomalies syndrome 102285, 156532, 330206, 93547 Malformation syndrome 97965 Rare surgical cardiac disease 93890 Category 88991 Rare congenital non-syndromic heart malformation 97965 Category 474347 Rare congenital anomaly of ventricular septum 88991 Clinical group 99094 Laubry-Pezzi syndrome 474347 Morphological anomaly 99092 Interventricular septum aneurysm 474347 Morphological anomaly 99095 Congenital Gerbode defect 88991 Morphological anomaly 2846 Congenital pericardium anomaly 88991 Category 99129 Congenital complete agenesis of pericardium 2846 Morphological anomaly 99130 Congenital partial agenesis of pericardium 2846 Morphological anomaly 99131 Pleuro-pericardial cyst 2846 Morphological anomaly 1081 Coronary artery congenital malformation 88991 Category 2041 Coronary arterial fistula 1081 Morphological anomaly 95491 Congenital coronary artery aneurysm 1081 Morphological anomaly 541478 Anomalous aortic origin of coronary artery 1081 Clinical group 541443 Anomalous aortic origin of the left coronary artery 541478 Morphological anomaly 541454 Anomalous aortic origin of the right coronary artery 541478 Morphological anomaly 541507 Anomalous origin of coronary artery from the pulmonary artery 1081 Morphological anomaly 542822 Anomaly of the coronary ostia 1081 Clinical group 99087 Coronary ostial stenosis or atresia 542822 Morphological anomaly 99089 Abnormal number of coronary ostia 542822 Morphological anomaly 99090 Malposition of a coronary ostium 542822 Morphological anomaly 1686 Cardiac diverticulum 88991 Morphological anomaly 1461 Criss-cross heart 88991 Morphological anomaly 95483 Univentricular cardiopathy 88991 Category 2248 Hypoplastic left heart syndrome 95483 Morphological anomaly 1464 Univentricular heart 95483 Morphological anomaly 98723 Hypoplastic right heart syndrome 95483 Clinical group 1208 Pulmonary atresia-intact ventricular septum syndrome 98719, 98723 Morphological anomaly 439 Isolated right ventricular hypoplasia 98723 Morphological anomaly 98716 Heart position anomaly 88991 Category 450 Visceral heterotaxy 98716 Category 1666 Dextrocardia 450 Morphological anomaly 95854 Levocardia 450 Morphological anomaly 97548 Right isomerism 108973, 271853, 450 Malformation syndrome 101063 Situs inversus totalis 108971, 271853, 450 Morphological anomaly 157769 Situs ambiguus 108971, 271853, 450 Morphological anomaly 566862 Left isomerism 271853, 450 Malformation syndrome 95443 Mesocardia 98716 Morphological anomaly 98717 Transposition of the great arteries and conotruncal cardiac anomaly 88991 Category 2445 Conotruncal heart malformations 98717 Category 3303 Tetralogy of Fallot 2445 Malformation syndrome 3384 Common arterial trunk 2445, 477805 Morphological anomaly 665058 Common arterial trunk with pulmonary dominance and interrupted aortic arch 3384 Clinical subtype 665044 Common arterial trunk with aortic dominance 3384 Clinical subtype 982 Pulmonary valve agenesis 2445, 98719 Clinical group 99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome 982 Malformation syndrome 101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome 982 Malformation syndrome 1138 Abnormal origin of the pulmonary artery 2445 Clinical group 658574 Isolated pulmonary artery sling 1138 Morphological anomaly 99049 Pulmonary artery coming from patent ductus arteriosus 1138 Morphological anomaly 99050 Abnormal origin of right or left pulmonary artery from the aorta 1138, 182111 Morphological anomaly 1207 Pulmonary atresia with ventricular septal defect 2445 Morphological anomaly 2037 Congenital aortopulmonary window 2445 Morphological anomaly 3426 Double outlet right ventricle 2445, 271853 Morphological anomaly 99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis 3426 Clinical subtype 99045 Double outlet right ventricle with subpulmonary ventricular septal defect 3426 Clinical subtype 99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect 3426 Clinical subtype 423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect 3426 Clinical subtype 423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy 3426 Clinical subtype 3427 Double outlet left ventricle 2445 Morphological anomaly 98718 Aortic malformation 98717, 98724 Category 3193 Supravalvular aortic stenosis 271853, 98718 Morphological anomaly 1457 Coarctation of aorta 98718 Morphological anomaly 2299 Aortic arch interruption 98718 Morphological anomaly 3092 Fixed subaortic stenosis 98718 Morphological anomaly 99051 Discrete fixed membranous subaortic stenosis 3092 Clinical subtype 99052 Discrete fibromuscular subaortic stenosis 3092 Clinical subtype 99053 Tunnel subaortic stenosis 3092 Clinical subtype 3093 Congenital aortic valve stenosis 98718, 98725 Morphological anomaly 95448 Congenital aortic valve atresia 3093 Clinical subtype 101043 Congenital aortic valve dysplasia 3093 Clinical subtype 402075 Familial bicuspid aortic valve 271853, 285014, 98718 Morphological anomaly 1456 Middle aortic syndrome 98718 Morphological anomaly 542568 Quadricuspid aortic valve 98718 Morphological anomaly 98719 Pulmonary artery or pulmonary branch anomaly 98717, 98724 Category 980 Absence of the pulmonary artery 98719 Morphological anomaly 3189 Congenital pulmonary valvar stenosis 98719 Morphological anomaly 3190 Subpulmonary stenosis 3189 Clinical subtype 3192 Supravalvular pulmonary stenosis 3189 Clinical subtype 99054 Valvular pulmonary stenosis 3189 Clinical subtype 1676 Idiopathic pulmonary artery dilatation 98719 Disease 99083 Pulmonary artery hypoplasia 182111, 98719 Morphological anomaly 99084 Peripheral pulmonary stenosis 98719 Morphological anomaly 216675 Transposition of the great arteries 98717 Category 860 Congenitally uncorrected transposition of the great arteries 216675, 271853 Morphological anomaly 99042 Congenitally uncorrected transposition of the great arteries with coarctation 860 Clinical subtype 216718 Isolated congenitally uncorrected transposition of the great arteries 860 Clinical subtype 216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation 860 Clinical subtype 216694 Congenitally corrected transposition of the great arteries 216675 Morphological anomaly 98720 Atrioventricular valve anomaly 88991 Category 2447 Congenital mitral malformation 98720 Category 95464 Congenital mitral valve insufficiency and/or stenosis 2447 Category 741 Familial mitral valve prolapse 271853, 95464 Morphological anomaly 1205 Mitral atresia 95464 Morphological anomaly 99057 Congenital mitral stenosis 95464 Morphological anomaly 99058 Hypoplasia of the mitral valve annulus 95464 Morphological anomaly 99059 Congenital supravalvular mitral ring 95464 Morphological anomaly 99060 Congenital unguarded mitral orifice 95464 Morphological anomaly 99061 Accessory mitral valve tissue 95464 Morphological anomaly 99062 Mitral valve agenesis 95464 Morphological anomaly 99063 Shone complex 95464 Malformation syndrome 101932 Anomaly of the mitral subvalvular apparatus 95464 Morphological anomaly 95465 Cleft mitral valve 2447 Morphological anomaly 95474 Double-orifice mitral valve 95465 Clinical subtype 99064 Straddling and/or overriding mitral valve 95465 Clinical subtype 98721 Congenital tricuspid malformation 98720 Category 95459 Congenital tricuspid stenosis 98721 Morphological anomaly 95461 Straddling or overriding tricuspid valve 98721 Morphological anomaly 95462 Accessory tricuspid valve tissue 98721 Morphological anomaly 95463 Anomaly of the tricuspid subvalvular apparatus 98721 Category 99055 Congenital anomaly of the tricuspid valve chordae 95463 Morphological anomaly 99056 Parachute tricuspid valve 95463 Morphological anomaly 555874 Congenital tricuspid valve dysplasia 98721 Morphological anomaly 1880 Ebstein malformation of the tricuspid valve 477805, 98721 Morphological anomaly 1209 Tricuspid atresia 98721 Morphological anomaly 95457 Tricuspid valve agenesis 98721 Morphological anomaly 98722 Atrioventricular septal defect 271853, 98720 Clinical group 1329 Complete atrioventricular septal defect 98722 Morphological anomaly 576227 Complete atrioventricular septal defect without ventricular hypoplasia 1329 Clinical subtype 99067 Complete atrioventricular septal defect with ventricular hypoplasia 1329 Clinical subtype 99068 Complete atrioventricular septal defect-tetralogy of Fallot 1329 Clinical subtype 1330 Partial atrioventricular septal defect 98722 Morphological anomaly 576232 Partial atrioventricular septal defect with ventricular hypoplasia 1330 Clinical subtype 576235 Partial atrioventricular septal defect without ventricular hypoplasia 1330 Clinical subtype 576242 Intermediate atrioventricular septal defect 98722 Morphological anomaly 555877 FLNA-related X-linked myxomatous valvular dysplasia 477805, 98720 Morphological anomaly 98724 Congenital anomaly of the great arteries 458844, 88991 Category 1132 Aortic arch defects 108995, 182111, 98724 Category 99075 Encircling double aortic arch 1132 Morphological anomaly 99076 Persistent fifth aortic arch 1132 Morphological anomaly 99077 Kommerell diverticulum 1132 Morphological anomaly 99078 Neuhauser anomaly 1132 Morphological anomaly 99079 Cervical aortic arch 1132 Morphological anomaly 99081 Right aortic arch 1132 Morphological anomaly 99082 Dysphagia lusoria 1132 Morphological anomaly 185 Scimitar syndrome 182111, 98724, 98729 Malformation syndrome 95485 Arterial duct anomaly 98724 Category 95486 Premature closure of the arterial duct 95485 Morphological anomaly 99072 Congenital patent ductus arteriosus aneurysm 95485 Morphological anomaly 466729 Familial patent arterial duct 211240, 271853, 95485 Morphological anomaly 98725 Ascending aorta anomaly 98724 Category 1054 Aneurysm of sinus of Valsalva 98725 Morphological anomaly 3400 Aorto-ventricular tunnel 98725 Morphological anomaly 99070 Aorto-right ventricular tunnel 3400 Clinical subtype 99071 Aorto-left ventricular tunnel 3400 Clinical subtype 98727 Rare atrial defect and interatrial communication 88991 Category 1478 Interatrial communication 271853, 98727 Morphological anomaly 99103 Atrial septal defect, ostium secundum type 1478 Clinical subtype 99104 Atrial septal defect, coronary sinus type 1478 Clinical subtype 99105 Atrial septal defect, sinus venosus type 1478 Clinical subtype 99106 Atrial septal defect, ostium primum type 1478 Clinical subtype 1463 Triatrial heart 98727 Clinical group 99098 Cor triatriatum dexter 1463 Morphological anomaly 99099 Cor triatriatum sinister 1463 Morphological anomaly 1677 Familial idiopathic dilatation of the right atrium 477805, 98727 Morphological anomaly 95510 Atrial appendage anomaly 98727 Category 99100 Juxtaposition of the atrial appendages 95510 Morphological anomaly 99101 Ectasia of the right atrial appendage 95510 Morphological anomaly 99102 Ectasia of the left atrial appendage 95510 Morphological anomaly 99107 Atrial septal aneurysm 98727 Morphological anomaly 568065 EPHB4-related lymphatic-related hydrops fetalis 568044, 98727 Disease 363189 Congenital anomaly of the great veins 458844, 88991 Category 3091 Congenital systemic veins anomaly 363189 Category 95498 Congenital anomaly of superior vena cava 3091 Category 652668 Primary superior vena cava aneurysm 95498 Malformation syndrome 99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium 95498 Morphological anomaly 99110 Right superior vena cava connecting to left-sided atrium 95498 Morphological anomaly 99111 Persistent left superior vena cava connecting to the roof of left-sided atrium 95498 Morphological anomaly 99112 Absence of innominate vein 95498 Morphological anomaly 99113 Subaortic course of innominate vein 95498 Morphological anomaly 99114 Agenesis of the superior vena cava 95498 Morphological anomaly 95499 Congenital anomaly of the inferior vena cava 3091 Category 652678 Primary inferior vena cava aneurysm 95499 Morphological anomaly 99119 Right inferior vena cava connecting to left-sided atrium 95499 Morphological anomaly 99120 Persistent eustachian valve 95499 Morphological anomaly 99121 Azygos continuation of the inferior vena cava 95499 Morphological anomaly 99122 Congenital stenosis of the inferior vena cava 95499 Morphological anomaly 99123 Inferior vena cava interruption without azygos continuation 95499 Morphological anomaly 95500 Congenital anomaly of the coronary sinus 3091 Category 99117 Coronary sinus stenosis 95500 Morphological anomaly 99118 Coronary sinus atresia 95500 Morphological anomaly 95507 Congenital anomaly of hepatic vein 101938, 3091, 506210 Morphological anomaly 480531 Congenital portosystemic shunt 101938, 3091, 506210 Morphological anomaly 98729 Congenital pulmonary veins anomaly 363189 Category 3090 Congenital pulmonary venous return anomaly 98729 Clinical group 99124 Congenital partial pulmonary venous return anomaly 3090 Morphological anomaly 99125 Congenital total pulmonary venous return anomaly 3090 Morphological anomaly 3188 Congenital pulmonary veins atresia or stenosis 182111, 506222, 98729 Clinical group 99126 Congenital pulmonary vein atresia 3188 Morphological anomaly 642071 Primary pulmonary vein stenosis 3188 Disease 448270 Ectopia cordis 88991 Morphological anomaly 1055 Congenital left ventricular aneurysm 88991 Malformation syndrome 156532 Rare syndrome with cardiac malformations 97965, 98054 Category 488618 Transketolase deficiency 102283, 139021, 156532, 183570, 611327, 79186 Malformation syndrome 467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome 156532, 522520, 97245, 98683 Disease 2475 White forelock with malformations 102285, 156532, 330206, 519296 Malformation syndrome 904 Williams syndrome 102283, 139021, 139393, 156532, 156629, 183570, 262056, 306765, 506213, 611327, 98033, 98574 Malformation syndrome 1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome 102285, 156532, 330206, 98578 Malformation syndrome 2516 Microcephaly-cardiac defect-lung malsegmentation syndrome 102285, 156532, 330206 Malformation syndrome 2886 TARP syndrome 102283, 138044, 156532, 363294, 611327 Malformation syndrome 42775 PHACE syndrome 102006, 102283, 156532, 210589, 269523, 269567, 371436, 459543, 477771, 611327 Malformation syndrome 69737 Bosley-Salih-Alorainy syndrome 102283, 156532, 611327, 90642 Malformation syndrome 75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome 102283, 156532, 611327 Malformation syndrome 137628 Cardiac anomalies-heterotaxy syndrome 156532 Malformation syndrome 217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type 102285, 139021, 156532, 183570, 330206 Malformation syndrome 228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome 156532, 228184 Malformation syndrome 228410 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome 102283, 139030, 156532, 611327 Malformation syndrome 664404 6q25.1 microdeletion syndrome 228410, 262047 Etiological subtype 664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation 228410 Etiological subtype 230851 Cardiac-valvular Ehlers-Danlos syndrome 156532, 98249 Disease 284247 Familial retinal arterial macroaneurysm 156532, 183503, 71281, 716450, 717339 Malformation syndrome 369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency 102283, 156532, 271853, 611327 Malformation syndrome 371183 Congenital disorder of glycosylation with cardiac malformation as a major feature 156532, 371235 Category 709 Peters plus syndrome 102283, 309505, 371047, 371183, 519276, 611327, 98638, 98644 Malformation syndrome 2953 Musculocontractural Ehlers-Danlos syndrome 309450, 371047, 371183, 371200, 371207, 97120, 98249 Disease 3474 CHIME syndrome 102283, 309515, 371071, 371183, 371200, 371212, 522520, 611327, 79373, 98683 Malformation syndrome 79329 MGAT2-CDG 309347, 371047, 371183, 611314 Disease 79333 COG7-CDG 102283, 309568, 371071, 371183, 371200, 611327 Disease 284139 Larsen-like syndrome, B3GAT3 type 139030, 309450, 371183, 371195, 93441 Malformation syndrome 444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome 102283, 139021, 156532, 183570, 240371, 611327 Malformation syndrome 98733 Noonan syndrome and Noonan-related syndrome 139021, 156532, 183570, 536391 Category 638 Neurofibromatosis-Noonan syndrome 183466, 183487, 79375, 79386, 98196, 98733 Malformation syndrome 453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome 102283, 156532, 611327, 93454 Malformation syndrome 352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion 262074, 453499 Etiological subtype 453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation 453499 Etiological subtype 3191 Subaortic stenosis-short stature syndrome 102285, 139021, 156532, 183570, 330206 Malformation syndrome 457193 KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome 102283, 156532, 611327 Malformation syndrome 562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome 102283, 156532, 611327 Malformation syndrome 870 Down syndrome 102283, 117573, 156532, 477771, 522564, 611327, 98131, 98571, 98574, 98576, 98623, 98642 Malformation syndrome 2519 Microcephaly-seizures-intellectual disability-heart disease syndrome 102283, 156532, 522520, 611327 Malformation syndrome 496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome 102283, 102285, 108979, 156532, 180779, 294955, 404574, 611327 Malformation syndrome 508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome 102285, 139039, 156532, 330206, 90642 Malformation syndrome 508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome 102283, 139021, 156532, 183570, 611327 Malformation syndrome 1354 Heart defects-limb shortening syndrome 102285, 156532, 294955, 330206, 404574 Malformation syndrome 580933 Lethal brain and heart developmental defects 156532, 269523, 459787, 471383 Malformation syndrome 589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome 102283, 156532, 254, 611327, 98628 Malformation syndrome 592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome 102283, 109009, 156532, 269531, 269564, 404577, 611327 Malformation syndrome 664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome 102283, 139042, 156532, 183580, 611327, 98746 Malformation syndrome 684305 Neurooculocardiogenitourinary syndrome 102283, 156532, 165707, 519288, 611327 Disease 684742 2q13 microdeletion syndrome 102283, 156532, 262010, 611327 Malformation syndrome 688642 Turnpenny-Fry syndrome 102283, 156532, 269531, 611327, 90642 Malformation syndrome 646278 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome 102283, 156532, 611327 Disease 98038 Cranial malformation 93890 Category 97340 Hunter-McAlpine syndrome 98038 Malformation syndrome 2050 Cole-Carpenter syndrome 102285, 183542, 330206, 519296, 93446, 98038 Malformation syndrome 1531 Craniosynostosis 183542, 364559, 404568, 98038 Category 139390 Non-syndromic craniosynostosis 1531 Clinical group 620096 Non-syndromic unisutural craniosynostosis 139390 Clinical group 620102 Non-syndromic unicoronal craniosynostosis 620096 Morphological anomaly 620113 Non-syndromic unilambdoid craniosynostosis 620096 Morphological anomaly 620139 Non-syndromic unifrontosphenoidal craniosynostosis 620096 Morphological anomaly 620146 Non-syndromic unisquamosal craniosynostosis 620096 Morphological anomaly 3366 Non-syndromic metopic craniosynostosis 620096, 98684 Morphological anomaly 35093 Non-syndromic sagittal craniosynostosis 620096, 98684 Morphological anomaly 620152 Non-syndromic multisutural craniosynostosis 139390 Clinical group 620158 Non-syndromic non-specific multisutural craniosynostosis 620152 Morphological anomaly 620178 Non-syndromic bilambdoid craniosynostosis 620152 Morphological anomaly 620186 Non-syndromic unicoronal and sagittal craniosynostosis 620152 Morphological anomaly 620192 Non-syndromic metopic and sagittal craniosynostosis 620152 Morphological anomaly 620198 Non-syndromic bicoronal and metopic craniosynostosis 620152 Morphological anomaly 620205 Non-syndromic bicoronal and sagittal craniosynostosis 620152 Morphological anomaly 620212 Non-syndromic pansynostosis 620152 Morphological anomaly 35099 Non-syndromic bicoronal craniosynostosis 611314, 620152, 98684 Morphological anomaly 1516 Non-syndromic bilambdoid and sagittal craniosynostosis 620152 Malformation syndrome 139393 Syndromic craniosynostosis 1531 Category 207 Crouzon syndrome 139393, 98650, 98684 Malformation syndrome 1308 C syndrome 102283, 139393, 611327 Malformation syndrome 87 Apert syndrome 102283, 138055, 139393, 611327, 98650, 98684 Malformation syndrome 83 Antley-Bixler syndrome 102283, 139393, 611327 Malformation syndrome 63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis 418, 83, 90776, 90786 Clinical subtype 596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis 83 Clinical subtype 1225 Baller-Gerold syndrome 117573, 139393 Malformation syndrome 1515 Cranioectodermal dysplasia 139393, 1505, 156162, 506213, 716405, 79373, 93587 Malformation syndrome 1527 Craniosynostosis, Philadelphia type 139393, 294959 Malformation syndrome 1528 Craniotelencephalic dysplasia 102010, 139393 Malformation syndrome 1540 Jackson-Weiss syndrome 139393 Malformation syndrome 1553 Curry-Jones syndrome 102283, 139393, 199639, 611327 Malformation syndrome 1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome 102285, 139393, 330206, 477808, 79381 Malformation syndrome 2145 Craniosynostosis, Herrmann-Opitz type 139393 Malformation syndrome 2163 Holoprosencephaly-craniosynostosis syndrome 139393, 269531, 522520, 98683 Malformation syndrome 2409 Lowry-MacLean syndrome 102283, 139393, 611327, 98638 Malformation syndrome 2462 Shprintzen-Goldberg syndrome 102283, 139393, 284993, 611327 Malformation syndrome 2872 Cardiocranial syndrome, Pfeiffer type 102283, 139393, 611327 Malformation syndrome 3134 SCARF syndrome 102283, 139393, 209, 611327 Malformation syndrome 313855 FGFR2-related bent bone dysplasia 139393, 93439 Disease 3365 Trigonocephaly-broad thumbs syndrome 139393 Malformation syndrome 3369 Trigonocephaly-short stature-developmental delay syndrome 102283, 139393, 611327 Malformation syndrome 2898 X-linked intellectual disability-plagiocephaly syndrome 102283, 139393, 611327 Malformation syndrome 1541 Craniosynostosis, Boston type 139393 Malformation syndrome 1524 Craniomicromelic syndrome 139393 Malformation syndrome 52054 Craniosynostosis-intracranial calcifications syndrome 139393 Malformation syndrome 53271 Muenke syndrome 102283, 139393, 611327 Malformation syndrome 247651 Infantile hypophosphatasia 139393, 436, 98027 Clinical subtype 85199 Craniosynostosis-anal anomalies-porokeratosis syndrome 139393, 93451 Malformation syndrome 93262 Crouzon syndrome-acanthosis nigricans syndrome 139393, 98684 Malformation syndrome 93267 Cloverleaf skull-multiple congenital anomalies syndrome 139393, 522548, 98641 Malformation syndrome 247638 Prenatal benign hypophosphatasia 139393, 436 Clinical subtype 100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome 139393 Malformation syndrome 169163 Familial scaphocephaly syndrome 139393 Category 1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome 169163, 269546, 269570 Malformation syndrome 168624 Familial scaphocephaly syndrome, McGillivray type 102283, 169163, 611327 Malformation syndrome 171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome 139393, 269531 Malformation syndrome 178377 Osteosclerosis-developmental delay-craniosynostosis syndrome 139393 Malformation syndrome 221054 Acrocephalopolydactyly 139393 Malformation syndrome 284149 Craniosynostosis-dental anomalies 139042, 139393, 183580 Malformation syndrome 293925 Lethal occipital encephalocele-skeletal dysplasia syndrome 139393 Malformation syndrome 247667 Childhood-onset hypophosphatasia 139393, 436, 98027 Clinical subtype 293843 3MC syndrome 102283, 139393, 611327 Malformation syndrome 79213 Mucopolysaccharidosis 139009, 139393, 506219, 68366, 98638 Category 583 Mucopolysaccharidosis type 6 79213, 93448 Disease 276212 Mucopolysaccharidosis type 6, rapidly progressing 583 Clinical subtype 276223 Mucopolysaccharidosis type 6, slowly progressing 583 Clinical subtype 584 Mucopolysaccharidosis type 7 611314, 79213, 93448 Disease 579 Mucopolysaccharidosis type 1 611314, 68385, 79213, 93448 Disease 93474 Scheie syndrome 579 Clinical subtype 581 Mucopolysaccharidosis type 3 225681, 611314, 68385, 79213, 93448, 98644 Disease 79269 Sanfilippo syndrome type A 581 Etiological subtype 79270 Sanfilippo syndrome type B 581 Etiological subtype 79271 Sanfilippo syndrome type C 581 Etiological subtype 79272 Sanfilippo syndrome type D 581 Etiological subtype 582 Mucopolysaccharidosis type 4 79213, 93448 Disease 309310 Mucopolysaccharidosis type 4B 582 Clinical subtype 309297 Mucopolysaccharidosis type 4A 582 Clinical subtype 67041 Hyaluronidase deficiency 79213, 93448 Disease 662216 Mucopolysaccharidosis type 10 611314, 68385, 79213, 93448 Disease 2645 Osteoglosphonic dysplasia 139393, 93450 Malformation syndrome 3270 Radioulnar synostosis-developmental delay-hypotonia syndrome 102283, 139393, 522520, 611327, 93459, 98683 Malformation syndrome 369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome 102283, 139393, 309515, 371195, 611327 Malformation syndrome 1520 Craniofrontonasal dysplasia 102283, 139393, 250, 364574, 611327 Malformation syndrome 65759 Carpenter syndrome 102283, 139393, 240371, 363250, 611327 Malformation syndrome 2655 Thanatophoric dysplasia 139393, 364536, 93420 Disease 1860 Thanatophoric dysplasia type 1 2655 Clinical subtype 93274 Thanatophoric dysplasia type 2 2655 Clinical subtype 763 Pycnodysostosis 139393, 2781, 68366 Disease 1465 Coffin-Siris syndrome 102283, 139393, 498454, 611327 Malformation syndrome 36 Acrocallosal syndrome 102283, 139393, 199639, 269573, 294959, 611327 Malformation syndrome 235 Dubowitz syndrome 102283, 139021, 139393, 183570, 611327, 79373, 98578 Malformation syndrome 647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome 139393 Malformation syndrome 565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome 102283, 139393, 166472, 611327 Malformation syndrome 672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome 139393 Malformation syndrome 672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome 139393 Malformation syndrome 2332 KBG syndrome 102283, 139021, 139042, 139393, 183580, 611327 Malformation syndrome 96169 Koolen-De Vries syndrome 102283, 139393, 611327 Malformation syndrome 363958 17q21.31 microdeletion syndrome 262137, 96169 Etiological subtype 363965 Koolen-De Vries syndrome due to a point mutation 96169 Etiological subtype 97297 Bohring-Opitz syndrome 102283, 139393, 611327 Malformation syndrome 1906 Fetal valproate spectrum disorder 138059, 139393, 370068 Malformation syndrome 710 Pfeiffer syndrome 139393, 98684 Malformation syndrome 93258 Pfeiffer syndrome type 1 710 Clinical subtype 93259 Pfeiffer syndrome type 2 710 Clinical subtype 93260 Pfeiffer syndrome type 3 710 Clinical subtype 794 Saethre-Chotzen syndrome 139393, 183422, 611314, 98578, 98684 Malformation syndrome 945 Acalvaria 98038 Malformation syndrome 1513 Craniodiaphyseal dysplasia 183542, 93444, 98038 Malformation syndrome 1790 Hypomandibular faciocranial dysostosis 102283, 183542, 611327, 98038 Malformation syndrome 77296 Morgagni-Stewart-Morel syndrome 183542, 98038 Malformation syndrome 1114 Aplasia cutis congenita 183481, 183542, 79380, 98038 Malformation syndrome 93451 Cleidocranial dysplasia and isolated cranial ossification defect 364526, 98038 Category 251290 Parietal foramina with clavicular hypoplasia 93451 Malformation syndrome 1452 Cleidocranial dysplasia 139042, 183542, 93451 Malformation syndrome 3034 Delayed membranous cranial ossification 183542, 93451 Malformation syndrome 3472 Yunis-Varon syndrome 102283, 611327, 93451 Malformation syndrome 60015 Enlarged parietal foramina 183542, 93451 Malformation syndrome 974 Adams-Oliver syndrome 102283, 183481, 183542, 294955, 404574, 498454, 522548, 611327, 79380, 98038, 98641 Malformation syndrome 1522 Craniometaphyseal dysplasia 183542, 93444, 98038 Malformation syndrome 1826 Frontometaphyseal dysplasia 102283, 183542, 364541, 611327, 98038 Disease 2780 Osteopathia striata-cranial sclerosis syndrome 183542, 2781, 611314, 98038 Malformation syndrome 2763 Osteocraniostenosis 183542, 93440, 98038 Malformation syndrome 98039 Digestive tract malformation 165711, 93890 Category 88993 Esophageal malformation 183545, 98039 Category 108959 Non-syndromic esophageal malformation 88993 Category 1199 Esophageal atresia 108959 Morphological anomaly 91357 Duplication of the esophagus 108959 Clinical group 100047 Isolated esophageal duplication cyst 91357 Morphological anomaly 100048 Isolated tubular duplication of the esophagus 91357 Morphological anomaly 91358 Congenital esophageal diverticulum 108959 Morphological anomaly 645749 Congenital esophageal stenosis 108959 Morphological anomaly 2004 Laryngotracheoesophageal cleft 108959, 108993, 156249, 182111 Morphological anomaly 93938 Laryngotracheoesophageal cleft type 1 2004 Clinical subtype 93939 Laryngotracheoesophageal cleft type 2 2004 Clinical subtype 93940 Laryngotracheoesophageal cleft type 3 2004 Clinical subtype 93941 Laryngotracheoesophageal cleft type 4 2004 Clinical subtype 280205 Laryngotracheoesophageal cleft type 0 2004 Clinical subtype 454750 Isolated tracheoesophageal fistula 108959, 108993, 182111 Morphological anomaly 108961 Syndromic esophageal malformation 88993 Category 869 Triple A syndrome 101960, 108961, 207015, 371445, 611314, 98604 Disease 929 Achalasia-microcephaly syndrome 108961, 371445 Malformation syndrome 1305 Feingold syndrome 102283, 108961, 108965, 108993, 117573, 371445, 498454, 611327 Malformation syndrome 391641 Feingold syndrome type 1 1305 Clinical subtype 391646 Feingold syndrome type 2 1305 Clinical subtype 77298 Anophthalmia/microphthalmia-esophageal atresia syndrome 102283, 108961, 202948, 371445, 611327, 95495 Malformation syndrome 514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome 108961, 371445 Malformation syndrome 97944 Gastroduodenal malformation 183545, 98039 Category 108963 Non-syndromic gastroduodenal malformation 97944 Category 662376 Isolated gastric duplication 108963 Morphological anomaly 662405 Isolated pyloric duplication 108963 Morphological anomaly 1203 Duodenal atresia 108963, 108967 Morphological anomaly 199293 Congenital microgastria 108963 Morphological anomaly 108965 Syndromic gastroduodenal malformation 97944 Category 2538 Microgastria-limb reduction defect syndrome 102283, 108965 Malformation syndrome 97945 Intestinal malformation 183545, 506216, 98039 Category 108967 Non-syndromic intestinal malformation 97945 Category 2300 Isolated multiple intestinal atresia 108967 Morphological anomaly 2301 Congenital short bowel syndrome 108967, 365563 Morphological anomaly 1201 Small bowel atresia 108967, 365563 Morphological anomaly 1198 Colonic atresia 108967 Morphological anomaly 662456 Isolated small intestine duplication 108967 Morphological anomaly 662473 Isolated duodenal duplication 662456 Clinical subtype 662480 Isolated jejuno-ileal duplication 662456 Clinical subtype 508410 Familial intestinal malrotation 108967 Morphological anomaly 662392 Isolated colonic duplication 108967 Morphological anomaly 108969 Syndromic intestinal malformation 97945 Category 557866 Rare disorder with Hirschsprung disease as a major feature 108969 Category 110 Bardet-Biedl syndrome 102283, 104009, 156162, 156180, 156183, 181387, 240371, 399846, 506213, 557866, 611327, 716405, 93587 Disease 66629 Goldberg-Shprintzen megacolon syndrome 102283, 104009, 139039, 557866, 611327, 98578 Malformation syndrome 99803 Haddad syndrome 101944, 104009, 156610, 423662, 434786, 522520, 557866, 98683 Malformation syndrome 163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease 104009, 183469, 557866, 611314, 68356, 79376, 90642, 98497 Disease 897 Waardenburg-Shah syndrome 104009, 183469, 557866, 79376, 90642 Disease 2150 Hirschsprung disease-type D brachydactyly syndrome 102285, 104009, 330206, 557866 Malformation syndrome 2152 Mowat-Wilson syndrome 102283, 166472, 557866, 611327 Malformation syndrome 261537 Mowat-Wilson syndrome due to monosomy 2q22 166469, 2152, 262010 Etiological subtype 261552 Mowat-Wilson syndrome due to a ZEB2 point mutation 2152 Etiological subtype 2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome 104009, 557866, 79370 Malformation syndrome 2155 Hirschsprung disease-deafness-polydactyly syndrome 102285, 104009, 330206, 557866, 90642 Malformation syndrome 2464 Marfanoid syndrome, De Silva type 108969 Malformation syndrome 1759 Thoraco-abdominal enteric duplication 108969 Malformation syndrome 3405 Umbilical cord ulceration-intestinal atresia syndrome 108969 Malformation syndrome 293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome 108969, 108973, 498350 Malformation syndrome 436252 Combined immunodeficiency-multiple intestinal atresia 108969, 331217, 506219 Disease 527468 Diaphragmatic hernia-short bowel-asplenia syndrome 108969, 108973, 108979, 180779, 459787, 471383 Malformation syndrome 506307 Stromme syndrome 102283, 108969, 156162, 156165, 519276, 611327, 716459, 717348 Malformation syndrome 684757 Malformation of the anal canal and the rectum 183545, 98039 Category 96346 Anorectal malformation 506216, 684757 Category 557 Non-syndromic anorectal malformation 96346 Clinical group 600952 Non-syndromic perineal fistula 557 Morphological anomaly 600961 Non-syndromic rectourethral fistula 557 Morphological anomaly 600966 Non-syndromic rectourethral fistula, bulbar type 600961 Clinical subtype 600975 Non-syndromic rectourethral fistula, prostatic type 600961 Clinical subtype 600984 Non-syndromic rectovesical fistula 557 Morphological anomaly 600993 Non-syndromic vestibular fistula 557 Morphological anomaly 600998 Non-syndromic cloacal malformation 557 Morphological anomaly 601002 Non-syndromic anorectal malformation without fistula 557 Morphological anomaly 601008 Non-syndromic anal stenosis 557 Morphological anomaly 601013 Non-syndromic pouch colon 557 Morphological anomaly 601018 Non-syndromic rectal atresia 557 Morphological anomaly 601023 Non-syndromic rectal stenosis 557 Morphological anomaly 601028 Non-syndromic rectovaginal fistula 557 Morphological anomaly 601033 Non-syndromic H-type fistula 557 Morphological anomaly 117573 Syndromic anorectal malformation 96346 Category 857 Townes-Brocks syndrome 102285, 117573, 294959, 330206, 90642 Malformation syndrome 884 Pallister-Killian syndrome 108979, 117573, 166469, 180779, 262658, 93461 Malformation syndrome 1552 Currarino syndrome 117573, 180148, 93454 Malformation syndrome 1590 Distal deletion 13q syndrome 117573, 262101, 98642 Malformation syndrome 1436 X-linked skeletal dysplasia-intellectual disability syndrome 102283, 117573, 611327, 93434 Malformation syndrome 2315 Johanson-Blizzard syndrome 102283, 117573, 139021, 177107, 183570, 611327, 79373, 95495 Malformation syndrome 2322 Kabuki syndrome 102283, 108979, 117573, 139021, 180779, 183570, 611327, 98570 Malformation syndrome 2408 Lowe-Kohn-Cohen syndrome 117573, 90642 Malformation syndrome 2556 Microphthalmia with linear skin defects syndrome 102283, 117573, 139027, 183481, 202948, 611327, 79380, 98638 Malformation syndrome 2973 46,XX difference of sex development-anorectal anomalies syndrome 117573, 180148, 325109 Malformation syndrome 3138 Ulnar-mammary syndrome 102283, 117573, 180173, 294955, 404574, 611327 Malformation syndrome 3412 VACTERL with hydrocephalus 102283, 117573, 611327 Malformation syndrome 2745 Opitz GBBB syndrome 102283, 108995, 117573, 165707, 611327, 98575 Malformation syndrome 782 Axenfeld-Rieger syndrome 102285, 117573, 330206, 519276, 95495, 98638 Malformation syndrome 75857 6q terminal deletion syndrome 117573, 262047 Malformation syndrome 83628 LUMBAR syndrome 102285, 117573, 210589, 269531, 330206, 79385 Malformation syndrome 93271 Short rib-polydactyly syndrome, Verma-Naumoff type 117573, 1505 Malformation syndrome 93293 Okihiro syndrome 117573, 294955, 404574, 522520, 98683 Malformation syndrome 261638 Okihiro syndrome due to 20q13 microdeletion 262164, 93293 Etiological subtype 261647 Okihiro syndrome due to a point mutation 93293 Etiological subtype 96176 Ring chromosome 13 syndrome 117573, 363203 Malformation syndrome 96185 Maternal uniparental disomy of chromosome 16 syndrome 117573, 98153 Malformation syndrome 140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome 102285, 117573, 294959, 330206 Malformation syndrome 444941 Caudal regression-sirenomelia spectrum 109009, 117573, 165707, 404577 Clinical group 3169 Sirenomelia 444941 Malformation syndrome 1768 Familial caudal dysgenesis 269531, 269564, 444941 Malformation syndrome 496751 EVEN-plus syndrome 102285, 117573, 253, 330206 Malformation syndrome 93932 FG syndrome type 1 102283, 117573, 269531, 611327 Disease 2345 Isolated Klippel-Feil syndrome 117573, 93454 Malformation syndrome 611201 Oculogastrointestinal-neurodevelopmental syndrome 102283, 117573, 202948, 611327, 90642 Malformation syndrome 93270 Short rib-polydactyly syndrome, Saldino-Noonan type 117573, 1505 Malformation syndrome 684752 Isolated anal canal duplication 684757 Morphological anomaly 171220 Isolated rectal duplication 684757 Morphological anomaly 98041 Visceral malformation of the liver, biliary tract, pancreas or spleen 165711, 93890 Category 108971 Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen 183548, 506216, 98041 Category 2040 Congenital respiratory-biliary fistula 101941, 108971, 108993, 182111 Morphological anomaly 2805 Partial pancreatic agenesis 108971 Morphological anomaly 675 Annular pancreas 108971 Morphological anomaly 674 Accessory pancreas 108971 Morphological anomaly 30391 Isolated biliary atresia 108971, 498345, 506210 Morphological anomaly 53035 Caroli disease 101941, 108971, 156607, 506210 Malformation syndrome 101351 Familial isolated congenital asplenia 108971, 331193 Morphological anomaly 457083 Isolated splenogonadal fusion 108971 Morphological anomaly 693869 Gallblader arteriovenous malformation 108971, 693855 Malformation syndrome 662388 Isolated gallbladder duplication 101941, 108971 Morphological anomaly 688523 Splenic venous malformation 108971, 715334 Disease 693863 Splenic arteriovenous malformation 108971, 693855 Malformation syndrome 693826 Pancreatic arteriovenous malformation 108971, 693855 Malformation syndrome 108973 Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen 183548, 98041 Category 294415 Renal-hepatic-pancreatic dysplasia 101939, 108973, 156162, 156180, 156604, 506213, 93587 Malformation syndrome 2063 Splenogonadal fusion-limb defects-micrognathia syndrome 108973, 139036, 183576, 294955, 404574 Malformation syndrome 244283 Biliary atresia with splenic malformation syndrome 108973, 498350, 506210 Malformation syndrome 689829 Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome 102283, 108973, 202948, 611327 Disease 556955 Pancreatic agenesis-holoprosencephaly syndrome 102283, 108973, 269531, 269564, 611327 Disease 98043 Diaphragmatic or abdominal wall malformation 165711, 93890 Category 108977 Non-syndromic diaphragmatic or abdominal wall malformation 98043 Category 2140 Congenital diaphragmatic hernia 101944, 108977, 180776 Morphological anomaly 660 Omphalocele 108977 Morphological anomaly 695032 Giant omphalocele 660 Clinical subtype 695038 Small omphalocele 660 Clinical subtype 2368 Gastroschisis 108977, 365563 Morphological anomaly 490 Omphalomesenteric cyst 108977 Morphological anomaly 697986 Congenital peritoneal encapsulation 108977 Malformation syndrome 108979 Syndromic diaphragmatic or abdominal wall malformation 98043 Category 280 Wolf-Hirschhorn syndrome 102283, 108979, 166469, 180779, 261884, 611327, 90642, 98642 Malformation syndrome 199 Cornelia de Lange syndrome 102283, 108979, 138055, 139021, 180779, 183570, 294955, 404574, 611327, 98578 Malformation syndrome 287 Classical Ehlers-Danlos syndrome 108979, 167762, 180779, 98249 Disease 1335 Pentalogy of Cantrell 102285, 108979, 180779, 330206 Malformation syndrome 2059 Fryns syndrome 102283, 108979, 611327 Malformation syndrome 2141 Diaphragmatic defect-limb deficiency-skull defect syndrome 102285, 108979, 180779, 330206 Malformation syndrome 2143 Donnai-Barrow syndrome 102283, 108979, 180779, 611327 Malformation syndrome 2369 Limb body wall complex 108979 Malformation syndrome 2470 Matthew-Wood syndrome 102283, 102285, 108979, 108993, 108995, 180779, 182108, 182111, 183622, 202948, 330206, 611327 Malformation syndrome 2736 Lethal omphalocele-cleft palate syndrome 102283, 108979, 139039, 611327 Malformation syndrome 2847 Pericardial and diaphragmatic defect 108979, 183530 Malformation syndrome 3164 Omphalocele syndrome, Shprintzen-Goldberg type 102283, 108979, 611327 Malformation syndrome 209 Cutis laxa 108979, 139027, 139030, 180779, 228215 Clinical group 2078 Geroderma osteodysplastica 209, 93446 Malformation syndrome 2962 De Barsy syndrome 102283, 207018, 209, 289866, 611327, 68385, 79389, 98628, 98644 Disease 35664 ALDH18A1-related De Barsy syndrome 2962 Etiological subtype 293633 PYCR1-related De Barsy syndrome 2962 Etiological subtype 3342 Arterial tortuosity syndrome 209, 285014 Malformation syndrome 198 Occipital horn syndrome 102283, 209, 309839, 611327 Disease 90348 Autosomal dominant cutis laxa 209 Disease 90349 Autosomal recessive cutis laxa type 1 209, 233655 Disease 90350 Autosomal recessive cutis laxa type 2 209, 289866, 93446 Clinical group 357058 Autosomal recessive cutis laxa type 2A 309778, 371071, 371195, 371200, 611314, 90350 Disease 2834 Wrinkly skin syndrome 357058 Clinical subtype 357074 Autosomal recessive cutis laxa type 2, classic type 357058 Clinical subtype 357064 Autosomal recessive cutis laxa type 2B 90350 Disease 217335 RIN2 syndrome 102283, 209, 611327 Malformation syndrome 221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 209 Malformation syndrome 363705 Craniofaciofrontodigital syndrome 102283, 209, 611327, 93453 Disease 314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency 209, 233655 Disease 96170 Emanuel syndrome 108979, 180779, 263708 Malformation syndrome 230839 Classical-like Ehlers-Danlos syndrome type 1 108979, 167762, 180779, 98249 Disease 280403 Familial omphalocele syndrome with facial dysmorphism 108979, 183530 Malformation syndrome 314432 Spigelian hernia-cryptorchidism syndrome 108979 Malformation syndrome 480528 Lethal hydranencephaly-diaphragmatic hernia syndrome 108979, 180779, 269531, 269564, 459787, 471383 Malformation syndrome 98044 Central nervous system malformation 93890, 98006 Category 108989 Non-syndromic central nervous system malformation 98044 Category 2185 Congenital hydrocephalus 108989, 269550 Malformation syndrome 269505 Congenital communicating hydrocephalus 2185 Clinical subtype 269510 Congenital non-communicating hydrocephalus 2185 Clinical subtype 3388 Neural tube defect 108989, 269550 Category 268357 Neural tube closure defect 3388 Category 823 Spina bifida and other spinal dysraphisms 268357 Category 268369 Open spinal dysraphism 823 Clinical group 645270 Open spinal dysraphism with a posterior meningocele 268369, 268744 Clinical group 645378 Myelic limited dorsal malformation 645270, 645319 Morphological anomaly 93969 Open spinal dysraphism with a myelomeningocele 645270 Morphological anomaly 645383 True myelomeningocele 93969 Clinical subtype 645388 Hemi-myelomeningocele 93969 Clinical subtype 645398 Myeloschisis 268369 Morphological anomaly 645401 True myeloschisis 645398 Clinical subtype 645393 Hemi-myeloschisis 645398 Clinical subtype 268744 Spinal dysraphism with a posterior meningocele 823 Clinical group 268810 Isolated posterior meningocele 268744, 645202 Morphological anomaly 268813 Myelocystocele 268744, 645202 Clinical group 645337 Terminal myelocystocele 268813, 645319 Morphological anomaly 645340 Non-terminal myelocystocele 268813 Morphological anomaly 645319 Saccular spinal dysraphism with a stalk to the dome 268744, 645196 Clinical group 645354 Saccular limited dorsal myeloschisis 645319 Morphological anomaly 645202 Closed spinal dysraphism 823 Clinical group 573278 Split cord malformation 268843, 645202 Clinical group 573253 Split cord malformation type II 573278 Morphological anomaly 1671 Split cord malformation type I 573278 Morphological anomaly 633076 Split cord malformation, composite type 573278 Morphological anomaly 656126 Segmental spinal dysgenesis 268843, 645202 Disease 645273 Dysraphic spinal cord lipoma 645202, 645276 Clinical group 645362 Dorsal spinal cord lipoma 645273 Morphological anomaly 645367 Conus spinal cord lipoma 645273 Clinical group 645285 Chaotic conus spinal cord lipoma 645367 Morphological anomaly 645297 Extramedullary conus spinal cord lipoma 645367 Morphological anomaly 645291 Transitional extramedullary conus spinal cord lipoma 645297 Clinical subtype 645288 Terminal extramedullary conus spinal cord lipoma 645297 Clinical subtype 645294 Posterior extramedullary conus spinal cord lipoma 645297 Clinical subtype 645193 Dysraphism with stalk 645202 Clinical group 645334 Retained medullary cord 645193, 645282 Morphological anomaly 645188 Spinal dermal sinus 645193 Morphological anomaly 645196 Limited dorsal myeloschisis 645193 Clinical group 645343 Non-saccular limited dorsal myeloschisis 645196 Morphological anomaly 645310 Fibroneural non-saccular limited dorsal myeloschisis 645343 Histopathological subtype 645300 Lipomatous non-saccular limited dorsal myeloschisis 645343 Histopathological subtype 645282 Anomaly of the filum 268357 Clinical group 645279 Fibrolipomatous filum anomaly 645282 Clinical group 645325 Isolated filum lipoma 645279 Morphological anomaly 645322 Isolated transitional filum lipoma 645279 Morphological anomaly 645276 Spinal cord lipoma 268357 Clinical group 645359 Intramedullary non-dysraphic spinal cord lipoma 645276 Morphological anomaly 268843 Malformation of the neurenteric canal, spinal cord and column 3388 Category 63260 Craniorachischisis 268843 Morphological anomaly 1048 Isolated anencephaly/exencephaly 102283, 268843 Morphological anomaly 563609 Isolated anencephaly 1048 Clinical subtype 563612 Isolated exencephaly 1048 Clinical subtype 63259 Iniencephaly 268843 Morphological anomaly 268363 Open iniencephaly 63259 Clinical subtype 268366 Closed iniencephaly 63259 Clinical subtype 268817 Cephalocele 268843 Clinical group 199647 Isolated encephalocele 268817 Morphological anomaly 268826 Parietal encephalocele 199647 Clinical subtype 268829 Basal encephalocele 199647 Clinical subtype 1931 Frontal encephalocele 199647 Clinical subtype 141118 Nasal encephalocele 156246, 199647 Clinical subtype 268823 Occipital encephalocele 199647 Clinical subtype 268820 Cranial meningocele 268817 Morphological anomaly 2789 Lateral meningocele syndrome 268843 Malformation syndrome 99856 Primary syringomyelia 268843, 3280 Morphological anomaly 99858 Idiopathic syringomyelia 99856 Clinical subtype 370034 Familial syringomyelia 183515, 99856 Clinical subtype 268861 Primary tethered cord syndrome 268843 Morphological anomaly 268865 Neurenteric cyst 268843 Morphological anomaly 268868 Isolated amyelia 268843 Morphological anomaly 268882 Arnold-Chiari malformation type I 268843 Morphological anomaly 397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome 268843 Malformation syndrome 98518 Cranial nerve and nuclear aplasia 108989, 269550 Category 570 Moebius syndrome 102283, 139036, 156224, 183576, 522520, 611327, 98518, 98683 Disease 233 Duane retraction syndrome 519341, 522506, 98518 Malformation syndrome 306527 Isolated hereditary congenital facial paralysis 156224, 98518 Morphological anomaly 306530 Congenital hereditary facial paralysis-variable hearing loss syndrome 156224, 98518 Morphological anomaly 324353 Congenital achiasma 98518 Morphological anomaly 98519 Posterior fossa malformation 108989 Category 98523 Non-syndromic pontocerebellar hypoplasia 166478, 269557, 98519 Clinical group 2524 Pontocerebellar hypoplasia type 2 207012, 98523 Malformation syndrome 2254 Pontocerebellar hypoplasia type 1 207012, 98523 Malformation syndrome 97249 Pontocerebellar hypoplasia type 3 441434, 98523 Malformation syndrome 166063 Pontocerebellar hypoplasia type 4 98523 Malformation syndrome 166073 Pontocerebellar hypoplasia type 6 35696, 98523 Malformation syndrome 284339 Pontocerebellar hypoplasia type 7 102283, 611327, 98523 Malformation syndrome 324569 Pontocerebellar hypoplasia type 8 98523 Malformation syndrome 369920 Pontocerebellar hypoplasia type 9 98523 Malformation syndrome 411493 Pontocerebellar hypoplasia type 10 102283, 611327, 98523 Malformation syndrome 611256 Pontocerebellar hypoplasia type 12 1037, 98523 Malformation syndrome 611247 Pontocerebellar hypoplasia type 11 102283, 611327, 98523 Malformation syndrome 613267 Pontocerebellar hypoplasia type 13 102283, 611327, 98523 Malformation syndrome 613274 Pontocerebellar hypoplasia type 14 102283, 611327, 98523 Malformation syndrome 182061 Cerebellar malformation 98519 Category 59315 Rhombencephalosynapsis 182061 Malformation syndrome 98514 Malformation of the cerebellar vermis 182061 Category 475 Isolated Joubert syndrome 102283, 140874, 269560, 611327, 98514 Malformation syndrome 199630 Isolated cerebellar vermis hypoplasia 98514 Morphological anomaly 269203 Isolated cerebellar vermis agenesis 98514 Morphological anomaly 269206 Isolated total cerebellar vermis agenesis 269203 Clinical subtype 269209 Isolated partial cerebellar vermis agenesis 269203 Clinical subtype 98516 Malformation of the cerebellar hemispheres 182061 Category 269218 Isolated unilateral hemispheric cerebellar hypoplasia 98516 Morphological anomaly 269221 Isolated bilateral hemispheric cerebellar hypoplasia 98516 Morphological anomaly 269224 Global cerebellar malformation 182061 Category 1397 Hydrocephaly-cerebellar agenesis syndrome 269224, 269560, 522548 Malformation syndrome 1398 Isolated cerebellar agenesis 269224 Morphological anomaly 269229 Pontine tegmental cap dysplasia 98519 Morphological anomaly 217 Isolated Dandy-Walker malformation 269557, 98519 Morphological anomaly 269212 Isolated Dandy-Walker malformation with hydrocephalus 217 Clinical subtype 269215 Isolated Dandy-Walker malformation without hydrocephalus 217 Clinical subtype 97252 Mega-cisterna magna 98519 Morphological anomaly 98922 Blake pouch cyst 98519 Morphological anomaly 199633 Non-syndromic cerebral malformation 108989 Category 1665 Sporadic fetal brain disruption sequence 199633 Malformation syndrome 2477 Isolated megalencephaly 199633, 269553 Malformation syndrome 99802 Hemimegalencephaly 166478, 199633, 530313 Malformation syndrome 163209 Non-syndromic cerebral malformation due to abnormal neuronal migration 166478, 199633, 269553 Category 2149 Nodular neuronal heterotopia 102283, 163209, 611327 Morphological anomaly 98892 Periventricular nodular heterotopia 2149 Clinical subtype 101029 Sub-cortical nodular heterotopia 2149 Clinical subtype 101030 Subependymal nodular heterotopia 2149 Clinical subtype 35981 Polymicrogyria 102283, 163209, 611327 Clinical group 268940 Bilateral polymicrogyria 35981 Morphological anomaly 98889 Bilateral perisylvian polymicrogyria 268940 Clinical subtype 101070 Bilateral frontoparietal polymicrogyria 268940 Clinical subtype 208441 Bilateral parasagittal parieto-occipital polymicrogyria 268940 Clinical subtype 208444 Bilateral frontal polymicrogyria 268940 Clinical subtype 208447 Bilateral generalized polymicrogyria 268940 Clinical subtype 268943 Unilateral polymicrogyria 35981 Morphological anomaly 101071 Unilateral hemispheric polymicrogyria 268943 Clinical subtype 268947 Unilateral focal polymicrogyria 268943 Clinical subtype 99796 Subcortical band heterotopia 163209 Morphological anomaly 268950 Cerebral cortical dysplasia 163209 Clinical group 65683 Isolated focal cortical dysplasia 268950 Disease 268961 Isolated focal cortical dysplasia type I 65683 Clinical subtype 268973 Isolated focal cortical dysplasia type Ia 268961 Histopathological subtype 268980 Isolated focal cortical dysplasia type Ib 268961 Histopathological subtype 268987 Isolated focal cortical dysplasia type Ic 268961 Histopathological subtype 268994 Isolated focal cortical dysplasia type II 65683 Clinical subtype 269001 Isolated focal cortical dysplasia type IIa 268994 Histopathological subtype 269008 Isolated focal cortical dysplasia type IIb 268994 Histopathological subtype 280640 Occipital pachygyria and polymicrogyria 163209 Malformation syndrome 300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation 102283, 163209, 611327 Disease 329329 Autosomal recessive frontotemporal pachygyria 163209 Malformation syndrome 2798 Pachygyria-intellectual disability-epilepsy syndrome 102283, 163209, 611327 Malformation syndrome 199642 Isolated congenital microcephaly 199633, 269553 Malformation syndrome 2512 Autosomal recessive primary microcephaly 102283, 199642, 519343, 522508, 611327 Etiological subtype 2514 Autosomal dominant primary microcephaly 102283, 199642, 611327 Etiological subtype 268926 Midline cerebral malformation 199633, 269553 Category 2162 Holoprosencephaly 102283, 166478, 268926, 611327, 95495 Malformation syndrome 93924 Lobar holoprosencephaly 2162 Clinical subtype 93925 Alobar holoprosencephaly 2162 Clinical subtype 93926 Midline interhemispheric variant of holoprosencephaly 2162 Clinical subtype 220386 Semilobar holoprosencephaly 2162 Clinical subtype 280195 Septopreoptic holoprosencephaly 2162 Clinical subtype 1126 Aprosencephaly cerebellar dysgenesis 268926 Malformation syndrome 314621 Duplication of the pituitary gland 181384, 268926 Morphological anomaly 280200 Microform holoprosencephaly 268926 Malformation syndrome 566847 Aprosencephaly/atelencephaly spectrum 268926, 459787 Morphological anomaly 566852 Atelencephaly 566847 Clinical subtype 566857 Aprosencephaly 566847 Clinical subtype 268936 Isolated arhinencephaly 199633 Morphological anomaly 269190 Encephaloclastic disorder 199633, 269553 Clinical group 799 Schizencephaly 166478, 269190, 98683 Disease 485275 Acquired schizencephaly 799 Etiological subtype 481986 Familial schizencephaly 477765, 799 Etiological subtype 2177 Hydranencephaly 269190 Malformation syndrome 2940 Porencephaly 166478, 269190 Disease 99810 Familial porencephaly 2940, 477765 Etiological subtype 314697 Acquired porencephaly 2940 Etiological subtype 319192 Diencephalic-mesencephalic junction dysplasia 199633, 269553 Morphological anomaly 200 Isolated corpus callosum agenesis 199633 Morphological anomaly 269194 Central nervous system cystic malformation 108989 Category 2356 Arachnoid cyst 269194, 269550, 95505 Morphological anomaly 269197 Glioependymal/ependymal cyst 269194 Morphological anomaly 530033 Dermoid or epidermoid cyst of the central nervous system 269194, 269550 Morphological anomaly 108991 Syndrome with a central nervous system malformation as a major feature 98044 Category 48471 Lissencephaly 102283, 108991, 166478, 269564, 611327 Category 1083 Microlissencephaly 199639, 269573, 48471 Morphological anomaly 89844 Lissencephaly syndrome, Norman-Roberts type 1083 Clinical subtype 51577 Cobblestone lissencephaly 48471 Clinical group 352682 Cobblestone lissencephaly without muscular or ocular involvement 51577 Disease 352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies 370953, 51577 Clinical group 272 Congenital muscular dystrophy, Fukuyama type 207122, 309469, 352687, 371071, 371235, 522520, 98638, 98644, 98683 Malformation syndrome 899 Walker-Warburg syndrome 207119, 207122, 209024, 209030, 209033, 309469, 352687, 371071, 371235, 716446 Disease 588 Muscle-eye-brain disease 207119, 207122, 209024, 209033, 309469, 352687, 371071, 371235, 522520, 98638, 98644, 98683 Malformation syndrome 370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy 352687, 371040 Disease 86823 Lissencephaly with cerebellar hypoplasia 48471 Clinical group 100011 Lissencephaly with cerebellar hypoplasia type A 86823 Malformation syndrome 100012 Lissencephaly with cerebellar hypoplasia type B 86823 Malformation syndrome 100013 Lissencephaly with cerebellar hypoplasia type C 86823 Malformation syndrome 100014 Lissencephaly with cerebellar hypoplasia type D 86823 Malformation syndrome 100015 Lissencephaly with cerebellar hypoplasia type E 86823 Malformation syndrome 100016 Lissencephaly with cerebellar hypoplasia type F 86823 Malformation syndrome 102009 Classic lissencephaly 48471 Clinical group 572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome 102009 Malformation syndrome 2148 Lissencephaly type 1 due to doublecortin gene mutation 102009 Disease 531 Miller-Dieker syndrome 102009, 166469, 261965 Malformation syndrome 1084 Isolated lissencephaly type 1 without known genetic defects 102009 Disease 95232 Lissencephaly due to LIS1 mutation 102009 Disease 102010 Other syndrome with lissencephaly as a major feature 48471 Category 2510 Micro syndrome 102010, 199639, 202948, 269528, 269573, 522548, 98641 Malformation syndrome 2995 Baraitser-Winter cerebrofrontofacial syndrome 102010, 98578 Malformation syndrome 452 X-linked lissencephaly with abnormal genitalia 102010, 423655, 98087 Malformation syndrome 102011 Lissencephaly type 3 48471 Clinical group 2671 Neu-Laxova syndrome 102011, 281238, 281241, 35705, 98563 Malformation syndrome 583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency 2671 Etiological subtype 583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency 2671 Etiological subtype 583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency 2671 Etiological subtype 86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome 102011 Malformation syndrome 86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome 102011 Malformation syndrome 171680 Lissencephaly due to TUBA1A mutation 48471 Malformation syndrome 199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature 108991 Category 83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome 102283, 199639, 269573, 611327 Malformation syndrome 50 Aicardi syndrome 166478, 183422, 199639, 269573, 611314, 716299 Disease 1496 Corpus callosum agenesis-neuronopathy syndrome 102283, 199639, 207012, 269573, 611327 Disease 1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome 102283, 199639, 269573, 611327 Malformation syndrome 1777 Temtamy syndrome 102283, 199639, 269573, 611327 Malformation syndrome 3338 Toriello-Carey syndrome 102283, 139039, 199639, 269573, 611327 Malformation syndrome 3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome 102283, 199639, 611327 Malformation syndrome 52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome 102283, 199639, 269573, 519276, 519345, 611327 Malformation syndrome 171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome 102283, 199639, 269573, 611327 Malformation syndrome 275543 L1 syndrome 199639, 269573, 611314 Malformation syndrome 2182 Hydrocephalus with stenosis of the aqueduct of Sylvius 275543 Clinical subtype 2466 MASA syndrome 275543, 98888 Clinical subtype 1497 X-linked complicated corpus callosum dysgenesis 275543 Clinical subtype 306617 X-linked complicated spastic paraplegia type 1 275543 Clinical subtype 423655 ARX-related encephalopathy-brain malformation spectrum 102283, 165707, 182079, 199639, 269573, 611327 Clinical group 2508 Corpus callosum agenesis-abnormal genitalia syndrome 423655 Malformation syndrome 459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome 102283, 199639, 269573, 611327 Malformation syndrome 466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome 102283, 199639, 269523, 269567, 269573, 611327 Malformation syndrome 457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome 102283, 199639, 269567, 611327 Malformation syndrome 467166 Tubulinopathy-associated dysgyria 199639, 269523, 269567, 269573 Disease 694937 Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency 102283, 199639, 207025, 269573, 611327 Malformation syndrome 500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom 102283, 199639, 611327 Malformation syndrome 447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome 199639, 269573, 289494 Clinical subtype 269523 Syndrome with a cerebellar malformation as a major feature 108991 Category 459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome 102283, 253, 269523, 269567, 611327 Malformation syndrome 468699 SLC39A8-CDG 102283, 269523, 269567, 309347, 309851, 611327 Disease 314597 Chudley-McCullough syndrome 269523, 269531, 269567, 90642 Malformation syndrome 443162 NDE1-related microhydranencephaly 269523, 269528, 269531, 269567 Malformation syndrome 2318 Joubert syndrome with oculorenal defect 102283, 140874, 156162, 269523, 269567, 506213, 611327, 716405, 93587 Malformation syndrome 1454 Joubert syndrome with hepatic defect 101939, 102283, 140874, 156162, 156165, 156604, 269523, 269567, 611327 Disease 1532 Gómez-López-Hernández syndrome 102283, 269523 Malformation syndrome 2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome 269523, 716405 Malformation syndrome 2754 Orofaciodigital syndrome type 6 102283, 140874, 140997, 269523, 269567, 611327, 90642 Malformation syndrome 2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome 269523 Malformation syndrome 3322 Hoyeraal-Hreidarsson syndrome 269523, 269567, 331217, 611314, 68383 Disease 3469 XK aprosencephaly syndrome 269523 Malformation syndrome 65285 Lhermitte-Duclos disease 251934, 269523, 269567, 306498 Clinical subtype 65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome 224, 269523, 269567 Malformation syndrome 85186 Endosteal sclerosis-cerebellar hypoplasia syndrome 269523, 269567, 93444 Malformation syndrome 137831 X-linked intellectual disability-cerebellar hypoplasia syndrome 102283, 166478, 269523, 269567, 611327 Disease 163937 X-linked intellectual disability, Najm type 102283, 269523, 269567, 522548, 611327, 98641 Disease 163961 X-linked cerebral-cerebellar-coloboma syndrome 102283, 269523, 269567, 611327 Disease 220493 Joubert syndrome with ocular defect 102283, 140874, 156165, 269523, 269567, 611327, 716405 Malformation syndrome 220497 Joubert syndrome with renal defect 102283, 140874, 156162, 156180, 269523, 269567, 506213, 611327, 93587 Malformation syndrome 269546 Syndrome with a Dandy-Walker malformation as a major feature 269523 Category 7 3C syndrome 102283, 269546, 269570, 611327 Malformation syndrome 916 Aase-Smith syndrome type 1 102285, 139039, 269546, 269570, 330206 Malformation syndrome 1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome 102283, 269546, 269567, 522520, 611327, 98683 Malformation syndrome 1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome 102283, 269546, 269570, 611327 Malformation syndrome 2218 Cervical hypertrichosis-peripheral neuropathy syndrome 269546, 269570, 79365 Disease 2427 Macrocephaly-short stature-paraplegia syndrome 102283, 269546, 611327 Malformation syndrome 73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome 207012, 269546 Malformation syndrome 79332 B4GALT1-CDG 269546, 269570, 309526, 371047, 371157, 371235 Disease 1566 Dandy-Walker malformation-postaxial polydactyly syndrome 269546, 269570, 294959 Malformation syndrome 370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome 269523, 269567, 611314, 98688 Disease 397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome 102283, 269523, 269567, 611327 Malformation syndrome 401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome 166478, 269523, 269567 Malformation syndrome 444072 Cerebellar-facial-dental syndrome 102283, 164001, 269523, 269567, 420755, 611327 Malformation syndrome 300573 Polymicrogyria due to TUBB2B mutation 102283, 269523, 269531, 269567, 611327 Malformation syndrome 480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome 102283, 269523, 269567, 519343, 522508, 611327 Disease 495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome 102283, 165707, 269523, 269567, 611327, 98628 Malformation syndrome 529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome 102283, 269523, 269567, 611327 Malformation syndrome 2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome 102285, 269523, 269567, 330206, 458830 Malformation syndrome 611223 EN1-related dorsoventral syndrome 269523, 269567, 93438 Malformation syndrome 615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome 269523, 459787, 471383 Clinical syndrome 615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation 615954 Etiological subtype 615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster 261857, 615954 Etiological subtype 693549 Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome 102283, 269523, 611327 Malformation syndrome 269528 Syndrome with microcephaly as a major feature 108991, 269564 Category 572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus 102283, 262019, 269528, 611327, 98575, 98578 Malformation syndrome 481152 PYCR2-related microcephaly-progressive leukoencephalopathy 102283, 269528, 611327 Malformation syndrome 3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome 102283, 269528, 498454, 522548, 611327, 98641 Malformation syndrome 1270 Bowen-Conradi syndrome 102283, 269528, 611327 Malformation syndrome 2522 Microcephaly-cervical spine fusion anomalies syndrome 102283, 269528, 611327 Malformation syndrome 2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome 102283, 269528, 611327 Malformation syndrome 2526 Microcephaly-lymphedema-chorioretinopathy syndrome 2416, 269528, 611314, 716342 Malformation syndrome 2528 Microcephaly-microcornea syndrome, Seemanova type 102283, 269528, 522548, 611327, 98641 Malformation syndrome 99742 Amish lethal microcephaly 269528, 298644 Malformation syndrome 293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome 181387, 269528, 90642 Malformation syndrome 294016 Microcephaly-capillary malformation syndrome 211247, 269528, 458830 Malformation syndrome 306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome 166478, 181381, 183625, 269528 Disease 313795 Jawad syndrome 102283, 269528, 611327 Malformation syndrome 324761 Microcephalic primordial dwarfism 102283, 269528, 611327 Clinical group 808 Seckel syndrome 324761, 93440 Malformation syndrome 2554 Ear-patella-short stature syndrome 139036, 183576, 324761, 93440, 93455 Malformation syndrome 2643 Microcephalic primordial dwarfism, Toriello type 324761, 522548, 93440, 98641 Malformation syndrome 2636 Microcephalic osteodysplastic primordial dwarfism types I and III 324761, 93440, 98638 Malformation syndrome 2637 Microcephalic osteodysplastic primordial dwarfism type II 240371, 324761, 477771, 93440 Malformation syndrome 85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type 324761, 522548, 93440, 98641 Disease 319671 Alazami syndrome 324761 Malformation syndrome 319675 Microcephalic primordial dwarfism, Dauber type 324761 Malformation syndrome 329228 Microcephalic primordial dwarfism due to ZNF335 deficiency 324761 Malformation syndrome 468631 Microcephalic cortical malformations-short stature due to RTTN deficiency 324761 Malformation syndrome 658595 DNMT3A-related microcephalic dwarfism 324761 Malformation syndrome 572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum 139021, 183570, 324761, 93440 Malformation syndrome 572768 Microcephaly-micromelia syndrome 572761 Clinical subtype 572773 Microcephaly-short stature-limb abnormalities syndrome 572761 Clinical subtype 329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome 102283, 269528, 611327 Malformation syndrome 391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome 102283, 181376, 183625, 269528, 611327 Disease 402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly 269528 Malformation syndrome 404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome 166478, 269528 Malformation syndrome 434179 Orofaciodigital syndrome type 14 102283, 140997, 269528, 611327 Malformation syndrome 477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome 269528, 331217, 519343, 522508, 611314 Malformation syndrome 662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome 102283, 269528, 611327 Malformation syndrome 662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome 102283, 269528, 611327, 90642 Malformation syndrome 664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome 102283, 1037, 269528, 611327 Malformation syndrome 659642 Rauch-Steindl syndrome 102283, 139021, 183570, 269528, 611327 Malformation syndrome 684240 Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome 166472, 269528, 494457, 496916, 611314 Malformation syndrome 699844 Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome 102283, 269528, 611327 Malformation syndrome 633035 Intellectual disability-early-onset cataract-microcephaly syndrome 102283, 269528, 611327, 98641 Malformation syndrome 269531 Other syndrome with a central nervous system malformation as a major feature 108991 Category 529574 Duane retraction syndrome with congenital deafness 269531, 269564, 519341, 522506, 90642 Malformation syndrome 2744 Horizontal gaze palsy with progressive scoliosis 269531, 269564, 522520, 93454, 98683 Disease 3176 Spina bifida-hypospadias syndrome 165707, 269531 Malformation syndrome 1647 Oculocerebrocutaneous syndrome 166478, 202948, 269531 Malformation syndrome 2065 Galloway-Mowat syndrome 102283, 269531, 567562, 611327 Malformation syndrome 2184 Hydrocephaly-low insertion umbilicus syndrome 269531, 269564 Malformation syndrome 2165 Holoprosencephaly-caudal dysgenesis syndrome 269531 Malformation syndrome 2189 Hydrolethalus 139039, 269531, 269564, 363250 Malformation syndrome 2351 Kousseff syndrome 269531 Malformation syndrome 2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome 269531, 459787, 471383 Malformation syndrome 3157 Septo-optic dysplasia spectrum 137905, 269531, 269564, 441434, 611314, 95495 Malformation syndrome 63862 Schisis association 269531 Malformation syndrome 66625 Cerebrooculonasal syndrome 102283, 269531, 269564, 611327 Malformation syndrome 210548 Macrocephaly-intellectual disability-autism syndrome 102283, 180772, 269531, 269564, 611327 Disease 221126 Fowler vasculopathy 269531, 269564 Malformation syndrome 247198 Progressive cerebello-cerebral atrophy 269531, 269564 Disease 250972 Polymicrogyria with optic nerve hypoplasia 102283, 137905, 166478, 269531, 269564, 611327 Malformation syndrome 251383 CK syndrome 269531, 269564, 611314, 79195 Malformation syndrome 306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome 269531, 269564 Malformation syndrome 314993 Cataract-congenital heart disease-neural tube defect syndrome 269531, 269564, 522548, 98641 Malformation syndrome 356961 SLC35A2-CDG 269531, 269564, 309526, 371071, 371235, 611314 Disease 443988 Ventriculomegaly-cystic kidney disease 269531, 506213, 93587 Disease 2117 Hartsfield syndrome 102283, 139039, 269531, 269564, 498477, 611327 Malformation syndrome 500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome 102283, 269531, 269564, 611327, 90642 Malformation syndrome 500150 ZTTK syndrome 102283, 269531, 269564, 611327 Malformation syndrome 1861 Thoracic dysplasia-hydrocephalus syndrome 182108, 269531, 269564, 93426 Malformation syndrome 544469 PRUNE1-related neurological syndrome 102283, 269531, 269564, 611327 Malformation syndrome 610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome 102283, 1037, 269531, 269564, 611327 Disease 664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome 102283, 269531, 611327 Malformation syndrome 228384 5q14.3 microdeletion syndrome 166469, 262038, 664410 Etiological subtype 664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation 664410 Etiological subtype 662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome 102283, 269531, 611327 Malformation syndrome 662207 Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome 102283, 269531, 611327 Malformation syndrome 659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome 102283, 269531, 611327 Malformation syndrome 603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome 102283, 269531, 269564, 611327 Malformation syndrome 98045 Respiratory or mediastinal malformation 93890 Category 108993 Non-syndromic respiratory or mediastinal malformation 183554, 97962, 98045 Category 2414 Congenital pulmonary lymphangiectasia 108993, 182111, 264683, 264992 Disease 2444 Congenital pulmonary airway malformation 108993, 182111 Malformation syndrome 280827 Congenital pulmonary airway malformation type 0 2444 Clinical subtype 280832 Congenital pulmonary airway malformation type 1 2444 Clinical subtype 280840 Congenital pulmonary airway malformation type 2 2444 Clinical subtype 280847 Congenital pulmonary airway malformation type 3 2444 Clinical subtype 280854 Congenital pulmonary airway malformation type 4 2444 Clinical subtype 3346 Tracheal agenesis 108993, 156252, 182111 Morphological anomaly 984 Pulmonary agenesis 108993, 182111 Morphological anomaly 1928 Congenital lobar emphysema 108993, 182111, 183622 Morphological anomaly 2257 Primary pulmonary hypoplasia 108993, 182111, 183622 Morphological anomaly 2038 Pulmonary arteriovenous malformation 101944, 108993, 182111, 693855 Morphological anomaly 3161 Congenital pulmonary sequestration 108993, 182111 Malformation syndrome 280802 Intralobar congenital pulmonary sequestration 3161 Clinical subtype 280811 Extralobar congenital pulmonary sequestration 3161 Clinical subtype 280821 Communicating congenital bronchopulmonary-foregut malformation 3161 Clinical subtype 70589 Bronchopulmonary dysplasia 108993, 182111 Malformation syndrome 95430 Congenital tracheomalacia 108993, 156252, 182111, 435612 Morphological anomaly 411501 Williams-Campbell syndrome 108993, 182111 Morphological anomaly 700286 Congenital high airway obstruction syndrome 108993, 182111 Clinical syndrome 649014 Bronchial malformation 108993, 182111 Clinical group 648992 Non-syndromic bridging bronchus 649014 Morphological anomaly 649010 Non-syndromic congenital bronchial atresia 649014 Morphological anomaly 649029 Isolated left bronchial isomerism 649014 Morphological anomaly 2357 Bronchogenic cyst 649014 Morphological anomaly 108995 Syndromic respiratory or mediastinal malformation 97962, 98045 Category 994 Fetal akinesia deformation sequence 102285, 1037, 108993, 108995, 182108, 330206 Malformation syndrome 1120 Lung agenesis-heart defect-thumb anomalies syndrome 108993, 108995, 182111, 183622 Malformation syndrome 1486 Lethal congenital contracture syndrome type 1 102285, 108993, 108995, 182108, 294965, 330206 Malformation syndrome 2407 Laryngo-onycho-cutaneous syndrome 108993, 108995, 182111, 183622, 305, 522542, 98027, 98610 Disease 3035 Growth delay-hydrocephaly-lung hypoplasia syndrome 108995, 182111, 183622 Malformation syndrome 98196 Malformation syndrome with hamartosis 183530, 93890 Category 892 Von Hippel-Lindau disease 100091, 100094, 156162, 183503, 252190, 319328, 71281, 93587, 98196, 98638 Disease 377 Gorlin syndrome 140162, 183487, 252190, 79386, 98027, 98196 Malformation syndrome 2869 Peutz-Jeghers syndrome 104010, 183422, 183466, 271835, 363314, 589746, 79375, 98196 Disease 774 Hereditary hemorrhagic telangiectasia 101938, 102006, 139027, 182111, 182222, 183478, 183622, 211266, 371436, 459526, 79379, 98196, 98610 Disease 1775 Dyskeratosis congenita 140162, 183466, 222628, 331217, 519274, 611314, 68383, 79373, 79375, 98196 Disease 2612 Linear nevus sebaceus syndrome 294057, 622914, 98196 Disease 3205 Sturge-Weber syndrome 102006, 156237, 166466, 166487, 211247, 458830, 611314, 693802, 716459, 717348, 79379, 93460, 98196, 98638 Malformation syndrome 805 Tuberous sclerosis complex 156162, 166466, 180772, 183422, 183481, 183487, 252190, 319328, 506213, 568047, 611314, 79380, 79386, 93587, 98196 Disease 1062 Hereditary neurocutaneous malformation 102006, 166487, 371436, 459543, 673470, 98196 Disease 2092 Focal dermal hypoplasia 102283, 183481, 519292, 522554, 611327, 79373, 79380, 98196, 98655 Malformation syndrome 296 Ollier disease 140162, 183527, 68411, 93450, 93460, 98196 Disease 2874 Phakomatosis pigmentokeratotica 294057, 622914, 98196 Malformation syndrome 2875 Phakomatosis pigmentovascularis 183466, 211247, 79375, 98196, 98638 Disease 79483 Phakomatosis cesioflammea 2875 Clinical subtype 79484 Phakomatosis cesiomarmorata 2875 Clinical subtype 79485 Phakomatosis spilorosea 2875 Clinical subtype 64755 Becker nevus syndrome 180173, 294057, 622914, 98196 Disease 93921 Full schwannomatosis 183466, 506213, 634518, 79375, 98196 Disease 163634 Maffucci syndrome 140162, 183478, 183527, 211252, 459537, 68411, 79379, 93450, 93460, 98196 Disease 276280 Hemihyperplasia-multiple lipomatosis syndrome 156237, 183487, 458830, 530313, 79386, 98196 Malformation syndrome 306498 PTEN hamartoma tumor syndrome 183422, 183487, 79386, 98196 Disease 201 Cowden syndrome 104010, 271835, 294057, 306498, 589746, 622914 Clinical subtype 109 Bannayan-Riley-Ruvalcaba syndrome 102283, 104010, 211277, 306498, 363314, 459537, 611327, 93460 Clinical subtype 2969 Proteus-like syndrome 294057, 306498, 519286, 522548, 522568, 622914, 98641 Clinical subtype 137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome 211277, 294057, 306498, 459537, 622914, 93460 Clinical subtype 90308 Capillary-lymphatic-venous malformation with segmental distribution 183478, 211252, 459537, 715460, 79379, 98196 Disease 98553 Developmental defect of the eye 93890 Category 83461 Congenital primary aphakia 183557, 183607, 98553, 98639 Malformation syndrome 137905 Syndromic optic nerve hypoplasia 183557, 519351, 522512, 98553 Category 603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome 137905, 202948, 2781, 284811, 90642 Malformation syndrome 519333 Congenital optic disc excavation 519351, 98553 Category 519400 Peripapillary staphyloma 519333 Morphological anomaly 519404 Optic disc pit 519333 Morphological anomaly 98947 Coloboma of optic disc 519333, 522514 Morphological anomaly 464760 Familial cavitary optic disc anomaly 519333, 522514 Morphological anomaly 35737 Morning glory disc anomaly 519333, 522514, 522520, 98683 Morphological anomaly 519402 Isolated megalopapilla 519333 Morphological anomaly 519345 Rare disorder with optic disc malformation 183557, 519351, 522512, 98553 Category 324737 SRD5A3-CDG 309526, 371047, 371200, 519345, 611314 Disease 435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome 519345 Disease 98560 Rare palpebral disorder 519266, 98553 Category 98561 Congenital malformation of the eyelid 522526, 98560 Category 98562 Cryptophthalmia 98561 Category 91396 Isolated cryptophthalmia 98562 Morphological anomaly 98948 Congenital symblepharon 91396 Clinical subtype 98949 Complete cryptophthalmia 91396 Clinical subtype 98950 Partial cryptophthalmia 91396 Clinical subtype 98563 Microblepharon-ablephara syndrome 98561 Clinical group 920 Ablepharon macrostomia syndrome 102283, 139039, 611327, 98563 Malformation syndrome 98564 Eyelid border anomaly 98561 Category 91397 Isolated ankyloblepharon filiforme adnatum 156237, 98564 Morphological anomaly 98565 Syndromic ankyloblepharon filiforme adnatum 98564 Category 294963 Popliteal pterygium syndrome 109007, 156237, 98565 Clinical group 1234 Bartsocas-Papas syndrome 294963, 459787, 471383, 79373, 98566 Malformation syndrome 1300 Autosomal dominant popliteal pterygium syndrome 102283, 294963, 611327 Malformation syndrome 1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome 156237, 294955, 404574, 79373, 98565 Malformation syndrome 1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome 1071 Clinical subtype 1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome 1071 Clinical subtype 1791 Frontofacionasal dysplasia 102285, 139036, 141234, 183576, 250, 330206, 98565, 98566 Malformation syndrome 85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome 102283, 202948, 611327, 98565 Malformation syndrome 98566 Syndromic eyelid coloboma 98564 Category 861 Treacher-Collins syndrome 102285, 138050, 139036, 155899, 183576, 330206, 522520, 90642, 98566, 98576, 98578, 98683 Malformation syndrome 245 Nager syndrome 102285, 138050, 139036, 183576, 330206, 364574, 98566, 98576 Malformation syndrome 246 Postaxial acrofacial dysostosis 102285, 139036, 156237, 183576, 330206, 364574, 98566, 98571 Malformation syndrome 2399 Nasopalpebral lipoma-coloboma syndrome 102285, 330206, 98566 Malformation syndrome 2717 Oculotrichoanal syndrome 102285, 330206, 98566 Malformation syndrome 98946 Coloboma of eyelid 98564 Morphological anomaly 99176 Congenital eyelid retraction 98561 Morphological anomaly 98567 Rare eyelid malposition disorder 98560 Category 98578 Rare disorder with ptosis 522528, 98567 Category 596 X-linked centronuclear myopathy 207110, 595, 611314, 98578 Disease 2308 Jacobsen syndrome 262092, 331220, 477794, 98578 Malformation syndrome 606 Proximal myotonic myopathy 181441, 206647, 522548, 98578, 98641 Disease 270 Oculopharyngeal muscular dystrophy 206644, 519347, 522522, 98578 Disease 1876 Oculogastrointestinal muscular dystrophy 104009, 519347, 522522, 98578 Disease 127 Borjeson-Forssman-Lehmann syndrome 102283, 166472, 240371, 611327, 98578 Malformation syndrome 1323 Camptodactyly-joint contractures-facial skeletal defects syndrome 102285, 330206, 364568, 98578 Malformation syndrome 2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome 102285, 330206, 522520, 98578, 98683 Malformation syndrome 2980 Acrootoocular syndrome 519339, 98578 Malformation syndrome 2997 Ptosis-vocal cord paralysis syndrome 98578 Malformation syndrome 2999 Ptosis-strabismus-ectopic pupils syndrome 519286, 522520, 522568, 98578, 98683 Malformation syndrome 663 Mitochondrial DNA-related progressive external ophthalmoplegia 206966, 254767, 520820, 68385, 98578 Disease 298 Mitochondrial neurogastrointestinal encephalomyopathy 104013, 206966, 225700, 225703, 352456, 519347, 522522, 611314, 79193, 98578 Disease 590 Congenital myasthenic syndrome 519347, 522522, 98495, 98578 Disease 716913 Ubiquitously expressed proteins associated congenital myasthenic syndrome 590 Etiological subtype 353327 Congenital myasthenic syndrome with glycosylation defect 309347, 371047, 716913 Etiological subtype 716917 Congenital myasthenic syndrome with mitochondrial defect 716913 Etiological subtype 98913 Postsynaptic congenital myasthenic syndrome 590, 98738 Etiological subtype 716742 Congenital myasthenic syndrome with kinetic defect 98913 Etiological subtype 716758 Fast-channel congenital myasthenic syndrome 716742 Etiological subtype 716765 Slow-channel congenital myasthenic syndrome 716742 Etiological subtype 716772 Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance 716742 Etiological subtype 716816 Congenital myasthenic syndrome with primary acetylcholine receptor deficiency 98913 Etiological subtype 716881 Congenital myasthenic syndrome due to a sodium channel 1.4 defect 98913 Etiological subtype 716825 Congenital myasthenic syndrome due to defects in endplate development and maintenance 98913 Etiological subtype 98914 Presynaptic congenital myasthenic syndromes 590, 611314 Etiological subtype 716899 Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis 98914 Etiological subtype 716908 Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis 716899 Etiological subtype 716903 Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis 716899 Etiological subtype 716889 Congenital myasthenic syndromes due to defective axonal transport 98914 Etiological subtype 716893 Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine 98914 Etiological subtype 98915 Synaptic congenital myasthenic syndrome 590 Etiological subtype 230 Dopamine beta-hydroxylase deficiency 182058, 309830, 448426, 68385, 98578 Disease 45358 Congenital fibrosis of extraocular muscles 206644, 522520, 98578, 98683 Disease 46627 Char syndrome 102283, 611327, 98578 Malformation syndrome 91412 Marcus-Gunn syndrome 98578 Disease 98951 Inverse Marcus-Gunn phenomenon 91412 Clinical subtype 101104 Marin-Amat syndrome 91412 Clinical subtype 91413 Congenital Horner syndrome 519286, 522568, 98578 Disease 98897 Oculopharyngodistal myopathy 206644, 206650, 206653, 519347, 522522, 98578 Disease 228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome 519274, 98578 Malformation syndrome 126 Blepharophimosis-ptosis-epicanthus inversus syndrome 98575, 98578 Malformation syndrome 572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 126, 399853, 400022, 485382, 95710 Clinical subtype 572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 126 Clinical subtype 293642 Blepharophimosis-intellectual disability syndrome 102283, 611327, 98578 Clinical group 637013 SMARCA2-related blepharophimosis-intellectual disability syndrome 293642 Malformation syndrome 1620 Distal deletion 3p syndrome 261875, 293642 Malformation syndrome 2728 Blepharophimosis-intellectual disability syndrome, Ohdo type 293642 Malformation syndrome 3047 Blepharophimosis-intellectual disability syndrome, SBBYS type 177107, 293642, 597749 Malformation syndrome 293707 Blepharophimosis-intellectual disability syndrome, MKB type 293642 Malformation syndrome 293725 Blepharophimosis-intellectual disability syndrome, Verloes type 293642 Malformation syndrome 700160 ADNP-related blepharophimosis-intellectual disability syndrome 293642 Disease 91411 Congenital ptosis 98578 Disease 502430 Weiss-Kruszka Syndrome 102283, 611327, 98578 Malformation syndrome 99169 Epiblepharon 522528, 98567 Morphological anomaly 99172 Euryblepharon 522528, 98567 Morphological anomaly 519268 Rare disorder with ectropion 522528, 98567 Category 98570 Congenital ectropion 519268 Category 1997 Blepharo-cheilo-odontic syndrome 102285, 139039, 139042, 183580, 330206, 79373, 98570 Malformation syndrome 99171 Isolated congenital ectropion 98570 Morphological anomaly 357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome 139036, 155899, 183576, 98570 Disease 98571 Secondary ectropion 519268 Category 1231 Barber-Say syndrome 102285, 330206, 79365, 79373, 98571 Malformation syndrome 2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome 281238, 611314, 79373, 98571 Disease 910 Xeroderma pigmentosum 139027, 139033, 183422, 183490, 363245, 519270, 522530, 522548, 611314, 79390, 98097, 98571, 98641 Disease 90342 Xeroderma pigmentosum variant 139027, 139033, 183422, 183490, 363245, 519270, 522530, 79390, 98571 Disease 220295 Xeroderma pigmentosum-Cockayne syndrome complex 139027, 139033, 183422, 183490, 363245, 519270, 522530, 611314, 716405, 79389, 79390, 90642, 98097, 98571 Disease 281097 Autosomal recessive congenital ichthyosis 281082, 98571 Clinical group 281127 Acral self-healing collodion baby 281097 Disease 281122 Self-improving collodion baby 281097 Disease 457 Harlequin ichthyosis 281097 Disease 79394 Congenital ichthyosiform erythroderma 281097 Disease 100976 Bathing suit ichthyosis 281097 Disease 313 Lamellar ichthyosis 281097 Disease 289586 Exfoliative ichthyosis 250811, 281097 Disease 519270 Rare disorder with entropion 98567 Category 99170 Tarsal kink syndrome 519270, 522530 Morphological anomaly 519386 Isolated congenital entropion 519270 Morphological anomaly 519390 Isolated blepharochalasis 98567 Disease 1253 Ascher syndrome 102285, 139027, 330206, 522528, 98567 Malformation syndrome 46486 Mucous membrane pemphigoid 79669, 98567 Disease 98574 Syndromic epicanthus 522528, 98567 Category 1705 Distal duplication 14q syndrome 262941, 98574 Malformation syndrome 281 Monosomy 5p syndrome 261893, 98574, 98642 Malformation syndrome 1587 Monosomy 13q14 syndrome 262101, 98574, 98642 Malformation syndrome 559 Marinesco-Sjögren syndrome 207028, 522520, 522548, 611314, 98098, 98574, 98641, 98683 Disease 48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome 102283, 140459, 207028, 522548, 611327, 98098, 98574, 98641 Malformation syndrome 98575 Syndromic telecanthus 522528, 98567 Category 894 Waardenburg syndrome type 1 3440, 98575 Clinical subtype 896 Waardenburg syndrome type 3 3440, 98575 Clinical subtype 2707 Oculocerebrofacial syndrome, Kaufman type 102283, 611327, 98575 Malformation syndrome 98576 Syndromic outer canthal malposition 522528, 98567 Category 98594 Rare eyebrow/eyelash disorder 183557, 519266, 522524, 98553 Category 33001 Lymphedema-distichiasis syndrome 289825, 522548, 98594, 98641 Malformation syndrome 99177 Isolated distichiasis 98594 Morphological anomaly 98605 Lacrimal drainage system anomaly 98553, 98602 Category 141083 Nasolacrimal duct cyst 156246, 98605 Morphological anomaly 451612 Familial congenital nasolacrimal duct obstruction 156246, 435606, 522534, 98605 Morphological anomaly 519274 Syndromic lacrimal system disorder 522534, 98605 Category 98606 Syndromic orbital border hypoplasia 519274 Malformation syndrome 519272 Structural developmental eye defect 520814, 98553 Category 2484 Melnick-Needles syndrome 102285, 330206, 364541, 519272, 519296, 522536 Malformation syndrome 98555 Microphthalmia-anophthalmia-coloboma 519272, 522536 Category 2542 Isolated microphthalmia-anophthalmia-coloboma 98555 Clinical group 35612 Nanophthalmos 2542, 522520, 525677, 98631, 98683 Malformation syndrome 98938 Colobomatous microphthalmia 2542 Malformation syndrome 202948 Syndromic microphthalmia-anophthalmia-coloboma 98555 Category 568 Microphthalmia, Lenz type 102283, 202948, 611327, 98655 Malformation syndrome 1106 Microphthalmia with limb anomalies 102283, 202948, 611327 Malformation syndrome 1466 COFS syndrome 191, 202948, 98649 Clinical subtype 1806 Ectodermal dysplasia-blindness syndrome 202948, 79373 Malformation syndrome 2712 Oculofaciocardiodental syndrome 102283, 139042, 183580, 202948, 522548, 611327, 98638, 98641 Malformation syndrome 3434 MMEP syndrome 102283, 202948, 611327 Malformation syndrome 77299 Microphthalmia-brain atrophy syndrome 102283, 182070, 183500, 202948, 611327 Malformation syndrome 139471 Microphthalmia with brain and digit anomalies 102283, 202948, 522548, 611327, 98641 Malformation syndrome 157962 Oculoauricular syndrome, Schorderet type 202948 Malformation syndrome 178364 Syndromic microphthalmia type 5 202948 Malformation syndrome 251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome 202948, 716405 Disease 363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome 102283, 202948, 240371, 611327 Disease 424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome 139021, 183570, 202948, 93438 Malformation syndrome 431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome 102283, 139021, 183570, 202948, 611327 Malformation syndrome 2432 Macrosomia-microphthalmia-cleft palate syndrome 139039, 202948, 459787, 471383 Malformation syndrome 2547 Microphthalmia-microtia-fetal akinesia syndrome 1037, 202948, 459787, 471383 Malformation syndrome 466682 Euthyroid Graves orbitopathy 519272 Disease 468672 Colobomatous macrophthalmia-microcornea syndrome 519272, 522536 Disease 659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome 102283, 519272, 522536, 611327 Malformation syndrome 519384 Congenital cystic eye 519272 Morphological anomaly 363396 High myopia-sensorineural deafness syndrome 519272, 522536, 90642 Disease 88632 Anterior segment developmental anomaly 183557, 519284, 522538, 98553 Category 98634 Anterior segment developmental anomaly without extraocular manifestations 522540, 525677, 88632, 98631 Category 69736 Bilateral acute depigmentation of the iris 98634 Disease 98978 Axenfeld anomaly 98634 Morphological anomaly 250923 Isolated aniridia 522548, 98634, 98641 Morphological anomaly 519388 Autosomal recessive anterior segment dysgenesis 98634 Malformation syndrome 708 Peters anomaly 98634 Morphological anomaly 91483 Rieger anomaly 98634 Morphological anomaly 566 Congenital microcoria 98634 Malformation syndrome 91491 Congenital ectropion uveae 98634 Malformation syndrome 98944 Coloboma of iris 98634 Morphological anomaly 488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome 716405, 98634 Disease 519392 Isolated iridoschisis 98634 Disease 519276 Anterior segment developmental anomaly with extraocular manifestations 522540, 88632 Category 139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome 519276, 716299 Malformation syndrome 1473 Uveal coloboma-cleft lip and palate-intellectual disability 102283, 139039, 519276, 611327 Malformation syndrome 2090 GMS syndrome 102283, 519276, 611327 Malformation syndrome 2670 Pierson syndrome 519276, 567562 Malformation syndrome 3163 SHORT syndrome 102283, 139021, 139033, 181368, 183570, 363245, 519276, 519286, 522568, 611327, 98305, 98622, 98638 Malformation syndrome 96125 Distal deletion 6p syndrome 102283, 261902, 519276, 611327, 98638 Malformation syndrome 98557 Syndromic aniridia 519276 Category 1065 Aniridia-cerebellar ataxia-intellectual disability syndrome 611314, 98557 Malformation syndrome 1069 Aniridia-absent patella syndrome 98557, 98638 Malformation syndrome 1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome 102283, 519286, 522568, 611327, 98557 Malformation syndrome 1068 Aniridia-intellectual disability syndrome 102283, 519292, 522548, 522554, 611327, 98557, 98641 Malformation syndrome 2321 Jung syndrome 177107, 519276 Malformation syndrome 91492 Early onset non-syndromic cataract 183557, 522546, 98553, 98640 Disease 98992 Early-onset partial cataract 91492 Clinical subtype 98984 Pulverulent cataract 98992 Clinical subtype 98988 Early-onset anterior polar cataract 98992 Clinical subtype 98990 Coralliform cataract 98992 Clinical subtype 98993 Early-onset posterior polar cataract 98992 Clinical subtype 98995 Early-onset zonular cataract 98992 Clinical subtype 98985 Early-onset sutural cataract 98995 Clinical subtype 98991 Early-onset nuclear cataract 98995 Clinical subtype 441452 Early-onset lamellar cataract 98995 Clinical subtype 98989 Cerulean cataract 98992 Clinical subtype 441447 Early-onset posterior subcapsular cataract 98992 Clinical subtype 98994 Total early-onset cataract 91492 Clinical subtype 98652 Lens size anomaly 98553, 98639 Category 519294 Syndromic microspherophakia 522550, 98652 Category 2551 Microspherophakia-metaphyseal dysplasia syndrome 519292, 519294, 522548, 522554, 98641 Malformation syndrome 3449 Weill-Marchesani syndrome 102285, 330206, 519292, 519294, 522554, 93436, 98638 Malformation syndrome 85194 Spondylo-ocular syndrome 102283, 519294, 522548, 611327, 716446, 93446, 98641 Malformation syndrome 363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome 139027, 281244, 519294 Disease 3086 Autosomal dominant vitreoretinochoroidopathy 519294, 716441 Disease 2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome 519292, 519294, 522554 Malformation syndrome 519396 Isolated microspherophakia 98652 Morphological anomaly 98653 Lens position anomaly 98553, 98639 Category 1885 Isolated ectopia lentis 284993, 522552, 98653 Malformation syndrome 519292 Syndromic ectopia lentis 98653 Category 231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome 519292 Malformation syndrome 558 Marfan syndrome 139030, 284993, 285014, 498448, 519292, 522554, 522564, 98623 Disease 284963 Marfan syndrome type 1 558 Clinical subtype 284973 Marfan syndrome type 2 558 Clinical subtype 171844 Blindness-scoliosis-arachnodactyly syndrome 139030, 519292, 522554, 716405 Malformation syndrome 412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome 519292, 522554 Malformation syndrome 1259 Blepharoptosis-myopia-ectopia lentis syndrome 519292, 522554, 98638 Disease 2325 Epidermolysis bullosa simplex with anodontia/hypodontia 519292, 522554, 595351, 98027 Malformation syndrome 394 Homocystinuria due to cystathionine beta-synthase deficiency 139009, 225689, 519292, 522554, 611314, 68385, 79173, 98638, 98644 Disease 833 Encephalopathy due to sulfite oxidase deficiency 139009, 225689, 519292, 522554, 611314, 68385, 79173 Disease 99731 Isolated sulfite oxidase deficiency 833 Clinical subtype 99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency 309833, 833 Clinical subtype 308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A 99732 Etiological subtype 308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B 99732 Etiological subtype 308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C 99732 Etiological subtype 560 Marshall syndrome 102285, 253, 330206, 519292, 522548, 522554, 79373, 93422, 98638, 98641 Malformation syndrome 98655 Lens shape anomaly 183557, 183607, 98553, 98639 Category 63 Alport syndrome 544590, 716427, 90642, 98646, 98655 Disease 88917 X-linked Alport syndrome 63 Clinical subtype 88918 Autosomal dominant Alport syndrome 63 Clinical subtype 88919 Autosomal recessive Alport syndrome 63 Clinical subtype 1018 X-linked Alport syndrome-diffuse leiomyomatosis 263756, 63 Clinical subtype 653722 Digenic Alport syndrome 63 Clinical subtype 98943 Coloboma of eye lens 183557, 183607, 98553, 98639 Morphological anomaly 53691 Congenital cornea plana 183557, 519282, 522556, 98553, 98621 Morphological anomaly 98635 Corneodysgenesis 183557, 519282, 522556, 98553 Category 91489 Isolated congenital megalocornea 98635 Morphological anomaly 91490 Isolated congenital sclerocornea 98635 Morphological anomaly 98942 Coloboma of choroid and retina 183557, 716296, 717311, 98553 Morphological anomaly 1471 Coloboma of macula-brachydactyly type B syndrome 183557, 716422, 98553 Malformation syndrome 91494 Macular coloboma-cleft palate-hallux valgus syndrome 139039, 183557, 716427, 98553 Malformation syndrome 98945 Coloboma of macula 183557, 716419, 717330, 98553 Morphological anomaly 156005 Primary early-onset glaucoma 183557, 359, 523000, 98553 Clinical group 98976 Congenital glaucoma 156005 Disease 98977 Juvenile glaucoma 156005 Disease 98631 Congenital malformation of the eye with glaucoma as a major feature 519331, 98553 Category 190 Coats disease 183503, 522520, 525677, 71281, 716459, 717348, 98631, 98683 Disease 64734 Iridocorneal endothelial syndrome 525677, 98631 Disease 98979 Chandler syndrome 64734 Clinical subtype 98980 Cogan-Reese syndrome 64734 Clinical subtype 98981 Essential iris atrophy 64734 Clinical subtype 94058 Neovascular glaucoma 98631 Particular clinical situation in a disease or syndrome 238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea 525677, 98631 Malformation syndrome 792 X-linked retinoschisis 522548, 525677, 716367, 716432, 717336, 98631, 98641 Malformation syndrome 98973 Posterior polymorphous corneal dystrophy 525677, 98627, 98631 Disease 637064 Isolated optic nerve aplasia 183557, 519351, 522512, 98553 Morphological anomaly 716213 Rare isolated developmental choroidal disorder 519309, 98553 Category 209956 Idiopathic uveal effusion syndrome 280898, 716213 Disease 674958 Stellate multiform amelanotic choroidopathy 716213 Disease 674943 Isolated angioid streaks 716213 Disease 714138 Circumscribed choroidal hemangioma 673470, 716201, 98553 Disease 637061 Isolated optic nerve hypoplasia 183557, 519351, 522512, 98553 Morphological anomaly 139009 Developmental anomaly of metabolic origin 183530, 93890 Category 585 Multiple sulfatase deficiency 139009, 281241, 371442, 68385, 79225, 93448, 98644 Disease 436 Hypophosphatasia 139009, 93447 Disease 247623 Perinatal lethal hypophosphatasia 436 Clinical subtype 247676 Adult hypophosphatasia 436, 98027 Clinical subtype 247685 Odontohypophosphatasia 436, 98027 Clinical subtype 912 Zellweger syndrome 102283, 139009, 225686, 506213, 611327, 79189, 93593, 98650 Disease 772 Infantile Refsum disease 139009, 225686, 79189, 98096 Disease 79195 Sterol biosynthesis disorder 139009, 79226 Category 139 CHILD syndrome 102285, 139027, 281210, 294057, 330206, 622914, 79195, 93442 Disease 35173 X-linked dominant chondrodysplasia punctata 176, 281210, 79195, 98648 Disease 46059 Lathosterolosis 102283, 611327, 79195, 98644 Disease 309025 Mevalonate kinase deficiency 290842, 324924, 622720, 79195 Disease 29 Mevalonic aciduria 309025, 611314, 98644 Clinical subtype 343 Hyperimmunoglobulinemia D with periodic fever 290839, 309025 Clinical subtype 488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome 183426, 522548, 79195, 79359, 98641 Malformation syndrome 1426 Greenberg dysplasia 79195, 93442 Disease 35107 Desmosterolosis 102283, 611327, 79195, 93443 Disease 401973 MEND syndrome 102283, 611327, 79195 Malformation syndrome 79212 Mucolipidosis 139009, 309279 Category 576 Mucolipidosis type II 102283, 611327, 79212, 93448 Disease 577 Mucolipidosis type III 79212, 93448 Disease 423461 Mucolipidosis type III alpha/beta 577 Clinical subtype 423470 Mucolipidosis type III gamma 577 Clinical subtype 578 Mucolipidosis type IV 225681, 522520, 611314, 716405, 79212, 98683 Disease 87876 Sialidosis type 2 102283, 139009, 309294, 611327, 93448, 93593 Disease 93399 Juvenile sialidosis type 2 87876 Clinical subtype 93400 Congenital sialidosis type 2 87876 Clinical subtype 97593 Pseudohypoparathyroidism 139009, 181405, 183592, 208593, 93603 Category 457062 Pseudohypoparathyroidism without Albright hereditary osteodystrophy 97593 Clinical group 94089 Pseudohypoparathyroidism type 1B 457062, 641343 Disease 94090 Pseudohypoparathyroidism type 2 457062 Disease 457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy 240371, 477808, 79381, 93436, 97593, 98648 Clinical group 79443 Pseudohypoparathyroidism type 1A 457059, 611314, 641343 Disease 79444 Pseudohypoparathyroidism type 1C 457059, 641343 Disease 79445 Pseudopseudohypoparathyroidism 457059, 641343 Disease 369942 CADDS 101940, 139009, 68356, 68373, 68385 Disease 371235 Congenital disorder of glycosylation with developmental anomaly 139009 Category 280633 Multiple congenital anomalies-hypotonia-seizures syndrome 102283, 309515, 371071, 371235, 611327 Malformation syndrome 300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2 102283, 309515, 371071, 371235, 611327 Malformation syndrome 370930 XYLT1-CDG 102283, 309450, 371047, 371235, 611327 Disease 370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome 180772, 309347, 371071, 371235, 611314, 97120 Disease 371195 Congenital disorder of glycosylation-related bone disorder 364803, 371235 Category 2311 Autosomal recessive spondylocostal dysostosis 309505, 371195, 93454 Malformation syndrome 3144 Schneckenbecken dysplasia 309463, 371195, 93434 Malformation syndrome 321 Multiple osteochondromas 183527, 309450, 371195, 68411, 93450 Disease 75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome 102283, 309450, 371195, 536471, 611327, 93459 Clinical subtype 247262 Hyperphosphatasia-intellectual disability syndrome 102283, 309515, 371195, 498454, 611327 Disease 263463 CHST3-related skeletal dysplasia 309450, 371195, 93441 Disease 263508 COG1-CDG 102283, 309568, 371047, 371195, 611327 Disease 314667 TMEM165-CDG 309347, 371047, 371157, 371195, 93446 Disease 363417 Temtamy preaxial brachydactyly syndrome 139042, 309450, 371047, 371195, 371212, 498454, 611314 Malformation syndrome 536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome 309450, 371195, 536471, 611314, 93446 Clinical subtype 371212 Congenital disorder of glycosylation with deafness as a major feature 371235, 90642 Category 244310 RFT1-CDG 309347, 371071, 371157, 371212, 611314 Disease 139012 Rare bone development disorder 93890 Category 364526 Primary bone dysplasia 139012, 183524, 404584, 93419 Category 498445 Genetic inflammatory or rheumatoid-like osteoarthropathy 364526 Category 1159 Progressive pseudorheumatoid dysplasia 253, 498445 Disease 498474 Hyaline fibromatosis syndrome 498445, 93449 Disease 2028 Juvenile hyaline fibromatosis 139042, 183580, 477808, 498474, 71209, 79381 Clinical subtype 2176 Infantile systemic hyalinosis 139027, 498474 Clinical subtype 1451 CINCA syndrome 208650, 280926, 498445, 611314 Disease 210115 Sterile multifocal osteomyelitis with periostitis and pustulosis 290839, 290842, 324927, 324942, 498445, 619238, 622720 Disease 53715 Familial tumoral calcinosis 182130, 183487, 183634, 498445, 68415, 79386 Disease 306658 Familial normophosphatemic tumoral calcinosis 53715 Clinical subtype 306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome 309458, 371200, 53715 Clinical subtype 77297 Majeed syndrome 290839, 290842, 293830, 324927, 324942, 498445, 619238, 622720 Disease 498448 Overgrowth or tall stature syndrome with skeletal involvement 364526 Category 622925 X-linked severe syndromic thoracic aortic aneurysm and dissection 284993, 285014, 498448 Malformation syndrome 659387 PRC-2 complex-related overgrowth spectrum 102283, 498448, 611327, 93460 Clinical group 659396 Cohen-Gibson syndrome 659387 Malformation syndrome 3447 Weaver syndrome 659387 Malformation syndrome 659463 Imagawa-Matsumoto syndrome 659387 Malformation syndrome 744 Proteus syndrome 156237, 166466, 211277, 294057, 459537, 498448, 622914, 93460 Malformation syndrome 821 Sotos syndrome 102283, 183422, 262038, 498448, 522548, 611327, 93460, 98641 Disease 561 Marshall-Smith syndrome 102283, 498448, 611327, 93460 Malformation syndrome 140944 CLOVES syndrome 183484, 211252, 294057, 459537, 498448, 530313, 622914, 715460, 79382 Malformation syndrome 115 Congenital contractural arachnodactyly 284993, 498448, 97120 Malformation syndrome 60030 Loeys-Dietz syndrome 284993, 285014, 498448 Malformation syndrome 498488 Overgrowth syndrome with 2q37 translocation 263708, 498448 Malformation syndrome 329191 Tall stature-long halluces-multiple extra-epiphyses syndrome 498448, 93454 Disease 498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome 498448 Malformation syndrome 477831 Kosaki overgrowth syndrome 498448 Malformation syndrome 597738 Luscan-Lumish syndrome 102283, 498448, 611327, 93460 Malformation syndrome 364536 Primary bone dysplasia with micromelia 364526 Category 15 Achondroplasia 364536, 93420 Disease 429 Hypochondroplasia 364536, 93420 Disease 628 Diastrophic dysplasia 364536, 93423 Disease 1422 Chondrodysplasia-difference of sex development syndrome 325638, 364536, 519286, 522568, 98087 Malformation syndrome 85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome 364536, 79359, 79360, 93420 Disease 364541 Otopalatodigital syndrome spectrum disorder 364526, 93425 Clinical group 90652 Otopalatodigital syndrome type 2 102283, 139036, 139042, 156237, 183576, 364541, 611327, 90642 Malformation syndrome 90650 Otopalatodigital syndrome type 1 102283, 139036, 139042, 156237, 183576, 364541, 611327, 90642 Malformation syndrome 137834 Frank-Ter Haar syndrome 364541 Disease 435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome 364526, 674499 Disease 253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia 364526 Clinical group 642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type 253, 93441 Disease 664377 MGP-related spondyloepiphyseal dysplasia 139021, 183570, 253 Malformation syndrome 2114 Hip dysplasia, Beukes type 253 Disease 800 Schwartz-Jampel syndrome 206644, 206973, 207101, 253, 522548, 674499, 98641 Disease 239 Dyggve-Melchior-Clausen disease 102283, 253, 611327 Disease 2635 Metatropic dysplasia 253, 364820 Disease 828 Stickler syndrome 138041, 253, 716446, 90642, 98638 Disease 90653 Stickler syndrome type 1 828, 93421, 98648 Clinical subtype 90654 Stickler syndrome type 2 828, 93422, 98648 Clinical subtype 250984 Autosomal recessive Stickler syndrome 828, 93429 Clinical subtype 1427 Autosomal recessive otospondylomegaepiphyseal dysplasia 253, 93421, 93422 Disease 1667 Wolcott-Rallison syndrome 102283, 181381, 183625, 253, 611327 Disease 1830 Schimke immuno-osseous dysplasia 169349, 180766, 253, 567562 Disease 1865 Dyssegmental dysplasia, Silverman-Handmaker type 253, 519296, 674499 Disease 485 Kniest dysplasia 138041, 253, 93421 Disease 3101 Richieri Costa-da Silva syndrome 102283, 206973, 253, 611327 Malformation syndrome 1856 Spondyloperipheral dysplasia-short ulna syndrome 253, 93421 Disease 83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome 182070, 183500, 253, 68356 Disease 2619 Brachydactylous dwarfism, Mseleni type 253 Disease 93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis 253, 93421 Disease 93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type 253, 93423 Disease 93283 Spondyloepiphyseal dysplasia, Kimberley type 253, 674499 Disease 93284 Spondyloepiphyseal dysplasia tarda 253 Disease 93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type 253, 93421 Disease 93347 Anauxetic dysplasia 253 Disease 93349 X-linked spondyloepimetaphyseal dysplasia 253 Disease 93351 Spondyloepimetaphyseal dysplasia, Irapa type 253 Disease 93352 Spondyloepimetaphyseal dysplasia, Shohat type 253 Disease 93356 Spondyloepimetaphyseal dysplasia, Missouri type 253 Disease 93357 SPONASTRIME dysplasia 253 Disease 93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome 253 Disease 93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type 253, 93441 Disease 94068 Spondyloepiphyseal dysplasia congenita 253, 93421 Disease 99642 Spondyloepimetaphyseal dysplasia, Handigodu type 253 Disease 137678 Spondyloepiphyseal dysplasia with metatarsal shortening 253, 93421 Disease 156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type 253 Disease 156731 Dyssegmental dysplasia, Rolland-Desbuquois type 253 Disease 157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome 253, 519296, 536471 Clinical subtype 163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome 102283, 139039, 253, 611327 Disease 163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome 253 Disease 163662 Spondyloepiphyseal dysplasia, Reardon type 253 Disease 163665 Spondyloepiphyseal dysplasia tarda, Kohn type 102283, 253, 611327 Disease 163668 Spondyloepiphyseal dysplasia, MacDermot type 253, 90642 Malformation syndrome 166100 Autosomal dominant otospondylomegaepiphyseal dysplasia 102285, 138041, 139039, 253, 330206, 90642, 93422 Malformation syndrome 168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome 253 Disease 168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome 253 Disease 168454 Spondyloepimetaphyseal dysplasia, Geneviève type 253 Disease 171866 Spondyloepimetaphyseal dysplasia, aggrecan type 253, 674499 Disease 178355 Smith-McCort dysplasia 253 Disease 228387 Spondylo-megaepiphyseal-metaphyseal dysplasia 253 Disease 263482 Spondyloepimetaphyseal dysplasia, Maroteaux type 253, 364820 Disease 353298 Roifman syndrome 102283, 169349, 253, 611327 Disease 370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type 253 Disease 420794 Cono-spondylar dysplasia 102283, 139021, 183570, 253, 611327 Malformation syndrome 436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome 156643, 207018, 253, 35696, 522548, 68385, 90642, 90692, 98641 Disease 642085 EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity 253, 93441 Disease 611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome 102283, 139021, 183570, 253, 611327, 68356, 716405, 90642 Clinical syndrome 1458 CODAS syndrome 102283, 102285, 253, 330206, 522548, 611327, 98641 Malformation syndrome 457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome 102283, 139021, 183570, 253, 611327 Malformation syndrome 459051 Spondyloepiphyseal dysplasia, Stanescu type 253, 93421 Disease 254 Spondylometaphyseal dysplasia 364526 Clinical group 168555 Spondylometaphyseal dysplasia, A4 type 254 Disease 448267 Regressive spondylometaphyseal dysplasia 254 Malformation syndrome 1855 Spondyloenchondrodysplasia 254, 477647, 481671 Malformation syndrome 85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome 254, 716405 Disease 93314 Spondylometaphyseal dysplasia, Kozlowski type 254, 364820 Disease 93315 Spondylometaphyseal dysplasia, 'corner fracture' type 254, 93421 Disease 93316 Spondylometaphyseal dysplasia, Schmidt type 254, 93421 Disease 166272 Odontochondrodysplasia 180766, 183580, 254 Malformation syndrome 168544 Spondylometaphyseal dysplasia, Golden type 254 Disease 168549 Axial spondylometaphyseal dysplasia 254, 716405 Disease 168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome 254 Disease 93426 Ciliopathies with major skeletal involvement 364526, 364803 Category 1505 Short rib-polydactyly syndrome 182108, 93426 Clinical group 498497 Short rib-polydactyly syndrome type 5 1505 Malformation syndrome 474 Jeune syndrome 1505, 156162, 156165, 183592, 506213, 93603 Malformation syndrome 93268 Short rib-polydactyly syndrome, Beemer-Langer type 1505 Malformation syndrome 93269 Short rib-polydactyly syndrome, Majewski type 1505 Malformation syndrome 397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy 140874, 1505 Malformation syndrome 1803 Thoracomelic dysplasia 182108, 93426 Disease 2753 Orofaciodigital syndrome type 4 102283, 140997, 182108, 611327, 90642, 93426 Malformation syndrome 3317 Thoracolaryngopelvic dysplasia 182108, 182111, 183622, 93426 Malformation syndrome 140969 Saldino-Mainzer syndrome 156162, 506213, 716405, 93426, 93587 Disease 464366 NEK9-related lethal skeletal dysplasia 182108, 363250, 93426 Malformation syndrome 93429 Multiple epiphyseal dysplasia and pseudoachondroplasia 364526 Category 251 Multiple epiphyseal dysplasia 93429 Clinical group 93307 Multiple epiphyseal dysplasia type 4 251, 93423 Disease 93308 Multiple epiphyseal dysplasia type 1 251 Disease 93311 Multiple epiphyseal dysplasia type 5 251 Disease 166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly 251 Disease 166016 Multiple epiphyseal dysplasia, Lowry type 251 Disease 166024 Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome 251 Disease 166029 Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome 251 Disease 166032 Multiple epiphyseal dysplasia-miniepiphyses syndrome 251 Disease 647676 Multiple epiphyseal dysplasia type 7 251 Disease 1824 Lowry-Wood syndrome 93429 Disease 750 Pseudoachondroplasia 93429 Disease 93430 Multiple metaphyseal dysplasia 364526 Clinical group 1040 Metaphyseal anadysplasia 93430 Disease 174 Metaphyseal chondrodysplasia, Schmid type 93430 Disease 1837 Metaphyseal chondrodysplasia, Rosenberg type 93430 Disease 2501 Metaphyseal chondrodysplasia, Spahr type 93430 Disease 2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome 102283, 611327, 90642, 93430 Malformation syndrome 2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome 93430 Malformation syndrome 175 Cartilage-hair hypoplasia 169349, 519296, 522520, 79373, 93430, 98683 Disease 811 Shwachman-Diamond syndrome 101937, 102283, 165661, 183422, 331184, 611327, 68383, 93430 Disease 33067 Metaphyseal chondrodysplasia, Jansen type 93430 Disease 166038 Metaphyseal chondrodysplasia, Kaitila type 93430 Disease 79106 Eiken syndrome 93430, 93447 Malformation syndrome 93434 Spondylodysplastic dysplasia 364526 Clinical group 2746 Opsismodysplasia 93434 Disease 932 Achondrogenesis 93434 Disease 93296 Achondrogenesis type 2 932, 93421 Clinical subtype 93297 Hypochondrogenesis 932, 93421 Clinical subtype 93298 Achondrogenesis type 1B 932, 93423 Clinical subtype 93299 Achondrogenesis type 1A 932 Clinical subtype 1293 Brachyolmia 93434 Clinical group 448242 Autosomal recessive brachyolmia 1293 Malformation syndrome 2899 Brachyolmia-amelogenesis imperfecta syndrome 1293, 139042, 183580 Malformation syndrome 93302 Brachyolmia, Maroteaux type 1293 Malformation syndrome 93304 Autosomal dominant brachyolmia 1293, 364820 Malformation syndrome 3180 Spondylocamptodactyly syndrome 93434 Malformation syndrome 3275 Spondylocarpotarsal synostosis 93425, 93434 Malformation syndrome 66637 Diaphanospondylodysostosis 93434, 93454 Malformation syndrome 85166 Platyspondylic dysplasia, Torrance type 93421, 93434 Malformation syndrome 93317 Spondylometaphyseal dysplasia, Sedaghatian type 93434 Malformation syndrome 401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type 93434 Malformation syndrome 508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome 102283, 169349, 611327, 93434 Disease 622934 SBDS-related severe neonatal spondylometaphyseal dysplasia 93434 Malformation syndrome 93436 Acromelic dysplasia 364526 Clinical group 464288 Short stature-brachydactyly-obesity-global developmental delay syndrome 102283, 240371, 611327, 93436 Malformation syndrome 623695 MIR140-related spondyloepiphyseal dysplasia 93436 Malformation syndrome 950 Acrodysostosis 102283, 155899, 611327, 93436 Malformation syndrome 969 Acromicric dysplasia 93436 Malformation syndrome 2623 Geleophysic dysplasia 93436 Malformation syndrome 3041 Intellectual disability-balding-patella luxation-acromicria syndrome 102283, 611327, 93436 Malformation syndrome 63442 Angel-shaped phalango-epiphyseal dysplasia 93436 Malformation syndrome 63446 Acrocapitofemoral dysplasia 93436 Malformation syndrome 85168 Craniofacial conodysplasia 93436 Malformation syndrome 88630 Terminal osseous dysplasia-pigmentary defects syndrome 183466, 79375, 93425, 93436 Malformation syndrome 324764 Trichorhinophalangeal syndrome 79373, 93436 Clinical group 502 Trichorhinophalangeal syndrome type 2 102283, 262065, 324764, 611327 Malformation syndrome 77258 Trichorhinophalangeal syndrome type 1 324764 Malformation syndrome 2588 Myhre syndrome 102283, 611327, 93436 Malformation syndrome 93437 Acromesomelic dysplasia 364526 Clinical group 968 Acromesomelic dysplasia, Hunter-Thompson type 93437 Malformation syndrome 40 Acromesomelic dysplasia, Maroteaux type 93437 Malformation syndrome 2098 Acromesomelic dysplasia, Grebe type 93437 Malformation syndrome 2496 Mesomelia-synostoses syndrome 262065, 93437 Malformation syndrome 2639 Fibular aplasia-complex brachydactyly syndrome 294955, 404574, 93437 Malformation syndrome 93382 Brachydactyly type A6 498451, 93437 Malformation syndrome 93438 Mesomelic and rhizo-mesomelic dysplasia 364526 Clinical group 240 Léri-Weill dyschondrosteosis 93438 Malformation syndrome 1453 Cleidorhizomelic syndrome 93438 Malformation syndrome 1836 Mesomelic dysplasia, Kantaputra type 93438 Malformation syndrome 2021 Fibrochondrogenesis 93422, 93438 Disease 2497 Upper limb mesomelic dysplasia, type Fryns 93438 Malformation syndrome 2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome 102285, 139039, 330206, 93438 Malformation syndrome 2632 Langer mesomelic dysplasia 93438 Malformation syndrome 2633 Mesomelic dysplasia, Nievergelt type 93438 Malformation syndrome 2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type 93438 Malformation syndrome 2733 Omodysplasia 93438 Malformation syndrome 93328 Autosomal dominant omodysplasia 2733 Clinical subtype 93329 Autosomal recessive omodysplasia 2733 Clinical subtype 3098 Rhizomelic syndrome, Urbach type 93438 Malformation syndrome 2831 Rhizomelic dysplasia, Patterson-Lowry type 93438 Malformation syndrome 56304 Atelosteogenesis type II 102283, 138055, 611327, 93423, 93438 Malformation syndrome 85170 Mesomelic dysplasia, Savarirayan type 93438 Malformation syndrome 97360 Robinow syndrome 102283, 139021, 183570, 611327, 93438 Malformation syndrome 1507 Autosomal recessive Robinow syndrome 97360 Clinical subtype 3107 Autosomal dominant Robinow syndrome 97360 Clinical subtype 314795 SHOX-related short stature 93438 Disease 397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome 102285, 139021, 156243, 183570, 330206, 90642, 93438 Malformation syndrome 440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome 90642, 93422, 93438 Malformation syndrome 163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type 102283, 611327, 93438 Disease 580940 QRICH1-related intellectual disability-chondrodysplasia syndrome 102283, 139021, 183570, 611327, 93438 Malformation syndrome 632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome 102283, 611327, 93438 Malformation syndrome 93439 Campomelic dysplasia and related disorders 364526 Clinical group 656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency 331223, 93439 Disease 140 Campomelic dysplasia 102283, 325638, 611327, 93439, 98087 Malformation syndrome 1318 Campomelia, Cumming type 102283, 611327, 93439 Malformation syndrome 1801 Kyphomelic dysplasia 93439 Malformation syndrome 2768 Blount disease 93439 Malformation syndrome 3344 Weismann-Netter syndrome 93439 Malformation syndrome 3206 Stüve-Wiedemann syndrome 93439 Malformation syndrome 324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome 93439 Malformation syndrome 93440 Slender bone dysplasia 364526 Clinical group 2333 Kenny-Caffey syndrome 139021, 181402, 183570, 93440 Malformation syndrome 93324 Autosomal recessive Kenny-Caffey syndrome 2333 Etiological subtype 93325 Autosomal dominant Kenny-Caffey syndrome 2333 Etiological subtype 2616 3M syndrome 102285, 139021, 183570, 330206, 93440 Malformation syndrome 85173 IMAGe syndrome 156643, 165707, 595337, 90692, 93440 Malformation syndrome 314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome 363250, 93440 Disease 1506 Thin ribs-tubular bones-dysmorphism syndrome 93440 Malformation syndrome 2108 Hallermann-Streiff syndrome 102283, 139021, 183570, 611327, 79373, 79389, 93440, 98650 Malformation syndrome 50811 Lipodystrophy-intellectual disability-deafness syndrome 102283, 139033, 363245, 611327, 90642, 93440, 93447, 98305 Disease 2109 Hallermann-Streiff-like syndrome 102283, 139021, 183570, 611327, 79373, 79389, 93440, 98650 Malformation syndrome 93441 Primary bone dysplasia with multiple joint dislocations 364526 Clinical group 2370 Larsen-like osseous dysplasia-short stature syndrome 93441 Malformation syndrome 1190 Atelosteogenesis type I 138055, 93425, 93441 Malformation syndrome 114 Auriculoosteodysplasia 93441 Malformation syndrome 1263 Boomerang dysplasia 93425, 93441 Disease 1425 Desbuquois syndrome 139030, 93441, 98638 Malformation syndrome 1508 Coxoauricular syndrome 93441 Malformation syndrome 2371 Lethal Larsen-like syndrome 139030, 93441 Malformation syndrome 503 Larsen syndrome 139030, 139039, 93425, 93441 Malformation syndrome 56305 Atelosteogenesis type III 102283, 138055, 611327, 93425, 93441 Malformation syndrome 85174 Pseudodiastrophic dysplasia 139030, 93441 Malformation syndrome 280586 Chondrodysplasia with joint dislocations, gPAPP type 93441 Malformation syndrome 438117 Steel syndrome 93441 Disease 527450 Severe myopia-generalized joint laxity-short stature syndrome 139030, 93441 Malformation syndrome 589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome 102283, 139021, 183570, 611327, 716405, 90642, 93441 Malformation syndrome 93442 Chondrodysplasia punctata 364526 Clinical group 177 Rhizomelic chondrodysplasia punctata 225686, 3276, 611314, 68385, 93442, 98648 Disease 309803 Rhizomelic chondrodysplasia punctata type 3 177 Etiological subtype 309789 Rhizomelic chondrodysplasia punctata type 1 177 Etiological subtype 309796 Rhizomelic chondrodysplasia punctata type 2 177 Etiological subtype 468717 Rhizomelic chondrodysplasia punctata type 5 177 Etiological subtype 176 Non-rhizomelic chondrodysplasia punctata 93442 Clinical group 79345 Brachytelephalangic chondrodysplasia punctata 176, 91088 Malformation syndrome 79346 Chondrodysplasia punctata, tibial-metacarpal type 176 Malformation syndrome 79347 Chondrodysplasia punctata, Toriello type 176 Malformation syndrome 85175 Astley-Kendall dysplasia 93442 Malformation syndrome 85202 Keutel syndrome 102283, 611327, 93442 Malformation syndrome 93444 Primary bone dysplasia with increased bone density 364526 Category 2801 Juvenile Paget disease 93444 Malformation syndrome 1328 Camurati-Engelmann disease 93444 Malformation syndrome 1798 Craniofacial dysostosis-diaphyseal hyperplasia syndrome 93444 Malformation syndrome 1802 Ghosal hematodiaphyseal dysplasia 93444 Malformation syndrome 2658 Lenz-Majewski hyperostotic dysplasia 102283, 611327, 93444 Malformation syndrome 2710 Oculodentodigital dysplasia 102283, 139042, 183580, 522548, 568047, 611327, 79373, 93444, 98641 Malformation syndrome 2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome 183466, 79375, 93444 Malformation syndrome 2790 Endosteal hyperostosis, Worth type 93444 Malformation syndrome 3005 Pyle disease 93444 Disease 3152 Sclerosteosis 93444 Malformation syndrome 3352 Tricho-dento-osseous syndrome 139042, 183580, 79367, 79373, 93444 Malformation syndrome 3416 Hyperostosis corticalis generalisata 93444 Malformation syndrome 646139 Dysplastic cortical hyperostosis 93444 Malformation syndrome 2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type 646139 Clinical subtype 646136 Dysplastic cortical hyperostosis, Al-Gazali type 646139 Clinical subtype 2781 Osteopetrosis and related disorders 506219, 93444 Clinical group 94063 12q14 microdeletion syndrome 102283, 261821, 2781, 611327 Malformation syndrome 166119 Isolated osteopoikilosis 2781 Disease 178389 Osteopetrosis-hypogammaglobulinemia syndrome 101977, 2781 Disease 210110 Intermediate osteopetrosis 2781 Malformation syndrome 53 Albers-Schönberg osteopetrosis 2781, 519337 Malformation syndrome 2785 Osteopetrosis with renal tubular acidosis 2781, 314822, 611314 Disease 1782 Dysosteosclerosis 2781 Malformation syndrome 1879 Melorheostosis with osteopoikilosis 2781 Malformation syndrome 2485 Melorheostosis 2781 Malformation syndrome 2777 Osteomesopyknosis 2781 Malformation syndrome 667 Autosomal recessive malignant osteopetrosis 2781, 519337 Malformation syndrome 2783 Autosomal dominant osteopetrosis type 1 2781 Malformation syndrome 69088 Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome 2781, 331217, 568047, 79373 Disease 85179 Infantile osteopetrosis with neuroaxonal dysplasia 2781 Malformation syndrome 99844 Leukocyte adhesion deficiency type III 2781, 2968 Clinical subtype 500548 Osteosclerotic metaphyseal dysplasia 2781 Malformation syndrome 556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia 182070, 183500, 2781, 68356 Disease 75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome 281244, 399853, 400022, 485382, 93444, 95710 Disease 85182 Diaphyseal medullary stenosis-bone malignancy syndrome 183527, 68411, 93444 Disease 85184 Craniometadiaphyseal dysplasia, wormian bone type 93444 Malformation syndrome 85188 Metaphyseal dysplasia, Braun-Tinschert type 93444 Malformation syndrome 93443 Neonatal osteosclerotic dysplasia 93444 Clinical group 1310 Caffey disease 93443 Malformation syndrome 1832 Osteosclerotic bone dysplasia 93443 Malformation syndrome 50945 Blomstrand lethal chondrodysplasia 522548, 93443, 98641 Malformation syndrome 248095 Primary hypertrophic osteoarthropathy 93444 Clinical group 1525 Cranio-osteoarthropathy 248095 Malformation syndrome 2796 Pachydermoperiostosis 248095, 477808, 79381 Malformation syndrome 314029 High bone mass osteogenesis imperfecta 93444 Disease 324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations 93444 Disease 391327 X-linked calvarial hyperostosis 93444 Disease 443098 Hyperostosis cranialis interna 90642, 93444 Disease 93446 Primary bone dysplasia with decreased bone density 364526 Category 2771 Bruck syndrome 167762, 93446 Malformation syndrome 2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome 519296, 522548, 93446, 98641 Malformation syndrome 2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome 102283, 611327, 93446 Malformation syndrome 666 Osteogenesis imperfecta 93446 Disease 216796 Osteogenesis imperfecta type 1 519296, 666 Clinical subtype 216804 Osteogenesis imperfecta type 2 519296, 666 Clinical subtype 216812 Osteogenesis imperfecta type 3 167762, 519296, 666 Clinical subtype 216820 Osteogenesis imperfecta type 4 167762, 519296, 666 Clinical subtype 216828 Osteogenesis imperfecta type 5 666 Clinical subtype 2097 Grant syndrome 519296, 93446 Malformation syndrome 2324 Osteopenia-intellectual disability-sparse hair syndrome 102283, 611327, 93446 Malformation syndrome 2786 Osteoporosis-oculocutaneous hypopigmentation syndrome 93446 Malformation syndrome 2788 Osteoporosis-pseudoglioma syndrome 102283, 519286, 522548, 522568, 611327, 716459, 717348, 93446, 98641 Disease 457378 Complex lethal osteochondrodysplasia 363250, 93446 Malformation syndrome 53697 Gnathodiaphyseal dysplasia 93446, 93450 Malformation syndrome 85191 Singleton-Merten dysplasia 477647, 481671, 93446 Malformation syndrome 85192 Calvarial doughnut lesions-bone fragility syndrome 93446 Malformation syndrome 85193 Idiopathic juvenile osteoporosis 182231, 486955, 93446 Malformation syndrome 166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia 180766, 183580, 93446 Malformation syndrome 230857 Ehlers-Danlos/osteogenesis imperfecta syndrome 139027, 139030, 182222, 228215, 619249, 93446 Disease 319195 Chondroectodermal dysplasia with night blindness 79373, 93446 Disease 391330 X-linked osteoporosis with fractures 93446 Disease 498481 LRP5-related primary osteoporosis 93446 Malformation syndrome 536532 Classical-like Ehlers-Danlos syndrome type 2 93446, 98249 Disease 93447 Primary bone dysplasia with defective bone mineralization 364526 Category 557003 Oculoskeletodental syndrome 102283, 363250, 522548, 611327, 77830, 90642, 93447, 98027, 98641 Disease 417 Neonatal severe primary hyperparathyroidism 181408, 208596, 93447 Disease 405 Familial hypocalciuric hypercalcemia 183634, 264719, 68415, 93447 Disease 93372 Familial hypocalciuric hypercalcemia type 1 405 Etiological subtype 101049 Familial hypocalciuric hypercalcemia type 2 405 Etiological subtype 101050 Familial hypocalciuric hypercalcemia type 3 405 Etiological subtype 73230 Ossification anomalies-psychomotor developmental delay syndrome 102283, 182108, 611327, 93447 Disease 289098 Disorders of vitamin D metabolism 183634, 68415, 93447 Category 437 Hypophosphatemic rickets 183592, 289098, 93603 Clinical group 1652 Dent disease 437, 506213 Disease 93622 Dent disease type 1 1652 Clinical subtype 93623 Dent disease type 2 1652 Clinical subtype 213 Cystinosis 437, 79207 Disease 411629 Infantile nephropathic cystinosis 213, 506213, 93593 Clinical subtype 411634 Juvenile nephropathic cystinosis 213, 506213, 93593 Clinical subtype 411641 Ocular cystinosis 213, 98628 Clinical subtype 244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis 437, 506213 Disease 89936 X-linked hypophosphatemia 437 Disease 89937 Autosomal dominant hypophosphatemic rickets 437 Disease 157215 Hereditary hypophosphatemic rickets with hypercalciuria 437 Disease 289176 Autosomal recessive hypophosphatemic rickets 437 Disease 289103 Hypocalcemic rickets 289098 Clinical group 93160 Hypocalcemic vitamin D-resistant rickets 289103 Disease 289157 Hypocalcemic vitamin D-dependent rickets 289103 Disease 1416 Familial calcium pyrophosphate deposition 182231, 271870, 93447 Disease 93449 Primary osteolysis 364526 Category 647667 Mandibuloacral dysplasia associated to MTX2 139033, 363245, 93449 Malformation syndrome 1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome 93449 Malformation syndrome 2457 Mandibuloacral dysplasia 102285, 139033, 330206, 363245, 522548, 93449, 98305, 98641 Malformation syndrome 90153 Mandibuloacral dysplasia with type A lipodystrophy 2457, 300763 Clinical subtype 90154 Mandibuloacral dysplasia with type B lipodystrophy 2457 Clinical subtype 2776 Autosomal recessive distal osteolysis syndrome 102283, 611327, 93449 Malformation syndrome 740 Hutchinson-Gilford progeria syndrome 139027, 139033, 300766, 363245, 79389, 93449 Disease 50809 Talo-patello-scaphoid osteolysis 93449 Malformation syndrome 85195 Familial expansile osteolysis 93449 Disease 280576 Nestor-Guillermo progeria syndrome 139033, 363245, 79389, 93449, 98305 Malformation syndrome 352636 Phalangeal microgeodic syndrome 93449 Disease 371428 Multicentric osteolysis-nodulosis-arthropathy spectrum 93449 Disease 93450 Primary bone dysplasia with disorganized development of skeletal components 364526 Category 73 Gorham-Stout disease 182231, 235832, 2415, 486955, 93450 Malformation syndrome 636 Neurofibromatosis type 1 101950, 156629, 166466, 183466, 183487, 183619, 477771, 506213, 536391, 634518, 79375, 79386, 93450 Disease 97685 17q11 microdeletion syndrome 262137, 636 Clinical subtype 363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion 636 Etiological subtype 337 Fibrodysplasia ossificans progressiva 102283, 183484, 364531, 611327, 79382, 93450 Disease 2762 Progressive osseous heteroplasia 364531, 477808, 79381, 93450 Malformation syndrome 595216 Fibrous dysplasia/McCune-Albright syndrome 93450 Clinical group 562 McCune-Albright syndrome 178040, 183422, 183466, 314749, 435564, 595216, 650187, 79375 Disease 249 Fibrous dysplasia of bone 595216 Malformation syndrome 93277 Monostotic fibrous dysplasia 249 Clinical subtype 93276 Polyostotic fibrous dysplasia 249 Clinical subtype 184 Cherubism 102285, 290839, 324936, 324953, 330206, 619238, 93450, 98027 Malformation syndrome 1822 Dysplasia epiphysealis hemimelica 93450 Malformation syndrome 1962 Exostoses-anetodermia-brachydactyly type E syndrome 93450 Malformation syndrome 2499 Metachondromatosis 93450 Malformation syndrome 2767 Carpotarsal osteochondromatosis 93450 Malformation syndrome 2867 Short stature, Brussels type 93450 Malformation syndrome 3019 Ramon syndrome 102283, 139042, 183580, 611327, 93450 Malformation syndrome 3408 Upington disease 93450 Malformation syndrome 2770 Nasu-Hakola disease 276058, 68356, 93450, 98534 Malformation syndrome 57782 Mazabraud syndrome 71209, 93450 Malformation syndrome 85197 Genochondromatosis type 1 93450 Disease 85198 Dysspondyloenchondromatosis 93450 Malformation syndrome 93398 Genochondromatosis type 2 93450 Disease 99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria 93450 Disease 488265 Osteofibrous dysplasia 93450 Disease 93465 Lethal chondrodysplasia 364526 Category 1842 Bone dysplasia, lethal Holmgren type 93465 Malformation syndrome 2347 Lethal Kniest-like dysplasia 93465 Malformation syndrome 3003 Pyknoachondrogenesis 93465 Malformation syndrome 1423 Lethal recessive chondrodysplasia 93465 Malformation syndrome 364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments 364526 Category 364559 Dysostosis 139012, 93419 Category 66630 Congenital pseudoarthrosis of the clavicle 364559, 404568 Disease 93453 Dysostosis with predominant craniofacial involvement 364559, 404568 Category 1517 Cantú syndrome 102283, 611327, 93453 Malformation syndrome 1794 Oculomaxillofacial dysostosis 139039, 93453 Malformation syndrome 250 Frontonasal dysplasia 93453 Clinical group 1519 SPECC1L-related hypertelorism syndrome 102285, 250, 330206 Malformation syndrome 1521 Craniofrontonasal dysplasia-Poland anomaly syndrome 180193, 250 Malformation syndrome 1993 Pai syndrome 139039, 250 Malformation syndrome 1827 Acromelic frontonasal dysplasia 102283, 250, 364574, 611327 Malformation syndrome 228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome 102283, 250, 481771, 522520, 611327, 79364, 98683 Malformation syndrome 306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome 139036, 139039, 183576, 250 Malformation syndrome 391474 Frontorhiny 141234, 250, 414726 Malformation syndrome 398156 Oculoauriculofrontonasal syndrome 250 Malformation syndrome 488437 SIX2-related frontonasal dysplasia 250 Malformation syndrome 157832 Craniorhiny 156246, 250 Malformation syndrome 521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome 250 Malformation syndrome 2549 Oculoauriculovertebral spectrum with radial defects 102285, 139036, 183576, 330206, 93453 Malformation syndrome 2769 Familial osteodysplasia, Anderson type 93453 Malformation syndrome 3291 Teebi-Shaltout syndrome 79373, 93453 Malformation syndrome 155896 Otomandibular dysplasia 183583, 68329, 93453, 96333 Category 137888 Auriculocondylar syndrome 139036, 155896, 183576 Malformation syndrome 141132 Oculo-auriculo-vertebral spectrum 102285, 139036, 155896, 183576, 330206, 519329 Malformation syndrome 155899 Mandibulofacial dysostosis 155896 Clinical group 443995 Mandibulofacial dysostosis with alopecia 155899, 481771, 79364, 90642 Malformation syndrome 156202 Otomandibular dysplasia associated with monogenic syndromes 155896 Category 1296 Lambert syndrome 102283, 139036, 156202, 183576, 611327 Malformation syndrome 140997 Orofaciodigital syndrome 139036, 156215, 156237, 183576, 294959, 93453 Clinical group 2751 Orofaciodigital syndrome type 2 102283, 140997, 611327, 90642 Malformation syndrome 2755 Orofaciodigital syndrome type 8 140997 Malformation syndrome 2919 Orofaciodigital syndrome type 5 102283, 140997, 611327 Malformation syndrome 141000 Orofaciodigital syndrome type 11 140997 Malformation syndrome 141007 Orofaciodigital syndrome type 9 140997, 716405 Malformation syndrome 508501 Orofaciodigital syndrome type 18 140997, 363250 Malformation syndrome 459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome 102283, 139021, 183570, 611327, 93453 Malformation syndrome 314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome 102283, 139042, 420755, 519329, 522578, 611327, 93453 Malformation syndrome 3262 Dobrow syndrome 93453 Malformation syndrome 93454 Dysostosis with predominant vertebral and costal involvement 364559, 404568 Category 1393 Cerebrocostomandibular syndrome 102283, 611327, 93454 Malformation syndrome 1394 Cerebrofaciothoracic dysplasia 102283, 611327, 93454 Malformation syndrome 2206 Ankylosing vertebral hyperostosis with tylosis 93454 Malformation syndrome 2482 Melhem-Fahl syndrome 93454 Malformation syndrome 2759 Imperforate oropharynx-costovertebral anomalies syndrome 93454 Malformation syndrome 2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome 93454, 97120 Malformation syndrome 1797 Autosomal dominant spondylocostal dysostosis 93454 Malformation syndrome 3456 Wildervanck syndrome 139036, 183576, 93454 Malformation syndrome 2062 Progressive non-infectious anterior vertebral fusion 102285, 330206, 93454 Malformation syndrome 85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome 93420, 93454 Disease 447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome 93454, 97245 Malformation syndrome 505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders 101944, 102283, 156610, 611327, 93454 Malformation syndrome 93455 Patellar dysostosis 364559, 404568 Category 2614 Nail-patella syndrome 567562, 79370, 93455, 98638 Malformation syndrome 1509 Coxopodopatellar syndrome 93455 Disease 86789 Isolated patella aplasia/hypoplasia 109011, 93455 Morphological anomaly 293150 Familial clubfoot due to PITX1 point mutation 199315, 93455 Etiological subtype 597749 KAT6B-related multiple congenital anomalies syndrome 102283, 165707, 611327, 93455 Clinical group 85201 Genitopatellar syndrome 597749 Malformation syndrome 597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome 177107, 597749 Malformation syndrome 364568 Dysostosis with limb anomaly as a major feature 364559 Category 488434 Camptodactyly syndrome, Guadalajara type 3 102283, 364568, 404571, 611327 Malformation syndrome 3292 Tel Hashomer camptodactyly syndrome 206634, 364568 Malformation syndrome 498477 Ectrodactyly with and without other manifestations 364568, 404571 Category 1897 EEM syndrome 498477, 716427, 79373 Malformation syndrome 69085 Limb-mammary syndrome 180173, 498477, 98609 Malformation syndrome 1118 Fibular aplasia-ectrodactyly syndrome 294957, 498477 Malformation syndrome 1892 Ectrodactyly-polydactyly syndrome 294959, 498477 Malformation syndrome 1406 Charlie M syndrome 102285, 139036, 183576, 2749, 330206, 498477 Malformation syndrome 1986 Gollop-Wolfgang complex 294955, 294957, 294959, 404574, 498477 Malformation syndrome 978 ADULT syndrome 139042, 183580, 294955, 404574, 498477, 98609 Malformation syndrome 2440 Isolated split hand-split foot malformation 498477 Malformation syndrome 3329 Tibial aplasia-ectrodactyly syndrome 139039, 294955, 294957, 404574, 498477 Malformation syndrome 2439 Patterson-Stevenson-Fontaine syndrome 139036, 183576, 364574, 498477 Malformation syndrome 69028 Dysostosis with brachydactyly 109009, 364568, 404571, 404577 Category 498451 Dysostosis with brachydactyly without extraskeletal manifestations 69028 Category 1570 Symbrachydactyly of hands and feet 498451 Malformation syndrome 633211 Preaxial digit brachydactyly-webbed fingers 498451 Malformation syndrome 93396 Brachydactyly type A2 498451 Malformation syndrome 93394 Brachydactyly type A4 498451 Malformation syndrome 93397 Brachydactyly type A7 498451 Malformation syndrome 498602 Sugarman brachydactyly 498451 Morphological anomaly 2565 Mononen-Karnes-Senac syndrome 498451 Malformation syndrome 85169 Familial digital arthropathy-brachydactyly 364820, 498451 Malformation syndrome 1275 Brachydactyly-elbow wrist dysplasia syndrome 498451, 93459 Malformation syndrome 93388 Brachydactyly type A1 498451 Malformation syndrome 93383 Brachydactyly type B 498451 Malformation syndrome 140908 Brachydactyly type B2 93383 Clinical subtype 572385 Brachydactyly type B1 93383 Clinical subtype 93384 Brachydactyly type C 498451 Malformation syndrome 93387 Brachydactyly type E 498451 Malformation syndrome 1487 Cooks syndrome 498451, 79370 Malformation syndrome 1319 Camptobrachydactyly 498451 Malformation syndrome 498454 Dysostosis with brachydactyly with extraskeletal manifestations 69028 Category 589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies 139042, 498454, 79373, 79376 Disease 166035 Brachydactyly-short stature-retinitis pigmentosa syndrome 102283, 498454, 611327, 716405 Malformation syndrome 238744 Mammary-digital-nail syndrome 180170, 183731, 294955, 404574, 498454 Malformation syndrome 1001 2q37 microdeletion syndrome 102283, 262010, 498454, 611327 Malformation syndrome 1276 Brachydactyly-arterial hypertension syndrome 156629, 498454, 506213 Malformation syndrome 1078 Thumb stiffness-brachydactyly-intellectual disability syndrome 102283, 498454, 611327 Malformation syndrome 1278 Brachydactyly-preaxial hallux varus syndrome 498454 Malformation syndrome 2956 Acrodysplasia scoliosis 498454 Malformation syndrome 1292 Brachymorphism-onychodysplasia-dysphalangism syndrome 102283, 139021, 183570, 498454, 611327 Malformation syndrome 1858 Skeletal dysplasia-epilepsy-short stature syndrome 102283, 498454, 611327 Malformation syndrome 52056 Ulnar/fibula ray defect-brachydactyly syndrome 498454 Malformation syndrome 2438 Hand-foot-genital syndrome 102285, 180148, 330206, 498454 Malformation syndrome 1295 Brachytelephalangy-dysmorphism-Kallmann syndrome 102285, 181387, 330206, 498454 Malformation syndrome 2911 Poland syndrome 180193, 498454 Malformation syndrome 93457 Non-syndromic limb reduction defect 109011, 364568, 404571 Category 498457 Non-syndromic longitudinal limb defect 93457 Category 2130 Non-syndromic hemimelia 498457 Clinical group 93320 Isolated ulnar hemimelia 2130 Morphological anomaly 93321 Isolated radial hemimelia 2130 Morphological anomaly 93322 Isolated tibial hemimelia 2130 Morphological anomaly 93323 Isolated fibular hemimelia 2130 Morphological anomaly 294988 Isolated hypoplasia of thumb 498457 Morphological anomaly 498461 Non-syndromic terminal transverse limb defect 93457 Category 294925 Non-syndromic amelia 498461 Clinical group 294967 Isolated amelia of upper limb 294925 Morphological anomaly 294969 Isolated amelia of lower limb 294925 Morphological anomaly 294971 Isolated tetra-amelia 294925 Morphological anomaly 973 Isolated absence/hypoplasia of fingers excluding thumb, unilateral 498461 Morphological anomaly 498491 Non-syndromic complete hemimelia 498461 Category 294981 Isolated absence of both lower leg and foot 498491 Morphological anomaly 294979 Isolated absence of both forearm and hand 498491 Morphological anomaly 294983 Isolated acheiria 498461 Morphological anomaly 294986 Isolated apodia 498461 Morphological anomaly 931 Isolated acheiropodia 498461 Morphological anomaly 294927 Non-syndromic intercalary limb defects 93457 Clinical group 294973 Isolated humeral agenesis/hypoplasia 294927 Morphological anomaly 294975 Isolated absence of upper arm and forearm with hand present 294927 Morphological anomaly 294977 Isolated absence of thigh and lower leg with foot present 294927 Morphological anomaly 1987 Isolated femoral agenesis/hypoplasia 294927 Morphological anomaly 633228 Isolated proximal femoral focal deficiency 294927 Morphological anomaly 667589 Isolated congenital femoral bifurcation 294927 Morphological anomaly 93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy 109011, 364568, 404571 Category 2913 Non-syndromic polydactyly 93458 Category 498464 Non-syndromic preaxial polydactyly 2913 Category 93336 Polydactyly of a triphalangeal thumb 498464 Morphological anomaly 93337 Polydactyly of an index finger 498464 Morphological anomaly 93338 Polysyndactyly 498464 Morphological anomaly 93339 Polydactyly of a biphalangeal thumb and/or hallux 498464 Morphological anomaly 498467 Non-syndromic postaxial polydactyly 2913 Category 93334 Postaxial polydactyly type A 498467 Morphological anomaly 93335 Postaxial polydactyly type B 498467 Morphological anomaly 498470 Non-syndromic complex polydactyly 2913 Category 295004 Central polydactyly 498470 Morphological anomaly 498494 Mirror-image polydactyly 498470 Morphological anomaly 90025 Non-syndromic syndactyly 93458 Category 2498 Syndactyly type 8 90025 Morphological anomaly 93402 Syndactyly type 1 90025 Morphological anomaly 295187 Zygodactyly type 1 93402 Clinical subtype 295189 Zygodactyly type 2 93402 Clinical subtype 295191 Zygodactyly type 3 93402 Clinical subtype 295193 Zygodactyly type 4 93402 Clinical subtype 93403 Syndactyly type 2 90025 Morphological anomaly 295195 Synpolydactyly type 1 93403 Clinical subtype 295197 Synpolydactyly type 2 93403 Clinical subtype 295199 Synpolydactyly type 3 93403 Clinical subtype 93404 Syndactyly type 3 90025 Morphological anomaly 93405 Syndactyly type 4 90025 Morphological anomaly 93406 Syndactyly type 5 90025 Morphological anomaly 157801 Mesoaxial synostotic syndactyly with phalangeal reduction 90025 Morphological anomaly 295012 Syndactyly type 6 90025 Morphological anomaly 295002 Isolated hyperphalangy 93458 Morphological anomaly 93459 Syndrome with synostosis or other joint formation defect 109009, 364568, 404571, 404577 Category 1228 Banki syndrome 93459 Malformation syndrome 1412 Tarsal-carpal coalition syndrome 93459 Malformation syndrome 2760 OSLAM syndrome 183527, 68411, 93459 Malformation syndrome 2900 Leri pleonosteosis 93459 Malformation syndrome 3237 Multiple synostoses syndrome 90642, 93459 Malformation syndrome 3246 Symphalangism with multiple anomalies of hands and feet 294959, 93459 Malformation syndrome 3250 Proximal symphalangism 93459 Malformation syndrome 3268 Radioulnar synostosis-microcephaly-scoliosis syndrome 93459 Malformation syndrome 71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome 477794, 93459 Malformation syndrome 3466 WT limb-blood syndrome 68383, 93459 Disease 157808 Isolated pseudoarthrosis of the limbs 109011, 364568, 404571 Morphological anomaly 295018 Congenital pseudoarthrosis of the tibia 157808 Clinical subtype 295020 Congenital pseudoarthrosis of the femur 157808 Clinical subtype 295022 Congenital pseudoarthrosis of the fibula 157808 Clinical subtype 295024 Congenital pseudoarthrosis of the radius 157808 Clinical subtype 295026 Congenital pseudoarthrosis of the ulna 157808 Clinical subtype 199315 Familial clubfoot with or without associated lower limb anomalies 109009, 364568, 404571, 404577 Malformation syndrome 238578 Familial clubfoot due to 17q23.1q23.2 microduplication 199315, 262968 Etiological subtype 293144 Familial clubfoot due to 5q31 microdeletion 199315 Etiological subtype 228184 Heart-hand syndrome 109009, 364568, 404571, 404577 Category 294949 Non-syndromic joint formation defects 109011, 364568, 404571 Category 3248 Isolated distal symphalangism 294949 Morphological anomaly 3265 Isolated humero-radial synostosis 294949 Morphological anomaly 3266 Isolated humero-radio-ulnar synostosis 294949 Morphological anomaly 3269 Isolated radio-ulnar synostosis 294949 Morphological anomaly 94056 Isolated humero-ulnar synostosis 294949 Morphological anomaly 295028 Isolated tibio-fibular synostosis 294949 Morphological anomaly 294955 Syndrome with limb reduction defects 109009, 364568 Category 488232 Split-foot malformation-mesoaxial polydactyly syndrome 102285, 294955, 294959, 330206, 404574, 79370, 90642 Malformation syndrome 3320 Thrombocytopenia-absent radius syndrome 294955, 404574, 477794 Malformation syndrome 84 Fanconi anemia 102283, 102285, 183422, 183466, 294955, 330206, 404574, 506213, 611327, 68383, 79375, 93614 Malformation syndrome 3103 Roberts syndrome 102283, 139039, 294955, 404574, 611327, 98648 Malformation syndrome 988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome 294955, 404574 Malformation syndrome 989 Hypoglossia-hypodactyly syndrome 102283, 139036, 183576, 2749, 294955, 404574, 611327 Malformation syndrome 1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome 294955, 404574 Malformation syndrome 1113 Aphalangy-syndactyly-microcephaly syndrome 294955, 294959, 404574 Malformation syndrome 1972 Lethal faciocardiomelic dysplasia 294955, 404574, 459787, 471383 Malformation syndrome 1988 Femoral-facial syndrome 102285, 139039, 294955, 330206, 404574 Malformation syndrome 2249 Ulna hypoplasia-intellectual disability syndrome 102283, 294955, 404574, 611327 Malformation syndrome 2307 IVIC syndrome 294955, 404574, 522520, 98683 Malformation syndrome 2310 Absence deformity of leg-cataract syndrome 294955, 404574, 522548, 98641 Malformation syndrome 2329 Karsch-Neugebauer syndrome 294955, 404574 Malformation syndrome 2564 Tetramelic monodactyly 294955, 404574 Malformation syndrome 2730 Postaxial tetramelic oligodactyly 294955, 404574 Malformation syndrome 2839 Pelvis-shoulder dysplasia 294955, 404574 Malformation syndrome 2854 Fuhrmann syndrome 139039, 294955, 294959, 404574 Malformation syndrome 2879 Phocomelia, Schinzel type 294955, 404574 Malformation syndrome 3016 Absent radius-anogenital anomalies syndrome 294955, 404574 Malformation syndrome 3021 RAPADILINO syndrome 102285, 139039, 294955, 330206, 404574 Malformation syndrome 3301 Tetraamelia-multiple malformations syndrome 102285, 294955, 330206, 404574, 522548, 98641 Malformation syndrome 3312 Thalidomide embryopathy 251529, 294955 Malformation syndrome 3328 Absent tibia-polydactyly-arachnoid cyst syndrome 102285, 294955, 294959, 330206, 404574 Malformation syndrome 3383 Humerus trochlea aplasia 294955, 404574 Malformation syndrome 71271 Split hand-split foot-deafness syndrome 102285, 294955, 294959, 330206, 404574, 90642 Malformation syndrome 93333 Pelviscapular dysplasia 294955, 404574 Malformation syndrome 329319 Thrombocythemia with distal limb defects 248401, 294955, 404574 Disease 1891 Intellectual disability-spasticity-ectrodactyly syndrome 102283, 294955, 404574, 611327 Malformation syndrome 2492 FATCO syndrome 294955, 294959, 404574 Malformation syndrome 508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome 102283, 169349, 294955, 404574, 611327, 86836 Disease 221139 Combined immunodeficiency with facio-oculo-skeletal anomalies 102283, 169349, 294955, 404574, 506219, 611327 Disease 1326 Camptodactyly syndrome, Guadalajara type 2 102285, 294955, 330206, 404574 Malformation syndrome 294957 Dysostosis with combined reduction defects of upper and lower limbs 109009, 364568, 404571, 404577 Category 1121 Radial deficiency-tibial hypoplasia syndrome 294957 Malformation syndrome 1122 Ulnar hypoplasia-split foot syndrome 294957 Malformation syndrome 2019 Femur-fibula-ulna complex 294957 Malformation syndrome 294959 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy 109009, 364568, 404571, 404577 Category 658805 Greig cephalopolysyndactyly-contiguous gene syndrome 102285, 261911, 294959, 330206, 363250 Malformation syndrome 567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome 102285, 165707, 229720, 294959, 330206 Disease 85203 Acropectoral syndrome 294959 Malformation syndrome 93409 Brachydactyly-syndactyly, Zhao type 294959 Malformation syndrome 357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome 294959 Malformation syndrome 369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome 294959 Malformation syndrome 420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome 294959, 95495 Malformation syndrome 957 Acropectorovertebral dysplasia 182108, 294959 Malformation syndrome 1003 Scalp defects-postaxial polydactyly syndrome 183481, 294959, 79380 Malformation syndrome 1388 Catel-Manzke syndrome 102283, 139039, 294959, 611327 Malformation syndrome 1757 Fibular dimelia-diplopodia syndrome 294959 Malformation syndrome 380 Greig cephalopolysyndactyly syndrome 102285, 294959, 330206, 363250 Malformation syndrome 2110 Hallux varus-preaxial polysyndactyly syndrome 294959 Malformation syndrome 2363 Lacrimoauriculodentodigital syndrome 102285, 139042, 156246, 183580, 294959, 330206, 435606, 98609 Malformation syndrome 2378 Laurin-Sandrow syndrome 294959 Malformation syndrome 2917 Polydactyly-myopia syndrome 294959 Malformation syndrome 2920 Oliver syndrome 102283, 294959, 611327 Malformation syndrome 2935 Crossed polysyndactyly 294959 Malformation syndrome 2947 Triphalangeal thumbs-brachyectrodactyly syndrome 294959 Malformation syndrome 2957 Guttmacher syndrome 165707, 294959 Malformation syndrome 3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome 294959 Malformation syndrome 3168 Sillence syndrome 294959 Malformation syndrome 3172 Eyebrow duplication-syndactyly syndrome 294959 Malformation syndrome 3255 Filippi syndrome 102283, 294959, 611327 Malformation syndrome 3258 Cenani-Lenz syndrome 294959 Malformation syndrome 3259 Syndactyly-polydactyly-ear lobe syndrome 294959 Malformation syndrome 476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome 294959, 79365 Malformation syndrome 364198 Bipartite talus 109011, 364568, 404571 Morphological anomaly 364571 Dysostosis with limb and face anomalies as a major feature 364568, 404571 Category 2749 Oromandibular-limb hypogenesis syndrome 156215, 364571 Clinical group 141163 Glossopalatine ankylosis 2749 Malformation syndrome 199332 Endocrine-cerebro-osteodysplasia syndrome 101960, 364571, 459787, 471383 Malformation syndrome 364574 Acrofacial dysostosis 364571 Clinical group 949 Acrocraniofacial dysostosis 102285, 330206, 364574 Malformation syndrome 952 Acrofacial dysostosis, Weyers type 102285, 139036, 183576, 330206, 364574, 79373 Malformation syndrome 1131 X-linked mandibulofacial dysostosis 102283, 139036, 183576, 364574, 611327 Malformation syndrome 1784 Acrofrontofacionasal dysostosis 364574 Malformation syndrome 1786 Acrofacial dysostosis, Catania type 102283, 139036, 183576, 364574, 611327 Malformation syndrome 1788 Acrofacial dysostosis, Rodríguez type 102283, 139036, 183576, 364574, 611327 Malformation syndrome 1787 Acrofacial dysostosis, Palagonia type 139036, 183576, 364574 Malformation syndrome 64542 Acrofacial dysostosis, Kennedy-Teebi type 139036, 183576, 364574 Malformation syndrome 79113 Mandibulofacial dysostosis-microcephaly syndrome 102283, 139036, 139039, 183576, 364574, 611327 Malformation syndrome 3102 Richieri Costa-Pereira syndrome 102285, 139039, 330206, 364574 Malformation syndrome 2793 Otoonychoperoneal syndrome 102285, 330206, 364568, 404571, 79370 Malformation syndrome 3023 External auditory canal atresia-vertical talus-hypertelorism syndrome 102285, 156243, 330206, 364568, 404571 Malformation syndrome 1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome 102283, 364568, 611327 Malformation syndrome 139021 Malformation syndrome with short stature 93890 Category 915 Aarskog-Scott syndrome 102283, 139021, 165707, 183570, 611327 Malformation syndrome 125 Bloom syndrome 139021, 169346, 183422, 183490, 183570, 611314, 68347, 79390 Disease 813 Silver-Russell syndrome 102283, 139021, 183422, 183570, 519296, 611327, 641343 Disease 96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7 813, 98153 Etiological subtype 231137 Silver-Russell syndrome due to 7p11.2p13 microduplication 262749, 813 Etiological subtype 231140 Silver-Russell syndrome due to an imprinting defect of 11p15 813 Etiological subtype 231144 Silver-Russell syndrome due to 11p15 microduplication 262785, 813 Etiological subtype 231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11 813, 98153 Etiological subtype 397590 Silver-Russell syndrome due to a point mutation 813 Etiological subtype 1974 Autosomal recessive faciodigitogenital syndrome 102285, 139021, 165707, 183570, 330206 Malformation syndrome 2044 Floating-Harbor syndrome 102283, 139021, 183570, 611327 Malformation syndrome 2576 Mulibrey nanism 139021, 183570 Malformation syndrome 99741 King-Denborough syndrome 102283, 139021, 183570, 466658, 611327, 97245, 98742 Malformation syndrome 141333 Biemond syndrome type 2 102283, 139021, 611327 Disease 352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome 139021, 139027, 183570, 331217 Disease 391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome 139021, 183570, 441434 Malformation syndrome 423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome 102283, 139021, 183570, 611327 Malformation syndrome 1937 Eng-Strom syndrome 139021, 183570 Malformation syndrome 456298 1p35.2 microdeletion syndrome 102283, 139021, 261857, 611327, 90642 Malformation syndrome 457240 X-linked intellectual disability-short stature-overweight syndrome 102283, 139021, 183570, 611327 Malformation syndrome 457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome 102283, 139021, 183570, 611327 Malformation syndrome 1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome 102283, 139021, 183466, 183570, 611327, 79375 Malformation syndrome 480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability 102283, 139021, 183570, 611327 Malformation syndrome 2183 Hydrocephalus-obesity-hypogonadism syndrome 139021, 181441, 183570, 240371 Malformation syndrome 2714 Oculo-palato-cerebral syndrome 102283, 139021, 139039, 183570, 522548, 611327, 98641 Malformation syndrome 494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome 102283, 139021, 183570, 611327, 716405, 90642 Malformation syndrome 476406 Congenital generalized hypercontractile muscle stiffness syndrome 139021, 183570, 284790, 476403 Disease 902 Werner syndrome 139021, 139027, 139033, 183422, 183570, 222628, 363245, 522548, 79389, 98641 Disease 611216 Aplastic anemia-intellectual disability-dwarfism syndrome 139021, 183570, 611314, 68383 Disease 694946 Alazami-Yuan syndrome 102283, 139021, 183570, 611327, 79365 Malformation syndrome 686488 RNU4-2-related autosomal dominant neurodevelopmental disorder 102283, 139021, 183570, 611327 Malformation syndrome 633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome 102283, 139021, 183570, 611327 Disease 659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome 102283, 139021, 183570, 611327 Malformation syndrome 139024 Overgrowth/obesity syndrome 93890 Category 93460 Overgrowth syndrome 139024, 183573 Category 2128 Isolated hemihyperplasia 156207, 183422, 93460 Morphological anomaly 2849 Perlman syndrome 183422, 319328, 93460 Malformation syndrome 33445 Neuroectodermal melanolysosomal disease 139027, 166466, 183466, 522520, 79375, 93460, 98683 Malformation syndrome 93461 Chromosomal disease with overgrowth 93460 Category 1742 Trisomy 5p syndrome 262725, 93461, 98642 Malformation syndrome 96072 4p16.3 microduplication syndrome 262716, 93461 Malformation syndrome 314585 15q overgrowth syndrome 102283, 262950, 611327, 93461, 98642 Malformation syndrome 1707 Distal duplication 15q syndrome 314585 Etiological subtype 314588 Distal triplication 15q syndrome 314585 Etiological subtype 137634 Overgrowth-macrocephaly-facial dysmorphism syndrome 102283, 611327, 93460 Malformation syndrome 90307 Parkes Weber syndrome 183478, 211266, 235832, 459537, 715466, 79379, 93460 Disease 293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy 156638, 93460, 97978 Disease 404443 Tatton-Brown-Rahman syndrome 102283, 611327, 93460 Malformation syndrome 300305 11p15.4 microduplication syndrome 102283, 262785, 611327, 93460 Malformation syndrome 404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome 319328, 506213, 93460 Malformation syndrome 420179 Malan overgrowth syndrome 102283, 611327, 93460 Malformation syndrome 457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome 102283, 611327, 93460 Malformation syndrome 530313 PIK3CA-related overgrowth syndrome 93460 Clinical group 60040 Megalencephaly-capillary malformation-polymicrogyria syndrome 102283, 183422, 183478, 458830, 530313, 611327, 715453, 79379 Malformation syndrome 314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia 530313 Disease 295239 Macrodactyly of fingers, unilateral 295044, 530313 Clinical subtype 295243 Macrodactyly of toes, unilateral 295047, 530313 Clinical subtype 583097 Congenital infiltrating lipomatosis of the face 530313 Disease 168984 CLAPO syndrome 530313, 715460 Malformation syndrome 642675 CHD8 overgrowth syndrome 102283, 611327, 93460 Disease 240371 Syndromic obesity 139024, 77828 Category 819 Smith-Magenis syndrome 102283, 180772, 240371, 261965, 611327 Malformation syndrome 908 Fragile X syndrome 102283, 166469, 180772, 240371, 306765, 522520, 611327, 98683 Malformation syndrome 739 Prader-Willi syndrome 102283, 181387, 240371, 399846, 611327, 641343, 98033 Disease 98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 739, 98153 Etiological subtype 98793 Prader-Willi syndrome due to paternal 15q11q13 deletion 262119, 739 Etiological subtype 177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1 98793 Etiological subtype 177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2 98793 Etiological subtype 177907 Prader-Willi syndrome due to translocation 739 Etiological subtype 177910 Prader-Willi syndrome due to imprinting mutation 739 Etiological subtype 192 Coffin-Lowry syndrome 102283, 240371, 611327 Malformation syndrome 193 Cohen syndrome 102283, 240371, 331184, 611327, 716405 Malformation syndrome 276630 Symptomatic form of Coffin-Lowry syndrome in female carriers 102283, 240371, 611327 Malformation syndrome 1435 Xq21 microdeletion syndrome 240371, 716342, 90642 Malformation syndrome 2563 MOMO syndrome 240371 Malformation syndrome 3459 Wilson-Turner syndrome 102283, 240371, 611327 Malformation syndrome 75858 MORM syndrome 156165, 240371, 611314, 716405 Disease 85282 MEHMO syndrome 102283, 225700, 225703, 240371, 611327 Malformation syndrome 261222 Distal 16p11.2 microdeletion syndrome 240371, 261956 Malformation syndrome 352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome 102283, 240371, 611327 Disease 369950 Intellectual disability-seizures-macrocephaly-obesity syndrome 102283, 240371, 263708, 611327 Disease 397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome 102283, 240371, 611327 Disease 398073 Prader-Willi-like syndrome 102283, 181387, 240371, 399846, 611327, 98033 Clinical group 633028 CPE-related Prader-Willi-like syndrome 398073 Disease 171829 6q16 microdeletion syndrome 262047, 398073 Disease 398079 SIM1-related Prader-Willi-like syndrome 398073 Disease 398069 Schaaf-Yang syndrome 398073, 641343 Disease 99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome 180772, 240371, 611314 Disease 254516 Temple syndrome 102283, 240371, 611327, 641343 Malformation syndrome 96184 Temple syndrome due to maternal uniparental disomy of chromosome 14 254516, 98153 Etiological subtype 254525 Temple syndrome due to paternal 14q32.2 microdeletion 254516, 262110 Etiological subtype 254531 Temple syndrome due to paternal 14q32.2 hypomethylation 254516 Etiological subtype 521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome 100979, 240371, 611314 Malformation syndrome 589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome 102283, 240371, 611327, 98033 Disease 652487 Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome 240371, 611314 Malformation syndrome 293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome 101944, 156610, 240371 Disease 620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome 183592, 240371, 309848, 611314, 93603 Disease 600731 Clark-Baraitser syndrome 102283, 240371, 611327 Malformation syndrome 647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome 240371, 611314, 98033 Disease 139027 Rare developmental defect with skin/mucosae involvement 183530, 93890 Category 100 Ataxia-telangiectasia 139027, 166466, 169346, 183422, 183478, 252190, 485382, 519341, 522506, 522520, 611314, 79379, 95710, 98097, 98683 Disease 191 Cockayne syndrome 102283, 139027, 139033, 182070, 183422, 183500, 363245, 611327, 716405, 79389, 90642 Disease 90321 Cockayne syndrome type 1 191 Clinical subtype 90322 Cockayne syndrome type 2 191 Clinical subtype 90324 Cockayne syndrome type 3 191 Clinical subtype 3440 Waardenburg syndrome 102285, 139027, 183469, 330206, 79376, 90642 Disease 895 Waardenburg syndrome type 2 3440 Clinical subtype 113 Bazex-Dupré-Christol syndrome 139027, 183487, 79386 Disease 37 Acrodermatitis enteropathica 104005, 139027, 309845, 363306, 79217, 79387 Disease 1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome 117569, 139027, 165655, 183481, 568044, 79380 Disease 1117 Aplasia cutis-myopia syndrome 139027, 183481, 716405, 79380 Disease 1662 Restrictive dermopathy 102283, 139027, 300766, 611327 Disease 2272 Ichthyosis-oral and digital anomalies syndrome 102285, 139027, 281244, 330206 Malformation syndrome 2273 Ichthyosis follicularis-alopecia-photophobia syndrome 139027, 281210, 481771, 79364 Disease 2309 Pachyonychia congenita 139027, 79370, 98353 Disease 2959 Progeria-short stature-pigmented nevi syndrome 139027, 139033, 363245, 79389 Malformation syndrome 3455 Wiedemann-Rautenstrauch syndrome 102283, 139027, 139033, 363245, 611327, 79389, 98305 Malformation syndrome 2295 Familial articular hypermobility syndrome 139027, 139030, 182222, 228215, 271870 Disease 697356 Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome 102283, 139027, 139042, 611327, 79359 Malformation syndrome 257 Epidermolysis bullosa simplex with muscular dystrophy 139027, 206644, 209196, 519288, 522558, 595351 Disease 305 Junctional epidermolysis bullosa 139027, 79361 Clinical group 79403 Junctional epidermolysis bullosa with pyloric atresia 305, 98027 Disease 79404 Severe generalized junctional epidermolysis bullosa 305, 519288, 522558, 98027 Disease 79405 Junctional epidermolysis bullosa inversa 305, 98027 Disease 79406 Late-onset junctional epidermolysis bullosa 305, 98027 Disease 251393 Localized junctional epidermolysis bullosa 305, 98027 Disease 231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome 305, 611314, 98027 Disease 306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome 264670, 264992, 305, 567562 Disease 79402 Intermediate generalized junctional epidermolysis bullosa 305, 98027 Disease 303 Dystrophic epidermolysis bullosa 139027, 79361 Clinical group 79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form 303, 519288, 522558 Disease 79409 Recessive dystrophic epidermolysis bullosa inversa 303 Disease 595356 Localized dystrophic epidermolysis bullosa 303 Disease 79410 Localized dystrophic epidermolysis bullosa, pretibial form 595356 Clinical subtype 158673 Localized dystrophic epidermolysis bullosa, acral form 595356 Clinical subtype 158676 Localized dystrophic epidermolysis bullosa, nails only 595356 Clinical subtype 79411 Self-improving dystrophic epidermolysis bullosa 303 Disease 89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form 303, 519288, 522558 Disease 89843 Dystrophic epidermolysis bullosa pruriginosa 303 Disease 231568 Autosomal dominant generalized dystrophic epidermolysis bullosa 303 Disease 530 Lipoid proteinosis 139027, 477808, 79381 Malformation syndrome 79143 Isolated congenital anonychia 139027, 79369 Disease 90390 Anonychia-onychodystrophy syndrome 79143 Clinical subtype 94150 Anonychia congenita totalis 79143 Clinical subtype 79373 Ectodermal dysplasia syndrome 139027, 183447, 79362 Category 3200 Arthrogryposis-ectodermal dysplasia syndrome 79373, 97120 Malformation syndrome 464 Incontinentia pigmenti 166466, 611314, 716459, 717348, 79373, 98027 Malformation syndrome 477 KID syndrome 281244, 307804, 519290, 522566, 79373, 90642, 98352 Disease 189 Hidrotic ectodermal dysplasia 522548, 79373, 98352, 98641 Disease 1946 Amelocerebrohypohidrotic syndrome 139042, 183580, 611314, 79373 Malformation syndrome 1005 Alopecia-contractures-dwarfism-intellectual disability syndrome 102283, 611327, 79373 Malformation syndrome 1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia 79373, 98352 Disease 1028 Amelo-onycho-hypohidrotic syndrome 79373 Malformation syndrome 1174 Cerebellar ataxia-ectodermal dysplasia syndrome 79373 Malformation syndrome 1262 Böök syndrome 79373 Malformation syndrome 1264 Tricho-retino-dento-digital syndrome 522548, 716405, 79373, 98641 Malformation syndrome 1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia 307804, 522548, 79373, 98641 Disease 1375 Cataract-hypertrichosis-intellectual disability syndrome 522548, 611314, 79365, 79373, 98641 Malformation syndrome 1433 Choroidal atrophy-alopecia syndrome 716299, 79373 Malformation syndrome 1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome 102283, 139039, 611327, 79373 Malformation syndrome 1563 Dahlberg-Borer-Newcomer syndrome 102285, 181402, 330206, 522548, 568044, 79373, 98641 Malformation syndrome 1573 Hypotrichosis with juvenile macular degeneration 716427, 79373 Malformation syndrome 1657 Dermatoosteolysis, Kirghizian type 79373 Malformation syndrome 1660 Dermoodontodysplasia 139042, 183580, 79373 Malformation syndrome 2251 Thumb deformity-alopecia-pigmentation anomaly syndrome 109009, 404577, 79373 Malformation syndrome 1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type 79373 Malformation syndrome 1809 Hidrotic ectodermal dysplasia, Halal type 102283, 611327, 79373 Malformation syndrome 1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome 102283, 611327, 79373 Malformation syndrome 1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome 177107, 79373 Malformation syndrome 1883 Ectodermal dysplasia-sensorineural deafness syndrome 79373, 90642 Malformation syndrome 1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome 102283, 611327, 79373 Malformation syndrome 1818 Ectodermal dysplasia, trichoodontoonychial type 139042, 183580, 79373 Malformation syndrome 2026 Gingival fibromatosis-hypertrichosis syndrome 139042, 183580, 79365, 79373 Malformation syndrome 2036 Scalp-ear-nipple syndrome 102285, 180173, 183481, 330206, 522548, 79373, 79380, 98641 Malformation syndrome 2067 GAPO syndrome 102283, 139042, 183580, 441434, 522564, 611327, 79373, 98623 Malformation syndrome 2220 Hypertrichosis cubiti 79365, 79373 Malformation syndrome 2222 Hypertrichosis lanuginosa congenita 79365, 79373 Disease 1023 Congenital generalized hypertrichosis, Ambras type 2222 Clinical subtype 79495 X-linked congenital generalized hypertrichosis 2222 Clinical subtype 2228 Hypodontia-dysplasia of nails syndrome 139042, 183580, 79373 Malformation syndrome 2316 Johnson neuroectodermal syndrome 102283, 611327, 79373 Malformation syndrome 2561 Pyramidal molars-abnormal upper lip syndrome 102285, 139042, 183580, 330206, 79373 Malformation syndrome 2713 Oculoosteocutaneous syndrome 522520, 79373, 98683 Malformation syndrome 2718 Oculotrichodysplasia 716393, 79373 Malformation syndrome 2721 Odonto-onycho-dermal dysplasia 139042, 183580, 307804, 79373 Disease 2722 Odonto-onycho dysplasia-alopecia syndrome 139042, 183580, 79373 Malformation syndrome 2723 Odontotrichomelic syndrome 139039, 139042, 183580, 79373 Malformation syndrome 678 Papillon-Lefèvre syndrome 139042, 183580, 307804, 309340, 674648, 79373 Disease 2890 Pili torti-onychodysplasia syndrome 79373 Malformation syndrome 2892 Pilodental dysplasia-refractive errors syndrome 139042, 183580, 79373 Malformation syndrome 2930 Cronkhite-Canada syndrome 104010, 79373 Disease 3194 Corneodermatoosseous syndrome 79373, 98628 Malformation syndrome 3220 Deafness-enamel hypoplasia-nail defects syndrome 139042, 183580, 79373, 90642 Malformation syndrome 3231 Deafness-onychodystrophy syndrome 102283, 522548, 611327, 79370, 79373, 90642, 98641 Clinical group 79499 Autosomal dominant deafness-onychodystrophy syndrome 3231 Malformation syndrome 79500 DOORS syndrome 3231 Malformation syndrome 3236 Conductive deafness-ptosis-skeletal anomalies syndrome 79373 Malformation syndrome 3339 Oculoectodermal syndrome 79373 Malformation syndrome 3351 Trichodental syndrome 139042, 183580, 79367, 79373 Malformation syndrome 3353 Trichodermodysplasia-dental alterations syndrome 139042, 183580, 79373 Malformation syndrome 3355 Trichoodontoonychial dysplasia 139042, 183580, 79373 Malformation syndrome 3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome 102283, 611327, 716342, 79373 Malformation syndrome 33364 Trichothiodystrophy 281222, 399771, 522548, 611314, 79367, 79373, 98641 Disease 50944 Schöpf-Schulz-Passarge syndrome 139042, 183422, 183580, 307804, 79373 Disease 69082 Odonto-tricho-ungual-digito-palmar syndrome 139042, 183580, 79373 Malformation syndrome 69083 Ectodermal dysplasia with natal teeth, Turnpenny type 139042, 183580, 79373 Malformation syndrome 69084 Pure hair and nail ectodermal dysplasia 79373 Malformation syndrome 69087 Naegeli-Franceschetti-Jadassohn syndrome 183466, 79373, 79375, 98352 Disease 69125 Anonychia with flexural pigmentation 79370, 79373 Malformation syndrome 79129 Trichodysplasia-amelogenesis imperfecta syndrome 139042, 183580, 79373 Malformation syndrome 86920 Dermatopathia pigmentosa reticularis 183466, 79373, 79375, 98352 Disease 98609 EEC syndrome and related disorders 522532, 79373, 98602 Category 99672 Fried's tooth and nail syndrome 79373 Malformation syndrome 99688 Dermotrichic syndrome 79373 Malformation syndrome 140936 Lelis syndrome 79373 Malformation syndrome 158668 Ectodermal dysplasia-skin fragility syndrome 79373 Disease 238468 Hypohidrotic ectodermal dysplasia 79373, 98027, 98604 Disease 181 X-linked hypohidrotic ectodermal dysplasia 238468 Etiological subtype 248 Autosomal recessive hypohidrotic ectodermal dysplasia 238468 Etiological subtype 1810 Autosomal dominant hypohidrotic ectodermal dysplasia 238468 Etiological subtype 247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome 79373 Malformation syndrome 247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome 79373 Malformation syndrome 307766 Curly hair-acral keratoderma-caries syndrome 139042, 79373, 98352 Disease 307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome 139042, 79373, 98353 Disease 3253 Cleft lip/palate-ectodermal dysplasia syndrome 139039, 611314, 79373 Malformation syndrome 398166 Focal facial dermal dysplasia 79373 Malformation syndrome 1807 Focal facial dermal dysplasia type III 398166 Clinical subtype 79133 Focal facial dermal dysplasia type I 398166 Clinical subtype 398173 Focal facial dermal dysplasia type II 398166 Clinical subtype 398189 Focal facial dermal dysplasia type IV 398166 Clinical subtype 423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome 183466, 79373, 79375, 98357 Disease 1401 CHAND syndrome 156237, 79373 Malformation syndrome 293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome 307804, 434809, 79373 Disease 2266 Hypotrichosis-intellectual disability, Lopes type 102283, 611327, 79373 Disease 447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome 140162, 183463, 307804, 481771, 77830, 79364, 79373, 79374, 98027 Disease 685067 Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome 102285, 330206, 79373, 98027 Disease 98813 Hypohidrotic ectodermal dysplasia with immunodeficiency 331217, 506219, 79373, 98027, 98604 Disease 98249 Ehlers-Danlos syndrome 139027, 139030, 182222, 228215, 619249 Clinical group 285 Hypermobile Ehlers-Danlos syndrome 98249 Disease 286 Vascular Ehlers-Danlos syndrome 285014, 98249 Disease 536545 Kyphoscoliotic Ehlers-Danlos syndrome 98249 Disease 1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency 519296, 536545 Clinical subtype 300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency 536545 Clinical subtype 1899 Arthrochalasia Ehlers-Danlos syndrome 98249 Disease 1901 Dermatosparaxis Ehlers-Danlos syndrome 98249 Disease 75392 Periodontal Ehlers-Danlos syndrome 98027, 98249 Disease 536471 Spondylodysplastic Ehlers-Danlos syndrome 98249 Disease 75497 X-linked Ehlers-Danlos syndrome 98249 Disease 90354 Brittle cornea syndrome 98249, 98628 Disease 536516 Myopathic Ehlers-Danlos syndrome 97242, 98249 Disease 636941 Vascular Ehlers-Danlos-polymicrogyria syndrome 98249 Disease 289465 Isolated congenital adermatoglyphia 139027 Disease 438134 PCNA-related progressive neurodegenerative photosensitivity syndrome 139027, 139033, 182070, 183422, 183500, 363245, 611314, 79389, 90642 Disease 139030 Rare developmental defect with connective tissue involvement 183530, 93890 Category 79094 Grange syndrome 102283, 102285, 139030, 330206, 611327 Malformation syndrome 171719 Cutis laxa-Marfanoid syndrome 139030, 284993 Malformation syndrome 300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency 139030, 182222, 619249, 90642 Disease 314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome 139030 Malformation syndrome 697101 Fontaine progeroid syndrome 139030, 139033, 182222, 619249, 79389 Disease 2963 Progeroid syndrome, Petty type 697101 Clinical subtype 2095 Gorlin-Chaudhry-Moss syndrome 697101 Clinical subtype 139033 Progeroid syndrome 93890 Category 508 Donohue syndrome 102285, 139033, 181368, 330206, 363245, 79365 Malformation syndrome 528 Congenital generalized lipodystrophy 102283, 139033, 181368, 363245, 611327, 98305 Disease 696289 Congenital generalized lipodystrophy type 2 528 Clinical subtype 696242 PPARG-associated congenital generalized lipodystrophy 528 Clinical subtype 696206 Congenital generalized lipodystrophy type 3 528 Clinical subtype 696189 Congenital generalized lipodystrophy type 1 528 Clinical subtype 228429 Congenital generalized lipodystrophy type 4 528 Clinical subtype 2348 Familial partial lipodystrophy, Dunnigan type 139033, 300763, 363245, 98306 Disease 2985 Pseudoprogeria syndrome 102283, 139033, 363245, 611327 Malformation syndrome 2909 Rothmund-Thomson syndrome 139033, 183490, 222628, 363245, 79390, 98649 Disease 221008 Rothmund-Thomson syndrome type 1 2909 Clinical subtype 221016 Rothmund-Thomson syndrome type 2 183422, 2909 Clinical subtype 79474 Atypical Werner syndrome 139033, 300766, 363245 Disease 276432 Ogden syndrome 102283, 139033, 363245, 611327 Malformation syndrome 363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome 139033, 363245, 79389, 90642, 98305 Disease 363665 Acroosteolysis-keloid-like lesions-premature aging syndrome 139033, 363245, 79389 Disease 435953 Progeroid features-hepatocellular carcinoma predisposition syndrome 139033, 140162, 363245 Disease 659873 Wormian bones-micrognathia-abnormal dentition-progeroid syndrome 102285, 139033, 139042, 330206, 363245 Malformation syndrome 139036 Branchial arch or oral-acral syndrome 93890 Category 2213 Hypertelorism-microtia-facial clefting syndrome 102283, 139036, 139039, 183576, 611327 Malformation syndrome 2792 Otofaciocervical syndrome 102283, 139036, 183576, 611327 Malformation syndrome 231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome 139036, 183576 Malformation syndrome 139042 Malformation syndrome with odontal and/or periodontal component 93890, 98026 Category 2720 Oculocerebral hypopigmentation syndrome, Preus type 102283, 139042, 183580, 284811, 522548, 611327, 98641 Malformation syndrome 576278 SATB2-associated syndrome 102283, 139042, 156237, 611327, 77830 Malformation syndrome 251028 SATB2-associated syndrome due to a chromosomal rearrangement 262010, 576278 Etiological subtype 576283 SATB2-associated syndrome due to a pathogenic variant 576278 Etiological subtype 627 Nance-Horan syndrome 102283, 139042, 183580, 611327, 98649 Malformation syndrome 1031 Enamel-renal syndrome 139042, 183580, 506213, 93593 Malformation syndrome 3196 Steroid dehydrogenase deficiency-dental anomalies syndrome 101940, 139042, 183580 Disease 1811 Odontomicronychial dysplasia 139042, 79370 Malformation syndrome 1873 Jalili syndrome 139042, 183580, 716405 Malformation syndrome 2010 Cleft palate-stapes fixation-oligodontia syndrome 139042, 183580 Malformation syndrome 2025 Gingival fibromatosis-facial dysmorphism syndrome 102285, 139042, 183580, 330206 Malformation syndrome 2027 Gingival fibromatosis-progressive deafness syndrome 139042, 183580, 90642 Malformation syndrome 2342 Haim-Munk syndrome 139042, 183580, 307804, 309340 Disease 2709 Oculodental syndrome, Rutherfurd type 139042, 183580, 98628 Malformation syndrome 2719 Oculocerebral hypopigmentation syndrome, Cross type 102283, 139042, 183580, 284811, 522548, 611327, 98641 Malformation syndrome 2724 Odontomatosis-aortae esophagus stenosis syndrome 139042, 183580 Malformation syndrome 2791 Otodental syndrome 139042, 183580, 262092 Malformation syndrome 2916 Postaxial polydactyly-dental and vertebral anomalies syndrome 139042, 183580 Malformation syndrome 2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome 139042, 183580 Malformation syndrome 3184 Steatocystoma multiplex-natal teeth syndrome 139042, 183460, 183580, 79372 Malformation syndrome 3230 Deafness-oligodontia syndrome 139042, 183580, 90642 Malformation syndrome 562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome 102283, 139042, 522520, 611327, 77830, 98683 Malformation syndrome 3473 Zimmermann-Laband syndrome 102283, 139042, 183580, 611327 Malformation syndrome 99806 Oculootodental syndrome 139042, 183580, 262092 Malformation syndrome 180766 Malformative syndrome with dentinogenesis imperfecta 139042, 77830 Category 71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome 102283, 180766, 183580, 611327, 90642 Malformation syndrome 401911 AXIN2-related polyposis 104010, 139042 Disease 684232 Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome 102283, 139042, 166472, 183580, 611327 Malformation syndrome 598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome 102283, 139042, 183580, 611327, 79365 Malformation syndrome 155832 Rare head and neck malformation 93890 Category 1991 Cleft lip with or without cleft palate 155832, 68329 Clinical group 141291 Cleft lip and alveolus 1991 Morphological anomaly 199302 Isolated cleft lip 1991 Morphological anomaly 199306 Cleft lip/palate 1991 Morphological anomaly 2699 Median nodule of the upper lip 155832 Malformation syndrome 2014 Cleft palate 155832, 68329 Clinical group 99771 Bifid uvula 2014 Morphological anomaly 99772 Cleft velum 2014 Morphological anomaly 101023 Cleft hard palate 2014 Morphological anomaly 155878 Submucosal cleft palate 2014 Morphological anomaly 664372 Soft and hard cleft palate 2014 Morphological anomaly 1166 Congenital unilateral hypoplasia of depressor anguli oris 155832 Morphological anomaly 96333 Rare otorhinolaryngological malformation 155832, 98036 Category 155835 Cysts and fistulae of the face and oral cavity 96333 Category 93953 Familial thyroglossal duct cyst 155835, 95718 Morphological anomaly 141013 First branchial cleft anomaly 155835 Morphological anomaly 141022 Second branchial cleft anomaly 155835 Morphological anomaly 141030 Third branchial cleft anomaly 155835 Morphological anomaly 141037 Fourth branchial cleft anomaly 155835 Morphological anomaly 141046 Cervical dermoid cyst 155835 Morphological anomaly 141051 Facial dermoid cyst 155835 Morphological anomaly 141061 Commissural lip fistula 155835 Morphological anomaly 141064 Isolated lower lip fistula 155835 Morphological anomaly 141067 Cervicofacial fibrochondroma 155835 Morphological anomaly 141071 Isolated digestive duplication cyst of the tongue 155835 Morphological anomaly 141103 Nasal dermoid cyst 155835 Morphological anomaly 141219 Nasal dorsum fistula 155835 Morphological anomaly 155838 Pinnae fistula or cyst 155835 Morphological anomaly 156243 Pinnae and external auditory canal anomaly 435603, 96333 Category 83463 Microtia 156243 Morphological anomaly 93976 Anotia 156243 Morphological anomaly 141074 External auditory canal aplasia/hypoplasia 156243 Morphological anomaly 500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome 156243, 90642 Malformation syndrome 156246 Nose and cavum anomaly 96333 Category 99141 Lymphedema-posterior choanal atresia syndrome 156246, 2415, 289825, 435606 Malformation syndrome 2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome 102285, 156246, 181387, 330206, 435606, 522548, 98641 Disease 1200 Burn-McKeown syndrome 102285, 156246, 330206, 435606, 90642 Malformation syndrome 1252 Blepharonasofacial malformation syndrome 102283, 156246, 435606, 611327 Malformation syndrome 2695 Bifid nose 141234, 156246, 435606 Malformation syndrome 3026 Radial ray hypoplasia-choanal atresia syndrome 156246, 435606, 522520, 98683 Malformation syndrome 1134 Isolated arrhinia 156246 Malformation syndrome 137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome 156246, 363300, 435606, 73014 Malformation syndrome 137914 Choanal atresia 156246 Morphological anomaly 137917 Choanal atresia, unilateral 137914 Clinical subtype 137920 Choanal atresia, bilateral 137914 Clinical subtype 141091 Polyrrhinia 156246 Malformation syndrome 141096 Supernumerary nostril 156246 Malformation syndrome 141099 Proboscis lateralis 156246 Malformation syndrome 141112 Nasal glial heterotopia 156246, 98061 Disease 162516 Isolated congenital nasal pyriform aperture stenosis 156246 Malformation syndrome 466695 Supratip dysplasia 156246 Morphological anomaly 589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome 102283, 156246, 177107, 181402, 435606, 611327, 90642 Malformation syndrome 156249 Larynx anomaly 96333 Category 2373 Congenital laryngomalacia 156249, 435609 Malformation syndrome 2374 Isolated congenital laryngeal web 156249, 435609 Malformation syndrome 1202 Larynx atresia 156249, 435609 Malformation syndrome 2372 Laryngocele 156249 Malformation syndrome 2291 Congenital velopharyngeal incompetence 156249, 435609 Morphological anomaly 2808 Laryngeal abductor paralysis 156249, 435609 Malformation syndrome 137926 Primary laryngeal lymphangioma 156249 Malformation syndrome 137932 Congenital laryngeal palsy 156249, 182086 Malformation syndrome 137935 Airway infantile hemangioma 156249, 210589 Disease 141121 Congenital subglottic stenosis 156249 Malformation syndrome 141124 Congenital laryngeal cyst 156249 Morphological anomaly 156252 Tracheal anomaly 96333 Category 141127 Congenital tracheal stenosis 156252, 435612 Morphological anomaly 164004 Middle and/or inner ear anomaly 96333 Category 502318 Cochlear nerve deficiency 164004 Morphological anomaly 686556 Isolated congenital cholesteatoma of the middle ear 164004 Morphological anomaly 502305 Cochleovestibular malformation 164004 Morphological anomaly 162526 Isolated congenital auditory ossicle malformation 164004 Morphological anomaly 141229 Facial cleft 155832, 68329 Category 141234 Median facial cleft 141229 Clinical group 2006 Median cleft lip/mandible 141234 Morphological anomaly 141239 Median cleft of the upper lip and maxilla 141234 Morphological anomaly 141288 Midline cervical cleft 141234 Morphological anomaly 401942 Familial median cleft of the upper and lower lips 141234, 414726 Malformation syndrome 141253 Oblique facial cleft 141229 Clinical group 141258 Tessier number 4 facial cleft 141253, 414726 Morphological anomaly 141261 Tessier number 5 facial cleft 141253 Morphological anomaly 141265 Tessier number 6 facial cleft 141253 Morphological anomaly 155884 Coloboma of superior eyelid 141253 Morphological anomaly 155889 Coloboma of inferior eyelid 141253 Morphological anomaly 141269 Lateral facial cleft 141229, 414726 Clinical group 141276 Tessier number 7 facial cleft 141269 Morphological anomaly 155867 Paramedian facial cleft 141229 Clinical group 141242 Paramedian nasal cleft 155867 Morphological anomaly 156207 Macroglossia 155832, 183583, 68329 Category 2430 Congenital macroglossia 156207 Malformation syndrome 141145 Hemifacial hyperplasia 156207 Malformation syndrome 141148 Hemifacial myohyperplasia 156207 Malformation syndrome 156212 Hypoglossia/aglossia 155832, 183583, 68329 Category 141152 Isolated congenital hypoglossia/aglossia 156212 Morphological anomaly 563954 Isolated congenital hypoglossia 141152 Clinical subtype 563951 Isolated congenital aglossia 141152 Clinical subtype 156215 Oromandibular-limb anomalies syndrome 156212 Category 156224 Paralytic facial malformation 155832, 183583, 68329 Category 156237 Syndrome or malformation associated with head and neck malformations 155832, 183583, 68329, 98036 Category 458833 Common cystic lymphatic malformation 156237, 2415 Clinical group 79489 Macrocystic lymphatic malformation 458833 Malformation syndrome 79490 Microcystic lymphatic malformation 458833 Malformation syndrome 458792 Mixed cystic lymphatic malformation 458833 Malformation syndrome 1600 Monosomy 18q syndrome 156237, 262146, 98642 Malformation syndrome 718 Isolated Pierre Robin sequence 156237 Malformation syndrome 888 Van der Woude syndrome 102285, 156237, 330206 Malformation syndrome 1150 Arthrogryposis multiplex congenita-whistling face syndrome 1037, 156237 Malformation syndrome 1248 Maxillonasal dysplasia 102285, 156237, 330206, 90642 Malformation syndrome 2215 Multiple pterygium-malignant hyperthermia syndrome 1037, 156237, 466658 Malformation syndrome 2461 Marden-Walker syndrome 102283, 1037, 156237, 611327 Malformation syndrome 2952 Adducted thumbs-arthrogryposis syndrome, Christian type 1037, 156237 Malformation syndrome 2460 Van den Ende-Gupta syndrome 102285, 1037, 156237, 330206 Malformation syndrome 138044 Rare disease with Pierre Robin syndrome 156237 Category 138041 Pierre Robin syndrome associated with collagen disease 138044, 363294 Category 138047 Pierre Robin syndrome associated with a chromosomal anomaly 138044, 363294 Category 436003 Contractures-developmental delay-Pierre Robin syndrome 102283, 138047, 262038, 611327 Malformation syndrome 261323 21q22.11q22.12 microdeletion syndrome 102283, 138047, 262173, 477794, 611327 Malformation syndrome 138050 Pierre Robin syndrome associated with branchial archs anomalies 138044, 363294 Category 138055 Pierre Robin syndrome associated with bone disease 138044, 363294 Category 138059 Teratogenic Pierre Robin syndrome 138044 Category 1920 Toluene embryopathy 138059, 251529 Malformation syndrome 1923 Methimazole embryofetopathy 138059, 251529 Malformation syndrome 2209 Maternal phenylketonuria syndrome 102283, 138059, 251535, 611327, 708881 Malformation syndrome 2216 Maternal hyperthermia-induced birth defects 138059, 251535 Malformation syndrome 2305 Isotretinoin syndrome 138059, 251529 Malformation syndrome 1915 Fetal alcohol syndrome 138059, 251529 Malformation syndrome 295 Fetal parvovirus syndrome 138059, 232035 Malformation syndrome 1908 Aminopterin/methotrexate embryofetopathy 138059, 251529 Malformation syndrome 1909 Indomethacin embryofetopathy 138059, 251529 Malformation syndrome 1910 Fetal iodine syndrome 138059, 238696, 251529 Malformation syndrome 1911 Cocaine embryofetopathy 138059, 251529 Malformation syndrome 1918 Fetal minoxidil syndrome 138059, 251529 Malformation syndrome 1912 Fetal hydantoin syndrome 138059, 370068 Malformation syndrome 1913 Fetal trimethadione syndrome 138059, 370068 Malformation syndrome 1914 Vitamin K antagonist embryofetopathy 138059, 251529 Malformation syndrome 1917 Fetal methylmercury syndrome 138059, 251529 Malformation syndrome 1919 Phenobarbital embryopathy 138059, 370068 Malformation syndrome 485358 Propylthiouracil embryofetopathy 138059, 251529 Malformation syndrome 364577 Intellectual disability-brachydactyly-Pierre Robin syndrome 102283, 138044, 363294, 611327 Malformation syndrome 139039 Orofacial clefting syndrome 156237 Category 124 Diamond-Blackfan anemia 139039, 183422, 611314, 68383, 79191 Disease 1358 Carey-Fineman-Ziter syndrome 102283, 139039, 611327, 97245 Malformation syndrome 921 Abruzzo-Erickson syndrome 102285, 139039, 165707, 330206 Malformation syndrome 1226 Bamforth-Lazarus syndrome 139039, 177107 Malformation syndrome 1241 Bencze syndrome 102285, 139039, 330206 Malformation syndrome 1297 Branchio-oculo-facial syndrome 102285, 139039, 330206 Malformation syndrome 1512 Crane-Heise syndrome 102283, 139039, 611327 Malformation syndrome 2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome 102285, 139039, 330206 Malformation syndrome 2003 Cleft lip/palate-deafness-sacral lipoma syndrome 139039, 90642 Malformation syndrome 2008 Acrocardiofacial syndrome 102283, 139039, 611327 Malformation syndrome 2013 Cleft palate-large ears-small head syndrome 139039 Malformation syndrome 2016 Cleft palate-lateral synechia syndrome 102285, 139039, 330206 Malformation syndrome 2075 Genitopalatocardiac syndrome 102285, 139039, 330206, 98087 Malformation syndrome 376 Gordon syndrome 102285, 139039, 330206, 97120 Malformation syndrome 2167 Holzgreve syndrome 102285, 139039, 330206 Malformation syndrome 2319 Juberg-Hayward syndrome 102285, 139039, 330206 Malformation syndrome 2328 Kapur-Toriello syndrome 102283, 139039, 611327 Malformation syndrome 2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome 139039 Malformation syndrome 2511 Microbrachycephaly-ptosis-cleft lip syndrome 102283, 139039, 522520, 611327, 98683 Malformation syndrome 2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome 102283, 139039, 611327 Malformation syndrome 2804 W syndrome 102283, 139039, 611327 Malformation syndrome 2825 PARC syndrome 102285, 139039, 330206 Malformation syndrome 2888 Pierre Robin syndrome-faciodigital anomaly syndrome 139039 Malformation syndrome 3104 Robin sequence-oligodactyly syndrome 139039 Malformation syndrome 3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome 102285, 139039, 330206 Malformation syndrome 3424 Velo-facial-skeletal syndrome 102285, 139039, 330206 Malformation syndrome 3429 Verloove Vanhorick-Brubakk syndrome 102285, 139039, 330206 Malformation syndrome 3448 Weaver-Williams syndrome 102283, 139039, 611327 Malformation syndrome 477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome 102283, 139039, 183580, 611327 Malformation syndrome 1415 Hardikar syndrome 139039, 716342 Malformation syndrome 2015 Cleft palate-short stature-vertebral anomalies syndrome 102283, 139039, 611327 Malformation syndrome 1779 Dysmorphism-cleft palate-loose skin syndrome 139039 Malformation syndrome 3263 Syngnathia-cleft palate syndrome 139039 Malformation syndrome 77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome 102285, 139039, 330206 Malformation syndrome 140963 Bilateral microtia-deafness-cleft palate syndrome 139039, 90642 Malformation syndrome 168572 Native American myopathy 139039, 466658, 97245 Malformation syndrome 324601 X-linked cleft palate and ankyloglossia 139039 Malformation syndrome 660021 Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome 102283, 139039, 611327 Malformation syndrome 141214 Isolated congenital syngnathia 156237 Malformation syndrome 694956 Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome 102283, 156237, 611327 Malformation syndrome 68335 Rare chromosomal anomaly 93890, 98053 Category 1052 Mosaic variegated aneuploidy syndrome 102283, 183422, 611327, 68335, 98638, 98642 Malformation syndrome 96321 Polyploidy syndrome 68335 Category 3305 Tetraploidy syndrome 96321 Malformation syndrome 3376 Triploidy syndrome 459787, 471383, 96321, 98642 Malformation syndrome 98127 Autosomal anomaly syndrome 68335 Category 363203 Ring chromosome syndrome 98127 Category 96172 Ring chromosome 3 syndrome 363203 Malformation syndrome 96173 Ring chromosome 9 syndrome 363203 Malformation syndrome 96175 Ring chromosome 11 syndrome 363203 Malformation syndrome 96177 Ring chromosome 15 syndrome 363203 Malformation syndrome 96178 Ring chromosome 16 syndrome 363203 Malformation syndrome 251043 Ring chromosome 5 syndrome 363203 Malformation syndrome 1442 Ring chromosome 18 syndrome 363203 Malformation syndrome 1446 Ring chromosome 22 syndrome 363203 Malformation syndrome 1437 Ring chromosome 1 syndrome 363203 Malformation syndrome 1438 Ring chromosome 10 syndrome 102283, 363203, 611327 Malformation syndrome 1439 Ring chromosome 12 syndrome 363203 Malformation syndrome 1444 Ring chromosome 20 syndrome 166469, 363203 Malformation syndrome 1447 Ring chromosome 4 syndrome 363203 Malformation syndrome 1448 Ring chromosome 6 syndrome 363203 Malformation syndrome 1450 Ring chromosome 8 syndrome 363203 Malformation syndrome 1445 Ring chromosome 21 syndrome 363203 Malformation syndrome 1440 Ring chromosome 14 syndrome 166469, 363203 Malformation syndrome 1443 Ring chromosome 19 syndrome 363203 Malformation syndrome 1449 Ring chromosome 7 syndrome 363203 Malformation syndrome 1441 Ring chromosome 17 syndrome 363203 Malformation syndrome 96171 Ring chromosome 2 syndrome 363203 Malformation syndrome 98130 Autosomal trisomy syndrome 98127 Category 98131 Total autosomal trisomy syndrome 98130 Category 1703 Mosaic trisomy 14 syndrome 98131 Malformation syndrome 1692 Mosaic trisomy 1 syndrome 98131 Malformation syndrome 1698 Mosaic trisomy 12 syndrome 98131 Malformation syndrome 1706 Mosaic trisomy 15 syndrome 98131 Malformation syndrome 1708 Mosaic trisomy 16 syndrome 98131 Malformation syndrome 1711 Mosaic trisomy 17 syndrome 98131 Malformation syndrome 1723 Mosaic trisomy 2 syndrome 98131 Malformation syndrome 1724 Mosaic trisomy 20 syndrome 98131 Malformation syndrome 1747 Mosaic trisomy 7 syndrome 98131 Malformation syndrome 96059 Mosaic trisomy 4 syndrome 98131 Malformation syndrome 96060 Mosaic trisomy 5 syndrome 98131 Malformation syndrome 96061 Mosaic trisomy 8 syndrome 98131 Malformation syndrome 96063 Mosaic trisomy 10 syndrome 98131 Malformation syndrome 96068 Mosaic trisomy 22 syndrome 98131 Malformation syndrome 99776 Mosaic trisomy 9 syndrome 98131 Malformation syndrome 100071 Mosaic trisomy 3 syndrome 98131 Malformation syndrome 98132 Partial autosomal duplication/triplication syndrome 98130 Category 96055 Tetrasomy 21 syndrome 98132 Malformation syndrome 262191 Partial duplication of chromosome 1 syndrome 98132 Category 262833 Partial duplication of the long arm of chromosome 1 syndrome 262191 Category 250994 1q21.1 microduplication syndrome 262833 Malformation syndrome 261344 Trisomy 1q syndrome 262833 Malformation syndrome 264431 Partial duplication of the short arm of chromosome 1 syndrome 262191 Category 96069 Distal duplication 1p36 syndrome 264431 Malformation syndrome 262196 Partial duplication of chromosome 2 syndrome 98132 Category 262698 Partial duplication of the short arm of chromosome 2 syndrome 262196 Category 699850 2p25.3 microduplication syndrome 262698, 611314 Malformation syndrome 96070 Distal duplication 2p syndrome 262698, 98642 Malformation syndrome 262842 Partial duplication of the long arm of chromosome 2 syndrome 262196 Category 96094 Distal duplication 2q syndrome 262842 Malformation syndrome 294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication 262842 Malformation syndrome 313947 2q23.1 microduplication syndrome 102283, 262842, 611327 Malformation syndrome 262201 Partial duplication of chromosome 3 syndrome 98132 Category 262707 Partial duplication of the short arm of chromosome 3 syndrome 262201 Category 96071 Distal duplication 3p syndrome 262707 Malformation syndrome 262851 Partial duplication of the long arm of chromosome 3 syndrome 262201 Category 96095 3q26 microduplication syndrome 262851, 98642 Malformation syndrome 251038 3q29 microduplication syndrome 262851 Malformation syndrome 262206 Partial duplication of chromosome 4 syndrome 98132 Category 262716 Partial duplication of the short arm of chromosome 4 syndrome 262206 Category 1738 Trisomy 4p syndrome 262716 Malformation syndrome 262860 Partial duplication of the long arm of chromosome 4 syndrome 262206 Category 96096 Distal duplication 4q syndrome 262860 Malformation syndrome 262211 Partial duplication/triplication of chromosome 5 syndrome 98132 Category 262725 Partial duplication/triplication of the short arm of chromosome 5 syndrome 262211 Category 3309 Tetrasomy 5p syndrome 262725, 98642 Malformation syndrome 329802 5p13 microduplication syndrome 102283, 262725, 611327 Malformation syndrome 262869 Partial duplication of the long arm of chromosome 5 syndrome 262211 Category 96097 Distal duplication 5q syndrome 262869 Malformation syndrome 99027 Adult-onset autosomal dominant leukodystrophy 262869, 519341, 522506, 68356 Disease 228415 5q35 microduplication syndrome 262869 Malformation syndrome 262628 Partial duplication of chromosome 6 syndrome 98132 Category 262740 Partial duplication of the short arm of chromosome 6 syndrome 262628 Category 1745 Distal duplication 6p syndrome 262740 Malformation syndrome 262878 Partial duplication of the long arm of chromosome 6 syndrome 262628 Category 96098 Distal duplication 6q syndrome 262878 Malformation syndrome 262633 Partial duplication of chromosome 7 syndrome 98132 Category 262749 Partial duplication of the short arm of chromosome 7 syndrome 262633 Category 96074 Distal duplication 7p syndrome 262749 Malformation syndrome 314034 7p22.1 microduplication syndrome 102283, 262749, 611327 Malformation syndrome 262887 Partial duplication of the long arm of chromosome 7 syndrome 262633 Category 96121 7q11.23 microduplication syndrome 262887 Malformation syndrome 261102 Distal 7q11.23 microduplication syndrome 262887 Malformation syndrome 262638 Partial duplication of chromosome 8 syndrome 98132 Category 262758 Partial duplication of the short arm of chromosome 8 syndrome 262638 Category 251076 8p23.1 duplication syndrome 262758 Malformation syndrome 264450 Trisomy 8p syndrome 262758 Malformation syndrome 262896 Partial duplication of the long arm of chromosome 8 syndrome 262638 Category 1752 Trisomy 8q syndrome 262896 Malformation syndrome 96100 Distal duplication 8q syndrome 262896 Malformation syndrome 228399 8q12 microduplication syndrome 262896, 522520, 98683 Malformation syndrome 262643 Partial duplication/triplication of chromosome 9 syndrome 98132 Category 262767 Partial duplication/triplication of the short arm of chromosome 9 syndrome 262643 Category 236 Trisomy 9p syndrome 262767, 519286, 522568, 98642 Malformation syndrome 3310 Tetrasomy 9p syndrome 262767 Malformation syndrome 262905 Partial duplication of the long arm of chromosome 9 syndrome 262643 Category 96101 Distal duplication 9q syndrome 262905 Malformation syndrome 96112 Non-distal duplication 9q syndrome 262905 Malformation syndrome 262648 Partial duplication of chromosome 10 syndrome 98132 Category 262776 Partial duplication of the short arm of chromosome 10 syndrome 262648 Category 171929 Trisomy 10p syndrome 262776 Malformation syndrome 262914 Partial duplication of the long arm of chromosome 10 syndrome 262648 Category 1695 Non-distal duplication 10q syndrome 262914, 98642 Malformation syndrome 1307 Distal limb deficiencies-micrognathia syndrome 102283, 262914, 611327 Malformation syndrome 96102 Distal duplication 10q syndrome 262914, 98642 Malformation syndrome 276422 10q22.3q23.3 microduplication syndrome 262914 Malformation syndrome 262653 Partial duplication of chromosome 11 syndrome 98132 Category 262785 Partial duplication of the short arm of chromosome 11 syndrome 262653 Category 262923 Partial duplication of the long arm of chromosome 11 syndrome 262653 Category 96103 Distal duplication 11q syndrome 262923 Malformation syndrome 289522 Microtriplication 11q24.1 syndrome 102283, 262923, 611327 Malformation syndrome 262658 Partial duplication/triplication of the short arm of chromosome 12 syndrome 98132 Category 1699 Trisomy 12p syndrome 262658 Malformation syndrome 262672 Partial duplication of chromosome 16 syndrome 98132 Category 262794 Partial duplication of the short arm of chromosome 16 syndrome 262672 Category 96078 16p13.3 microduplication syndrome 262794 Malformation syndrome 261204 16p11.2p12.2 microduplication syndrome 262794 Malformation syndrome 261243 16p13.11 microduplication syndrome 262794 Malformation syndrome 370079 Proximal 16p11.2 microduplication syndrome 262794, 611314 Malformation syndrome 485405 16p12.1p12.3 triplication syndrome 102283, 262794, 611327 Malformation syndrome 262959 Partial duplication of the long arm of chromosome 16 syndrome 262672 Category 96106 Distal duplication 16q syndrome 262959 Malformation syndrome 262677 Partial duplication of chromosome 17 syndrome 98132 Category 262803 Partial duplication of the short arm of chromosome 17 syndrome 262677 Category 1713 17p11.2 microduplication syndrome 102283, 262803, 611327 Malformation syndrome 101081 Charcot-Marie-Tooth disease type 1A 262803, 65753 Disease 217385 17p13.3 microduplication syndrome 102283, 262803, 611327 Malformation syndrome 261290 Trisomy 17p syndrome 262803 Malformation syndrome 262968 Partial duplication of the long arm of chromosome 17 syndrome 262677 Category 3379 Distal duplication 17q syndrome 262968 Malformation syndrome 139474 17q11.2 microduplication syndrome 102283, 262968, 611327 Malformation syndrome 217340 17q21.31 microduplication syndrome 102283, 262968, 611327 Malformation syndrome 261272 17q12 microduplication syndrome 262968 Malformation syndrome 477817 PMP22-RAI1 contiguous gene duplication syndrome 102283, 140453, 262968, 611327 Malformation syndrome 262682 Partial duplication/triplication of chromosome 18 syndrome 98132 Category 262812 Partial duplication/triplication of the short arm of chromosome 18 syndrome 262682 Category 1715 Trisomy 18p syndrome 262812 Malformation syndrome 3307 Tetrasomy 18p syndrome 262812 Malformation syndrome 262977 Partial duplication of the long arm of chromosome 18 syndrome 262682 Category 1716 Distal duplication 18q syndrome 262977 Malformation syndrome 262687 Partial duplication of chromosome 19 syndrome 98132 Category 262986 Partial duplication of the long arm of chromosome 19 syndrome 262687 Category 1717 Distal duplication 19q syndrome 262986 Malformation syndrome 447985 Partial duplication of the short arm of chromosome 19 syndrome 262687 Category 447980 19p13.3 microduplication syndrome 102283, 447985, 611327 Malformation syndrome 262692 Partial duplication of chromosome 20 syndrome 98132 Category 261318 Trisomy 20p syndrome 262692 Malformation syndrome 262995 Partial duplication of the long arm of chromosome 20 syndrome 262692 Category 96107 Distal duplication 20q syndrome 262995 Malformation syndrome 363659 20q11.2 microduplication syndrome 102283, 262995, 611327 Malformation syndrome 262932 Partial duplication of the long arm of chromosome 13 syndrome 98132 Category 1702 Non-distal duplication 13q syndrome 262932 Malformation syndrome 96105 Distal duplication 13q syndrome 262932 Malformation syndrome 262941 Partial duplication of the long arm of chromosome 14 syndrome 98132 Category 261229 14q11.2 microduplication syndrome 262941 Malformation syndrome 488280 14q32 duplication syndrome 262941, 98274 Disease 262950 Partial duplication of the long arm of chromosome 15 syndrome 98132 Category 238446 15q11q13 microduplication syndrome 262950 Malformation syndrome 263004 Partial duplication of the long arm of chromosome 22 syndrome 98132 Category 1727 22q11.2 duplication syndrome 263004 Malformation syndrome 96109 Distal duplication 22q syndrome 263004 Malformation syndrome 261337 Distal 22q11.2 microduplication syndrome 263004 Malformation syndrome 98152 Autosomal uniparental disomy syndrome 98127 Category 98153 Maternal uniparental disomy syndrome 98152 Category 96179 Maternal uniparental disomy of chromosome 2 syndrome 98153 Malformation syndrome 96180 Maternal uniparental disomy of chromosome 4 syndrome 98153 Malformation syndrome 96181 Maternal uniparental disomy of chromosome 6 syndrome 98153 Malformation syndrome 96183 Maternal uniparental disomy of chromosome 9 syndrome 98153 Malformation syndrome 96186 Maternal uniparental disomy of chromosome 20 syndrome 98153 Malformation syndrome 96187 Maternal uniparental disomy of chromosome 21 syndrome 98153 Malformation syndrome 96188 Maternal uniparental disomy of chromosome 22 syndrome 98153 Malformation syndrome 97678 Maternal uniparental disomy of chromosome 13 syndrome 98153 Malformation syndrome 251009 Maternal uniparental disomy of chromosome 1 syndrome 98153 Malformation syndrome 98154 Paternal uniparental disomy syndrome 98152 Category 96190 Paternal uniparental disomy of chromosome 5 syndrome 98154 Malformation syndrome 96191 Paternal uniparental disomy of chromosome 6 syndrome 98154 Malformation syndrome 96192 Paternal uniparental disomy of chromosome 7 syndrome 98154 Malformation syndrome 96194 Paternal uniparental disomy of chromosome 20 syndrome 98154 Malformation syndrome 96195 Paternal uniparental disomy of chromosome 21 syndrome 98154 Malformation syndrome 96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 254519, 98154 Etiological subtype 98795 Angelman syndrome due to paternal uniparental disomy of chromosome 15 72, 98154 Etiological subtype 99324 Paternal uniparental disomy of chromosome 13 syndrome 98154 Malformation syndrome 251004 Paternal uniparental disomy of chromosome 1 syndrome 98154 Malformation syndrome 329813 Mosaic genome-wide paternal uniparental disomy syndrome 98152 Malformation syndrome 102020 Autosomal monosomy syndrome 98127 Category 98141 Total autosomal monosomy syndrome 102020 Category 96123 Monosomy 22 syndrome 98141 Malformation syndrome 98142 Partial autosomal deletion syndrome 102020 Category 261766 Partial deletion of chromosome 1 syndrome 98142 Category 261857 Partial deletion of the short arm of chromosome 1 syndrome 261766 Category 293948 1p21.3 microdeletion syndrome 180772, 261857, 611314 Malformation syndrome 401986 1p31p32 microdeletion syndrome 102283, 261857, 611327 Malformation syndrome 262001 Partial deletion of the long arm of chromosome 1 syndrome 261766 Category 36367 Distal deletion 1q syndrome 102283, 262001, 611327 Malformation syndrome 238769 1q44 microdeletion syndrome 262001 Malformation syndrome 250989 1q21.1 microdeletion syndrome 262001 Malformation syndrome 250999 1q41q42 microdeletion syndrome 262001 Malformation syndrome 261771 Partial deletion of chromosome 2 syndrome 98142 Category 261866 Partial deletion of the short arm of chromosome 2 syndrome 261771 Category 261349 2p15p16.1 microdeletion syndrome 261866 Malformation syndrome 363680 2p13.2 microdeletion syndrome 102283, 261866, 611327 Malformation syndrome 369886 Homozygous 2p21 microdeletion syndrome 261866 Clinical group 238517 Hypotonia-cystinuria type 1 syndrome 183592, 369886, 506213, 79166, 93603 Clinical group 163690 Hypotonia-cystinuria syndrome 238517 Disease 163693 2p21 microdeletion syndrome 238517 Disease 238523 Atypical hypotonia-cystinuria syndrome 238517 Disease 369881 2p21 microdeletion syndrome without cystinuria 369886 Malformation syndrome 262010 Partial deletion of the long arm of chromosome 2 syndrome 261771 Category 228402 2q23.1 microdeletion syndrome 102283, 166469, 262010, 611327 Malformation syndrome 251014 2q31.1 microdeletion syndrome 262010 Malformation syndrome 251019 2q32q33 deletion syndrome 102283, 262010, 611327 Malformation syndrome 261776 Partial deletion of chromosome 3 syndrome 98142 Category 261875 Partial deletion of the short arm of chromosome 3 syndrome 261776 Category 435638 3p25.3 microdeletion syndrome 261875, 611314 Malformation syndrome 262019 Partial deletion of the long arm of chromosome 3 syndrome 261776 Category 1621 3q13 microdeletion syndrome 262019 Malformation syndrome 65286 3q29 microdeletion syndrome 262019 Malformation syndrome 695611 3q26q28 deletion syndrome 102283, 262019, 611327 Malformation syndrome 261781 Partial deletion of chromosome 4 syndrome 98142 Category 261884 Partial deletion of the short arm of chromosome 4 syndrome 261781 Category 262029 Partial deletion of the long arm of chromosome 4 syndrome 261781 Category 96145 Distal deletion 4q syndrome 262029 Malformation syndrome 238750 4q21 microdeletion syndrome 262029 Malformation syndrome 502437 4q25 proximal deletion syndrome 102283, 262029, 611327 Malformation syndrome 261786 Partial deletion of chromosome 5 syndrome 98142 Category 261893 Partial deletion of the short arm of chromosome 5 syndrome 261786 Category 262038 Partial deletion of the long arm of chromosome 5 syndrome 261786 Category 1627 Deletion 5q35 syndrome 262038 Malformation syndrome 261584 5q22 microdeletion syndrome 102283, 104010, 262038, 611327 Disease 314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion 262038, 438213 Etiological subtype 261791 Partial deletion of chromosome 6 syndrome 98142 Category 261902 Partial deletion of the short arm of chromosome 6 syndrome 261791 Category 251046 6p22 microdeletion syndrome 261902 Malformation syndrome 262047 Partial deletion of the long arm of chromosome 6 syndrome 261791 Category 251056 6q25.2q25.3 microdeletion syndrome 262047 Malformation syndrome 261796 Partial deletion of chromosome 7 syndrome 98142 Category 261911 Partial deletion of the short arm of chromosome 7 syndrome 261796 Category 96126 Distal deletion 7p syndrome 261911 Malformation syndrome 262056 Partial deletion of the long arm of chromosome 7 syndrome 261796 Category 1636 Distal monosomy 7q36 syndrome 262056 Malformation syndrome 251061 7q31 microdeletion syndrome 262056 Malformation syndrome 254351 Distal 7q11.23 microdeletion syndrome 262056 Malformation syndrome 261801 Partial deletion of chromosome 8 syndrome 98142 Category 261920 Partial deletion of the short arm of chromosome 8 syndrome 261801 Category 251066 8p11.2 deletion syndrome 261920 Malformation syndrome 251071 8p23.1 microdeletion syndrome 165707, 261920 Malformation syndrome 262065 Partial deletion of the long arm of chromosome 8 syndrome 261801 Category 178303 8q22.1 microdeletion syndrome 102285, 262065, 330206 Malformation syndrome 284160 8q21.11 microdeletion syndrome 102283, 262065, 611327 Malformation syndrome 261806 Partial deletion of chromosome 9 syndrome 98142 Category 261929 Partial deletion of the short arm of chromosome 9 syndrome 261806 Category 1642 Distal deletion 9p syndrome 261929, 325638, 98087 Malformation syndrome 261112 Monosomy 9p syndrome 261929 Malformation syndrome 324313 9p13 microdeletion syndrome 102283, 261929, 611327 Malformation syndrome 262074 Partial deletion of the long arm of chromosome 9 syndrome 261806 Category 77301 Monosomy 9q22.3 syndrome 262074, 522520, 98683 Malformation syndrome 96147 Kleefstra syndrome due to 9q34 microdeletion 166469, 261494, 262074 Etiological subtype 401923 9q31.1q31.3 microdeletion syndrome 102283, 262074, 611327 Malformation syndrome 495818 9q33.3q34.11 microdeletion syndrome 102283, 166469, 262074, 611327, 79370 Malformation syndrome 531151 9q21.13 microdeletion syndrome 262074, 611314 Malformation syndrome 261811 Partial deletion of chromosome 10 syndrome 98142 Category 261938 Partial deletion of the short arm of chromosome 10 syndrome 261811 Category 1580 Distal deletion 10p syndrome 261938 Clinical group 687695 10p13-p14 deletion syndrome 102283, 1580, 331220, 611327 Malformation syndrome 687424 ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion 1580, 694304 Etiological subtype 284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion 261938, 466943 Clinical subtype 262083 Partial deletion of the long arm of chromosome 10 syndrome 261811 Category 79076 Juvenile polyposis of infancy 262083, 2929 Clinical subtype 1581 Non-distal deletion 10q syndrome 262083, 522520, 98683 Malformation syndrome 96148 Distal deletion 10q syndrome 262083 Malformation syndrome 276413 10q22.3q23.3 microdeletion syndrome 262083 Malformation syndrome 261816 Partial deletion of chromosome 11 syndrome 98142 Category 261947 Partial deletion of the short arm of chromosome 11 syndrome 261816 Category 52022 Potocki-Shaffer syndrome 102283, 261947, 611327 Malformation syndrome 262092 Partial deletion of the long arm of chromosome 11 syndrome 261816 Category 851 Paris-Trousseau thrombocytopenia 262092, 98455 Disease 444002 11q22.2q22.3 microdeletion syndrome 102283, 262092, 611327 Malformation syndrome 261826 Partial deletion of chromosome 16 syndrome 98142 Category 261956 Partial deletion of the short arm of chromosome 16 syndrome 261826 Category 88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis 156162, 261956, 506213, 93587 Disease 98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16 232288, 261956, 611314 Malformation syndrome 261197 Proximal 16p11.2 microdeletion syndrome 261956 Malformation syndrome 261211 16p11.2p12.2 microdeletion syndrome 261956 Malformation syndrome 261236 16p13.11 microdeletion syndrome 261956 Malformation syndrome 500055 Hao-Fountain syndrome due to 16p13.2 microdeletion 261956, 643549 Etiological subtype 262128 Partial deletion of the long arm of chromosome 16 syndrome 261826 Category 658540 16q22 deletion syndrome 102283, 262128, 611327 Malformation syndrome 261250 16q24.3 microdeletion syndrome 262128 Malformation syndrome 352629 16q24.1 microdeletion syndrome 262128, 264683, 264992 Disease 261831 Partial deletion of chromosome 17 syndrome 98142 Category 261965 Partial deletion of the short arm of chromosome 17 syndrome 261831 Category 640 Hereditary neuropathy with liability to pressure palsies 140453, 261965 Malformation syndrome 261257 Distal 17p13.3 microdeletion syndrome 261965 Malformation syndrome 319171 Distal 17p13.1 microdeletion syndrome 102283, 261965, 611327 Malformation syndrome 262137 Partial deletion of the long arm of chromosome 17 syndrome 261831 Category 529962 17q24.2 microdeletion syndrome 102283, 262137, 611327 Malformation syndrome 1597 Distal deletion 17q syndrome 262137 Malformation syndrome 261265 17q12 microdeletion syndrome 262137 Malformation syndrome 261279 17q23.1q23.2 microdeletion syndrome 262137 Malformation syndrome 261836 Partial deletion of chromosome 18 syndrome 98142 Category 261974 Partial deletion of the short arm of chromosome 18 syndrome 261836 Category 1598 Monosomy 18p syndrome 261974, 98642 Disease 262146 Partial deletion of the long arm of chromosome 18 syndrome 261836 Category 261841 Partial deletion of chromosome 19 syndrome 98142 Category 261983 Partial deletion of the short arm of chromosome 19 syndrome 261841 Category 96129 Distal deletion 19p syndrome 261983 Malformation syndrome 254346 19p13.12 microdeletion syndrome 261983 Malformation syndrome 357001 19p13.13 microdeletion syndrome 102283, 261983, 611327 Malformation syndrome 262155 Partial deletion of the long arm of chromosome 19 syndrome 261841 Category 217346 19q13.11 microdeletion syndrome 102283, 262155, 611327 Malformation syndrome 261846 Partial deletion of chromosome 20 syndrome 98142 Category 261992 Partial deletion of the short arm of chromosome 20 syndrome 261846 Category 261295 20p12.3 microdeletion syndrome 261992 Malformation syndrome 313781 20p13 microdeletion syndrome 102283, 261992, 611327 Malformation syndrome 262164 Partial deletion of the long arm of chromosome 20 syndrome 261846 Category 261304 Paternal 20q13.2q13.3 microdeletion syndrome 262164 Malformation syndrome 261311 20q13.33 microdeletion syndrome 262164 Malformation syndrome 444051 20q11.2 microdeletion syndrome 102283, 262164, 611327 Malformation syndrome 262101 Partial deletion of the long arm of chromosome 13 syndrome 98142 Category 96168 Monosomy 13q34 syndrome 262101, 98642 Malformation syndrome 412035 13q12.3 microdeletion syndrome 102283, 262101, 611327, 79359 Malformation syndrome 262110 Partial deletion of the long arm of chromosome 14 syndrome 98142 Category 96150 Distal deletion 14q syndrome 262110 Malformation syndrome 254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion 254519, 262110 Etiological subtype 261120 14q11.2 microdeletion syndrome 262110 Malformation syndrome 261144 FOXG1 syndrome due to 14q12 microdeletion 262110, 561854 Clinical subtype 264200 14q22q23 microdeletion syndrome 102285, 262110, 330206 Malformation syndrome 401935 14q24.1q24.3 microdeletion syndrome 102283, 262110, 611327 Malformation syndrome 262119 Partial deletion of the long arm of chromosome 15 syndrome 98142 Category 1596 Distal deletion 15q syndrome 262119 Malformation syndrome 94064 Deafness-infertility syndrome 262119, 399813, 90642 Malformation syndrome 94065 15q24 microdeletion syndrome 262119, 500163 Etiological subtype 98794 Angelman syndrome due to maternal 15q11q13 deletion 262119, 72 Etiological subtype 199318 15q13.3 microdeletion syndrome 102283, 166469, 262119, 611327, 98033 Malformation syndrome 261183 15q11.2 microdeletion syndrome 262119 Malformation syndrome 261190 Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion 262119, 652519 Clinical subtype 262173 Partial deletion of the long arm of chromosome 21 syndrome 98142 Category 574 21q deletion syndrome 262173, 98642 Malformation syndrome 268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion 262173, 464306 Etiological subtype 262182 Partial deletion of the long arm of chromosome 22 syndrome 98142 Category 662169 Phelan-McDermid syndrome due to 22q13.3 deletion 262182, 48652 Etiological subtype 261330 Distal 22q11.2 microdeletion syndrome 262182 Malformation syndrome 282124 Partial deletion of chromosome 12 syndrome 98142 Category 261821 Partial deletion of the long arm of chromosome 12 syndrome 282124 Category 96149 Distal deletion 12q syndrome 261821 Malformation syndrome 96160 Non-distal deletion 12q syndrome 261821 Malformation syndrome 289513 12q15q21 microdeletion syndrome 261821, 697760 Etiological subtype 316244 Partial deletion of the short arm of chromosome 12 syndrome 282124 Category 280325 Distal deletion 12p syndrome 316244 Malformation syndrome 313884 12p12.1 microdeletion syndrome 316244, 530983 Clinical subtype 263708 Complex chromosomal rearrangement syndrome 98127 Category 3306 Inverted duplicated chromosome 15 syndrome 166469, 180772, 263708 Malformation syndrome 96092 8p inverted duplication/deletion syndrome 263708 Malformation syndrome 96167 Recombinant 8 syndrome 263708 Malformation syndrome 98155 Sex-chromosome anomaly syndrome 68335 Category 98156 Sex-chromosome number anomaly syndrome 98155 Category 263714 X chromosome number anomaly syndrome 98156 Category 263717 X chromosome number anomaly with female phenotype syndrome 263714 Category 263723 Polysomy of X chromosome syndrome 263717 Category 11 Pentasomy X syndrome 263723 Malformation syndrome 9 Tetrasomy X syndrome 263723, 399853, 400022, 485382, 95710 Malformation syndrome 3375 Trisomy X syndrome 263723, 399853, 400022, 485382, 95710 Malformation syndrome 263720 X chromosome number anomaly with male phenotype syndrome 263714 Category 96263 48,XXXY syndrome 102283, 165707, 263720, 325546, 611327, 98313 Malformation syndrome 96264 49,XXXXY syndrome 102283, 165707, 263720, 325546, 611327, 98313 Malformation syndrome 263746 Y chromosome number anomaly syndrome 98156 Category 8 47,XYY syndrome 263746 Malformation syndrome 1772 45,X/46,XY mixed gonadal dysgenesis 263746, 325546, 98074, 98313 Malformation syndrome 99329 48,XYYY syndrome 102283, 165707, 263746, 611327, 98313 Malformation syndrome 99330 49,XYYYY syndrome 102285, 263746, 330206 Malformation syndrome 263749 X and Y chromosomal anomaly syndrome 98156 Category 10 48,XXYY syndrome 102283, 165707, 263749, 325546, 611327 Malformation syndrome 199310 Tetragametic chimerism syndrome 263749, 325546, 325638 Malformation syndrome 261534 49,XXXYY syndrome 263749 Malformation syndrome 98157 Sex-chromosome structural anomaly syndrome 98155 Category 98158 Chromosome Y structural anomaly syndrome 98157 Category 1646 Chromosome Y microdeletion syndrome 399775, 98158 Malformation syndrome 96325 Isochromosome Y syndrome 98158 Category 98797 Isochromosomy Yp syndrome 96325 Malformation syndrome 98798 Isochromosomy Yq syndrome 96325 Malformation syndrome 261529 Ring chromosome Y syndrome 98158 Malformation syndrome 98159 Chromosome X structural anomaly syndrome 98157 Category 96201 X small rings syndrome 399853, 400022, 485382, 95710, 98159 Malformation syndrome 263726 Partial deletion of chromosome X syndrome 98159 Category 263731 Partial deletion of the short arm of the chromosome X syndrome 263726 Category 1643 Xp22.3 microdeletion syndrome 263731 Malformation syndrome 85332 X-linked intellectual disability-retinitis pigmentosa syndrome 263731, 611314, 716405 Disease 261476 Xp21 deletion syndrome 263731, 308993, 595337 Disease 261501 Atypical Norrie disease due to Xp11.3 microdeletion 263731 Malformation syndrome 263756 Partial deletion of the long arm of chromosome X syndrome 263726 Category 86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome 102283, 182043, 263756, 567554, 611327 Disease 456328 X-linked myotubular myopathy-abnormal genitalia syndrome 207110, 263756, 595, 611314, 98087 Disease 263768 Partial duplication of chromosome X syndrome 98159 Category 263775 Partial duplication of the short arm of chromosome X syndrome 263768 Category 217377 Microduplication Xp11.22p11.23 syndrome 102283, 166469, 263775, 611327 Malformation syndrome 284180 Xp22.13p22.2 duplication syndrome 102283, 263775, 611327 Malformation syndrome 263783 Partial duplication of the long arm of chromosome X syndrome 263768 Category 521258 Xq25 microduplication syndrome 102283, 263783, 611327 Malformation syndrome 1762 Proximal Xq28 duplication syndrome 102283, 263783, 611327 Malformation syndrome 261483 Xq27.3q28 duplication syndrome 263783 Malformation syndrome 293939 Distal Xq28 microduplication syndrome 263783, 611314 Malformation syndrome 314389 Xq12-q13.3 duplication syndrome 180772, 263783 Malformation syndrome 263793 Uniparental disomy of chromosome X syndrome 98159 Category 261519 Maternal uniparental disomy of chromosome X syndrome 263793 Malformation syndrome 261524 Paternal uniparental disomy of chromosome X syndrome 263793 Malformation syndrome 68341 Multiple congenital anomalies/dysmorphic syndrome 93890 Category 459787 Lethal multiple congenital anomalies/dysmorphic syndrome 68341 Category 633099 PAICS deficiency 459787, 471383, 79191 Malformation syndrome 1780 Thakker-Donnai syndrome 459787, 471383 Malformation syndrome 1895 Edinburgh malformation syndrome 459787, 471383 Malformation syndrome 1681 Diprosopus 459787 Morphological anomaly 210144 Lethal polymalformative syndrome, Boissel type 459787, 471383 Malformation syndrome 33108 Lethal multiple pterygium syndrome 294060, 459787, 471383 Malformation syndrome 2077 German syndrome 109007, 2416, 459787, 471383 Malformation syndrome 102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability 102369, 68341 Category 464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome 100981, 102283, 166472, 611327 Disease 496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome 102283, 166472, 182070, 183500, 441434, 611327 Malformation syndrome 72 Angelman syndrome 102283, 166469, 611327, 641343, 98033 Malformation syndrome 411515 Angelman syndrome due to imprinting defect in 15q11-q13 72 Etiological subtype 411511 Angelman syndrome due to a point mutation 72 Etiological subtype 280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome 102283, 181441, 477771, 611327 Disease 88618 S-adenosylhomocysteine hydrolase deficiency 102283, 611327, 79173 Disease 85285 X-linked intellectual disability, Schimke type 102283, 611327 Malformation syndrome 85288 X-linked intellectual disability, Stocco Dos Santos type 102283, 611327 Malformation syndrome 85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome 102283, 611327 Malformation syndrome 85323 X-linked intellectual disability, Seemanova type 102283, 611327 Disease 85324 X-linked intellectual disability, Shrimpton type 102283, 611327 Malformation syndrome 85297 X-linked spinocerebellar ataxia type 3 102283, 247765, 611327 Malformation syndrome 85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome 102283, 611327 Disease 163956 X-linked intellectual disability, Nascimento type 102283, 611327 Disease 163971 X-linked intellectual disability, Cilliers type 102283, 181441, 611327 Disease 163976 X-linked intellectual disability, Van Esch type 102283, 181441, 611327 Malformation syndrome 163979 X-linked intellectual disability-craniofacioskeletal syndrome 102283, 611327 Disease 363528 Intellectual disability-strabismus syndrome 102283, 522520, 611327, 98683 Disease 369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome 102283, 370106, 611327, 90642 Malformation syndrome 391372 FOXP1 Syndrome 102283, 611327 Malformation syndrome 435628 Keppen-Lubinsky syndrome 102283, 611327, 98305, 98746 Malformation syndrome 397951 Microcephaly-thin corpus callosum-intellectual disability syndrome 102283, 611327 Disease 404448 Helsmoortel-Van der Aa syndrome 102283, 611327 Malformation syndrome 404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome 102283, 611327 Malformation syndrome 404473 Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome 102283, 611327, 716446 Malformation syndrome 411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome 102283, 166472, 519343, 522508, 611327 Malformation syndrome 420561 Temple-Baraitser syndrome 102283, 611327, 79370 Disease 435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome 102283, 611327 Malformation syndrome 436141 HIDEA syndrome 102283, 522520, 611327, 98683 Malformation syndrome 438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome 102283, 611327 Disease 438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation 438213 Etiological subtype 439822 PDE4D haploinsufficiency syndrome 102283, 611327 Malformation syndrome 1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome 102283, 522520, 611327, 98683 Malformation syndrome 52503 X-linked creatine transporter deficiency 102283, 611327, 68385, 79172 Disease 73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome 102283, 522520, 611327, 98683 Malformation syndrome 83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome 102283, 183494, 229720, 611327, 79391 Malformation syndrome 85273 X-linked intellectual disability, Abidi type 102283, 611327 Malformation syndrome 85274 Syndromic X-linked intellectual disability 7 102283, 611327 Malformation syndrome 85276 X-linked intellectual disability, Armfield type 102283, 522548, 611327, 98641 Malformation syndrome 85278 Christianson syndrome 102283, 166478, 247765, 522520, 611327, 98683 Malformation syndrome 85279 KDM5C-related syndromic X-linked intellectual disability 102283, 166472, 611327 Malformation syndrome 85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome 102283, 611327 Malformation syndrome 85284 BRESEK syndrome 102283, 611327 Malformation syndrome 85286 X-linked intellectual disability, Shashi type 102283, 611327 Malformation syndrome 85287 X-linked intellectual disability, Siderius type 102283, 611327 Malformation syndrome 85293 X-linked intellectual disability, Cabezas type 102283, 611327 Malformation syndrome 85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome 102283, 611327 Malformation syndrome 85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome 102283, 611327 Malformation syndrome 85321 Deafness-intellectual disability syndrome, Martin-Probst type 102283, 522548, 611327, 90642, 98641 Malformation syndrome 85322 X-linked intellectual disability, Pai type 102283, 611327 Malformation syndrome 85325 X-linked intellectual disability, Stevenson type 102283, 611327 Malformation syndrome 85326 X-linked intellectual disability, Stoll type 102283, 611327 Malformation syndrome 85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome 102283, 611327 Malformation syndrome 85335 Fried syndrome 102283, 611327 Malformation syndrome 94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia 102283, 611327 Malformation syndrome 217017 Zechi-Ceide syndrome 102283, 611327 Malformation syndrome 221120 Pseudoaminopterin syndrome 102283, 611327 Malformation syndrome 228426 Syndromic multisystem autoimmune disease due to Itch deficiency 101944, 102283, 156610, 169355, 182228, 522043, 611327 Disease 254519 Kagami-Ogata syndrome 102283, 611327, 641343 Malformation syndrome 254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation 254519 Etiological subtype 261494 Kleefstra syndrome 102283, 611327 Malformation syndrome 261652 Kleefstra syndrome due to a point mutation 261494 Etiological subtype 314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome 102283, 611327 Malformation syndrome 314679 Cerebrofacioarticular syndrome 102283, 611327 Malformation syndrome 319182 Wiedemann-Steiner syndrome 102283, 611327 Malformation syndrome 324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome 102283, 611327 Malformation syndrome 324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome 102283, 611327 Malformation syndrome 329224 Schuurs-Hoeijmakers syndrome 102283, 611327 Malformation syndrome 352490 Autism spectrum disorder due to AUTS2 deficiency 102283, 180772, 611327 Disease 352577 Bainbridge-Ropers syndrome 102283, 611327 Disease 357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome 102283, 611327 Malformation syndrome 363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome 102283, 611327 Malformation syndrome 363611 CTCF-related neurodevelopmental disorder 102283, 611327 Disease 363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome 102283, 611327 Disease 364028 X-linked intellectual disability due to GRIA3 mutations 102283, 611327 Disease 370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome 102283, 611327 Malformation syndrome 370927 SSR4-CDG 102283, 309347, 371071, 611327 Disease 371364 Hypotonia-speech impairment-severe cognitive delay syndrome 102283, 182070, 183500, 611327, 98738 Disease 700333 Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency 371364 Clinical subtype 700336 Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency 371364 Clinical subtype 391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome 102283, 611327 Malformation syndrome 397612 Macrocephaly-developmental delay syndrome 102283, 611327 Malformation syndrome 48652 Phelan-McDermid syndrome 102283, 568047, 611327 Malformation syndrome 662172 Phelan-McDermid syndrome due to SHANK3 mutation 48652 Etiological subtype 50810 Microlissencephaly-micromelia syndrome 102283, 166478, 611327 Malformation syndrome 50815 Branchiogenic deafness syndrome 102283, 522520, 611327, 90642, 98683 Malformation syndrome 436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome 102283, 611327, 716405 Disease 99812 LIG4 syndrome 102283, 183422, 480549, 611327 Disease 289553 Dysmorphism-conductive hearing loss-heart defect syndrome 102283, 611327, 90642 Malformation syndrome 83472 CAMOS syndrome 102283, 441434, 611327, 98095 Malformation syndrome 79156 Seizures-intellectual disability due to hydroxylysinuria syndrome 102283, 289832, 611327, 68385 Disease 2058 Fryns-Smeets-Thiry syndrome 102283, 611327 Malformation syndrome 3078 Severe X-linked intellectual disability, Gustavson type 102283, 441434, 611327 Malformation syndrome 1514 Craniodigital-intellectual disability syndrome 102283, 611327 Malformation syndrome 1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome 102283, 522520, 611327, 98683 Malformation syndrome 1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome 102283, 611327 Malformation syndrome 2824 Paraplegia-intellectual disability-hyperkeratosis syndrome 102283, 611327 Malformation syndrome 2083 Prominent glabella-microcephaly-hypogenitalism syndrome 102283, 611327 Malformation syndrome 2107 Hall-Riggs syndrome 102283, 611327 Malformation syndrome 2115 Harrod syndrome 102283, 522548, 611327, 98641 Malformation syndrome 2136 Hennekam syndrome 102283, 331217, 568044, 611327 Malformation syndrome 2139 Hernández-Aguirre Negrete syndrome 102283, 611327 Malformation syndrome 2166 Holoprosencephaly-postaxial polydactyly syndrome 102283, 611327 Malformation syndrome 2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome 102283, 611327 Malformation syndrome 1051 Ramos-Arroyo syndrome 102283, 611327, 716405, 90642 Malformation syndrome 2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome 102283, 181441, 611327 Malformation syndrome 2261 Hypospadias-intellectual disability, Goldblatt type syndrome 102283, 165707, 611327 Malformation syndrome 2282 Dysmorphism-short stature-deafness-difference of sex development syndrome 102283, 325638, 611327, 98087 Malformation syndrome 2323 Sanjad-Sakati syndrome 102283, 181402, 611327 Malformation syndrome 2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome 102283, 320346, 611327 Malformation syndrome 2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome 102283, 611327 Malformation syndrome 2471 McDonough syndrome 102283, 522520, 611327, 98683 Malformation syndrome 2489 Upper limb defect-eye and ear abnormalities syndrome 102283, 522548, 611327, 98641 Malformation syndrome 2533 Microcephaly-deafness-intellectual disability syndrome 102283, 611327, 90642 Malformation syndrome 2608 N syndrome 102283, 183422, 611327, 90642 Malformation syndrome 2617 Microcephalic primordial dwarfism, Montreal type 102283, 611327 Malformation syndrome 2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome 102283, 519347, 522522, 611327 Malformation syndrome 2865 Short stature-webbed neck-heart disease syndrome 102283, 611327 Malformation syndrome 2871 Pfeiffer-Palm-Teller syndrome 102283, 611327 Malformation syndrome 2921 Preaxial polydactyly-colobomata-intellectual disability syndrome 102283, 611327 Malformation syndrome 2988 Pterygium colli-intellectual disability-digital anomalies syndrome 102283, 611327 Malformation syndrome 3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome 102283, 522520, 611327, 98683 Malformation syndrome 3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome 102283, 181371, 181441, 183625, 611327 Malformation syndrome 3079 Intellectual disability, Buenos-Aires type 102283, 611327 Malformation syndrome 3080 Intellectual disability, Wolff type 102283, 611327 Malformation syndrome 3121 Ruvalcaba syndrome 102283, 611327 Malformation syndrome 3132 Say-Barber-Miller syndrome 101977, 102283, 611327 Malformation syndrome 3199 Stimmler syndrome 102283, 611327 Malformation syndrome 3219 Fountain syndrome 102283, 611327, 90642 Malformation syndrome 3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome 102283, 165707, 611327, 90642 Malformation syndrome 3242 Renpenning syndrome 102283, 611327 Malformation syndrome 93945 X-linked intellectual disability, Porteous type 3242 Clinical subtype 93946 Hamel cerebro-palato-cardiac syndrome 3242 Clinical subtype 93947 X-linked intellectual disability, Golabi-Ito-Hall type 3242 Clinical subtype 93950 X-linked intellectual disability, Sutherland-Haan type 3242 Clinical subtype 3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome 102283, 522520, 611327, 98683 Malformation syndrome 3304 Fallot complex-intellectual disability-growth delay syndrome 102283, 611327 Malformation syndrome 3409 Urban-Rogers-Meyer syndrome 102283, 611327 Malformation syndrome 1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome 102283, 611327 Malformation syndrome 1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome 102283, 611327 Malformation syndrome 3074 Intellectual disability-short stature-hypertelorism syndrome 102283, 611327 Malformation syndrome 3051 Nicolaides-Baraitser syndrome 102283, 611327 Malformation syndrome 1272 Aymé-Gripp syndrome 102283, 522548, 611327, 98641 Malformation syndrome 1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome 102283, 522520, 611327, 98683 Malformation syndrome 1383 Cataract-deafness-hypogonadism syndrome 102283, 522548, 611327, 90642, 98641 Malformation syndrome 1123 Caudal appendage-deafness syndrome 102283, 611327, 90642 Malformation syndrome 3082 Intellectual disability-polydactyly-uncombable hair syndrome 102283, 611327 Malformation syndrome 3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome 102283, 281244, 522520, 611327, 98683 Malformation syndrome 505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome 102283, 166472, 611327 Malformation syndrome 544503 RNF13-related severe early-onset epileptic encephalopathy 102283, 166472, 611327, 90642 Disease 529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome 102283, 611327 Malformation syndrome 506358 Gabriele-de Vries syndrome 102283, 611327 Malformation syndrome 562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome 102283, 611327, 97120, 98738 Malformation syndrome 500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome 102283, 166472, 611327 Disease 500163 Witteveen-Kolk syndrome 102283, 611327 Malformation syndrome 500166 SIN3-related intellectual disability syndrome due to a point mutation 500163 Etiological subtype 457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome 102283, 611327 Malformation syndrome 457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome 102283, 611327 Malformation syndrome 1239 Behr syndrome 102283, 207025, 522548, 611327, 98641 Malformation syndrome 1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome 102283, 183518, 611327 Malformation syndrome 2896 Pitt-Hopkins syndrome 102283, 166472, 611327 Malformation syndrome 502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome 102283, 611327 Malformation syndrome 476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome 102283, 611327 Malformation syndrome 480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome 102283, 611327 Malformation syndrome 464306 DYRK1A-related intellectual disability syndrome 102283, 611327 Malformation syndrome 464311 Intellectual disability syndrome due to a DYRK1A point mutation 464306 Etiological subtype 464738 Basel-Vanagaite-Smirin-Yosef syndrome 102283, 522548, 611327, 98641 Malformation syndrome 2479 Megalocornea-intellectual disability syndrome 102283, 519288, 522558, 611327 Malformation syndrome 847 X-linked alpha-thalassemia-intellectual disability syndrome 102283, 232288, 325638, 611327, 98087 Malformation syndrome 2377 Laurence-Moon syndrome 102283, 156183, 181387, 611327, 716342 Malformation syndrome 776 Lujan-Fryns syndrome 102283, 611327 Malformation syndrome 1948 Epilepsy-microcephaly-skeletal dysplasia syndrome 102283, 611327 Malformation syndrome 1951 Epilepsy-telangiectasia syndrome 102283, 166472, 611327 Disease 990 Agnathia-holoprosencephaly-situs inversus syndrome 102283, 611327 Malformation syndrome 1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome 102283, 611327 Malformation syndrome 1193 Atkin-Flaitz syndrome 102283, 611327 Malformation syndrome 1261 Bonnemann-Meinecke-Reich syndrome 102283, 611327 Malformation syndrome 1299 Branchioskeletogenital syndrome 102283, 165707, 611327 Malformation syndrome 1355 Congenital heart defect-round face-developmental delay syndrome 102283, 611327 Malformation syndrome 1387 Cataract-intellectual disability-hypogonadism syndrome 102283, 181387, 522548, 611327, 98641 Malformation syndrome 1389 Cortical blindness-intellectual disability-polydactyly syndrome 102283, 519343, 522508, 611327 Malformation syndrome 1184 Ataxia-photosensitivity-short stature syndrome 102283, 183518, 611327 Malformation syndrome 466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome 102283, 611327 Malformation syndrome 466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation 466943 Clinical subtype 468678 White-Sutton syndrome 102283, 611327 Disease 466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome 102283, 611327 Malformation syndrome 2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome 102283, 181441, 611327 Disease 642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation 102283, 611327 Malformation syndrome 521426 PLAA-associated neurodevelopmental disorder 102283, 441434, 611327 Malformation syndrome 488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome 102283, 183466, 611327, 79375 Malformation syndrome 488632 TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome 102283, 611327 Malformation syndrome 488642 TELO2-related intellectual disability-neurodevelopmental disorder 102283, 519343, 522508, 611327 Malformation syndrome 456312 Infantile multisystem neurologic-endocrine-pancreatic disease 101937, 102283, 140459, 165661, 177107, 611327, 90642 Disease 513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome 102283, 611327 Disease 494344 RERE-related neurodevelopmental syndrome 102283, 611327 Malformation syndrome 487796 Takenouchi-Kosaki syndrome 102283, 477794, 568047, 611327 Malformation syndrome 487825 Pierpont syndrome 102283, 611327 Malformation syndrome 3010 Qazi-Markouizos syndrome 102283, 522520, 611327, 97245, 98683 Disease 647 Nijmegen breakage syndrome 102283, 102285, 169346, 183422, 330206, 611327 Malformation syndrome 1488 Cooper-Jabs syndrome 102283, 611327 Malformation syndrome 599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome 102283, 611327 Malformation syndrome 1130 Arachnodactyly-intellectual disability-dysmorphism syndrome 102283, 611327 Malformation syndrome 1229 Pseudo-TORCH syndrome type 1 102283, 611327 Malformation syndrome 1399 Richards-Rundle syndrome 102283, 183518, 611327, 90642 Malformation syndrome 603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome 102283, 401993, 603699, 611327, 716405 Malformation syndrome 1947 Northern epilepsy 102283, 166472, 228354, 611327 Clinical subtype 3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome 102283, 156165, 522548, 611327, 90642, 98641 Malformation syndrome 2518 Autosomal recessive chorioretinopathy-microcephaly syndrome 102283, 611327, 716342 Malformation syndrome 1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome 102283, 481771, 611327, 79364 Disease 352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation 102283, 166472, 166478, 611327 Disease 2662 Keipert syndrome 102283, 102285, 330206, 611327 Malformation syndrome 2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome 101939, 102283, 156604, 611327, 93587 Malformation syndrome 2101 Grubben-de Cock-Borghgraef syndrome 102283, 519296, 611327 Malformation syndrome 73223 Global developmental delay-osteopenia-ectodermal defect syndrome 102283, 611327 Malformation syndrome 2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome 102283, 611327 Malformation syndrome 3063 X-linked intellectual disability, Snyder type 102283, 611327 Disease 530983 Lamb-Shaffer syndrome 102283, 611327 Disease 313892 Developmental and speech delay due to SOX5 deficiency 530983 Clinical subtype 544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome 102283, 289869, 611327, 68385 Disease 2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome 102283, 611327 Malformation syndrome 2306 Isotretinoin-like syndrome 102283, 611327 Malformation syndrome 603689 KLHL7-related Bohring-Opitz-like syndrome 102283, 603699, 611327 Malformation syndrome 2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome 102283, 611327 Malformation syndrome 600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome 102283, 611327 Disease 3052 X-linked intellectual disability-seizures-psoriasis syndrome 102283, 522520, 611327, 98683 Disease 457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome 102283, 182070, 183500, 441434, 611327, 91024 Disease 457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome 102283, 306712, 307061, 611327 Disease 2863 Short stature-wormian bones-dextrocardia syndrome 102283, 611327 Malformation syndrome 684216 Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome 102283, 166472, 611327, 90642 Malformation syndrome 684226 Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome 102283, 611327 Malformation syndrome 686482 BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome 102283, 611327 Malformation syndrome 686495 MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome 101956, 102283, 183643, 611327 Disease 685017 Combined immunodeficiency due to TBX1 deficiency 102283, 331220, 611327 Disease 689422 Okur-Chung neurodevelopmental syndrome 102283, 611327 Malformation syndrome 689397 Poirier-Bienvenu neurodevelopmental syndrome 102283, 166472, 611327 Malformation syndrome 689408 Shashi-Pena syndrome 102283, 611327 Malformation syndrome 692193 CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome 102283, 611327 Malformation syndrome 694304 ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome 102283, 611327 Disease 694308 ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation 694304 Etiological subtype 697760 Intellectual disability-nasal speech-craniofacial dysmorphism syndrome 102283, 611327 Malformation syndrome 697764 Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation 697760 Etiological subtype 697067 Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome 102283, 611327 Malformation syndrome 698085 Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome 102283, 611327 Malformation syndrome 698090 Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome 102283, 611327 Malformation syndrome 699835 Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome 102283, 611327 Malformation syndrome 700325 NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome 102283, 611327 Malformation syndrome 619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome 102283, 611327, 97992 Disease 659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome 102283, 611327, 90642 Malformation syndrome 662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome 102283, 611327 Malformation syndrome 675775 Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome 102283, 225707, 611327, 98274 Disease 675782 Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN 102283, 309340, 611327 Disease 664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome 102283, 611327 Malformation syndrome 662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome 102283, 331223, 611327 Disease 652519 Cleft palate-congenital heart defect-intellectual disability syndrome 102283, 611327 Disease 652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation 652519 Clinical subtype 653712 CHD4-related neurodevelopmental disorder 102283, 611327 Disease 653767 Jansen-de Vries syndrome 102283, 611327 Disease 656135 Intellectual disability-cupped ears syndrome 102283, 611327 Disease 658843 Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome 102283, 611327 Malformation syndrome 662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome 102283, 611327 Malformation syndrome 662234 Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome 102283, 611327 Malformation syndrome 2983 Difference of sex development-intellectual disability syndrome 102283, 325638, 611327, 98087 Disease 3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome 102283, 522548, 611327, 98641 Malformation syndrome 3177 Spinocerebellar degeneration-corneal dystrophy syndrome 102283, 183518, 611327, 98628 Malformation syndrome 2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome 102283, 611327, 79359, 79360 Malformation syndrome 3454 Wieacker-Wolff syndrome 102283, 1037, 206634, 611327 Malformation syndrome 2326 Kallmann syndrome-heart disease syndrome 102283, 181387, 611327 Malformation syndrome 2715 Severe oculo-renal-cerebellar syndrome 102283, 522520, 567562, 611327, 716459, 717348, 98683 Malformation syndrome 2135 Cutaneous mastocytosis-deafness-microtia syndrome 102283, 611327 Malformation syndrome 2557 Mietens syndrome 102283, 522520, 611327, 98628, 98683 Malformation syndrome 102285 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability 68341 Category 2412 Dislocation of the hip-dysmorphism syndrome 102285, 330206 Malformation syndrome 2437 Czeizel-Losonci syndrome 102285, 165707, 330206 Malformation syndrome 2473 McKusick-Kaufman syndrome 102285, 156162, 156183, 330206 Malformation syndrome 2491 Müllerian duct anomalies-limb anomalies syndrome 102285, 165707, 180148, 330206 Malformation syndrome 2513 Microcephaly-albinism-digital anomalies syndrome 102285, 330206 Malformation syndrome 2674 Cyprus facial-neuromusculoskeletal syndrome 102285, 206634, 330206, 522520, 522548, 98641, 98683 Malformation syndrome 2832 Short tarsus-absence of lower eyelashes syndrome 102285, 330206 Malformation syndrome 2868 Short stature-valvular heart disease-characteristic facies syndrome 102285, 330206 Malformation syndrome 2876 PHAVER syndrome 102285, 330206 Malformation syndrome 2934 Polysyndactyly-cardiac malformation syndrome 102285, 330206 Malformation syndrome 2964 Autosomal dominant prognathism 102285, 330206 Malformation syndrome 2990 Autosomal recessive multiple pterygium syndrome 102285, 294060, 330206 Malformation syndrome 3241 Deafness-craniofacial syndrome 102285, 330206, 90642 Malformation syndrome 3368 Trigonocephaly-bifid nose-acral anomalies syndrome 102285, 330206 Malformation syndrome 1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome 102285, 330206 Malformation syndrome 3439 Von Voss-Cherstvoy syndrome 102285, 330206 Malformation syndrome 50814 Craniolenticulosutural dysplasia 102285, 330206, 522548, 98641 Malformation syndrome 52047 Braddock syndrome 102285, 275853, 330206, 519296 Malformation syndrome 52429 Branchiootic syndrome 102285, 330206, 90642 Malformation syndrome 1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome 102285, 165707, 330206, 568047 Malformation syndrome 79107 Developmental malformations-deafness-dystonia syndrome 102285, 330206, 370106, 522548, 90642, 98641 Malformation syndrome 83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome 102285, 330206 Malformation syndrome 137776 Lethal congenital contracture syndrome type 2 102285, 294965, 330206 Malformation syndrome 137783 Lethal congenital contracture syndrome type 3 102285, 294965, 330206 Malformation syndrome 240760 Nijmegen breakage syndrome-like disorder 102285, 169346, 183422, 330206 Malformation syndrome 280558 Warsaw breakage syndrome 102285, 183422, 330206 Malformation syndrome 314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome 102285, 330206 Malformation syndrome 1146 Distal arthrogryposis type 1 102285, 330206, 97120, 98738 Malformation syndrome 2053 Freeman-Sheldon syndrome 102285, 330206, 97120, 98738 Malformation syndrome 958 Acro-renal-mandibular syndrome 102285, 330206 Malformation syndrome 959 Acro-renal-ocular syndrome 102285, 330206 Malformation syndrome 991 PAGOD syndrome 102285, 180148, 180779, 325109, 325638, 330206, 98087 Malformation syndrome 1094 Anonychia-microcephaly syndrome 102285, 330206 Malformation syndrome 1104 Anophthalmia plus syndrome 102285, 330206 Malformation syndrome 1237 Beemer-Ertbruggen syndrome 102285, 330206 Malformation syndrome 1327 Camptodactyly syndrome, Guadalajara type 1 102285, 330206 Malformation syndrome 1338 Heart defect-tongue hamartoma-polysyndactyly syndrome 102285, 330206 Malformation syndrome 1373 Cataract-aberrant oral frenula-growth delay syndrome 102285, 330206, 522548, 98641 Malformation syndrome 1390 Night blindness-skeletal anomalies-dysmorphism syndrome 102285, 330206 Malformation syndrome 1529 Craniofacial-deafness-hand syndrome 102285, 330206, 90642 Malformation syndrome 1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome 102285, 330206 Malformation syndrome 2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome 102285, 330206 Malformation syndrome 2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome 102285, 330206 Malformation syndrome 2091 Multinodular goiter-cystic kidney-polydactyly syndrome 102285, 330206 Malformation syndrome 2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome 102285, 330206 Malformation syndrome 2181 Hydrocephaly-tall stature-joint laxity syndrome 102285, 330206 Malformation syndrome 2211 Hypertelorism-hypospadias-polysyndactyly syndrome 102285, 165707, 330206 Malformation syndrome 2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome 102285, 165707, 330206 Malformation syndrome 2353 Schilbach-Rott syndrome 102285, 165707, 330206 Malformation syndrome 2104 Dysmorphism-pectus carinatum-joint laxity syndrome 102285, 330206 Malformation syndrome 2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome 102285, 330206, 79370 Malformation syndrome 1968 Flat face-microstomia-ear anomaly syndrome 102285, 330206 Malformation syndrome 1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome 102285, 330206 Malformation syndrome 688581 Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome 102285, 182043, 183592, 330206, 90642, 93603 Malformation syndrome 647811 Cardiac-urogenital syndrome 102285, 330206 Disease 643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome 102285, 330206 Disease 68378 Congenital limb malformation 93890 Category 109009 Syndrome with limb malformations as a major feature 68378 Category 1325 Camptodactyly-taurinuria syndrome 109009, 404577 Malformation syndrome 1927 Emery-Nelson syndrome 109009, 404577 Malformation syndrome 3294 Extensor tendons of finger anomalies 109009, 404577 Malformation syndrome 109007 Arthrogryposis syndrome 109009, 404577 Category 97120 Distal arthrogryposis 109007 Clinical group 65743 Autosomal dominant multiple pterygium syndrome 294060, 97120 Malformation syndrome 1147 Sheldon-Hall syndrome 97120, 98738 Malformation syndrome 1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome 97120 Malformation syndrome 1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome 90642, 97120 Malformation syndrome 3377 Trismus-pseudocamptodactyly syndrome 97120 Malformation syndrome 65720 Arthrogryposis-severe scoliosis syndrome 97120 Malformation syndrome 251515 Distal arthrogryposis type 10 97120 Malformation syndrome 329457 Distal arthrogryposis type 5D 97120 Disease 294060 Multiple pterygium syndrome 109007 Clinical group 79447 X-linked lethal multiple pterygium syndrome 294060 Malformation syndrome 294965 Lethal congenital contracture syndrome 109007 Clinical group 488586 Congenital amyoplasia 109007 Malformation syndrome 1037 Arthrogryposis multiplex congenita 109007 Clinical group 1143 Neurogenic arthrogryposis multiplex congenita 1037 Disease 1145 Infantile-onset X-linked spinal muscular atrophy 1037, 404538 Disease 1149 Kuskokwim syndrome 1037 Malformation syndrome 1485 Arthrogryposis-hyperkeratosis syndrome, lethal form 1037 Malformation syndrome 2680 Hypomyelination neuropathy-arthrogryposis syndrome 1037 Malformation syndrome 53696 Arthrogryposis-anterior horn cell disease syndrome 1037 Malformation syndrome 319332 Autosomal recessive myogenic arthrogryposis multiplex congenita 1037, 97242 Disease 210163 Congenital lethal myopathy, Compton-North type 1037, 97245 Disease 498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome 1037 Disease 486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures 1037, 98505 Disease 465824 Fetal encasement syndrome 109009, 404577 Malformation syndrome 109011 Non-syndromic limb malformation 183536, 68378 Category 294944 Congenital deformities of limbs 109011 Category 178382 Congenital vertical talus 294944 Morphological anomaly 295201 Congenital vertical talus, unilateral 178382 Clinical subtype 295203 Congenital vertical talus, bilateral 178382 Clinical subtype 294947 Congenital deformities of fingers 294944 Category 295014 Familial isolated clinodactyly of fingers 294947 Morphological anomaly 295016 Camptodactyly of fingers 294947 Morphological anomaly 294951 Congenital joint dislocations 109011 Category 295030 True congenital shoulder dislocation 294951 Morphological anomaly 295032 Isolated congenital radial head dislocation 294951 Morphological anomaly 295225 Congenital elbow dislocation, unilateral 295032 Clinical subtype 295227 Congenital elbow dislocation, bilateral 295032 Clinical subtype 295034 Congenital knee dislocation 294951 Morphological anomaly 295229 Congenital genu recurvatum 295034 Clinical subtype 295232 Congenital genu flexum 295034 Clinical subtype 295036 Congenital patella dislocation 294951 Morphological anomaly 294953 Non-syndromic limb overgrowth 109011 Category 295044 Macrodactyly of fingers 294953 Morphological anomaly 295241 Macrodactyly of fingers, bilateral 295044 Clinical subtype 295047 Macrodactyly of toes 294953 Morphological anomaly 295245 Macrodactyly of toes, bilateral 295047 Clinical subtype 295049 Upper limb hypertrophy 294953 Morphological anomaly 295051 Lower limb hypertrophy 294953 Morphological anomaly 295000 Amniotic band syndrome 2416, 68378 Malformation syndrome 68419 Rare vascular anomaly 93890, 98028 Category 211266 Fast-flow vascular malformation 68419 Category 715762 Unifocal fast-flow vascular malformation 211266 Clinical group 707944 Peripheral fast-flow vascular malformation 715762 Clinical group 708051 Peripheral congenital arteriovenous fistula 707944 Malformation syndrome 708007 Intramuscular fast-flow vascular anomaly 707944 Malformation syndrome 708046 Peripheral arteriovenous malformation 707944 Malformation syndrome 715744 Fast-flow vascular malformation of the central nervous system 715762 Clinical group 715750 Intracranial fast-flow vascular malformation 715744 Clinical group 46724 Brain arteriovenous malformation 102006, 211240, 371436, 715750 Morphological anomaly 715292 Brain pial arteriovenous fistula 715750 Disease 715318 Acquired intracranial dural arteriovenous fistula 715750 Disease 97339 Dural sinus malformation with arteriovenous shunt 102006, 715750 Morphological anomaly 692271 Cerebral proliferative angiopathy 166487, 715750, 98022 Disease 1053 Vein of Galen malformation 102006, 211240, 371436, 715750 Morphological anomaly 715025 Spinal fast-flow vascular malformation 715744 Clinical group 715284 Spinal cord arteriovenous malformation 715025 Morphological anomaly 715302 Spinal pial arteriovenous fistula 715025 Disease 715307 Acquired spinal dural arteriovenous fistula 715025 Morphological anomaly 715326 Spinal epidural arteriovenous malformation 715025 Morphological anomaly 715331 Paraspinal arteriovenous malformation 715025 Morphological anomaly 715757 Metameric fast-flow vascular malformation 715762 Clinical group 53721 Spinal arteriovenous metameric syndrome 102006, 715757, 79379 Malformation syndrome 141189 Cerebrofacial arteriovenous metameric syndrome 102006, 715757 Malformation syndrome 693855 Visceral arteriovenous malformation 715762 Clinical group 693846 Hepatic arteriovenous malformation 101938, 506210, 693855 Malformation syndrome 693839 Renal arteriovenous malformation 506213, 693855, 93618 Malformation syndrome 693832 Gastrointestinal tract arteriovenous malformation 117569, 165711, 693855 Malformation syndrome 693815 Uterine arteriovenous malformation 101433, 693855 Malformation syndrome 693872 Urinary tract arteriovenous malformation 101433, 693855 Malformation syndrome 714698 Arteriovenous malformation of the thoraco-abdominal-pelvic cavity 715762 Clinical group 714709 Mediastinal arteriovenous malformation 714698 Morphological anomaly 714726 Retroperitoneal arteriovenous malformation 714698 Morphological anomaly 714715 Pelvic arteriovenous malformation 714698 Morphological anomaly 714702 Abdominal arteriovenous malformation 714698 Morphological anomaly 137667 Capillary malformation-arteriovenous malformation 211240, 211266, 506222, 536391, 715466 Clinical group 693907 RASA1-related capillary malformation-arteriovenous malformation 137667 Malformation syndrome 693912 EPHB4-related capillary malformation-arteriovenous malformation 137667 Malformation syndrome 211252 Slow-flow malformation, venous type 68419 Category 715339 Multifocal peripheral venous malformation 211252 Clinical group 2451 Mucocutaneous venous malformations 459548, 715339 Malformation syndrome 714806 Multifocal sporadic venous malformation 715339 Morphological anomaly 83454 Glomuvenous malformation 102006, 371436, 459548, 715334, 715339 Malformation syndrome 140436 Familial intraosseous vascular malformation 235832, 715339 Disease 1059 Blue rubber bleb nevus 140162, 183478, 459548, 715339, 79379 Malformation syndrome 715334 Unifocal peripheral venous malformation 211252 Clinical group 714785 Unifocal sporadic venous malformation 715334 Morphological anomaly 715923 Intraosseous venous malformation 715334 Morphological anomaly 464318 Verrucous hemangioma 458837, 715334 Disease 699683 Fibro-adipose vascular anomaly 715334 Disease 217008 Segmental venous malformation 715334, 79379 Malformation syndrome 717564 Dural sinus malformation without arteriovenous shunt 211252 Malformation syndrome 714734 Sinus pericranii 211252 Morphological anomaly 221061 Familial cerebral cavernous malformation 102006, 211252, 371436, 459548 Malformation syndrome 211247 Rare capillary malformation 68419 Category 95429 Angioma serpiginosum 183478, 211247, 79379 Disease 624 Familial multiple nevi flammei 183478, 211247, 459526, 79379 Morphological anomaly 715446 Geographic pattern capillary malformation 211247 Clinical group 715460 Syndromic geographic pattern capillary malformation 715446 Clinical group 715345 Isolated geographic pattern capillary malformation 715446 Morphological anomaly 458830 Rare capillary malformation with associated anomalies 211247, 459526 Category 715453 Reticulated capillary malformation 211247 Clinical group 715353 Isolated reticulated capillary malformation 715453 Morphological anomaly 714737 Diffuse capillary malformation with overgrowth 715453 Morphological anomaly 715463 Low resistance capillary malformation 211247 Clinical group 715359 Isolated low resistance capillary malformation 715463 Morphological anomaly 715466 Syndromic low resistance capillary malformation 715463 Clinical group 1556 Cutis marmorata telangiectatica congenita 211247, 79379 Malformation syndrome 211255 Slow-flow malformation, lymphatic type 68419 Category 77240 Primary lymphedema 211240, 211255, 68346, 89826 Category 568041 Primary lymphedema without systemic or visceral involvement 77240 Category 2416 Congenital primary lymphedema without systemic or visceral involvement 568041 Clinical group 79452 Milroy disease 2416 Disease 569821 Congenital primary lymphedema of Gordon 2416 Disease 289825 Late-onset primary lymphedema without systemic or visceral involvement 568041 Clinical group 1414 Cholestasis-lymphedema syndrome 156601, 289825, 57146 Disease 90186 Meige disease 289825 Disease 569816 CELSR1-related late-onset primary lymphedema 289825 Disease 568051 GJC2-related late-onset primary lymphedema 289825 Disease 568044 Primary lymphedema with systemic or visceral involvement 77240 Category 568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis 568044 Disease 568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome 140162, 183494, 331193, 568044, 79391 Disease 662 Lymphedema with yellow nails 264683, 568044, 79370 Disease 69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome 567562, 568044 Disease 86915 Lymphedema-atrial septal defects-facial changes syndrome 568044 Malformation syndrome 568047 Disorder with multisystemic involvement and primary lymphedema 77240 Category 742 Prolidase deficiency 568047, 611314, 68385, 79187, 79387 Disease 99807 PEHO-like syndrome 166472, 568047 Disease 2836 PEHO syndrome 166472, 182070, 183500, 441434, 568047 Disease 2415 Isolated rare lymphatic malformation 211255 Category 464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome 2415, 248347 Disease 141209 Diffuse lymphatic malformation 2415 Malformation syndrome 464329 Kaposiform lymphangiomatosis 2415 Disease 717582 Coagulation abnormality associated with a vascular anomaly 68419 Clinical group 2330 Kasabach-Merritt phenomenon 248308, 717582 Particular clinical situation in a disease or syndrome 717585 Kasabach-Merritt-like phenomenon 248308, 717582 Particular clinical situation in a disease or syndrome 717593 Disseminated intravascular coagulation associated with a vascular anomaly 717582 Particular clinical situation in a disease or syndrome 717588 Localized intravascular coagulation 717582 Particular clinical situation in a disease or syndrome 458844 Rare vascular malformation of major vessels 68419 Category 981 Internal carotid absence 102006, 458844 Morphological anomaly 97598 Congenital renal artery stenosis 458844, 506213, 93618 Disease 698260 Carotid web 458844 Disease 494424 Extracranial carotid artery aneurysm 458844 Morphological anomaly 458837 Rare combined vascular malformation 68419 Clinical group 717611 Capillary-venous malformation 458837 Morphological anomaly 717605 Capillary-lymphatic malformation 458837 Morphological anomaly 717598 Lymphatic-venous malformation 458837 Malformation syndrome 717619 Capillary-lymphatic-venous malformation 458837 Morphological anomaly 211277 Complex vascular malformation with associated anomalies 68419 Category 86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome 211277 Malformation syndrome 211237 Rare vascular tumor 68419, 98057 Category 673466 Malignant vascular tumor 211237 Clinical group 157791 Epithelioid hemangioendothelioma 459543, 673466 Disease 263413 Angiosarcoma 3394, 673466 Disease 673470 Benign vascular tumor 211237 Clinical group 1063 Tufted angioma 459543, 673470 Disease 71213 Retinal capillary malformation 102006, 371436, 673470, 716450 Disease 210584 Spindle cell hemangioma 673470 Disease 458775 Congenital hemangioma 673470 Clinical group 458785 Partially involuting congenital hemangioma 458775 Disease 141184 Rapidly involuting congenital hemangioma 458775 Disease 141179 Non-involuting congenital hemangioma 458775 Disease 675359 Anastomosing haemangioma 459543, 673470 Disease 675597 Acquired elastotic haemangioma 673470 Disease 675362 Hobnail hemangioma 673470 Disease 675369 Microvenular haemangioma 673470 Disease 675396 Epithelioid hemangioma 459543, 673470 Disease 673543 Papillary hemangioma 673470 Disease 673574 Reactive angioendotheliomatosis 673470 Disease 673568 Eccrine angiomatous hamartoma 673470, 79386 Disease 673538 Littoral cell hemangioma of the spleen 673470 Disease 673525 Intravascular papillary endothelial hyperplasia 673470, 79386 Disease 210589 Rare infantile hemangioma 673470 Clinical group 2123 Multifocal infantile hemangioma with extracutenous involvement 210589 Disease 675380 Isolated segmental infantile hemangioma 210589 Disease 673473 Borderline vascular tumor 211237 Clinical group 2122 Kaposiform hemangioendothelioma 673473, 71209 Disease 33276 Kaposi sarcoma 102024, 3394, 673473 Disease 458758 Composite hemangioendothelioma 673473 Disease 458763 Retiform hemangioendothelioma 673473 Disease 458768 Papillary intralymphatic angioendothelioma 673473 Disease 673556 Pseudomyogenic hemangioendothelioma 459543, 673473 Disease 211243 Simple vascular malformation 68419 Category 694228 Congenital intrahepatic arterioportal fistula 101938, 211243 Malformation syndrome 52662 Rare teratologic disease 93890 Category 232035 Infectious embryofetopathy 52662, 68416 Category 290 Congenital rubella syndrome 166490, 232035, 98641 Disease 858 Congenital toxoplasmosis 163588, 166490, 232035 Disease 291 Congenital varicella syndrome 232035, 98641 Disease 293 Congenital herpes simplex virus infection 163585, 232035 Disease 294 Fetal cytomegalovirus syndrome 166490, 232035 Disease 292 Congenital enterovirus infection 232035 Disease 70596 Congenital Epstein-Barr virus infection 163585, 232035 Disease 499009 Congenital syphilis 232035 Disease 251529 Toxic or drug-related embryofetopathy 108999, 52662 Category 1916 Diethylstilbestrol syndrome 180065, 251529, 399882 Malformation syndrome 40366 Acitretin/etretinate embryopathy 251529 Malformation syndrome 268249 Mycophenolate mofetil embryopathy 251529 Malformation syndrome 370068 Fetal anticonvulsant syndrome 251529 Clinical group 370076 Fetal carbamazepine syndrome 370068 Malformation syndrome 251535 Maternal disease-related embryofetopathy 52662 Category 83001 Urogenital tract malformation 101433, 93890 Category 165704 Non-syndromic urogenital tract malformation 506213, 83001 Category 182117 Non-syndromic urogenital tract malformation of female 165704 Category 180065 Non-syndromic uterovaginal malformation 180062, 182117 Category 73217 Müllerian aplasia 156622, 180065, 183731 Clinical group 180068 Partial bilateral aplasia of the Müllerian ducts 73217 Clinical group 247768 Müllerian aplasia and hyperandrogenism 180068, 325109, 325638 Malformation syndrome 180071 Unilateral aplasia of the Müllerian ducts 73217 Clinical group 180074 True unicornuate uterus 180071 Morphological anomaly 180079 Pseudounicornuate uterus 180071 Morphological anomaly 180122 Septate uterus 180065, 399882 Clinical group 180126 Complete septate uterus 180122 Morphological anomaly 180129 Partial septate uterus 180122 Morphological anomaly 180134 Bicornuate uterus 180065 Clinical group 180086 Didelphys uterus 180134 Morphological anomaly 180106 Bicervical bicornuate uterus and blind hemivagina 180086 Clinical subtype 180111 Bicervical bicornuate uterus with patent cervix and vagina 180086 Clinical subtype 180114 Unicervical bicornuate uterus 180134 Morphological anomaly 180139 Uterine hypoplasia 180065 Morphological anomaly 180142 Absence of uterine body 180065, 399882 Morphological anomaly 180145 Uterine cervical aplasia and agenesis 180065, 399882 Morphological anomaly 180151 Rare vaginal malformation 182117, 96344, 98049 Category 65681 Vaginal atresia 180151 Morphological anomaly 96269 Isolated partial vaginal agenesis 180151 Morphological anomaly 180154 Septate vagina 180151 Morphological anomaly 180157 Longitudinal vaginal septum 180154 Clinical subtype 180160 Transverse vaginal septum 180154 Clinical subtype 603515 Isolated female hypospadias 182117 Morphological anomaly 647794 Isolated persistent urogenital sinus 182117 Morphological anomaly 182121 Non-syndromic urogenital tract malformation of male 165704 Category 48 Congenital bilateral absence of vas deferens 156622, 182121, 399998, 98343 Morphological anomaly 2842 Penoscrotal transposition 182121 Morphological anomaly 49 Penile agenesis 182121, 98085 Morphological anomaly 227 Diphallia 182121 Morphological anomaly 95706 Non-syndromic posterior hypospadias 156622, 182121 Morphological anomaly 95707 Idiopathic isolated micropenis 182121 Morphological anomaly 696897 Congenital megaprepuce 182121 Morphological anomaly 495879 Congenital agenesis of the scrotum 182121 Morphological anomaly 182124 Non-syndromic urogenital tract malformation of male and female 165704 Category 165707 Syndromic urogenital tract malformation 156622, 83001 Category 1046 Lethal hemolytic anemia-genital anomalies syndrome 165707, 182043 Malformation syndrome 2487 Lower limb malformation-hypospadias syndrome 165707 Malformation syndrome 3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome 165707 Malformation syndrome 90642 Rare syndromic genetic deafness 68361, 93890, 96210 Category 521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome 102006, 371436, 90642 Malformation syndrome 171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome 207015, 352309, 716405, 90642 Disease 171851 MEDNIK syndrome 183438, 281238, 309839, 611314, 79355, 90642 Disease 199343 EAST syndrome 182083, 183518, 183592, 611314, 90642, 93603, 98746 Disease 280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness 35656, 567562, 90642 Disease 293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome 90642 Malformation syndrome 300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome 567562, 595351, 90642 Disease 314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome 68354, 90642, 94145 Disease 329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy 206966, 254767, 519347, 522522, 68385, 90642 Disease 330029 Hypotrichosis-deafness syndrome 308166, 481771, 79364, 79370, 90642 Disease 330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome 206966, 2443, 522548, 611314, 90642, 98641 Disease 352328 MEGDEL syndrome 289902, 309136, 352306, 68385, 90642 Disease 397744 MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome 140465, 206650, 90642 Disease 402041 Autosomal recessive distal renal tubular acidosis 18, 90642 Clinical subtype 411590 Wolfram-like syndrome 181371, 183625, 441434, 90642 Disease 445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome 181381, 183518, 183625, 90642 Disease 448251 Progressive autosomal recessive ataxia-deafness syndrome 90642 Disease 637 Full NF2-related schwannomatosis 506213, 522548, 634518, 90642, 98641 Disease 649 Norrie disease 522548, 611314, 716459, 717348, 90642, 98641 Malformation syndrome 998 Albinism-deafness syndrome 183469, 79376, 90642 Malformation syndrome 999 Ermine phenotype 90642 Malformation syndrome 1000 Ocular albinism with late-onset sensorineural deafness 284804, 90642 Disease 705 Pendred syndrome 177107, 90642 Malformation syndrome 886 Usher syndrome 156177, 716405, 90642 Disease 231183 Usher syndrome type 3 886 Clinical subtype 231169 Usher syndrome type 1 886 Clinical subtype 231178 Usher syndrome type 2 886 Clinical subtype 3463 Wolfram syndrome 181371, 183625, 441434, 90642 Disease 2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome 206966, 254837, 90642 Disease 1187 Lethal ataxia with deafness and optic atrophy 247765, 611314, 79191, 90642 Disease 1188 Ataxia-deafness-intellectual disability syndrome 247765, 522520, 611314, 90642, 98683 Malformation syndrome 1368 Cataract-ataxia-deafness syndrome 183518, 522548, 90642, 98641 Disease 1490 Corneal dystrophy-perceptive deafness syndrome 90642, 98628 Malformation syndrome 2202 Palmoplantar keratoderma-deafness syndrome 90642, 98352 Disease 494 Keratoderma hereditarium mutilans 307773, 90642 Disease 2405 Thickened earlobes-conductive deafness syndrome 90642 Malformation syndrome 3216 Conductive deafness-malformed external ear syndrome 90642 Malformation syndrome 631248 Mitchell Syndrome 140453, 90642 Disease 457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome 519343, 522508, 611314, 90642 Malformation syndrome 2074 Gemignani syndrome 90642, 98099 Malformation syndrome 457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect 35696, 90642 Disease 231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome 90642, 95495 Malformation syndrome 182050 MYH9-related syndromic thrombocytopenia 477794, 567562, 90642 Disease 2589 Myoclonus-cerebellar ataxia-deafness syndrome 183518, 90642 Malformation syndrome 2668 Nephropathy-deafness-hyperparathyroidism syndrome 90642 Malformation syndrome 2690 Neutropenia-monocytopenia-deafness syndrome 331184, 90642 Disease 2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome 90642, 98352 Disease 2732 Olivopontocerebellar atrophy-deafness syndrome 90642 Malformation syndrome 2815 Spastic paraparesis-deafness syndrome 90642 Malformation syndrome 2855 Perrault syndrome 325109, 325638, 35696, 399877, 485382, 90642, 95710 Disease 642945 Perrault syndrome type 1 2855 Clinical subtype 642976 Perrault syndrome type 2 2855 Clinical subtype 2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome 90642 Malformation syndrome 3214 Deaf blind hypopigmentation syndrome, Yemenite type 183469, 522520, 79376, 90642, 98683 Malformation syndrome 3217 Deafness-small bowel diverticulosis-neuropathy syndrome 90642 Disease 3218 Deafness-epiphyseal dysplasia-short stature syndrome 90642 Malformation syndrome 69739 Athabaskan brainstem dysgenesis syndrome 71859, 90642, 98006 Disease 3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome 90642 Malformation syndrome 3232 Deafness-ear malformation-facial palsy syndrome 90642 Malformation syndrome 3233 Cochleosaccular degeneration-cataract syndrome 522548, 90642, 98641 Malformation syndrome 3235 Progressive deafness with stapes fixation 90642 Malformation syndrome 3238 Cardiospondylocarpofacial syndrome 90642 Malformation syndrome 3239 Deafness-vitiligo-achalasia syndrome 90642 Malformation syndrome 1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome 441434, 90642, 94145 Disease 3240 Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome 314822, 611314, 696870, 90642 Disease 42665 Tietz syndrome 183469, 79376, 90642 Malformation syndrome 49827 Thiamine-responsive megaloblastic anemia syndrome 181381, 183625, 298644, 90642, 98362, 98415 Disease 52368 Mohr-Tranebjaerg syndrome 182070, 183500, 254834, 441434, 611314, 90642 Disease 64747 X-linked Charcot-Marie-Tooth disease 166, 611314, 90642 Clinical group 99014 X-linked Charcot-Marie-Tooth disease type 5 441434, 64747, 79191 Disease 101075 X-linked Charcot-Marie-Tooth disease type 1 64747 Disease 101076 X-linked Charcot-Marie-Tooth disease type 2 64747 Disease 101077 X-linked Charcot-Marie-Tooth disease type 3 64747 Disease 101078 X-linked Charcot-Marie-Tooth disease type 4 64747 Disease 352675 X-linked Charcot-Marie-Tooth disease type 6 64747 Disease 66633 Sensorineural hearing loss-early graying-essential tremor syndrome 306712, 307061, 519296, 90642 Disease 89938 Bartter syndrome type 4 112, 506213, 90642 Clinical subtype 90024 Deafness with labyrinthine aplasia, microtia, and microdontia 90642 Malformation syndrome 90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome 140459, 611314, 90642 Malformation syndrome 90646 Deafness-hypogonadism syndrome 181441, 90642 Malformation syndrome 90658 Charcot-Marie-Tooth disease type 1E 65753, 90642 Disease 97229 Riboflavin transporter deficiency 206704, 441434, 90642 Malformation syndrome 572543 RFVT2-related riboflavin transporter deficiency 183518, 97229 Clinical subtype 572550 RFVT3-related riboflavin transporter deficiency 97229 Clinical subtype 139512 Neuropathy with hearing impairment 140453, 90642 Disease 140917 Stapes ankylosis with broad thumbs and toes 90642 Malformation syndrome 447954 Combined oxidative phosphorylation defect type 25 35696, 68385, 90642 Disease 456318 Hereditary sensory neuropathy-deafness-dementia syndrome 140474, 276058, 90642, 98534 Disease 494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome 477794, 90642 Disease 542585 Auditory neuropathy-optic atrophy syndrome 309136, 441434, 68385, 90642 Disease 543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome 207018, 309136, 441434, 611314, 68385, 90642 Disease 633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome 611314, 90642 Disease 633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome 633014 Clinical subtype 633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome 633014 Clinical subtype 168569 H syndrome 181371, 183466, 183625, 79375, 90642 Malformation syndrome 652532 Adult-onset progressive leukoencephalopathy-early-onset deafness 68356, 90642 Disease 90771 Difference of sex development 101433, 93890, 97978 Category 2982 46,XX difference of sex development 90771 Category 98078 46,XX difference of sex development induced by androgens excess 2982, 325620 Category 90776 46,XX difference of sex development induced by fetal androgens excess 325665, 325697, 98078 Category 786 Generalized glucocorticoid resistance syndrome 181412, 90776 Disease 90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency 418, 90776, 90786 Disease 90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency 399584, 399849, 399994, 400018, 418, 90776 Disease 315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form 90794 Clinical subtype 315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form 90794 Clinical subtype 90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency 418, 90776 Disease 95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency 418, 90776, 90786 Disease 91144 46,XX difference of sex development induced by maternal-derived androgen 98078 Category 325093 46,XX difference of sex development induced by endogenous maternal-derived androgen 91144 Clinical group 325099 46,XX difference of sex development induced by exogenous maternal-derived androgen 91144 Clinical group 325061 46,XX difference of sex development induced by fetoplacental androgens excess 325665, 325697, 98078 Category 91 Aromatase deficiency 163637, 325061, 399572, 399831, 399983, 400011, 485382, 95710 Disease 325055 46,XX disorder of gonadal development 2982, 325697 Category 243 46,XX gonadal dysgenesis 325055, 399877, 485382, 506213, 95710, 98074 Malformation syndrome 2138 46,XX ovotesticular difference of sex development 325055, 399877, 506213, 98074 Malformation syndrome 393 46,XX testicular difference of sex development 325055, 506213, 98313 Malformation syndrome 444048 46,XX ovarian dysgenesis-short stature syndrome 325055, 399877, 485382, 95710, 98074 Disease 325109 Syndrome with 46,XX difference of sex development 2982, 325697 Category 2975 46,XX difference of sex development-skeletal anomalies syndrome 325109, 325638 Malformation syndrome 85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome 307804, 325109, 325638 Disease 137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome 264665, 264992, 317416, 325109, 325638 Disease 139466 SERKAL syndrome 325109 Malformation syndrome 98085 46,XY difference of sex development 90771 Category 98087 Syndrome with 46,XY difference of sex development 325706, 98085 Category 1770 XY type gonadal dysgenesis-associated anomalies syndrome 325638, 506213, 98087 Malformation syndrome 3097 Meacham syndrome 180148, 325638, 98087 Malformation syndrome 220 Denys-Drash syndrome 183422, 325638, 567562, 98087 Disease 347 Frasier syndrome 183422, 325638, 567562, 98087 Disease 95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone 181390, 595337, 98087 Disease 168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome 325638, 506213, 98087 Malformation syndrome 168593 Sudden infant death-dysgenesis of the testes syndrome 101944, 156610, 98087 Malformation syndrome 494433 MIRAGE syndrome 156643, 181412, 595337, 611314, 90692, 98087 Disease 325118 46,XY disorder of gonadal development 325706, 98085 Category 242 46,XY complete gonadal dysgenesis 325118, 506213, 98074 Malformation syndrome 983 Testicular regression syndrome 325118, 98313 Morphological anomaly 251510 46,XY partial gonadal dysgenesis 325118, 399877, 506213, 98074, 98313 Malformation syndrome 325124 Testicular agenesis 325118, 98313 Morphological anomaly 325345 46,XY ovotesticular difference of sex development 325118, 506213, 98074 Disease 325351 46,XY difference of sex development of endocrine origin 98085 Category 754 Androgen insensitivity syndrome 325351, 325632, 325713, 399685 Clinical group 90797 Partial androgen insensitivity syndrome 754 Disease 99429 Complete androgen insensitivity syndrome 754 Disease 2856 Persistent Müllerian duct syndrome 325351, 399824, 400003 Malformation syndrome 325357 46,XY difference of sex development due to impaired androgen production 325351, 325713, 506213 Category 755 Leydig cell hypoplasia 325357, 399685 Disease 96265 Leydig cell hypoplasia due to complete LH resistance 755 Clinical subtype 96266 Leydig cell hypoplasia due to partial LH resistance 755 Clinical subtype 325448 Leydig cell hypoplasia due to LHB deficiency 755 Clinical subtype 90783 46,XY difference of sex development due to a testosterone synthesis defect 325357 Category 90786 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect 325632, 90783 Category 90790 Congenital lipoid adrenal hyperplasia due to STAR deficency 399849, 400018, 418, 485382, 90786, 95710 Disease 325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency 90790 Clinical subtype 325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency 399584, 399994, 90790 Clinical subtype 90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency 399584, 399849, 399994, 400018, 418, 485382, 90786, 95710 Disease 168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency 101960, 90786 Disease 90787 46,XY difference of sex development due to testicular steroidogenesis defect 325632, 90783 Category 752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency 399685, 399849, 400018, 90787 Disease 90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency 90787 Disease 325511 46,XY difference of sex development due to a cholesterol synthesis defect 90783 Category 98086 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue 325357, 325632 Category 753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency 399685, 98086 Disease 443090 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect 325357 Category 443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency 443090 Disease 325537 46,XY difference of sex development induced by maternal exposure to endocrine disruptors 325351, 506213 Category 325546 Sex chromosome difference of sex development 325690, 90771 Category 647916 Conjoined twins 93890 Malformation syndrome 68367 Rare inborn errors of metabolism 98053 Category 137 Congenital disorder of glycosylation 68367 Category 309347 Disorder of protein N-glycosylation 137 Category 79318 PMM2-CDG 309347, 371071, 371157, 371200, 611314 Disease 79319 MPI-CDG 309347, 371157, 371188, 611314 Disease 79320 ALG6-CDG 309347, 371071, 371188, 611314 Disease 79321 ALG3-CDG 309347, 371071, 611314 Disease 79324 ALG12-CDG 309347, 371047, 611314 Disease 79325 ALG8-CDG 309347, 371047, 371157, 371188, 371207, 611314, 98644 Disease 79326 ALG2-CDG 309347, 371071, 371157, 611314, 98644 Disease 79327 ALG1-CDG 309347, 371071, 611314 Disease 79328 ALG9-CDG 309347, 371071, 371157, 611314 Disease 79330 MOGS-CDG 309347, 371071, 371157, 611314, 696870 Disease 86309 DPAGT1-CDG 309347, 371071, 611314 Disease 280071 ALG11-CDG 309347, 371071, 611314 Disease 300536 DDOST-CDG 309347, 371047, 371157, 611314 Disease 324422 ALG13-CDG 309347, 371071, 371157, 611314 Disease 370921 STT3A-CDG 309347, 371071, 611314 Disease 370924 STT3B-CDG 309347, 371071, 611314 Disease 397941 MAN1B1-CDG 309347, 371047, 611314 Disease 697734 ST3GAL3-CDG 309347 Disease 695110 MAN2B2-CDG 309347, 611314 Disease 695783 EDEM3-CDG 309347, 611314 Disease 309447 Disorder of protein O-glycosylation 137 Category 309450 Disorder of O-xylosylglycan synthesis 309447 Category 466926 Seizures-scoliosis-macrocephaly syndrome 309450, 371071, 611314 Disease 480682 POGLUT1-related limb-girdle muscular dystrophy R21 102015, 309450 Disease 309458 Disorder of O-N-acetylgalactosaminylglycan synthesis 309447 Category 309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis 309447 Category 309469 Disorder of O-mannosylglycan synthesis 309447 Category 34515 FKRP-related limb-girdle muscular dystrophy R9 102015, 207119, 309469, 371047 Disease 86812 POMT1-related limb-girdle muscular dystrophy R11 102015, 209030, 309469, 371047, 611314 Disease 206559 POMT2-related limb-girdle muscular dystrophy R14 102015, 209033, 309469, 371047, 611314 Disease 206564 POMGNT1-related limb-girdle muscular dystrophy R15 102015, 209024, 309469, 371047 Disease 352479 ISPD-related limb-girdle muscular dystrophy R20 102015, 207113, 309469, 371047, 611314 Disease 363623 GMPPB-related limb-girdle muscular dystrophy R19 102015, 309469, 371047, 611314 Disease 370959 Congenital muscular dystrophy with cerebellar involvement 309469, 370953, 371047, 611314 Disease 370968 Congenital muscular dystrophy with intellectual disability 309469, 370953, 371047, 611314 Disease 370980 Congenital muscular dystrophy without intellectual disability 309469, 370953, 371047 Disease 445110 Limb-girdle muscular dystrophy due to POMK deficiency 102015, 207113, 309469, 68385 Disease 309505 Disorder of fucoglycosan synthesis 309447 Category 79145 Dowling-Degos disease 183466, 309505, 371200, 79375 Disease 309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation 137 Category 401820 Autosomal recessive spastic paraplegia type 67 100981, 309515 Disease 370933 GM3 synthase deficiency 309515, 352306, 371071, 371200, 611314 Disease 397922 Ferro-cerebro-cutaneous syndrome 101939, 101940, 156604, 182070, 183500, 309515 Disease 447 Paroxysmal nocturnal hemoglobinuria 158300, 164823, 182047, 309515 Disease 83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency 248361, 309515, 371071 Disease 488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome 309515, 371071, 611314 Disease 309526 Disorder of multiple glycosylation 137 Category 602 GNE myopathy 206653, 206662, 209203, 309526, 371047, 477794 Disease 79322 DPM1-CDG 309526, 371071, 611314 Disease 79323 MPDU1-CDG 309526, 371071, 371200, 611314 Disease 98873 Congenital dyserythropoietic anemia type II 309526, 85 Disease 99843 Leukocyte adhesion deficiency type II 2968, 309526, 371071, 611314 Clinical subtype 238459 SLC35A1-CDG 309526, 371071, 371207, 611314 Disease 309568 Defect in conserved oligomeric Golgi complex 309526 Category 464443 COG6-CGD 309568, 371047 Disease 95428 COG8-CDG 309568, 371071, 611314 Disease 263487 COG5-CDG 309568, 371047, 611314 Disease 263501 COG4-CDG 309568, 371071, 371157, 611314 Disease 435934 COG2-CDG 309568, 371047 Disease 309778 Defect in V-ATPase 309526 Category 692790 ATP6AP1-CDG 309778, 371047, 371157, 371200 Disease 329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy 309526, 370953, 371071, 371157, 611314 Disease 443811 PGM3-CDG 309526, 331223, 611314 Disease 448010 CAD-CDG 309526, 79193 Disease 466703 TMEM199-CDG 309526, 477811 Disease 468684 CCDC115-CDG 309526, 477811 Disease 68366 Lysosomal disease 68367 Category 306511 Autosomal recessive spastic paraplegia type 48 320346, 68366, 68385 Disease 216 Neuronal ceroid lipofuscinosis 182070, 183500, 225681, 68366, 68385, 716405, 98543 Clinical group 228329 CLN1 disease 216, 98261 Disease 699718 Infantile CLN1 disease 228329 Clinical subtype 699739 Juvenile CLN1 disease 228329 Clinical subtype 699745 Adult CLN1 disease 228329 Clinical subtype 699734 Late infantile CLN1 disease 228329 Clinical subtype 228349 CLN2 disease 216, 98261 Disease 699751 Infantile CLN2 disease 228349 Clinical subtype 699769 Juvenile CLN2 disease 228349 Clinical subtype 699761 Late infantile CLN2 disease 228349 Clinical subtype 228346 CLN3 disease 216, 98261 Disease 699780 Juvenile CLN3 disease 228346 Clinical subtype 699796 Protracted juvenile CLN3 disease 228346 Clinical subtype 228343 CLN4 disease 216, 98261 Disease 314632 CLN12 disease 216, 514980 Disease 314629 CLN11 disease 216, 98261 Disease 699708 CLN14 disease 216 Disease 228360 CLN5 disease 216, 98261 Disease 699802 Late infantile CLN5 disease 228360 Clinical subtype 699807 Juvenile CLN5 disease 228360 Clinical subtype 699812 Adult CLN5 disease 228360 Clinical subtype 228363 CLN6 disease 216, 98261 Disease 700477 Adult CLN6 disease 228363 Clinical subtype 700467 Late infantile CLN6 disease 228363 Clinical subtype 700472 Juvenile CLN6 disease 228363 Clinical subtype 228366 CLN7 disease 216, 98261 Disease 228354 CLN8 disease 216, 98261 Disease 700484 Late infantile CLN8 disease 228354 Clinical subtype 352709 CLN13 disease 216, 98261 Disease 228337 CLN10 disease 216, 98261 Disease 700487 Congenital CLN10 disease 228337 Clinical subtype 700492 Late infantile CLN10 disease 228337 Clinical subtype 700497 Juvenile CLN10 disease 228337 Clinical subtype 35121 Lysosomal acid phosphatase deficiency 68366 Disease 79207 Disorder of lysosomal amino acid transport 68366 Category 834 Free sialic acid storage disease 225681, 611314, 68385, 79207 Disease 309324 Free sialic acid storage disease, infantile form 834, 93448 Clinical subtype 309331 Intermediate severe Salla disease 834 Clinical subtype 309334 Salla disease 834 Clinical subtype 79225 Sphingolipidosis 506219, 68366 Category 333 Farber disease 183484, 371442, 611314, 68385, 716405, 79225, 79382 Disease 487 Krabbe disease 182070, 183500, 371442, 441434, 68356, 68385, 79225 Disease 206443 Late-infantile/juvenile Krabbe disease 487 Clinical subtype 206448 Adult Krabbe disease 487, 98544 Clinical subtype 206436 Infantile Krabbe disease 487 Clinical subtype 512 Metachromatic leukodystrophy 207018, 371442, 441434, 68356, 68385, 79225, 98543 Disease 309256 Metachromatic leukodystrophy, late infantile form 512 Clinical subtype 309263 Metachromatic leukodystrophy, juvenile form 512 Clinical subtype 309271 Metachromatic leukodystrophy, adult form 512 Clinical subtype 355 Gaucher disease 79225 Disease 2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome 355, 98688 Clinical subtype 77260 Gaucher disease type 2 264719, 355, 371442, 522520, 68385, 98544, 98683 Clinical subtype 77261 Gaucher disease type 3 264719, 355, 371442, 399185, 519341, 522506, 68385, 98544, 98688 Clinical subtype 85212 Fetal Gaucher disease 281241, 355 Clinical subtype 309252 Atypical Gaucher disease due to saposin C deficiency 355 Clinical subtype 79204 Lipid storage disease 79225 Category 646 Niemann-Pick disease type C 182070, 183500, 264968, 371442, 68385, 79204, 98544, 98687 Disease 216972 Niemann-Pick disease type C, severe perinatal form 646 Clinical subtype 216975 Niemann-Pick disease type C, severe early infantile neurologic onset 646 Clinical subtype 216978 Niemann-Pick disease type C, late infantile neurologic onset 646 Clinical subtype 216981 Niemann-Pick disease type C, juvenile neurologic onset 646 Clinical subtype 216986 Niemann-Pick disease type C, adult neurologic onset 646 Clinical subtype 275761 Lysosomal acid lipase deficiency 101940, 181437, 79204 Disease 75233 Wolman disease 275761 Clinical subtype 75234 Cholesteryl ester storage disease 275761 Clinical subtype 139406 Encephalopathy due to prosaposin deficiency 371442, 68385, 79225 Disease 309144 Gangliosidosis 371442, 79225 Category 354 GM1 gangliosidosis 309144, 611314, 68385, 93448 Disease 79255 GM1 gangliosidosis type 1 354, 519341, 522506, 716405 Clinical subtype 79256 GM1 gangliosidosis type 2 354, 519341, 522506 Clinical subtype 79257 GM1 gangliosidosis type 3 354 Clinical subtype 309152 GM2 gangliosidosis 182070, 183500, 309144, 68385 Clinical group 796 Sandhoff disease 207018, 309152, 716405, 98544 Disease 309155 Sandhoff disease, infantile form 796 Clinical subtype 309162 Sandhoff disease, juvenile form 796 Clinical subtype 309169 Sandhoff disease, adult form 796 Clinical subtype 845 Tay-Sachs disease 207018, 309152, 716405, 98544 Disease 309178 Tay-Sachs disease, infantile form 845 Clinical subtype 309185 Tay-Sachs disease, juvenile form 845 Clinical subtype 309192 Tay-Sachs disease, adult form 845 Clinical subtype 309246 GM2 gangliosidosis, AB variant 309152 Disease 352641 Autosomal recessive cerebellar ataxia with late-onset spasticity 79225, 98096 Disease 618899 Acid sphingomyelinase deficiency 101940, 264719, 264992, 79225 Clinical group 77292 Infantile neurovisceral acid sphingomyelinase deficiency 371442, 611314, 618899, 68385, 716427 Disease 77293 Chronic visceral acid sphingomyelinase deficiency 207018, 477811, 611314, 618899 Disease 618891 Chronic neurovisceral acid sphingomyelinase deficiency 371442, 477811, 618899, 68385 Disease 309279 Glycoproteinosis 68366 Category 79215 Oligosaccharidosis 139009, 309279 Category 61 Alpha-mannosidosis 611314, 68385, 79215, 93448, 98644 Disease 309282 Alpha-mannosidosis, infantile form 61 Clinical subtype 309288 Alpha-mannosidosis, adult form 61 Clinical subtype 93 Aspartylglucosaminuria 225681, 611314, 68385, 79215, 93448 Disease 351 Galactosialidosis 68385, 716427, 79215, 93448 Disease 3137 Alpha-N-acetylgalactosaminidase deficiency 225681, 522548, 611314, 68385, 79215, 98641 Disease 79279 Alpha-N-acetylgalactosaminidase deficiency type 1 3137 Clinical subtype 79280 Alpha-N-acetylgalactosaminidase deficiency type 2 3137 Clinical subtype 79281 Alpha-N-acetylgalactosaminidase deficiency type 3 3137, 522520, 98644, 98683 Clinical subtype 309294 Sialidosis 716405, 79215 Clinical group 812 Sialidosis type 1 309294, 611314, 68385 Disease 309319 Disorder of sialic acid metabolism 68366 Category 3166 Sialuria 309319 Disease 309337 Lysosomal glycogen storage disease 68366 Category 68373 Peroxisomal disease 68367 Category 79189 Peroxisome biogenesis disorder 101940, 207018, 68356, 68373, 68385, 716405 Clinical group 44 Neonatal adrenoleukodystrophy 101960, 225686, 522520, 79189, 98644, 98683 Disease 309810 Disorder of peroxisomal alpha-, beta- and omega-oxidation 506219, 68373 Category 773 Adult Refsum disease 207018, 281238, 309810, 519286, 522568, 611314, 68356, 68385, 716405, 98096, 98644 Disease 926 Acatalasemia 309810 Disease 35706 Glutaric acidemia type 3 225696, 309810 Disease 79095 Congenital bile acid synthesis defect type 4 207018, 309810, 485631 Disease 79188 Peroxisomal beta-oxidation disorder 309810 Category 2971 Peroxisomal acyl-CoA oxidase deficiency 225686, 611314, 79188 Disease 43 X-linked adrenoleukodystrophy 101960, 181441, 182070, 183500, 225686, 68356, 68385, 79188, 98543 Disease 139396 X-linked cerebral adrenoleukodystrophy 43, 611314 Clinical subtype 139399 Adrenomyeloneuropathy 207018, 43 Clinical subtype 300 Bifunctional enzyme deficiency 79188 Disease 163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome 68356, 79188 Disease 93598 Primary hyperoxaluria type 1 309810, 416 Clinical subtype 3276 Disorder of plasmalogens biosynthesis 68373 Category 438178 Fatty acyl-CoA reductase 1 deficiency 225686, 3276, 611314, 68385, 98644 Disease 642954 Autosomal recessive ataxia due to PEX16 deficiency 68373, 68385, 98096 Disease 642965 Autosomal recessive ataxia due to PEX2 deficiency 68373, 68385, 98096 Disease 95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome 68373, 68385, 98096 Disease 247815 Autosomal recessive ataxia due to PEX10 deficiency 68373, 68385, 98096 Disease 79062 Disorder of amino acid and other organic acid metabolism 68367 Category 468726 Severe primary trimethylaminuria 79062 Disease 79166 Disorder of amino acid absorption and transport 79062 Category 534 Oculocerebrorenal syndrome of Lowe 156162, 183592, 506213, 519286, 522568, 611314, 79166, 93603, 98638, 98646 Malformation syndrome 214 Cystinuria 183592, 506213, 79166, 93603 Disease 93612 Cystinuria type A 214 Etiological subtype 93613 Cystinuria type B 214 Etiological subtype 2195 Dicarboxylic aminoaciduria 79166 Disease 470 Lysinuric protein intolerance 664482, 79166 Disease 94086 Blue diaper syndrome 79166 Disease 308451 Disorder of neutral amino acid transport 79166 Category 2116 Hartnup disease 183490, 308451, 611314, 68385, 79390, 93593 Disease 42062 Iminoglycinuria 308451 Disease 363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome 79166, 98096 Disease 324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency 363429, 611314 Clinical subtype 363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency 363429, 611314 Clinical subtype 79167 Disorder of urea cycle metabolism and ammonia detoxification 79062 Category 90 Argininemia 79167 Disease 23 Argininosuccinic aciduria 611314, 79167 Disease 147 Carbamoyl-phosphate synthetase 1 deficiency 79167 Disease 187 Citrullinemia 79167 Category 247525 Citrullinemia type I 187 Disease 247546 Acute neonatal citrullinemia type I 247525 Clinical subtype 247573 Late-onset citrullinemia type I 247525 Clinical subtype 247582 Citrin deficiency 187 Category 247585 Citrullinemia type II 101940, 247582 Disease 247598 Neonatal intrahepatic cholestasis due to citrin deficiency 247582 Disease 415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 611314, 79167 Disease 927 Hyperammonemia due to N-acetylglutamate synthase deficiency 611314, 79167 Disease 35878 Hyperinsulinism-hyperammonemia syndrome 165985, 79167 Disease 401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency 79167, 79177, 79197 Disease 664 Ornithine transcarbamylase deficiency 611314, 79167 Disease 79173 Disorder of methionine cycle and sulfur amino acid metabolism 79062 Category 562538 Autosomal recessive extra-oral halitosis 79173 Disease 619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome 331217, 68385, 79173 Disease 212 Cystathioninuria 79173 Disease 622 Homocystinuria without methylmalonic aciduria 68385, 79171, 79173, 98396 Disease 2169 Methylcobalamin deficiency type cblE 611314, 622 Clinical subtype 2170 Methylcobalamin deficiency type cblG 622 Clinical subtype 308380 Methylcobalamin deficiency type cblDv1 622 Clinical subtype 168598 Methionine adenosyltransferase I/III deficiency 611314, 68385, 79173 Disease 289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency 68385, 79173 Disease 289891 Hypermethioninemia due to glycine N-methyltransferase deficiency 79173 Disease 1035 Beta-mercaptolactate cysteine disulfiduria 447874, 79173 Biological anomaly 79181 Disorder of histidine metabolism 79062 Category 2157 Histidinemia 79181 Disease 210128 Urocanic aciduria 68385, 79181 Disease 2158 Histidinuria-renal tubular defect syndrome 79181 Disease 79185 Disorder of ornithine or proline metabolism 79062 Category 289866 Disorder of proline metabolism 79185 Category 419 Hyperprolinemia type 1 225689, 289866, 611314, 68385 Disease 79101 Hyperprolinemia type 2 225689, 289866, 68385 Disease 289869 Disorder of ornithine metabolism 79185 Category 414 Gyrate atrophy of choroid and retina 207018, 289869, 716348, 717317, 98644 Disease 79187 Disorder of peptide metabolism 79062 Category 1361 Carnosinase deficiency 447874, 79187 Biological anomaly 79190 Disorder of phenylalanin or tyrosine metabolism 79062 Category 284814 Disorder of phenylalanine metabolism 79190 Category 708881 Phenylalanine hydroxylase deficiency 284814 Clinical group 716 Phenylketonuria 225689, 68385, 708881 Disease 293284 Tetrahydrobiopterin-responsive phenylketonuria 716 Clinical subtype 708895 Tetrahydrobiopterin-unresponsive phenylketonuria 716 Clinical subtype 79651 Mild hyperphenylalaninemia 708881 Clinical subtype 284818 Disorder of tyrosine metabolism 79190 Category 56 Alkaptonuria 284818, 519296, 79217, 79387 Disease 2118 Hawkinsinuria 284818 Disease 3402 Transient tyrosinemia of the newborn 284818 Disease 882 Tyrosinemia type 1 101940, 183422, 207018, 284818, 506210, 506213, 93593 Disease 28378 Tyrosinemia type 2 284818, 519288, 522558, 611314, 98357 Disease 69723 Tyrosinemia type 3 284818 Disease 101150 Autosomal recessive dopa-responsive dystonia 255, 284818, 611314 Disease 79194 Disorder of serine or glycine metabolism 79062 Category 3129 Sarcosinemia 79194 Disease 407 Glycine encephalopathy 225689, 611314, 68385, 79194 Disease 289857 Neonatal glycine encephalopathy 407 Clinical subtype 289860 Infantile glycine encephalopathy 407 Clinical subtype 289863 Atypical glycine encephalopathy 407 Clinical subtype 35705 Neurometabolic disorder due to serine deficiency 68385, 79194 Category 447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome 35705, 611314 Disease 583595 Serine biosynthesis pathway deficiency, infantile/juvenile form 35705, 611314 Disease 79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form 583595 Etiological subtype 79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form 583595 Etiological subtype 284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form 583595 Etiological subtype 243343 Dimethylglycine dehydrogenase deficiency 79194 Disease 79196 Disorder of the gamma-glutamyl cycle 79062 Category 32 Glutathione synthetase deficiency 611314, 79196, 98370 Disease 289846 Glutathione synthetase deficiency with 5-oxoprolinuria 32 Clinical subtype 289849 Glutathione synthetase deficiency without 5-oxoprolinuria 32 Clinical subtype 33572 5-oxoprolinase deficiency 79196 Disease 33573 Gamma-glutamyl transpeptidase deficiency 79196 Disease 33574 Glutamate-cysteine ligase deficiency 79196, 98370 Disease 79197 Disorder of branched-chain amino acid metabolism 79062 Category 511 Maple syrup urine disease 611314, 79197 Disease 268145 Classic maple syrup urine disease 511 Clinical subtype 268162 Intermediate maple syrup urine disease 511 Clinical subtype 268173 Intermittent maple syrup urine disease 511 Clinical subtype 268184 Thiamine-responsive maple syrup urine disease 511 Clinical subtype 289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency 79197 Disease 308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency 225689, 79197 Disease 289829 Disorder of tryptophan metabolism 79062 Category 2224 Hypertryptophanemia 289829 Disease 79155 Hydroxykynureninuria 289829, 68385 Disease 289832 Disorder of lysine and hydroxylysine metabolism 79062 Category 2203 Hyperlysinemia 289832 Disease 3124 Saccharopinuria 289832 Disease 79154 2-aminoadipic 2-oxoadipic aciduria 289832 Disease 289841 Disorder of glutamine metabolism 79062 Category 557056 Spastic ataxia-dysarthria due to glutaminase deficiency 289841, 316240, 68385 Disease 557064 Neonatal epileptic encephalopathy due to glutaminase deficiency 225689, 289841, 68385 Disease 71278 Congenital brain dysgenesis due to glutamine synthetase deficiency 289841, 611314, 68385 Disease 289899 Organic aciduria 79062 Category 79158 Cerebral organic aciduria 289899 Category 653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency 79158 Disease 19 2-hydroxyglutaric aciduria 225689, 68385, 79158 Clinical group 79314 L-2-hydroxyglutaric aciduria 19, 611314 Disease 79315 D-2-hydroxyglutaric aciduria 19 Disease 356978 D,L-2-hydroxyglutaric aciduria 19 Disease 25 Glutaryl-CoA dehydrogenase deficiency 68385, 79158 Disease 308448 Aminoacylase deficiency 79158 Clinical group 141 Canavan disease 182070, 183500, 225689, 308448, 68356, 68385 Disease 314911 Severe Canavan disease 141 Clinical subtype 314918 Mild Canavan disease 141 Clinical subtype 137754 Aminoacylase 1 deficiency 308448, 611314, 68385 Disease 391417 HSD10 disease 611314, 68385, 79158 Disease 85295 HSD10 disease, atypical type 391417 Clinical subtype 391428 HSD10 disease, infantile type 391417 Clinical subtype 391457 HSD10 disease, neonatal type 391417 Clinical subtype 79163 Classic organic aciduria 289899 Category 33 Isovaleric acidemia 611314, 79163 Disease 148 Multiple carboxylase deficiency 79163, 79217, 79387 Clinical group 26 Methylmalonic acidemia with homocystinuria 611314, 79163, 79171, 98396 Disease 79282 Methylmalonic acidemia with homocystinuria, type cblC 207018, 26, 544458, 576742, 716405 Clinical subtype 79283 Methylmalonic acidemia with homocystinuria, type cblD 26 Clinical subtype 79284 Methylmalonic acidemia with homocystinuria type cblF 26 Clinical subtype 369955 Methylmalonic acidemia with homocystinuria, type cblJ 26 Clinical subtype 369962 Methylmalonic acidemia with homocystinuria, type cblX 26 Clinical subtype 134 Beta-ketothiolase deficiency 611314, 79163, 79183 Disease 939 3-hydroxyisobutyric aciduria 79163 Disease 20 3-hydroxy-3-methylglutaric aciduria 309115, 79163 Disease 6 3-methylcrotonyl-CoA carboxylase deficiency 79163 Disease 35 Propionic acidemia 79163 Disease 79157 2-methylbutyryl-CoA dehydrogenase deficiency 225689, 68385, 79163 Disease 88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency 611314, 68385, 79163 Disease 289504 Combined malonic and methylmalonic acidemia 611314, 79163 Disease 289902 3-methylglutaconic aciduria 79163 Clinical group 505208 3-methylglutaconic aciduria type 8 289902, 611314, 68385 Disease 67046 3-methylglutaconic aciduria type 1 289902, 611314 Disease 67047 3-methylglutaconic aciduria type 3 289902, 441434 Disease 67048 3-methylglutaconic aciduria type 4 289902, 98644 Disease 445038 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome 289902, 331184, 611314, 68385, 98644 Disease 505216 3-methylglutaconic aciduria type 9 225689, 289902, 611314, 68385 Disease 293355 Methylmalonic acidemia without homocystinuria 79163 Clinical group 27 Vitamin B12-unresponsive methylmalonic acidemia 293355, 506213, 611314, 93593 Disease 79312 Vitamin B12-unresponsive methylmalonic acidemia type mut- 27 Clinical subtype 289916 Vitamin B12-unresponsive methylmalonic acidemia type mut0 27 Clinical subtype 28 Vitamin B12-responsive methylmalonic acidemia 293355, 506213, 79171, 93593 Disease 79310 Vitamin B12-responsive methylmalonic acidemia type cblA 28 Clinical subtype 79311 Vitamin B12-responsive methylmalonic acidemia type cblB 28 Clinical subtype 308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv2 28 Clinical subtype 308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency 293355 Disease 308407 Disorder of beta and omega amino acid metabolism 79062 Category 2066 Gamma-aminobutyric acid transaminase deficiency 225707, 308407, 68385, 79175 Disease 352728 Disorder of melanin metabolism 79062 Category 55 Oculocutaneous albinism 183469, 352728, 79376, 98706 Clinical group 79432 Oculocutaneous albinism type 2 55 Disease 79433 Oculocutaneous albinism type 3 55 Disease 79435 Oculocutaneous albinism type 4 522520, 55, 98683 Disease 352731 Oculocutaneous albinism type 1 55 Disease 79431 Oculocutaneous albinism type 1A 352731 Clinical subtype 79434 Oculocutaneous albinism type 1B 352731, 522520, 98683 Clinical subtype 352734 Minimal pigment oculocutaneous albinism type 1 352731 Clinical subtype 352737 Temperature-sensitive oculocutaneous albinism type 1 352731 Clinical subtype 352745 Oculocutaneous albinism type 7 55 Disease 370091 Oculocutaneous albinism type 5 55 Disease 370097 Oculocutaneous albinism type 6 55 Disease 597733 Oculocutaneous albinism type 8 55 Disease 284804 Ocular albinism 352728, 98706 Clinical group 54 X-linked recessive ocular albinism 284804 Disease 391381 Disorder of asparagine metabolism 79062 Category 391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome 391381, 68385 Disease 79161 Disorder of carbohydrate metabolism 68367 Category 79177 Gluconeogenesis disorder 79161 Category 348 Fructose-1,6-bisphosphatase deficiency 308463, 79177 Disease 2880 Phosphoenolpyruvate carboxykinase deficiency 79177 Disease 3008 Pyruvate carboxylase deficiency 611314, 79177 Disease 353308 Pyruvate carboxylase deficiency, infantile type 3008 Clinical subtype 353314 Pyruvate carboxylase deficiency, severe neonatal type 3008 Clinical subtype 353320 Pyruvate carboxylase deficiency, benign type 3008 Clinical subtype 79179 Disorder of glycerol metabolism 79161 Category 308993 Glycerol kinase deficiency 79179 Clinical group 408 Isolated glycerol kinase deficiency 308993 Disease 284411 Glycerol kinase deficiency, juvenile form 408 Clinical subtype 284414 Glycerol kinase deficiency, adult form 408 Clinical subtype 79201 Glycogen storage disease 79161 Category 368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency 206959, 79201 Disease 369 Glycogen storage disease due to liver glycogen phosphorylase deficiency 101940, 79201 Disease 371 Glycogen storage disease due to muscle phosphofructokinase deficiency 206959, 79201, 98372 Disease 370 Glycogen storage disease due to phosphorylase kinase deficiency 79201 Clinical group 715 Glycogen storage disease due to muscle phosphorylase kinase deficiency 206959, 370 Disease 79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency 101940, 206959, 370 Disease 264580 Glycogen storage disease due to liver phosphorylase kinase deficiency 101940, 370 Disease 364 Glycogen storage disease due to glucose-6-phosphatase deficiency 101940, 506210, 79201, 93593 Disease 79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia 364 Clinical subtype 79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib 331184, 364 Clinical subtype 57 Glycogen storage disease due to aldolase A deficiency 79201, 98372 Disease 713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency 206959, 611314, 79201, 98372 Disease 2088 Fanconi-Bickel syndrome 101940, 79178, 79201, 93593 Disease 2364 Glycogen storage disease due to lactate dehydrogenase deficiency 79201 Disease 284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency 206959, 2364 Clinical subtype 284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency 2364 Clinical subtype 97234 Glycogen storage disease due to phosphoglycerate mutase deficiency 206959, 79201 Disease 99849 Glycogen storage disease due to muscle beta-enolase deficiency 206959, 79201 Disease 263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency 206959, 79201 Disease 308520 Glycogen storage disease due to glycogen synthase deficiency 79201 Clinical group 2089 Glycogen storage disease due to hepatic glycogen synthase deficiency 308520 Disease 456369 Polyglucosan body myopathy type 2 206959, 68385, 79201 Disease 308459 Disorder of glycolysis 79161 Category 868 Triose phosphate-isomerase deficiency 225696, 308459, 68385, 98372 Disease 712 Hemolytic anemia due to glucophosphate isomerase deficiency 308459, 98372 Disease 79299 Congenital glucokinase-related hyperinsulinism 165985, 308459 Disease 308463 Disorder of fructose metabolism 79161 Category 469 Hereditary fructose intolerance 101940, 104003, 308463, 309001, 506210, 93593 Disease 2056 Essential fructosuria 308463 Disease 308467 Disorder of galactose metabolism 79161 Category 352 Galactosemia 308467, 93593, 98644 Category 79237 Galactokinase deficiency 352 Disease 79238 Galactose epimerase deficiency 101940, 352 Disease 308473 Erythrocyte galactose epimerase deficiency 79238 Clinical subtype 308487 Generalized galactose epimerase deficiency 79238 Clinical subtype 79239 Classic galactosemia 101940, 352, 399853, 400022, 485382, 506210, 611314, 95710 Disease 570422 Galactose mutarotase deficiency 352 Disease 308998 Disorder of glyoxylate metabolism 79161 Category 941 D-glyceric aciduria 308998 Disease 416 Primary hyperoxaluria 308998, 506213, 716405, 93593 Disease 93599 Primary hyperoxaluria type 2 416 Clinical subtype 93600 Primary hyperoxaluria type 3 416 Clinical subtype 309001 Disorder of carbohydrate absorption and transport 79161 Category 35122 Congenital sucrase-isomaltase deficiency 104006, 309001 Disease 53690 Congenital lactase deficiency 104006, 309001 Disease 79178 Glucose transport disorder 309001 Category 35710 Glucose-galactose malabsorption 104003, 79178 Disease 69076 Familial renal glucosuria 79178, 93593 Disease 71277 Classic glucose transporter type 1 deficiency syndrome 225713, 68385, 693802, 79178 Disease 103907 Chronic diarrhea due to glucoamylase deficiency 104006, 309001 Disease 103909 Trehalase deficiency 104006, 309001 Disease 165991 Exercise-induced hyperinsulinism 165985, 309001 Disease 247794 Juvenile cataract-microcornea-renal glucosuria syndrome 309001, 522548, 93593, 98641 Disease 440701 Disorders of pentose/polyol metabolism 79161 Category 2843 Pentosuria 440701 Disease 79186 Disorder of pentose phosphate metabolism 440701 Category 101028 Transaldolase deficiency 79186 Disease 440706 Ribose-5-P isomerase deficiency 68356, 79186 Disease 440713 Isolated sedoheptulokinase deficiency 79186 Disease 79200 Disorder of energy metabolism 68367 Category 68380 Mitochondrial disease 79200 Category 223713 Mitochondrial oxidative phosphorylation disorder 68380 Category 2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies 223713 Category 527276 Encephalopathy due to mitochondrial and peroxisomal fission defect 207018, 2443, 611314, 68385 Disease 330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect 527276 Etiological subtype 485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect 527276 Etiological subtype 611237 Parkinsonism with polyneuropathy 207018, 2443, 306666, 307055 Disease 506 Leigh syndrome 225700, 225703, 2443, 68385, 98687 Disease 1561 Fatal infantile cytochrome C oxidase deficiency 2443, 611314 Disease 35656 Coenzyme Q10 deficiency 225700, 225703, 2443, 68385 Clinical group 139485 Autosomal recessive ataxia due to ubiquinone deficiency 1172, 35656, 611314 Disease 254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome 35656 Disease 658778 COQ7-related distal hereditary motor neuropathy 140468, 35656 Disease 35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis 2443 Category 2598 Mitochondrial myopathy and sideroblastic anemia 206966, 35696, 611314, 98362 Disease 99013 Spastic paraplegia type 7 183518, 320342, 320346, 35696, 441434 Disease 101109 Spinocerebellar ataxia type 28 35696, 94145 Disease 137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 101940, 35696 Disease 137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome 35696, 611314, 68356 Disease 137908 Hypotonia with lactic acidemia and hyperammonemia 35696 Disease 168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3 35696, 611314 Disease 217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 101939, 101940, 156604, 35696 Disease 238329 Severe X-linked mitochondrial encephalomyopathy 35696, 611314, 68385 Disease 254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome 316240, 35696 Disease 254920 Combined oxidative phosphorylation defect type 2 35696 Disease 254925 Combined oxidative phosphorylation defect type 4 35696 Disease 314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome 35696, 68356 Disease 314603 Autosomal recessive spastic ataxia with leukoencephalopathy 316240, 35696, 611314 Disease 319504 Combined oxidative phosphorylation defect type 8 35696 Disease 319509 Combined oxidative phosphorylation defect type 9 35696 Disease 319514 Combined oxidative phosphorylation defect type 13 35696 Disease 319519 Combined oxidative phosphorylation defect type 14 35696 Disease 319524 Combined oxidative phosphorylation defect type 15 35696 Disease 324535 Combined oxidative phosphorylation defect type 11 35696, 68385 Disease 363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome 183592, 275853, 35696, 506213, 93603 Disease 420728 Combined oxidative phosphorylation defect type 20 35696, 68385 Disease 420733 Combined oxidative phosphorylation defect type 21 35696, 68385 Disease 444458 Combined oxidative phosphorylation defect type 24 35696 Disease 565624 Combined oxidative phosphorylation defect type 39 35696, 611314, 68385 Disease 528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome 35696 Disease 478042 Combined oxidative phosphorylation defect type 30 35696, 68385 Disease 466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect 254830, 35696 Disease 477774 Combined oxidative phosphorylation defect type 27 35696, 611314, 68385 Disease 497623 C12ORF65-related combined oxidative phosphorylation defect 35696, 441434, 611314, 68385 Clinical group 254930 Combined oxidative phosphorylation defect type 7 497623 Disease 320375 Autosomal recessive spastic paraplegia type 55 431320, 497623 Disease 477684 Combined oxidative phosphorylation defect type 26 35696 Disease 466722 Autosomal recessive spastic paraplegia type 77 320346, 35696, 68385 Disease 478029 Combined oxidative phosphorylation defect type 29 182070, 183500, 35696 Disease 572798 WARS2-related combined oxidative phosphorylation defect 35696, 611314, 68385 Disease 199337 Pancreatic insufficiency-anemia-hyperostosis syndrome 101937, 165661, 2443, 293830 Disease 254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism 2443 Category 50812 Zellweger-like syndrome without peroxisomal anomalies 254822, 611314 Disease 67036 Autosomal dominant optic atrophy and cataract 254822, 98672 Disease 98673 Autosomal dominant optic atrophy, classic form 254822, 98672 Disease 166105 FASTKD2-related infantile mitochondrial encephalomyopathy 254822, 68385 Disease 227976 Autosomal recessive optic atrophy, OPA7 type 254822, 441434 Disease 250932 Autosomal dominant optic atrophy and peripheral neuropathy 254822, 98672 Disease 391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome 254822, 68385 Disease 436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy 207018, 254822, 68356, 68385 Disease 457050 Autosomal dominant mitochondrial myopathy with exercise intolerance 206966, 254822, 68385 Disease 309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes 2443 Category 1194 TMEM70-related mitochondrial encephalo-cardio-myopathy 309136, 611314 Disease 123 Björnstad syndrome 309136, 611314, 79367 Disease 53693 GRACILE syndrome 101940, 309136 Disease 254843 Exercise intolerance with lactic acidosis 309136 Clinical group 43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency 254843, 98486 Disease 254902 Renal tubulopathy-encephalopathy-liver failure syndrome 101940, 309136 Disease 289573 Multiple mitochondrial dysfunctions syndrome 309136, 401854, 68385 Clinical group 569290 Multiple mitochondrial dysfunctions syndrome type 6 182070, 183500, 289573 Disease 363424 Multiple mitochondrial dysfunctions syndrome type 3 289573 Disease 401869 Multiple mitochondrial dysfunctions syndrome type 1 289573 Disease 401874 Multiple mitochondrial dysfunctions syndrome type 2 289573 Disease 457406 Multiple mitochondrial dysfunctions syndrome type 4 182070, 183500, 289573, 441434, 68356 Disease 569274 Multiple mitochondrial dysfunctions syndrome type 5 182070, 183500, 289573 Disease 397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency 309136 Disease 352456 Mitochondrial DNA maintenance syndrome 2443 Category 35698 Mitochondrial DNA depletion syndrome 104013, 352456 Category 254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form 35698, 68385 Clinical group 1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria 254803, 611314 Disease 17 Fatal infantile lactic acidosis with methylmalonic aciduria 254803 Disease 255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy 254803, 611314 Disease 369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies 254803 Disease 254871 Mitochondrial DNA depletion syndrome, hepatocerebral form 101940, 35698 Clinical group 1186 Infantile-onset spinocerebellar ataxia 254871, 98098 Disease 726 Alpers-Huttenlocher syndrome 182070, 183500, 225700, 225703, 254871, 611314, 68385 Disease 255229 Navajo neurohepatopathy 254871 Disease 279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency 254871, 79191 Disease 363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form 183592, 254871, 506213, 68385, 93603 Disease 254875 Mitochondrial DNA depletion syndrome, myopathic form 206966, 35698, 68385, 79193 Disease 313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome 316240, 35698 Disease 254807 Multiple mitochondrial DNA deletion syndrome 352456 Category 1215 Autosomal dominant optic atrophy plus syndrome 140456, 254807, 98672 Disease 254818 Ataxia neuropathy spectrum 254807 Clinical group 70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome 206966, 225700, 225703, 254818 Disease 94125 Recessive mitochondrial ataxia syndrome 254818, 98096 Disease 254881 Spinocerebellar ataxia with epilepsy 254818 Disease 254886 Autosomal recessive progressive external ophthalmoplegia 254807, 520820, 68385 Disease 254892 Autosomal dominant progressive external ophthalmoplegia 254807, 520820, 68385 Disease 329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency 206966, 254807 Disease 352470 DNA2-related mitochondrial DNA deletion syndrome 206966, 254807 Disease 352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome 206966, 352456, 519347, 522522, 611314, 68385 Disease 391351 SURF1-related Charcot-Marie-Tooth disease type 4 2443, 64749 Disease 435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D 2443, 268337 Disease 70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type 225700, 225703, 2443, 68385, 98687 Disease 254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies 223713 Category 254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA 254758 Category 699 Pearson syndrome 104013, 181402, 254767, 98362 Disease 1670 Chronic diarrhea with villous atrophy 254767, 363300, 73014 Disease 254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA 254758 Category 104 Leber hereditary optic neuropathy 254776, 98671 Disease 644 NARP syndrome 225700, 225703, 254776, 611314, 68385, 716405 Disease 90641 Rare mitochondrial non-syndromic sensorineural deafness 254776, 87884 Etiological subtype 254788 Mitochondrial DNA-related mitochondrial myopathy 254776 Clinical group 2596 Myopathy and diabetes mellitus 181381, 183625, 206953, 254788 Disease 254854 Pure mitochondrial myopathy 254788 Disease 254857 Lethal infantile mitochondrial myopathy 254788 Disease 254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency 254788 Disease 254851 Mitochondrial DNA-related dystonia 254776 Disease 255210 Mitochondrial DNA-associated Leigh syndrome 254776, 68385 Disease 397750 Periodic paralysis with later-onset distal motor neuropathy 206976, 254776, 371433 Disease 620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation 183592, 254776, 506213, 93593, 93603 Disease 254846 Isolated oxidative phosphorylation complex disorder 223713 Category 2609 Isolated complex I deficiency 206966, 225700, 254846, 611314, 68385 Disease 3208 Isolated succinate-CoQ reductase deficiency 206966, 254846, 611314 Disease 1460 Isolated complex III deficiency 254846, 611314 Disease 254905 Isolated cytochrome C oxidase deficiency 254846, 611314 Disease 254913 Isolated ATP synthase deficiency 254846 Disease 254827 Mitochondrial membrane transport disorder 68380 Category 254830 Mitochondrial substrate carrier disorder 254827 Category 255132 Adult-onset autosomal recessive sideroblastic anemia 254830, 98362 Disease 353217 Epileptic encephalopathy with global cerebral demyelination 225700, 254830 Disease 254834 Mitochondrial protein import disorder 254827 Category 254837 Unspecified mitochondrial disorder 68380 Clinical group 502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome 183518, 206966, 254837, 611314 Disease 2802 X-linked sideroblastic anemia and spinocerebellar ataxia 247765, 254837, 98362 Disease 51188 Ethylmalonic encephalopathy 254837, 611314 Disease 98672 Autosomal dominant optic atrophy 254837, 98671 Clinical group 401854 Lipoic acid biosynthesis defect 68380 Category 2394 Pyruvate dehydrogenase E3 deficiency 401854, 765 Clinical subtype 401859 Lipoic acid synthetase deficiency 225700, 401854, 68385 Disease 401862 Lipoyl transferase 1 deficiency 401854 Disease 401866 Childhood-onset spasticity with hyperglycinemia 316226, 401854, 68385 Disease 447795 Lipoyl transferase 2 deficiency 225700, 401854, 68385 Biological anomaly 508093 MEPAN syndrome 182070, 183500, 391711, 401854, 441434, 68385 Malformation syndrome 79172 Creatine deficiency syndrome 225696, 79200 Clinical group 382 Guanidinoacetate methyltransferase deficiency 611314, 68385, 79172 Disease 35704 L-Arginine:glycine amidinotransferase deficiency 68385, 79172 Disease 79174 Disorder of fatty acid oxidation and ketone body metabolism 79200 Category 79183 Disorder of ketolysis 79174 Category 832 Succinyl-CoA:3-oxoacid CoA transferase deficiency 79183 Disease 309115 Disorder of fatty acid oxidation and ketogenesis 79174 Category 35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency 309115 Disease 309120 Acyl-CoA dehydrogenase deficiency 309115 Clinical group 42 Medium chain acyl-CoA dehydrogenase deficiency 309120 Disease 26792 Short chain acyl-CoA dehydrogenase deficiency 206953, 309120 Disease 329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency 309120 Disease 309127 3-hydroxyacyl-CoA dehydrogenase deficiency 309115 Clinical group 71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency 165985, 225696, 309127, 68385 Disease 309130 Disorder of carnitine cycle and carnitine transport 79174 Category 157 Carnitine palmitoyltransferase II deficiency 206953, 309130 Disease 228302 Carnitine palmitoyl transferase II deficiency, myopathic form 157 Clinical subtype 228305 Carnitine palmitoyl transferase II deficiency, severe infantile form 157 Clinical subtype 228308 Carnitine palmitoyl transferase II deficiency, neonatal form 157 Clinical subtype 156 Carnitine palmitoyl transferase 1A deficiency 309130 Disease 309133 Metabolic disease due to other fatty acid oxidation disorder 79174 Category 943 Malonic aciduria 309133 Disease 438072 Disorder of keton body transport 79174 Category 438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency 438072 Disease 254746 Pyruvate metabolism disorder 79200 Category 765 Pyruvate dehydrogenase deficiency 225700, 225703, 254746, 611314 Disease 79243 Pyruvate dehydrogenase E1-alpha deficiency 765 Clinical subtype 79244 Pyruvate dehydrogenase E2 deficiency 765 Clinical subtype 79246 Pyruvate dehydrogenase phosphatase deficiency 765 Clinical subtype 255138 Pyruvate dehydrogenase E1-beta deficiency 765 Clinical subtype 255182 Pyruvate dehydrogenase E3-binding protein deficiency 765 Clinical subtype 766 Hemolytic anemia due to red cell pyruvate kinase deficiency 254746, 98372 Disease 447784 Mitochondrial pyruvate carrier deficiency 254746, 68385 Disease 254749 Tricarboxylic acid cycle disorder 79200 Category 615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate 254749, 68385 Disease 31 Oxoglutaric aciduria 225700, 225703, 254749, 68385 Disease 24 Fumaric aciduria 225700, 225703, 254749, 68385 Disease 313850 Infantile cerebellar-retinal degeneration 182070, 183500, 254749, 441434, 68385, 716405 Disease 79214 Disorder of biogenic amine metabolism and transport 68367 Category 79169 Disorder of neurotransmitter metabolism and transport 79214 Category 3057 Monoamine oxidase A deficiency 611314, 68385, 79169 Disease 309819 Disorder of pterin metabolism 68385, 79169 Category 255 Dopa-responsive dystonia 309819, 391711 Clinical group 70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency 255, 611314 Disease 98808 Autosomal dominant dopa-responsive dystonia 255, 611314 Disease 238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency 309819 Disease 226 Dihydropteridine reductase deficiency 238583 Clinical subtype 13 6-pyruvoyl-tetrahydropterin synthase deficiency 238583 Clinical subtype 2102 GTP cyclohydrolase I deficiency 238583 Clinical subtype 1578 Pterin-4 alpha-carbinolamine dehydratase deficiency 238583 Clinical subtype 508523 Hyperphenylalaninemia due to DNAJC12 deficiency 309819, 391711 Disease 309830 Disorder of catecholamine synthesis 79169 Category 35708 Aromatic L-amino acid decarboxylase deficiency 309830, 68385 Disease 352649 Brain dopamine-serotonin vesicular transport disease 391711, 611314, 79169 Disease 79175 Disorder of gamma-aminobutyric acid metabolism 79214 Category 22 Succinic semialdehyde dehydrogenase deficiency 225707, 611314, 68385, 79175 Disease 79192 Disorder of pyridoxine metabolism 79214 Category 3006 Pyridoxine-dependent-developmental and epileptic encephalopathy 225707, 611314, 68385, 693802, 79192 Disease 79096 Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy 225707, 309833, 611314, 68385, 693802, 79192 Disease 79219 Metabolic disease involving other neurotransmitter deficiency 225707, 79214 Category 3197 Hereditary hyperekplexia 183521, 306773, 611314, 68385, 79219, 98747 Disease 132 Hereditary butyrylcholinesterase deficiency 79219 Disease 79097 Folinic acid-responsive seizures 68385, 79219 Disease 79224 Disorder of purine or pyrimidine metabolism 68367 Category 79191 Disorder of purine metabolism 79224 Category 45 Adenosine monophosphate deaminase deficiency 206966, 68385, 79191 Disease 760 Purine nucleoside phosphorylase deficiency 480549, 611314, 79191 Disease 3467 Hereditary xanthinuria 79191, 93593 Disease 93601 Xanthinuria type I 3467 Etiological subtype 93602 Xanthinuria type II 3467 Etiological subtype 46 Adenylosuccinate lyase deficiency 180772, 225713, 611314, 79191 Disease 976 Adenine phosphoribosyltransferase deficiency 506213, 79191, 93593 Disease 3222 Phosphoribosylpyrophosphate synthetase superactivity 611314, 79191, 93593 Disease 411536 Mild phosphoribosylpyrophosphate synthetase superactivity 3222 Clinical subtype 411543 Severe phosphoribosylpyrophosphate synthetase superactivity 3222 Clinical subtype 277 Severe combined immunodeficiency due to adenosine deaminase deficiency 317419, 79191 Disease 99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction 79191, 98374 Disease 206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency 506213, 611314, 68385, 79191, 93593, 98415 Clinical group 510 Lesch-Nyhan syndrome 206428 Disease 79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency 206428 Disease 250977 AICA-ribosiduria 611314, 716342, 79191 Disease 423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency 611314, 68385, 716405, 79191 Disease 457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement 182070, 183500, 225713, 68385, 79191 Disease 79193 Disorder of pyrimidine metabolism 79224 Category 30 Hereditary orotic aciduria 611314, 79193, 98415 Disease 1675 Dihydropyrimidine dehydrogenase deficiency 79193 Disease 35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 79193, 98374 Disease 38874 Dihydropyrimidinuria 79193 Disease 65287 Beta-ureidopropionase deficiency 225707, 68385, 79193 Disease 309147 Hyper-beta-alaninemia 225689, 79193 Disease 91088 Other metabolic disease 68367 Category 657 Congenital isolated hyperinsulinism 276525, 91088 Clinical group 165985 Diazoxide-sensitive diffuse hyperinsulinism 657 Clinical group 263455 Congenital hyperinsulinism due to HNF4A deficiency 165985 Disease 276556 Hyperinsulinism due to UCP2 deficiency 165985 Disease 276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency 165985 Disease 276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency 165985 Disease 324575 Hyperinsulinism due to HNF1A deficiency 165985 Disease 276585 Diazoxide-resistant hyperinsulinism 657 Clinical group 79298 Diazoxide-resistant focal hyperinsulinism 276585 Clinical group 276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency 79298 Disease 276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency 79298 Disease 165988 Diazoxide-resistant diffuse hyperinsulinism 276585 Clinical group 79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency 165988 Disease 79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency 165988, 611314 Disease 289877 Transient hyperammonemia of the newborn 91088 Particular clinical situation in a disease or syndrome 60 Alpha-1-antitrypsin deficiency 101940, 101944, 156610, 250808, 506210, 91088, 93593 Disease 714 Hemolytic anemia due to diphosphoglycerate mutase deficiency 91088, 98372 Disease 79507 Hypotonia-failure to thrive-microcephaly syndrome 91088 Disease 99845 Genetic recurrent myoglobinuria 206953, 352312, 91088 Disease 99846 Autosomal dominant myoglobinuria 206953, 91088 Disease 404454 Alacrimia-choreoathetosis-liver dysfunction syndrome 183484, 281244, 611314, 79382, 91088, 98604 Disease 555402 NAD(P)HX dehydratase deficiency 182070, 183500, 68385, 91088 Disease 555407 NAD(P)HX epimerase deficiency 182070, 183500, 68385, 91088 Disease 309005 Disorder of lipid metabolism 68367 Category 79226 Sterol metabolism disorder 309005 Category 79168 Disorder of bile acid synthesis 79226 Category 84065 Idiopathic malabsorption due to bile acid synthesis defects 104005, 79168 Disease 163631 Bile acid synthesis defect with cholestasis and malabsorption 284385, 506210, 79168 Category 485631 Congenital bile acid synthesis defect 163631 Clinical group 79301 Congenital bile acid synthesis defect type 1 485631 Disease 79302 Congenital bile acid synthesis defect type 3 485631 Disease 79303 Congenital bile acid synthesis defect type 2 485631 Disease 909 Cerebrotendinous xanthomatosis 163631, 181437, 183484, 207018, 225710, 611314, 68356, 68385, 79382, 98096, 98544, 98644 Disease 238475 Familial hypercholanemia 163631 Disease 276066 Bile acid CoA ligase deficiency and defective amidation 163631 Disease 209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency 477811, 79168 Disease 101953 Rare dyslipidemia 156638, 309005, 97978 Category 181422 Rare hyperlipidemia 101953 Category 412 Dysbetalipoproteinemia 181422 Disease 181428 Familial Hyperalphalipoproteinemia 181422 Biological anomaly 444490 Familial chylomicronemia syndrome 181422 Disease 309015 Familial lipoprotein lipase deficiency 444490 Etiological subtype 309020 Familial apolipoprotein C-II deficiency 444490 Etiological subtype 535453 Familial lipase maturation factor 1 deficiency 444490 Etiological subtype 535458 Familial GPIHBP1 deficiency 444490 Etiological subtype 530849 Familial apolipoprotein A5 deficiency 444490 Etiological subtype 140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency 181422 Disease 477811 Rare hypercholesterolemia 181422 Category 391665 Homozygous familial hypercholesterolemia 477811 Disease 181431 Rare hypolipidemia 101953 Category 31153 Hypoalphalipoproteinemia 181431 Clinical group 650 LCAT deficiency 31153, 506213, 93593, 98628 Disease 79292 Fish-eye disease 650 Clinical subtype 79293 Familial LCAT deficiency 182043, 650 Clinical subtype 425 Apolipoprotein A-I deficiency 31153 Disease 31150 Tangier disease 207018, 207021, 31153, 68385 Disease 31154 Hypobetalipoproteinemia 181431 Clinical group 14 Abetalipoproteinemia 104005, 207018, 31154, 363306, 68385, 716405, 98096, 98366, 98644 Disease 71 Chylomicron retention disease 104005, 31154, 363306 Disease 181437 Rare syndromic dyslipidemia 101953 Category 2882 Sitosterolemia 181437 Disease 329481 Lipoprotein glomerulopathy 181437, 183586, 93548 Disease 309028 Disorder of lipid absorption and transport 101937, 165661, 309005 Category 309031 Pancreatic triacylglycerol lipase deficiency 309028 Disease 309108 Pancreatic colipase deficiency 309028 Disease 309111 Combined pancreatic lipase-colipase deficiency 309028 Disease 352301 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis 309005 Category 352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement 352301 Category 615938 Spastic paraparesis-cataracts-speech delay syndrome 100979, 352306, 68385, 98644 Clinical syndrome 506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction 100981, 352306, 611314 Disease 816 Sjögren-Larsson syndrome 281238, 352306, 611314, 68385, 716427 Disease 139480 Autosomal recessive spastic paraplegia type 39 100981, 352306 Disease 157850 Pantothenate kinase-associated neurodegeneration 263440, 309833, 352306, 385, 716405 Disease 216866 Classic pantothenate kinase-associated neurodegeneration 157850 Clinical subtype 216873 Atypical pantothenate kinase-associated neurodegeneration 157850 Clinical subtype 329303 PLA2G6-associated neurodegeneration 352306, 385 Clinical group 35069 Infantile neuroaxonal dystrophy 329303, 98497 Disease 199351 Adult-onset dystonia-parkinsonism 306666, 307055, 329303, 391711 Disease 329308 Fatty acid hydroxylase-associated neurodegeneration 100981, 352306, 385, 441434 Disease 352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome 281238, 352306, 611314, 68385 Disease 423296 Spinocerebellar ataxia type 38 352306, 94148 Disease 424027 Progressive myoclonic epilepsy type 8 352306, 98261 Disease 431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency 352306, 68356, 68385 Disease 352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement 352301 Category 36386 Hereditary sensory and autonomic neuropathy type 1 140474, 352309 Disease 352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement 352301 Category 165 Neutral lipid storage disease 206953, 352312 Clinical group 98907 Neutral lipid storage disease with ichthyosis 165, 281244, 611314, 98644 Disease 98908 Neutral lipid storage disease with myopathy 165 Disease 280671 Megaconial congenital muscular dystrophy 352312, 97242 Disease 506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency 352301, 567562, 595337 Disease 309340 Disorder of lysosomal-related organelles 68367 Category 167 Chédiak-Higashi syndrome 182070, 183494, 183500, 207015, 284811, 309340, 331249, 79391, 98456 Disease 79430 Hermansky-Pudlak syndrome 284811, 309340, 98456 Disease 183678 Hermansky-Pudlak syndrome due to AP-3 deficiency 331184, 331249, 79430 Clinical subtype 664500 Hermansky-Pudlak syndrome due to AP3B1 deficiency 183678 Clinical subtype 664511 Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency 183678, 611314 Clinical subtype 231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency 264719, 79430 Clinical subtype 231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency 79430 Clinical subtype 231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency 79430 Clinical subtype 309813 Disorder of porphyrin and heme metabolism 68367 Category 738 Porphyria 183490, 309813, 79387, 79390, 93593 Clinical group 659681 Erythropoietic porphyria 738 Clinical group 79277 Congenital erythropoietic porphyria 659681, 98369 Disease 79278 Autosomal erythropoietic protoporphyria 659681, 98369 Disease 443197 X-linked erythropoietic protoporphyria 659681 Disease 280379 Erythropoietic uroporphyria associated with myeloid malignancy 659681 Disease 95159 Hepatoerythropoietic porphyria 659681 Disease 659672 Harderoporphyria 659681, 98369 Disease 659694 Hepatic porphyria 101940, 738 Clinical group 95157 Acute hepatic porphyria 207018, 506210, 659694 Clinical group 79273 Hereditary coproporphyria 95157 Disease 79276 Acute intermittent porphyria 95157 Disease 79473 Variegate porphyria 95157 Disease 100924 Porphyria due to ALA dehydratase deficiency 95157 Disease 659698 Hepatic cutaneous porphyria 659694 Clinical group 101330 Porphyria cutanea tarda 659698 Disease 443057 Sporadic porphyria cutanea tarda 101330 Clinical subtype 443062 Familial porphyria cutanea tarda 101330 Clinical subtype 75563 X-linked sideroblastic anemia 309813, 98362 Disease 309816 Disorder of bilirubin metabolism and excretion 309813 Category 205 Crigler-Najjar syndrome 101940, 309816, 506210 Disease 79234 Crigler-Najjar syndrome type 1 205 Clinical subtype 79235 Crigler-Najjar syndrome type 2 205 Clinical subtype 234 Dubin-Johnson syndrome 101940, 309816 Disease 3111 Rotor syndrome 101940, 309816 Disease 172 Progressive familial intrahepatic cholestasis 284385, 309816, 506210 Disease 79304 Progressive familial intrahepatic cholestasis type 2 172 Clinical subtype 79305 Progressive familial intrahepatic cholestasis type 3 172 Clinical subtype 79306 Progressive familial intrahepatic cholestasis type 1 172 Clinical subtype 480483 Progressive familial intrahepatic cholestasis type 4 172 Clinical subtype 480491 MYO5B-related progressive familial intrahepatic cholestasis 172 Clinical subtype 480476 Progressive familial intrahepatic cholestasis type 5 172 Clinical subtype 168583 Hereditary North American Indian childhood cirrhosis 172 Clinical subtype 65682 Benign recurrent intrahepatic cholestasis 284385, 309816 Disease 99960 Benign recurrent intrahepatic cholestasis type 1 65682 Clinical subtype 99961 Benign recurrent intrahepatic cholestasis type 2 65682 Clinical subtype 415286 Bilirubin encephalopathy 309816, 68385 Clinical group 529799 Acute bilirubin encephalopathy 415286 Clinical syndrome 529808 Chronic bilirubin encephalopathy 415286 Clinical syndrome 562509 Heme oxygenase-1 deficiency 309813 Disease 309824 Disorder of metabolite absorption and transport 68367 Category 309827 Disorder of vitamin and non-protein cofactor absorption and transport 309824 Category 79171 Disorder of cobalamin metabolism and transport 309827 Category 859 Transcobalamin deficiency 331217, 79171, 98396 Disease 2967 Transcobalamin I deficiency 79171 Disease 332 Congenital intrinsic factor deficiency 79171, 98396 Disease 35858 Imerslund-Gräsbeck syndrome 104004, 79171, 93593, 98396 Disease 280183 Methylmalonic aciduria due to transcobalamin receptor defect 79171 Biological anomaly 285657 Disorder of folate metabolism and transport 309827 Category 597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome 225713, 285657, 611314, 68356, 68385 Disease 658813 Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency 285657, 98408 Disease 661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency 285657, 331217, 98408 Disease 395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency 207018, 225713, 285657 Disease 51208 Formiminoglutamic aciduria 285657, 98408 Disease 90045 Hereditary folate malabsorption 104004, 285657, 331217, 611314, 98408 Disease 217382 Neurodegenerative syndrome due to cerebral folate transport deficiency 182070, 183500, 225713, 285657, 68385 Disease 319651 Constitutional megaloblastic anemia with severe neurologic disease 225713, 285657, 98408 Disease 298644 Disorder of thiamine metabolism and transport 309827 Category 217396 Progressive polyneuropathy with bilateral striatal necrosis 298644, 68385 Disease 65284 Biotin-thiamine-responsive basal ganglia disease 298644, 68385 Disease 199348 Thiamine-responsive encephalopathy 166472, 298644 Disease 263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome 298644, 611314 Disease 293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency 298644 Disease 309833 Disorder of other vitamins and cofactors metabolism and transport 309827 Category 96 Ataxia with vitamin E deficiency 207018, 309833, 68385, 716405, 98096 Disease 79241 Biotinidase deficiency 207018, 309833 Disease 98434 Hereditary combined deficiency of vitamin K-dependent clotting factors 169826, 309833 Disease 199285 Hereditary hypercarotenemia and vitamin A deficiency 309833 Disease 352718 Progressive retinal dystrophy due to retinol transport defect 309833, 716410, 717324 Disease 411712 Maternal riboflavin deficiency 309833 Disease 79242 Holocarboxylase synthetase deficiency 309833 Disease 521268 Sodium-dependent multivitamin transporter deficiency 207018, 309833 Disease 309836 Disorder of mineral absorption and transport 309824 Category 309839 Disorder of copper metabolism 309836 Category 905 Wilson disease 101940, 207018, 225692, 306712, 307061, 309839, 370106, 506210, 68385, 93593, 98033, 98687 Disease 565 Menkes disease 225692, 309839, 611314, 68385, 79367 Disease 1551 Familial benign copper deficiency 309839 Disease 139557 X-linked distal spinal muscular atrophy type 3 309839, 404538 Disease 300313 Congenital cataract-hearing loss-severe developmental delay syndrome 309839, 522548, 611314, 68385, 98641 Disease 48818 Aceruloplasminemia 309839, 309842, 385, 716405, 98360 Disease 521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect 309839, 91024 Disease 309842 Disorder of iron metabolism and transport 309836 Category 446 Neonatal hemochromatosis 101940, 309842, 506210 Disease 1195 Congenital atransferrinemia 309842, 98360 Disease 83642 Microcytic anemia with liver iron overload 309842, 98360 Disease 139507 Dietary iron overload disease 101940, 309842 Disease 157846 Neuroferritinopathy 158266, 309842, 385 Disease 220489 Rare hereditary hemochromatosis 101940, 309842, 506210 Category 465508 Symptomatic form of HFE-related hemochromatosis 220489 Disease 648569 Non-HFE-related hemochromatosis 220489 Clinical group 225123 TFR2-related hemochromatosis 648569 Disease 647834 SLC40A1-related hemochromatosis 648569 Disease 79230 HJV or HAMP-related hemochromatosis 648569 Disease 648581 Digenic hemochromatosis 220489 Disease 247790 FTH1-related iron overload 101940, 309842 Disease 440731 L-ferritin deficiency 158300, 309842, 97992 Biological anomaly 163 Hereditary hyperferritinemia-cataract syndrome 309842, 522548, 98641 Disease 648562 Ferroportin disease 101940, 309842 Disease 309845 Disorder of zinc metabolism and transport 309836 Category 505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome 182070, 183500, 183592, 309845, 93603, 98688 Disease 251523 Hyperzincemia and hypercalprotectinemia 290842, 309845, 324927, 324942, 619238, 622720, 79387 Disease 309848 Disorder of magnesium transport 309836 Category 30924 Primary hypomagnesemia with secondary hypocalcemia 183592, 309848, 93603 Disease 34528 Autosomal dominant primary hypomagnesemia with hypocalciuria 183592, 309848, 93603 Disease 199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type 183592, 309848, 93603 Disease 564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome 166472, 183592, 309848, 611314, 93603 Disease 620368 EGF-related primary hypomagnesemia with intellectual disability 183592, 309848, 93603 Disease 306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis 183592, 309848, 506213, 93603 Disease 2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement 306516, 716405 Clinical subtype 31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement 306516 Clinical subtype 309851 Disorder of manganese transport 309836 Category 309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome 101940, 306666, 307055, 309851 Disease 521406 Dystonia-parkinsonism-hypermanganesemia syndrome 309851, 391711, 611314 Disease 97935 Rare gastroenterologic disease Category 101936 Rare gastroesophageal disease 97935 Category 231080 High-grade dysplasia in patients with Barrett esophagus 101936 Particular clinical situation in a disease or syndrome 930 Idiopathic achalasia 101936 Disease 2494 Ménétrier disease 101936 Disease 2070 Eosinophilic gastroenteritis 101936, 402029 Disease 2198 Palmoplantar keratoderma-esophageal carcinoma syndrome 101936, 140162, 165658, 98353 Disease 2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome 101936, 165658 Disease 54028 Plummer-Vinson syndrome 101936, 248302 Disease 71272 Sandifer syndrome 101936, 306768 Disease 180821 Rare gastroesophageal tumor 101936, 98059 Category 63443 Rare epithelial tumor of stomach 180821 Category 100075 Neuroendocrine tumor of stomach 481508, 63443 Disease 423771 Rare carcinoma of stomach 63443 Category 36273 Gastric linitis plastica 423771 Disease 313920 Epstein-Barr virus-associated gastric carcinoma 289651, 423771 Disease 418959 Squamous cell carcinoma of the stomach 423771 Disease 423776 Hereditary gastric cancer 423771 Category 26106 Hereditary diffuse gastric cancer 165658, 271835, 423776 Disease 314022 Gastric adenocarcinoma and proximal polyposis of the stomach 423776 Disease 423786 Undifferentiated carcinoma of stomach 423771 Disease 464756 Familial gastric type 1 neuroendocrine tumor 63443 Disease 70482 Carcinoma of esophagus 180821 Clinical group 99976 Adenocarcinoma of the oesophagus and oesophagogastric junction 70482 Disease 99977 Squamous cell carcinoma of the esophagus 70482 Disease 418945 Carcinoma of esophagus, salivary gland type 70482 Disease 418951 Undifferentiated carcinoma of esophagus 70482 Disease 506136 Neuroendocrine neoplasm of esophagus 180821, 481508 Disease 329883 Non-hypoproteinemic hypertrophic gastropathy 101936 Disease 401945 Moyamoya disease with early-onset achalasia 101936, 165658, 477771 Disease 558411 Idiopathic gastroparesis 101936 Disease 2069 Gastrocutaneous syndrome 101936, 165658, 183466, 79375 Disease 487809 Pediatric collagenous gastritis 101936 Disease 101937 Rare pancreatic disease 97935 Category 586 Cystic fibrosis 101937, 101941, 101944, 156607, 156610, 165661, 399824, 400003, 506210, 506222 Disease 676 Autosomal dominant hereditary chronic pancreatitis 101937, 165661, 181381, 183625 Disease 103918 Tropical pancreatitis 101937 Disease 103919 Autoimmune pancreatitis 101937 Clinical group 280302 Autoimmune pancreatitis type 1 103919, 596448 Clinical subtype 280315 Autoimmune pancreatitis type 2 103919 Disease 180824 Rare tumor of pancreas 101937, 98059 Category 424033 Rare epithelial tumor of pancreas 180824 Category 677 Pancreatoblastoma 424033 Disease 506052 Neuroendocrine neoplasm of pancreas 100092, 424033 Category 97253 Neuroendocrine tumor of pancreas 506052 Category 506060 Functioning neuroendocrine tumor of pancreas 97253 Category 913 Zollinger-Ellison syndrome 100076, 506060 Disease 97261 GRFoma 506060 Disease 97278 PPoma 506060 Disease 97279 Insulinoma 506060 Disease 97280 Glucagonoma 506060 Disease 97282 VIPoma 506060 Disease 97283 Somatostatinoma 100076, 100077, 506060 Disease 99889 Cushing syndrome due to ectopic ACTH secretion 506060, 99892 Disease 506090 Serotonin-producing neuroendocrine tumor of pancreas 506060 Disease 506075 Non-functioning neuroendocrine tumor of pancreas 97253 Disease 506098 Neuroendocrine carcinoma of pancreas 506052 Disease 506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas 506052 Disease 217074 Rare carcinoma of pancreas 424033 Category 1333 Familial pancreatic carcinoma 165661, 217074 Disease 424039 Squamous cell carcinoma of pancreas 217074 Disease 424046 Acinar cell carcinoma of pancreas 217074 Disease 424053 Mucinous cystadenocarcinoma of the pancreas 217074 Disease 424058 Intraductal papillary mucinous carcinoma of pancreas 217074 Disease 424065 Pancreatic solid pseudopapillary neoplasm 217074 Disease 424073 Serous cystadenocarcinoma of pancreas 217074 Disease 424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas 217074 Disease 93292 Adenoma of pancreas 165711, 424033 Disease 580572 Intraductal tubulopapillary neoplasm of pancreas 424033 Disease 438274 GCGR-related hyperglucagonemia 165711, 180824 Disease 300552 Follicular cholangitis and pancreatitis 101937, 101941 Disease 313906 Congenital pancreatic cyst 101937, 506216 Morphological anomaly 697132 Lymphoepithelial cyst of the pancreas 101937 Disease 700133 Idiopathic chronic pancreatitis 101937 Disease 700136 Early-onset idiopathic chronic pancreatitis 700133 Clinical subtype 700139 Late-onset idiopathic chronic pancreatitis 700133 Clinical subtype 700124 Autosomal recessive hereditary chronic pancreatitis 101937, 165661 Disease 695131 Acinar cystic transformation of the pancreas 101937 Disease 117569 Rare intestinal disease 97935 Category 3452 Whipple disease 117569, 163582, 183710, 306753 Disease 556 Malakoplakia 117569 Disease 36204 Intestinal lymphangiectasia 117569 Clinical group 90362 Primary intestinal lymphangiectasia 165655, 36204 Disease 90363 Secondary intestinal lymphangiectasia 36204 Disease 566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome 165655, 36204 Disease 70475 Radiation proctitis 117569, 521132 Disease 73014 Intractable diarrhea of infancy 117569, 506216 Category 2290 Microvillus inclusion disease 104007, 363300, 73014 Disease 84064 Trichohepatoenteric syndrome 101939, 156604, 363300, 477647, 481671, 717865, 73014 Disease 92050 Congenital tufting enteropathy 104007, 363300, 717865, 73014 Disease 329242 Congenital chronic diarrhea with protein-losing enteropathy 363300, 73014 Disease 103908 Congenital sodium diarrhea 104003, 363300, 717851, 73014 Disease 563708 Syndromic congenital sodium diarrhea 104003, 363300, 73014 Disease 522037 Primary autoimmune enteropathy 73014, 94075 Disease 522043 Syndromic autoimmune enteropathy 363300, 73014, 94075 Clinical group 37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome 101956, 169355, 183643, 522043 Disease 436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency 169355, 522043, 664450 Disease 391487 STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome 101956, 169355, 183643, 183710, 522043, 664450 Disease 169100 Immunodeficiency due to CD25 deficiency 169355, 522043 Disease 438159 STAT3-related early-onset multisystem autoimmune disease 169355, 182228, 280373, 522043, 664450, 71203, 98375 Disease 220465 Laron syndrome with immunodeficiency 181393, 331217, 522043 Disease 3453 Autoimmune polyendocrinopathy type 1 101960, 169355, 181405, 183643, 208593, 282196, 399853, 522043, 522548, 664450, 95709, 98641 Disease 445018 Syndromic autoimmune enteropathy due to LRBA deficiency 101956, 183643, 480549, 522043 Disease 94075 Severe immune-mediated enteropathy 117569 Category 572 Immunodeficiency by defective expression of MHC class II 480549, 94075 Disease 397959 TCR-alpha-beta-positive T-cell deficiency 480549, 94075 Disease 280142 Combined immunodeficiency due to LCK deficiency 317419, 94075 Disease 104003 Congenital intestinal transport defect 117569, 165655, 506216 Category 53689 Congenital chloride diarrhea 104003, 717851 Disease 104004 Intestinal disease due to vitamin absorption anomaly 117569, 165655 Category 104005 Intestinal disease due to fat malabsorption 117569 Category 104006 Congenital intestinal disease due to an enzymatic defect 117569, 165655 Category 168601 Congenital enteropathy due to enteropeptidase deficiency 104006 Disease 104007 Congenital enteropathy involving intestinal mucosa development 117569, 165655, 506216 Category 83620 Enteric anendocrinosis 104007 Disease 103910 Congenital enterocyte heparan sulfate deficiency 104007 Disease 104008 Short bowel syndrome 117569, 506216 Clinical group 95427 Secondary short bowel syndrome 104008 Disease 365563 Primary short bowel syndrome 104008, 165655 Clinical group 104009 Rare disease involving intestinal motility 117569, 165655, 506216 Category 388 Hirschsprung disease 104009 Disease 2604 Familial visceral myopathy 104009 Disease 2978 Chronic intestinal pseudoobstruction syndrome 104009 Clinical syndrome 99811 Neuronal intestinal pseudoobstruction 2978 Etiological subtype 104077 Myopathic intestinal pseudoobstruction 2978 Etiological subtype 104078 Unclassified intestinal pseudoobstruction 2978 Etiological subtype 314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity 104009, 717865 Disease 314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency 104009 Disease 404463 Multisystemic smooth muscle dysfunction syndrome 101433, 104009, 156619, 183503, 275853, 285014, 519286, 522568, 71281 Disease 2151 Hirschsprung disease-ganglioneuroblastoma syndrome 104009, 519286, 522568 Malformation syndrome 104011 Rare tumor of intestine 117569, 506216, 98059 Category 423793 Rare tumor of small intestine 104011 Category 652658 Monomorphic epitheliotropic intestinal T-cell lymphoma 171918, 423793 Disease 86880 Enteropathy-associated T-cell lymphoma 171918, 423793 Disease 423798 Mesenchymal tumor of small intestine 423793 Category 44890 Gastrointestinal stromal tumor 271835, 423798 Disease 104076 Leiomyosarcoma of small intestine 423798 Disease 425368 Rare epithelial tumor of small intestine 423793 Category 423957 Rare carcinoma of small intestine 425368 Category 104075 Adenocarcinoma of the small intestine 423957 Disease 423968 Squamous cell carcinoma of the small intestine 423957 Disease 423975 Neuroendocrine tumor of the small intestine 425368, 481508 Category 100076 Duodenal neuroendocrine tumor 423975 Category 100077 Jejunal neuroendocrine tumor 423975 Category 100078 Ileal neuroendocrine tumor 423975 Disease 423982 Epithelial tumor of the appendix 104011 Category 100079 Neuroendocrine neoplasm of appendix 423982, 481508 Disease 329977 Classic neuroendocrine tumor of appendix 100079 Clinical subtype 329984 Goblet cell carcinoma 100079 Clinical subtype 391723 Mucinous adenocarcinoma of the appendix 423982 Disease 423991 Rare epithelial tumor of colon 104011 Category 100080 Neuroendocrine tumor of the colon 423991, 481508 Disease 423994 Squamous cell carcinoma of the colon 423991 Disease 423998 Rare epithelial tumor of rectum 104011 Category 100081 Neuroendocrine tumor of the rectum 423998, 481508 Disease 424002 Squamous cell carcinoma of the rectum 423998 Disease 424010 Epithelial tumor of anal canal 104011 Category 100082 Neuroendocrine tumor of anal canal 424010, 481508 Disease 424013 Carcinoma of the anal canal 424010 Clinical group 424016 Adenocarcinoma of the anal canal 424013 Disease 424019 Squamous cell carcinoma of the anal canal 424013 Disease 104012 Rare inflammatory bowel disease 117569, 506216 Category 717851 Rare non-syndromic inflammatory bowel disease 104012 Clinical group 468641 Chronic enteropathy associated with SLCO2A1 gene 165655, 717851 Disease 597201 TRIM22-related inflammatory bowel disease 165655, 717851 Disease 477661 IL21-related infantile inflammatory bowel disease 165655, 695164, 717851 Disease 597887 ALPI-related inflammatory bowel disease 165655, 717851 Disease 714410 CARD8-related inflammatory bowel disease 165655, 717851 Disease 714481 SCGN-related severe early-onset hereditary ulcerative colitis 165655, 717851 Disease 714484 AGR2-related infantile-onset inflammatory bowel disease 165655, 717851 Disease 714490 PERCC1-related congenital intractable malabsorptive diarrhea 165655, 717851 Disease 717862 Rare disorder with inflammatory bowel disease 104012 Category 717865 Rare congenital-chronic-intractable diarrhea with inflammatory bowel disease 717862 Category 714487 Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome 717865 Disease 2881 Cutaneous photosensitivity-lethal colitis syndrome 717865 Disease 717757 Rare immune disease with inflammatory bowel disease 717862 Category 714423 Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome 717757 Disease 714496 Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome 717757 Disease 714477 Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome 717757 Disease 714493 Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency 717757 Disease 714472 Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome 717757 Disease 717868 Rare skin disease with inflammatory bowel disease 717862 Category 717871 Rare systemic or rheumatologic diseases with inflammatory bowel disease 717862 Category 717874 Rare inborn error of metabolism with inflammatory bowel disease 717862 Category 717877 Rare miscellaneous disease with inflammatory bowel disease 717862 Category 104013 Metabolic disease with intestinal involvement 117569, 165655 Category 371188 Congenital disorder of glycosylation with intestinal involvement 104013 Category 209964 Solitary rectal ulcer syndrome 117569 Disease 294422 Chronic intestinal failure 117569, 506216 Clinical syndrome 397606 PrP systemic amyloidosis 117569, 140474, 280400 Disease 398063 Refractory celiac disease 117569 Disease 436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome 117569, 290842, 324924, 622720 Disease 565641 Primary desmosis coli 117569 Disease 583861 Isolated mesenteric vein thrombosis 117569 Disease 622099 Superior mesenteric artery syndrome 117569, 165711 Disease 645793 Spontaneous intestinal perforation 117569, 165711 Disease 160148 Cap polyposis 117569 Disease 217067 Pouchitis 117569 Particular clinical situation in a disease or syndrome 228113 Anal fistula 117569, 165711 Particular clinical situation in a disease or syndrome 238621 Ileal pouch anal anastomosis related faecal incontinence 117569 Particular clinical situation in a disease or syndrome 468635 Cryptogenic multifocal ulcerous stenosing enteritis 117569, 165655, 506216 Disease 477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder 117569, 165655, 275736 Disease 3130 Satoyoshi syndrome 117569, 182228, 79364, 95710 Disease 391673 Necrotizing enterocolitis 117569 Disease 263665 NK-cell enteropathy 97935 Disease 276142 Rare tumor of salivary glands 290849, 97935, 98059 Category 276145 Malignant epithelial tumor of salivary glands 276142 Disease 276148 Benign epithelial tumor of salivary glands 276142 Disease 300557 Carcinoma of the ampulla of Vater 97935, 98059 Disease 402029 Primary eosinophilic gastrointestinal disease 97935 Clinical group 402035 Eosinophilic colitis 402029 Disease 425003 Inherited digestive cancer-predisposing syndrome 140162, 97935 Category 99361 Isolated familial medullary thyroid carcinoma 100088, 425003 Disease 652 Multiple endocrine neoplasia type 1 100091, 2207, 276161, 314749, 425003 Disease 653 Multiple endocrine neoplasia type 2 100088, 276161, 425003 Disease 247698 Multiple endocrine neoplasia type 2A 100091, 653 Clinical subtype 247709 Multiple endocrine neoplasia type 2B 100091, 653 Clinical subtype 104010 Intestinal polyposis syndrome 425003, 506216 Clinical group 247798 MUTYH-related polyposis 104010 Disease 447877 Polymerase proofreading-related polyposis 104010 Disease 454840 NTHL1-related polyposis 104010 Disease 480536 MSH3-related polyposis 104010 Disease 733 Familial adenomatous polyposis 104010, 271835, 363314, 716393 Disease 2929 Juvenile polyposis syndrome 104010, 363314 Disease 329971 Generalized juvenile polyposis/juvenile polyposis coli 2929 Clinical subtype 157794 Hereditary mixed polyposis syndrome 104010, 363314 Disease 157798 Serrated polyposis syndrome 104010, 363314 Disease 220460 Attenuated familial adenomatous polyposis 104010, 271835, 363314 Disease 443909 Hereditary nonpolyposis colon cancer 271835, 425003, 589746 Clinical group 144 Lynch syndrome 443909 Disease 440437 Familial colorectal cancer Type X 443909 Disease 456333 Hereditary neuroendocrine tumor of small intestine 425003 Disease 583856 Isolated splenic vein thrombosis 97935 Disease 645859 Primary tuberculosis of the digestive system 3389, 97935 Disease 696175 Encapsulating peritoneal sclerosis 165711, 97935 Disease 98053 Rare genetic disease Category 536391 RASopathy 98053 Category 634511 Mosaic Legius syndrome 183466, 536391, 79375 Disease 137605 Legius syndrome 183466, 536391, 611314, 79375 Malformation syndrome 447874 Biological anomaly without phenotypic characterization 98053 Category 168612 Congenital deficiency in alpha-fetoprotein 447874 Biological anomaly 168615 Hereditary persistence of alpha-fetoprotein 447874 Biological anomaly 254704 Genetic hyperferritinemia without iron overload 447874 Biological anomaly 641343 Imprinting disorders 98053 Clinical group 99886 Transient neonatal diabetes mellitus 224, 641343 Disease 68336 Rare genetic tumor 98053 Category 183487 Genetic skin tumor or hamartoma 68336, 68346 Category 2396 Encephalocraniocutaneous lipomatosis 183484, 183487, 79382 Disease 840 Syringocystadenoma papilliferum 183487, 79386 Disease 3110 Rombo syndrome 183487, 79386 Disease 2591 Infantile myofibromatosis 183487, 206982, 271832, 71209, 79386 Disease 618 Familial melanoma 183487, 79386 Disease 122 Birt-Hogg-Dubé syndrome 156610, 183487, 264740, 319328, 363250, 79386 Malformation syndrome 493 Familial keratoacanthoma 183487, 79386 Disease 523 Hereditary leiomyomatosis and renal cell cancer 183487, 319328, 589746, 79386 Disease 31112 Dermatofibrosarcoma protuberans 183487, 271832, 3394, 79386 Disease 65748 Multiple self-healing squamous epithelioma 183487, 79386 Disease 79493 Brooke-Spiegler syndrome 183487, 79386 Disease 211 Familial cylindromatosis 79493 Clinical subtype 867 Familial multiple trichoepithelioma 79493 Clinical subtype 168632 Generalized basaloid follicular hamartoma syndrome 183487, 79386 Disease 404560 Familial atypical multiple mole melanoma syndrome 140162, 183487, 79386 Disease 622914 Rare genetic nevus 183487 Category 35125 Epidermal nevus syndrome 294057, 522548, 622914, 98641 Disease 497737 Epidermolytic nevus 281103, 294057, 622914 Disease 497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2 294057, 622914, 64746 Disease 626 Large/giant congenital melanocytic nevus 294057, 622914 Disease 64754 Nevus comedonicus syndrome 294057, 622914 Disease 166286 Porokeratotic eccrine ostial and dermal duct nevus 294057, 622914 Disease 171723 White sponge nevus 294057, 622914 Disease 313936 PENS syndrome 294057, 622914 Disease 538756 Familial multiple discoid fibromas 183487, 79386 Disease 183527 Genetic bone tumor 68336 Category 178 Chordoma 100101, 183527, 271847, 68411, 95503 Disease 435329 Familial ossifying fibroma 183527, 68411 Disease 183595 Genetic renal tumor 68336 Category 654 Nephroblastoma 183595, 506213, 93619 Disease 457246 Clear cell sarcoma of kidney 183595, 506213, 93619 Disease 183619 Genetic eye tumor 101435, 68336 Category 357027 Hereditary retinoblastoma 140162, 183619, 790 Clinical subtype 91481 Ring dermoid of cornea 101950, 183619 Disease 183734 Genetic gynecological tumor 68336 Category 227535 Hereditary breast cancer 180257, 183734, 626609 Disease 271832 Genetic soft tissue tumor 68336 Category 271835 Genetic digestive tract tumor 68336 Category 271841 Genetic cardiac tumor 68336 Category 271844 Genetic urogenital tumor 68336 Category 1331 Familial prostate cancer 156619, 271844, 98058 Disease 271847 Genetic neuroendocrine tumor 68336 Category 404 Familial hyperaldosteronism type II 100091, 235936, 271847 Disease 29072 Hereditary pheochromocytoma-paraganglioma 183637, 271847, 573163 Disease 100094 Multiple polyglandular tumor 101956, 182130, 183643, 271847 Category 97286 Carney-Stratakis syndrome 100094 Disease 139411 Carney triad 100094 Disease 276161 Multiple endocrine neoplasia 100094 Clinical group 276152 Multiple endocrine neoplasia type 4 276161 Disease 319494 Familial nonmedullary thyroid carcinoma 100088, 271847 Clinical group 97290 Familial papillary thyroid carcinoma with renal papillary neoplasia 319328, 319494 Disease 319487 Familial papillary or follicular thyroid carcinoma 319494 Disease 324299 Multiple paragangliomas associated with polycythemia 183637, 250165, 271847, 573163, 98427 Disease 322126 Genetic tumor of hematopoietic and lymphoid tissues 68336 Category 319465 Inherited acute myeloid leukemia 322126, 519, 619340 Disease 319480 Acute myeloid leukemia with CEBPA somatic mutations 322126, 98277 Disease 68346 Rare genetic skin disease 98053 Category 622720 Genetic autoinflammatory syndrome with skin involvement 68346 Category 617919 F12-associated cold autoinflammatory syndrome 290842, 324924, 622720 Disease 32960 Tumor necrosis factor receptor 1 associated periodic syndrome 290839, 290842, 324924, 622720 Disease 90340 Blau syndrome 264714, 280926, 280933, 290839, 290842, 324930, 324950, 477808, 522548, 619238, 622720, 79381, 98641 Disease 208650 NLRP3-associated autoinflammatory disease 290839, 290842, 324924, 622720 Clinical group 575 Muckle-Wells syndrome 208650, 567556 Disease 47045 Familial cold urticaria 208650 Disease 647815 Keratitis fugax hereditaria 208650, 519329 Disease 247868 NLRP12-associated hereditary periodic fever syndrome 290842, 324924, 622720 Disease 294023 Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome 165655, 290839, 290842, 324927, 324942, 611314, 619238, 622720, 79359, 79360 Disease 324977 Proteasome-associated autoinflammatory syndrome 290842, 477647, 481671, 622720, 98305 Disease 404546 DITRA 290839, 290842, 324927, 324942, 619238, 622720 Disease 425120 STING-associated vasculopathy with onset in infancy 101944, 156146, 156610, 233655, 280369, 290842, 477647, 481671, 622720 Disease 576349 NLRC4-related familial cold autoinflammatory syndrome 290842, 324924, 622720 Disease 619367 SAMD9L-associated autoinflammatory syndrome 264699, 290839, 290842, 477647, 481671, 622720 Disease 3243 Sweet syndrome 290842, 319719, 324927, 619238, 622720 Disease 619363 NOCARH syndrome 290842, 324936, 619238, 622720, 664482 Disease 674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency 290839, 290842, 324936, 324953, 619238, 622720 Disease 652510 Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa 619238, 622720 Clinical group 641380 PAPASH syndrome 652510, 653434 Disease 69126 PAPA syndrome 324942, 652510, 653434 Disease 289478 PASH syndrome 652510, 653434 Disease 79385 Unclassified genetic skin disorder 68346, 89826 Category 1954 Congenital lethal erythroderma 79385 Disease 2505 Multiple benign circumferential skin creases on limbs 611314, 79385 Disease 2812 Parana hard skin syndrome 79385 Disease 2833 Stiff skin syndrome 79385 Disease 231031 Erythema palmare hereditarium 79385 Disease 79387 Metabolic disease with skin involvement 68346, 89826 Category 79388 Mucopolysaccharidosis with skin involvement 79387 Category 371200 Congenital disorder of glycosylation with skin involvement 79387 Category 79389 Premature aging 68346, 89826 Category 2047 Flynn-Aird syndrome 522548, 71859, 79389, 98006, 98641 Disease 2500 Acrogeria 611314, 79389 Malformation syndrome 183426 Genetic epidermal disorder 68346 Category 2841 Hailey-Hailey disease 183426, 79359 Disease 79357 Hereditary palmoplantar keratoderma 183426, 79353 Category 307141 Diffuse palmoplantar keratoderma 79357 Category 307148 Isolated diffuse palmoplantar keratoderma 307141 Clinical group 98349 Autosomal dominant isolated diffuse palmoplantar keratoderma 307148 Category 495 Transgrediens et progrediens palmoplantar keratoderma 98349 Disease 2199 Epidermolytic palmoplantar keratoderma 98349 Disease 2337 Diffuse palmoplantar keratoderma, Bothnian type 98349 Disease 369999 Diffuse palmoplantar keratoderma with painful fissures 98349 Disease 530838 KRT1-related diffuse nonepidermolytic keratoderma 98349 Disease 98356 Autosomal recessive isolated diffuse palmoplantar keratoderma 307148 Category 87503 Mal de Meleda 98356 Disease 140966 Palmoplantar keratoderma, Nagashima type 250811, 98356 Disease 307711 Disease with diffuse palmoplantar keratoderma as a major feature 307141 Category 98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature 307711 Category 316 Progressive symmetric erythrokeratodermia 308166, 98352 Disease 384 Huriez syndrome 98352 Disease 86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome 98352 Disease 86919 Keratosis palmaris et plantaris-clinodactyly syndrome 98352 Disease 307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma 98352 Clinical group 659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques 307773 Disease 79395 Keratoderma hereditarium mutilans with ichthyosis 281082, 307773 Disease 281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome 281082, 307773 Disease 352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome 522562, 98352, 98625 Disease 538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome 140456, 98352 Disease 307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature 307711 Category 363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome 307804, 611314, 98027 Disease 66631 CEDNIK syndrome 281241, 307804, 611314 Disease 307837 Focal palmoplantar keratoderma 79357 Category 307846 Isolated focal palmoplantar keratoderma 307837 Clinical group 50942 Striate palmoplantar keratoderma 307846 Disease 79141 Hereditary painful callosities 307846 Disease 370002 Focal palmoplantar keratoderma with joint keratoses 307846 Disease 402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering 307846 Disease 448264 Isolated focal non-epidermolytic palmoplantar keratoderma 307846 Disease 307871 Disease with focal palmoplantar keratoderma as a major feature 307837 Category 98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature 307871 Category 2200 Focal palmoplantar and gingival keratoderma 98353 Disease 98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature 307871 Category 420686 Woolly hair-palmoplantar keratoderma syndrome 434809, 98357 Disease 307967 Punctate palmoplantar keratoderma 79357 Category 2338 Isolated punctate palmoplantar keratoderma 307967 Clinical group 737 Porokeratosis plantaris palmaris et disseminata 183444, 2338, 79358 Disease 79501 Punctate palmoplantar keratoderma type 1 2338 Disease 79502 Punctate palmoplantar keratoderma type 2 2338 Disease 307995 Marginal papular palmoplantar keratoderma 2338 Clinical group 38 Acrokeratoelastoidosis of Costa 183441, 228224, 307995, 79356 Disease 308013 Focal acral hyperkeratosis 307995 Disease 444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome 2338, 281082 Disease 308023 Disease with punctate palmoplantar keratoderma as a major feature 307967 Category 308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature 308023 Category 1336 Hyperkeratosis-hyperpigmentation syndrome 183466, 308031, 79375 Disease 2201 Palmoplantar keratoderma-spastic paralysis syndrome 308031 Disease 324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome 308031 Disease 308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature 308023 Category 2386 Leukoencephalopathy-palmoplantar keratoderma syndrome 308041 Disease 79360 Other genetic epidermal disease 183426 Category 482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome 441434, 79359, 79360 Malformation syndrome 158687 Lethal acantholytic erosive disorder 79359, 79360 Disease 218 Darier disease 79359, 79360 Disease 1658 Absence of fingerprints-congenital milia syndrome 79359, 79360 Disease 1867 Hereditary bullous dystrophy, macular type 611314, 79359, 79360 Disease 2388 Choreoacanthocytosis 207018, 225713, 263440, 68385, 79359, 79360 Disease 409 Hyperkeratosis lenticularis perstans 79359, 79360 Disease 498 Keratosis pilaris atrophicans 79359, 79360 Clinical group 2340 Keratosis follicularis spinulosa decalvans 498 Disease 3406 Ulerythema ophryogenesis 498 Disease 79100 Atrophoderma vermiculata 498 Disease 50943 Keratolytic winter erythema 79359, 79360 Disease 90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome 181368, 79359, 79360 Disease 247353 Generalized pustular psoriasis 79359, 79360 Disease 369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome 79359, 79360, 98050 Disease 163927 Pustulosis palmaris et plantaris 79359, 79360 Disease 163931 Acrodermatitis continua of Hallopeau 79359, 79360 Disease 79361 Inherited epidermolysis bullosa 183426, 79353 Category 304 Epidermolysis bullosa simplex 79361 Clinical group 595346 Epidermolysis bullosa simplex without extracutaneous involvement 304 Category 412181 Epidermolysis bullosa simplex due to BP230 deficiency 595346 Disease 412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency 595346 Disease 79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form 595346 Disease 79397 Epidermolysis bullosa simplex with mottled pigmentation 595346 Disease 79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form 595346 Disease 79400 Localized epidermolysis bullosa simplex 595346 Disease 79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement 595346 Disease 89838 Autosomal recessive generalized epidermolysis bullosa simplex 595346 Disease 158681 Epidermolysis bullosa simplex with circinate migratory erythema 595346 Disease 595351 Epidermolysis bullosa simplex with extracutaneous involvement 304 Category 508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy 595351 Disease 158684 Epidermolysis bullosa simplex with pyloric atresia 595351 Disease 2908 Kindler epidermolysis bullosa 183490, 79361, 79390 Disease 168606 Seborrhea-like dermatitis with psoriasiform elements 183426, 79359 Disease 183435 Inherited ichthyosis 183426, 79354 Category 281082 Inherited non-syndromic ichthyosis 183435 Category 461 Recessive X-linked ichthyosis 281082, 98628 Disease 317 Erythrokeratodermia variabilis 281082, 308166, 522548, 98641 Disease 817 Peeling skin syndrome 281082 Clinical group 263534 Acral peeling skin syndrome 817 Disease 263543 Generalized peeling skin syndrome 817 Disease 263553 Peeling skin syndrome type B 263543 Clinical subtype 263548 Peeling skin syndrome type A 263543 Clinical subtype 281103 Keratinopathic ichthyosis 281082 Clinical group 281190 Congenital reticular ichthyosiform erythroderma 281103 Disease 312 Autosomal dominant epidermolytic ichthyosis 281103 Disease 455 Superficial epidermolytic ichthyosis 281103 Disease 79503 Ichthyosis hystrix of Curth-Macklin 281103 Disease 281139 Annular epidermolytic ichthyosis 281103 Disease 512103 Autosomal recessive epidermolytic ichthyosis 281103 Disease 281085 Inherited ichthyosis syndromic form 183435 Category 281210 X-linked ichthyosis syndrome 281085 Clinical group 281090 Syndromic recessive X-linked ichthyosis 281210 Disease 281217 Autosomal ichthyosis syndrome 281085 Category 281222 Autosomal ichthyosis syndrome with prominent hair abnormalities 281217 Category 634 Netherton syndrome 281222, 331223 Disease 59303 Neonatal ichthyosis-sclerosing cholangitis syndrome 156607, 281222, 447771 Disease 91132 Ichthyosis-hypotrichosis syndrome 281222, 481771, 79364 Disease 281238 Autosomal ichthyosis syndrome with prominent neurologic signs 281217 Category 2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome 281238 Disease 281241 Autosomal ichthyosis syndrome with fatal disease course 281217 Category 281244 Autosomal ichthyosis syndrome with other associated signs 281217 Category 3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome 281244, 68334 Disease 2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome 183518, 281244 Disease 88621 Ichthyosis-prematurity syndrome 281244 Disease 183438 Genetic erythrokeratoderma 183426 Category 2897 Pityriasis rubra pilaris 183438, 79355 Disease 1955 Spinocerebellar ataxia type 34 183438, 79355, 94145 Disease 315 Erythrokeratoderma ''en cocardes'' 183438, 79355 Disease 308166 Erythrokeratoderma variabilis progressiva 183438, 79355 Clinical group 183441 Genetic acrokeratoderma 183426 Category 79151 Acrokeratosis verruciformis of Hopf 183441, 79356 Disease 99710 Punctate acrokeratoderma freckle-like pigmentation 183441, 79356 Disease 183444 Genetic porokeratosis 183426 Category 735 Porokeratosis of Mibelli 183444, 79358 Disease 79152 Disseminated superficial actinic porokeratosis 183444, 79358 Disease 222628 Hereditary poikiloderma 183426, 79353 Category 221039 Hereditary sclerosing poikiloderma, Weary type 222628 Disease 221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome 206656, 222628, 264740, 264992 Disease 221046 Poikiloderma with neutropenia 222628, 331184 Disease 2907 Hereditary acrokeratotic poikiloderma 222628 Disease 183447 Genetic epidermal appendage anomaly 68346 Category 183450 Genetic hair anomaly 183447 Category 481771 Genetic alopecia 183450 Category 1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome 481771, 611314, 79364 Disease 701 Alopecia universalis 481771, 79364 Disease 2850 Alopecia-intellectual disability syndrome 481771, 611314, 79364 Disease 168 Loose anagen syndrome 481771, 79364 Disease 444 Marie Unna hereditary hypotrichosis 481771, 79364 Disease 55654 Hypotrichosis simplex 481771, 79364 Disease 86819 Atrichia with papular lesions 481771, 79364 Disease 90368 Hypotrichosis simplex of the scalp 481771, 79364 Disease 157954 ANE syndrome 181387, 481771, 611314, 79364, 95495 Disease 217407 Hereditary hypotrichosis with recurrent skin vesicles 481771, 79364 Disease 79365 Rare disorder with hypertrichosis 183450, 79363 Category 1021 Amaurosis-hypertrichosis syndrome 716405, 79365 Disease 769 Rabson-Mendenhall syndrome 181368, 79365 Malformation syndrome 3387 Isolated anterior cervical hypertrichosis 79365 Disease 79366 Isolated hair shaft abnormality 183450, 79363 Category 1410 Uncombable hair syndrome 79366 Disease 2889 Pili torti 79366 Disease 169 Ringed hair disease 79366 Disease 170 Woolly hair 79366 Disease 573 Monilethrix 79366 Disease 720 Pili bifurcati 79366 Disease 79414 Woolly hair nevus 79366 Disease 79492 Pili gemini 79366 Disease 79367 Syndromic hair shaft abnormality 183450, 79363 Category 2891 Pili torti-developmental delay-neurological abnormalities syndrome 79367 Malformation syndrome 3361 Trichodysplasia-xeroderma syndrome 79367 Malformation syndrome 434809 Syndrome with woolly hair 79367 Category 411788 Familial isolated trichomegaly 183450, 79363 Disease 183454 Genetic nail anomaly 183447 Category 79369 Isolated nail anomaly 183454, 79368 Category 2387 Leukonychia totalis 79369 Disease 79153 Idiopathic trachyonychia 79369 Disease 217059 Isolated nail clubbing 79369 Morphological anomaly 280654 Autosomal recessive nail dysplasia 79369 Disease 79370 Syndromic nail anomaly 183454, 79368 Category 2045 FLOTCH syndrome 79370 Disease 210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome 79370, 79375 Disease 183460 Genetic sebaceous gland anomaly 183447 Category 841 Sebocystomatosis 183460, 79372 Disease 542657 Isolated hyperchlorhidrosis 183447, 79362 Disease 183463 Genetic pigmentation anomaly of the skin 68346 Category 2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome 183463, 611314, 79374 Disease 183466 Genetic hyperpigmentation of the skin 183463 Category 2678 Familial isolated café-au-lait macules 183466, 79375 Malformation syndrome 41 Dyschromatosis symmetrica hereditaria 183466, 79375 Disease 241 Dyschromatosis universalis hereditaria 183466, 79375 Disease 79146 Familial progressive hyperpigmentation 183466, 79375 Disease 79150 Linear and whorled nevoid hypermelanosis 183466, 79375 Disease 85453 X-linked reticulate pigmentary disorder 183466, 290839, 477647, 481671, 79375, 98628 Disease 178307 Reticulate acropigmentation of Kitamura 183466, 79375 Disease 231040 Familial generalized lentiginosis 183466, 79375 Disease 508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome 183466, 79375 Disease 183469 Genetic hypopigmentation of the skin 183463 Category 2884 Piebaldism 183469, 79376 Disease 2885 Piebald trait-neurologic defects syndrome 183469, 611314, 79376 Malformation syndrome 284811 Syndromic oculocutaneous albinism 183469, 79376, 98706 Category 381 Griscelli syndrome 284811, 611314 Disease 79476 Griscelli syndrome type 1 102005, 381 Clinical subtype 79477 Griscelli syndrome type 2 183494, 331249, 381, 79391 Clinical subtype 79478 Griscelli syndrome type 3 381 Clinical subtype 280628 Familial progressive hyper- and hypopigmentation 183463, 79374 Disease 183472 Genetic dermis disorder 68346 Category 183478 Genetic skin vascular disorder 183472 Category 481662 Familial Chilblain lupus 163531, 182228, 183478, 477647, 477771, 481671, 79379 Disease 656071 Atrophic papulosis 183478, 79379 Disease 656085 Benign atrophic papulosis 656071 Clinical subtype 679 Malignant atrophic papulosis 182222, 271870, 656071 Clinical subtype 90280 Chilblain lupus 163531, 183478, 79379 Disease 313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome 140162, 183478, 79379 Disease 183481 Genetic mixed dermis disorder 183472 Category 228215 Genetic dermis elastic tissue disorder 183472, 79378 Category 53296 Familial cutaneous collagenoma 228215 Disease 79147 Familial reactive perforating collagenosis 228215 Disease 91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency 228215 Disease 228277 Familial anetoderma 228215 Disease 436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa 228215, 716405 Disease 1659 Dermatoleukodystrophy 228215, 68356 Disease 477808 Other genetic dermis disorder 183472 Category 1764 Familial dysautonomia 140477, 182058, 448426, 477808, 519286, 522568, 79381, 98604 Disease 2987 Antecubital pterygium syndrome 477808, 79381 Malformation syndrome 79149 Dermochondrocorneal dystrophy 477808, 79381, 98628 Disease 140933 Linear atrophoderma of Moulin 477808, 79381 Disease 353220 Familial primary localized cutaneous amyloidosis 137807, 477808 Disease 357225 Primary non-essential cutis verticis gyrata 477808, 611314, 671 Disease 468666 Isolated generalized anhidrosis with normal sweat glands 183484, 477808, 79381, 79382 Disease 183484 Genetic subcutaneous tissue disorder 68346 Category 2398 Multiple symmetric lipomatosis 183484, 79382 Disease 529 Roch-Leri mesosomatous lipomatosis 183484, 79382 Disease 98305 Genetic lipodystrophy 156638, 183484, 90970 Category 1979 Lipodystrophy due to peptidic growth factors deficiency 98305 Disease 98306 Familial partial lipodystrophy 98305 Clinical group 79083 PPARG-related familial partial lipodystrophy 98306 Disease 79084 Familial partial lipodystrophy, Köbberling type 300763, 98306 Disease 79085 AKT2-related familial partial lipodystrophy 98306 Disease 280356 PLIN1-related familial partial lipodystrophy 181368, 98306 Disease 280365 Autosomal semi-dominant severe lipodystrophic laminopathy 181368, 300763, 98306 Disease 435651 CIDEC-related familial partial lipodystrophy 98306 Disease 435660 LIPE-related familial partial lipodystrophy 98306 Disease 363400 Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome 182070, 183500, 98305 Disease 686999 Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome 140459, 611314, 98305 Disease 199276 Familial multiple lipomatosis 183484, 79382 Disease 199279 Familial angiolipomatosis 183484, 79382 Disease 183490 Genetic photodermatosis 68346 Category 178338 UV-sensitive syndrome 183490, 79390 Disease 183494 Genetic immune deficiency with skin involvement 68346 Category 906 Wiskott-Aldrich syndrome 183422, 183494, 331217, 506219, 79391, 98456 Disease 379 Chronic granulomatous disease 183494, 264714, 280926, 280930, 280933, 522504, 674896, 79391 Disease 1334 Chronic mucocutaneous candidiasis 183494, 183710, 79391 Disease 2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency 183494, 331223, 79391 Disease 1839 Hereditary mucoepithelial dysplasia 183494, 522548, 79391, 98641 Malformation syndrome 302 Inherited epidermodysplasia verruciformis 140162, 183494, 183710, 79391 Disease 314 Erythroderma desquamativum 183494, 79391 Disease 157949 Combined immunodeficiency with granulomatosis 183494, 480549, 79391 Disease 51636 WHIM syndrome 183494, 183710, 79391 Disease 641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency 183494, 331223, 79391 Disease 656912 Autosomal dominant combined immunodeficiency due to ERBIN deficiency 183494, 331223, 79391 Disease 656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency 183494, 331223, 79391 Disease 656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency 183494, 331223, 79391 Disease 658946 Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency 169355, 183494, 324933, 79391 Disease 596759 Combined immunodeficiency due to RELA haploinsufficiency 183494, 324936, 480549, 79391 Disease 182734 Genetic urticaria 68346 Clinical group 493342 Vibratory urticaria 182734, 79384 Disease 71859 Rare genetic neurological disorder 98053 Category 98743 Genetic neurological channelopathy of the central nervous system 71859 Category 98744 Neurological channelopathy of the central nervous system due to a genetic sodium channel defect 98743 Category 36387 Genetic epilepsy with febrile seizure plus 309, 611314, 693802, 98744, 98749 Disease 681 Hypokalemic periodic paralysis 206976, 371433, 98738, 98740, 98741, 98744 Disease 293181 Epilepsy of infancy with migrating focal seizures 182083, 693802, 98744 Disease 2382 Lennox-Gastaut syndrome 611314, 98259, 98744, 98749 Disease 569 Familial or sporadic hemiplegic migraine 183503, 183509, 71281, 98022, 98744, 98745 Disease 442835 Non-specific early-onset epileptic encephalopathy 166472, 611314, 98744, 98745, 98746, 98749 Disease 1934 Early infantile developmental and epileptic encephalopathy 182079, 182083, 611314, 693802, 98744, 98746 Clinical syndrome 33069 Dravet syndrome 182083, 611314, 693802, 98744, 98749 Disease 306 Self-limited infantile epilepsy 166475, 693802, 98744, 98746 Disease 140927 Self-limited neonatal-infantile epilepsy 166475, 693802, 98744, 98746 Disease 98745 Neurological channelopathy of the central nervous system due to a genetic calcium channel defect 98743 Category 64280 Childhood absence epilepsy 98259, 98745, 98749 Disease 458803 Spinocerebellar ataxia type 42 94148, 98745 Disease 97 Familial paroxysmal ataxia 211062, 98745 Disease 98758 Spinocerebellar ataxia type 6 94148, 98745 Disease 98746 Neurological channelopathy of the central nervous system due to a genetic potassium channel defect 98743 Category 166108 Birk-Barel syndrome 611314, 98746 Disease 435438 Progressive myoclonic epilepsy type 7 98261, 98746 Disease 98809 Paroxysmal kinesigenic dyskinesia 1431, 98746 Disease 98768 Spinocerebellar ataxia type 13 94145, 98746 Disease 439218 KCNQ2-related developmental and epileptic encephalopathy 611314, 693802, 98746 Disease 98784 Sleep-related hypermotor epilepsy 699645, 98746, 98748 Disease 1949 Self-limited neonatal epilepsy 693802, 98746 Disease 98772 Spinocerebellar ataxia type 19/22 94145, 98746 Disease 37612 Episodic ataxia type 1 166472, 211062, 98746 Disease 79137 Generalized epilepsy-paroxysmal dyskinesia syndrome 309, 98746 Disease 98747 Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect 98743 Category 98748 Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect 98743 Category 98749 Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect 98743 Category 307 Juvenile myoclonic epilepsy 306759, 699645, 98749 Disease 1945 Self-limited epilepsy with centrotemporal spikes 98259, 98749 Disease 538238 Neurological channelopathy of the central nervous system due to a genetic chloride channel defect 98743 Category 363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema 538238, 68356 Disease 485350 CLCN4-related X-linked intellectual disability syndrome 538238, 611314 Disease 68356 Leukodystrophy 71859, 98006 Category 495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy 441434, 68356 Disease 466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy 611314, 68356 Disease 58 Alexander disease 182070, 183500, 68356 Disease 363717 Alexander disease type I 58 Clinical subtype 363722 Alexander disease type II 519343, 522508, 58 Clinical subtype 702 Pelizaeus-Merzbacher disease 182070, 183500, 441434, 519341, 522506, 611314, 68356 Disease 280210 Pelizaeus-Merzbacher disease, connatal form 702 Clinical subtype 280219 Pelizaeus-Merzbacher disease, classic form 702 Clinical subtype 280224 Pelizaeus-Merzbacher disease, transitional form 702 Clinical subtype 280229 Pelizaeus-Merzbacher disease in female carriers 702 Clinical subtype 280234 Null syndrome 702 Clinical subtype 51 Aicardi-Goutières syndrome 477647, 477771, 481671, 611314, 68356 Disease 135 CACH syndrome 68356 Disease 99853 Ovarioleukodystrophy 135 Clinical subtype 99854 Cree leukoencephalopathy 135 Clinical subtype 157713 Congenital or early infantile CACH syndrome 135 Clinical subtype 157716 Late infantile CACH syndrome 135 Clinical subtype 157719 Juvenile or adult CACH syndrome 135 Clinical subtype 2478 Megalencephalic leukoencephalopathy with subcortical cysts 68356 Disease 85136 Cystic leukoencephalopathy without megalencephaly 68356 Disease 85163 Hypomyelination-congenital cataract syndrome 522548, 611314, 68356, 98641 Malformation syndrome 99015 Spastic paraplegia type 2 320350, 441434, 68356 Disease 99852 Ravine syndrome 68356 Disease 139441 Hypomyelination with atrophy of basal ganglia and cerebellum 68356 Disease 139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts 68356 Disease 139447 Progressive cavitating leukoencephalopathy 68356 Disease 280270 Pelizaeus-Merzbacher-like disease 68356 Disease 280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation 280270 Clinical subtype 280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation 280270 Clinical subtype 280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation 280270 Clinical subtype 289494 4H leukodystrophy 68356 Disease 77295 Odontoleukodystrophy 289494 Clinical subtype 88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome 181387, 289494, 611314 Clinical subtype 137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome 289494 Clinical subtype 447896 Tremor-ataxia-central hypomyelination syndrome 183518, 289494, 441434 Clinical subtype 313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia 276058, 68356, 98534 Disease 363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity 68356 Disease 438114 RARS-related autosomal recessive hypomyelinating leukodystrophy 611314, 68356 Disease 502444 Alkaline ceramidase 3 deficiency 68356, 68385 Disease 527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy 316240, 611314, 68356 Disease 599376 Hypomyelination of early myelinating structures 183518, 611314, 68356 Disease 662229 Episodic memory defect leukoencephalopathy 68356 Disease 68385 Neurometabolic disease 71859, 98006 Category 385 Neurodegeneration with brain iron accumulation 276058, 306695, 307058, 68385, 98534 Clinical group 3464 Woodhouse-Sakati syndrome 181381, 181387, 181441, 183625, 370106, 385, 611314 Disease 289560 Mitochondrial membrane protein-associated neurodegeneration 385, 441434 Disease 306674 Kufor-Rakeb syndrome 385, 514980, 98687 Disease 329284 Beta-propeller protein-associated neurodegeneration 385, 611314 Disease 397725 COASY protein-associated neurodegeneration 385, 611314 Disease 496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome 140468, 385, 611314, 98098 Disease 371047 Congenital disorder of glycosylation with neurological involvement 68385 Category 565899 POMGNT2-related limb-girdle muscular dystrophy R24 102015, 207113, 371047, 611314 Disease 263516 Progressive myoclonic epilepsy type 3 371047, 611314, 98261 Disease 371071 Congenital disorder of glycosylation with epilepsy as a major feature 166481, 371047 Category 280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16 102015, 371040, 371047, 611314 Disease 46348 Paroxysmal extreme pain disorder 71859, 98006 Disease 98497 Genetic peripheral neuropathy 71859, 98496 Category 459033 Ataxia-oculomotor apraxia type 4 370106, 98099, 98497, 98688 Disease 166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy 98497 Category 2926 Digital extensor muscle aplasia-polyneuropathy 166 Malformation syndrome 431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder 100981, 166, 441434 Clinical group 320406 Spastic paraplegia-optic atrophy-neuropathy syndrome 431320 Disease 431329 Autosomal recessive spastic paraplegia type 57 431320 Disease 468661 Autosomal recessive spastic paraplegia type 74 431320 Disease 476109 Axonal hereditary motor and sensory neuropathy 166 Clinical group 91024 Autosomal recessive axonal hereditary motor and sensory neuropathy 476109 Clinical group 466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X 91024 Disease 466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome 101939, 156604, 611314, 91024, 98099 Disease 101101 Charcot-Marie-Tooth disease type 2B2 91024 Disease 101102 Charcot-Marie-Tooth disease type 2H 91024 Disease 228374 Charcot-Marie-Tooth disease type 2B5 91024 Disease 300319 Charcot-Marie-Tooth disease type 2P 64746, 91024 Disease 324442 Autosomal recessive axonal neuropathy with neuromyotonia 91024 Disease 397968 Charcot-Marie-Tooth disease type 2R 91024 Disease 423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome 91024 Disease 443073 Charcot-Marie-Tooth disease type 2S 91024 Disease 443950 DNAJB2-related Charcot-Marie-Tooth disease type 2 91024 Disease 90118 Severe early-onset axonal neuropathy due to MFN2 deficiency 91024 Disease 90119 Hereditary motor and sensory neuropathy with acrodystrophy 91024 Disease 98856 Charcot-Marie-Tooth disease type 2B1 300758, 91024 Disease 101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness 91024 Disease 90120 Hereditary motor and sensory neuropathy type 6 140456, 91024 Disease 495274 Charcot-Marie-Tooth disease type 2T 91024 Disease 538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy 91024 Disease 538101 Congenital axonal neuropathy with encephalopathy 91024 Disease 700508 Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy 91024 Disease 140456 Autosomal dominant hereditary axonal motor and sensory neuropathy 476109 Category 64746 Autosomal dominant Charcot-Marie-Tooth disease type 2 140456 Clinical group 99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B 64746 Disease 99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C 64746 Disease 99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D 64746 Disease 99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E 64746 Disease 99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F 64746 Disease 99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I 64746 Disease 99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J 64746 Disease 99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K 64746 Disease 99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L 64746 Disease 99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A1 64746 Disease 99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A2 64746 Disease 228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N 64746 Disease 228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M 64746 Disease 284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O 64746 Disease 324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation 64746 Disease 329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q 64746 Disease 397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U 64746 Disease 401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons 64746 Disease 435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y 64746 Disease 435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation 64746 Disease 447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V 64746 Disease 466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z 64746 Disease 487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation 64746 Disease 488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W 64746 Disease 521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD 64746 Disease 64751 Hereditary motor and sensory neuropathy type 5 140456 Disease 90117 Hereditary motor and sensory neuropathy, Okinawa type 140456 Disease 476116 Demyelinating hereditary motor and sensory neuropathy 166 Clinical group 140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy 476116 Category 3115 Roussy-Lévy syndrome 140453 Disease 65753 Charcot-Marie-Tooth disease type 1 140453 Clinical group 101082 Charcot-Marie-Tooth disease type 1B 65753 Disease 101083 Charcot-Marie-Tooth disease type 1C 65753 Disease 101084 Charcot-Marie-Tooth disease type 1D 65753 Disease 101085 Charcot-Marie-Tooth disease type 1F 65753 Disease 84093 Hereditary thermosensitive neuropathy 140453 Disease 140481 Autosomal dominant slowed nerve conduction velocity 140453 Disease 476394 PMP2-related Charcot-Marie-Tooth disease type 1 140453 Disease 280598 Hereditary sensorimotor neuropathy with hyperelastic skin 140453 Disease 64748 Dejerine-Sottas syndrome 140453, 140459 Disease 140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy 476116 Category 64749 Charcot-Marie-Tooth disease type 4 140459 Clinical group 99948 Charcot-Marie-Tooth disease type 4A 64749 Disease 99949 Charcot-Marie-Tooth disease type 4C 64749 Disease 99950 Charcot-Marie-Tooth disease type 4D 64749 Disease 99951 Charcot-Marie-Tooth disease type 4E 64749 Disease 99952 Charcot-Marie-Tooth disease type 4F 64749 Disease 99953 Charcot-Marie-Tooth disease type 4G 64749 Disease 99954 Charcot-Marie-Tooth disease type 4H 64749 Disease 99955 Charcot-Marie-Tooth disease type 4B1 64749 Disease 99956 Charcot-Marie-Tooth disease type 4B2 64749 Disease 139515 Charcot-Marie-Tooth disease type 4J 64749 Disease 363981 Charcot-Marie-Tooth disease type 4B3 64749 Disease 453533 Polyendocrine-polyneuropathy syndrome 140459, 177107, 181381, 181387, 611314 Disease 476123 Intermediate Charcot-Marie-Tooth disease 166 Clinical group 90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease 476123 Clinical group 93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E 567562, 90114 Disease 100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A 90114 Disease 100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B 90114 Disease 100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C 90114 Disease 100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D 90114 Disease 324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain 90114 Disease 352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F 90114 Disease 268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease 476123 Clinical group 217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A 268337 Disease 254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B 268337 Disease 369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C 268337 Disease 643 Giant axonal neuropathy 611314, 98497 Disease 2809 Familial recurrent peripheral facial palsy 98497 Disease 53739 Distal hereditary motor neuropathy 98497, 98505 Clinical group 140465 Autosomal dominant distal hereditary motor neuropathy 53739 Category 1216 Autosomal dominant congenital benign spinal muscular atrophy 140465 Disease 100998 Autosomal dominant spastic paraplegia type 17 100979, 140465 Disease 139518 Distal hereditary motor neuropathy type 1 140465 Disease 139525 Distal hereditary motor neuropathy type 2 140465 Disease 139536 Distal hereditary motor neuropathy type 5 140465 Disease 139589 Distal hereditary motor neuropathy type 7 140465 Disease 476093 HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome 140465, 593 Disease 140468 Autosomal recessive distal hereditary motor neuropathy 53739 Category 98920 Spinal muscular atrophy with respiratory distress type 1 140468 Disease 139547 Distal spinal muscular atrophy type 3 140468 Disease 139552 Distal hereditary motor neuropathy, Jerash type 140468 Disease 314485 Young adult-onset distal hereditary motor neuropathy 140468 Disease 404538 X-linked distal hereditary motor neuropathy 53739 Category 404521 Spinal muscular atrophy with respiratory distress type 2 404538 Disease 64753 Spinocerebellar ataxia with axonal neuropathy type 2 519341, 522506, 98097, 98497 Disease 94124 Spinocerebellar ataxia with axonal neuropathy type 1 98097, 98497 Disease 140471 Hereditary sensory and autonomic neuropathy 98497 Clinical group 139583 X-linked hereditary sensory and autonomic neuropathy with deafness 140471 Disease 140474 Autosomal dominant hereditary sensory and autonomic neuropathy 140471 Category 90026 Primary erythromelalgia 140474 Disease 139564 Hereditary sensory and autonomic neuropathy type 1B 140474 Disease 391397 Hereditary sensory and autonomic neuropathy type 7 140474 Disease 653728 Congenital insensitivity to pain syndrome, Marsili type 140474, 140477 Disease 140477 Autosomal recessive hereditary sensory and autonomic neuropathy 140471 Category 642 Hereditary sensory and autonomic neuropathy type 4 140477, 611314 Disease 970 Hereditary sensory and autonomic neuropathy type 2 140477 Disease 64752 Hereditary sensory and autonomic neuropathy type 5 140477 Disease 88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy 140477 Disease 139573 Hereditary sensory and autonomic neuropathy with deafness and global delay 140477 Disease 139578 Mutilating hereditary sensory neuropathy with spastic paraplegia 100981, 140477 Disease 314381 Hereditary sensory and autonomic neuropathy type 6 140477 Disease 401993 Cold-induced sweating syndrome-hyperthermia spectrum 140477 Clinical group 1545 Crisponi syndrome 401993 Malformation syndrome 157820 Cold-induced sweating syndrome 401993 Disease 603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome 401993, 603699, 716405 Disease 320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation 100981, 140477, 611314 Disease 478664 Hereditary sensory and autonomic neuropathy type 8 140477 Disease 453510 Congenital insensitivity to pain with severe intellectual disability 140477, 611314 Disease 217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation 140471 Disease 169464 Primary CD59 deficiency 459348, 98364, 98497 Disease 207015 Rare hereditary disease with peripheral neuropathy 98497 Category 207018 Rare hereditary metabolic disease with peripheral neuropathy 207015 Category 225703 Mitochondrial disease with peripheral neuropathy 207018 Category 207021 Rare hereditary systemic disease with peripheral neuropathy 207015 Category 85448 AGel amyloidosis 207021, 444116, 69, 98628 Disease 485418 EMILIN-1-related connective tissue disease 207021 Disease 207025 Rare hereditary neurologic disease with peripheral neuropathy 207015 Category 207028 Cerebellar ataxia with peripheral neuropathy 207025 Category 504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome 207028, 98036, 98099 Disease 694922 Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome 166472, 207028, 98098 Disease 589522 Spinocerebellar ataxia type 46 207028, 94145 Disease 610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome 182070, 183500, 207025, 611314 Disease 352723 Attenuated Chédiak-Higashi syndrome 182070, 183500, 207015 Disease 231013 Congenital trigeminal anesthesia 519349, 522510, 98497 Disease 306577 Hereditary sodium channelopathy-related small fibers neuropathy 98497 Disease 391384 Familial episodic pain syndrome 98497 Disease 391389 Familial episodic pain syndrome with predominantly upper body involvement 391384 Clinical subtype 391392 Familial episodic pain syndrome with predominantly lower limb involvement 391384 Clinical subtype 158124 Genetic dementia 71859 Category 482072 HTRA1-related cerebral small vessel disease 158124, 477754, 89043 Clinical group 199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy 482072 Disease 482077 HTRA1-related autosomal dominant cerebral small vessel disease 482072 Disease 1980 Bilateral striopallidodentate calcinosis 158124, 306666, 307055, 611314, 89043 Disease 98543 Metabolic disease with dementia 158124, 89043 Category 98544 Cerebral lipidosis with dementia 98543 Category 276058 Genetic neurodegenerative disease with dementia 158124, 183500 Category 54247 Posterior cortical atrophy 276058, 98534 Disease 399 Huntington disease 276058, 306719, 519347, 522522, 98534 Disease 1020 Early-onset autosomal dominant Alzheimer disease 276058, 98534 Disease 98538 Ataxia with dementia 276058, 98534 Category 98539 Early-onset ataxia with dementia 98538 Category 1172 Autosomal recessive cerebellar ataxia 183518, 98539 Clinical group 88644 Autosomal recessive ataxia, Beauce type 1172, 611314 Disease 98095 Autosomal recessive congenital cerebellar ataxia 1172 Category 1170 Autosomal recessive cerebelloparenchymal disorder type 3 522548, 611314, 98095, 98641 Disease 1766 Dysequilibrium syndrome 611314, 98095 Disease 94122 Cerebellar ataxia, Cayman type 611314, 98095 Disease 140874 Joubert syndrome and related disorders 519341, 522506, 98095 Category 453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency 611314, 98095 Disease 512260 Congenital cerebellar ataxia due to RNU12 mutation 611314, 98095 Disease 98096 Autosomal recessive metabolic cerebellar ataxia 1172 Category 98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect 1172 Category 1168 Ataxia-oculomotor apraxia type 1 519341, 522506, 98097 Disease 251347 Ataxia-telangiectasia-like disorder 183422, 252190, 611314, 79379, 98097 Disease 420741 RIDDLE syndrome 169346, 611314, 98097 Malformation syndrome 98098 Autosomal recessive degenerative and progressive cerebellar ataxia 1172 Category 1177 Early-onset cerebellar ataxia with retained tendon reflexes 98098 Disease 88628 Posterior column ataxia-retinitis pigmentosa syndrome 611314, 98098 Disease 98099 Autosomal recessive syndromic cerebellar ataxia 1172 Category 95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome 98099 Disease 284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome 611314, 98099 Disease 284289 Adult-onset autosomal recessive cerebellar ataxia 1172, 611314 Disease 284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia 1172 Disease 284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia 1172 Disease 352403 Spectrin-associated autosomal recessive cerebellar ataxia 1172, 611314 Disease 404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome 1172, 166472, 611314 Clinical group 284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency 404481 Disease 404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency 404481 Disease 404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency 404481 Disease 412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency 1172, 611314 Disease 98540 Late-onset ataxia with dementia 98538 Category 99 Autosomal dominant cerebellar ataxia 183518, 98540 Category 94145 Autosomal dominant cerebellar ataxia type I 99 Clinical group 98773 Spinocerebellar ataxia type 21 611314, 94145 Disease 101108 Spinocerebellar ataxia type 23 94145 Disease 101110 Spinocerebellar ataxia type 20 94145 Disease 101111 Spinocerebellar ataxia type 25 94145 Disease 208513 Spinocerebellar ataxia type 29 94145 Disease 276183 Spinocerebellar ataxia type 32 611314, 94145 Disease 276193 Spinocerebellar ataxia type 35 94145 Disease 276198 Spinocerebellar ataxia type 36 94145 Disease 314647 Non-progressive cerebellar ataxia with intellectual disability 611314, 94145 Disease 363710 Spinocerebellar ataxia type 37 94145 Disease 423275 Spinocerebellar ataxia type 40 94145 Disease 98755 Spinocerebellar ataxia type 1 158266, 519341, 522506, 94145 Disease 98756 Spinocerebellar ataxia type 2 158266, 519341, 522506, 94145 Disease 98757 Spinocerebellar ataxia type 3 158266, 94145 Disease 276238 Machado-Joseph disease type 1 98757 Clinical subtype 276241 Machado-Joseph disease type 2 98757 Clinical subtype 276244 Machado-Joseph disease type 3 98757 Clinical subtype 98759 Spinocerebellar ataxia type 17 158266, 306695, 307058, 94145 Disease 98760 Spinocerebellar ataxia type 8 94145 Disease 98762 Spinocerebellar ataxia type 12 94145 Disease 98763 Spinocerebellar ataxia type 14 611314, 94145 Disease 98764 Spinocerebellar ataxia type 27A 94145 Disease 98765 Spinocerebellar ataxia type 4 94145 Disease 98769 Spinocerebellar ataxia type 15/16 94145 Disease 98771 Spinocerebellar ataxia type 18 94145 Disease 497764 Spinocerebellar ataxia type 43 94145 Disease 589515 PUM1-associated developmental disability-ataxia-seizure syndrome 166472, 611314, 94145 Disease 631103 Spinocerebellar ataxia type 48 94145 Disease 675216 Spinocerebellar ataxia type 27B 94145 Disease 631106 Spinocerebellar ataxia type 49 94145 Disease 94148 Autosomal dominant cerebellar ataxia type III 99 Clinical group 589527 Spinocerebellar ataxia type 45 94148 Disease 631095 Spinocerebellar ataxia type 44 94148 Disease 98766 Spinocerebellar ataxia type 5 94148 Disease 98767 Spinocerebellar ataxia type 11 94148 Disease 101112 Spinocerebellar ataxia type 26 94148 Disease 211017 Spinocerebellar ataxia type 30 94148 Disease 217012 Spinocerebellar ataxia type 31 94148 Disease 458798 Spinocerebellar ataxia type 41 94148 Disease 94149 Autosomal dominant cerebellar ataxia type IV 99 Clinical group 101 Dentatorubral pallidoluysian atrophy 158266, 94149 Disease 98761 Spinocerebellar ataxia type 10 94149 Disease 208508 Autosomal dominant cerebellar ataxia type II 99 Clinical group 94147 Spinocerebellar ataxia type 7 208508, 98687 Disease 642747 PUM1-related cerebellar ataxia 99 Disease 248111 Juvenile Huntington disease 276058, 306719, 519347, 522522, 98534 Disease 276061 Genetic frontotemporal degeneration with dementia 276058 Category 52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia 206662, 276061, 98535 Disease 683 Progressive supranuclear palsy 276061, 306708, 98535, 98687 Disease 99750 Atypical progressive supranuclear palsy syndrome 683 Clinical subtype 240085 Progressive supranuclear palsy-predominant parkinsonism syndrome 306666, 99750 Clinical subtype 240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome 99750 Clinical subtype 240103 Progressive supranuclear palsy-corticobasal syndrome 99750 Clinical subtype 240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome 99750 Clinical subtype 240071 Classic progressive supranuclear palsy syndrome 683 Clinical subtype 282 Frontotemporal dementia 276061, 98535 Clinical group 100069 Semantic dementia 282, 95432 Disease 100070 Progressive non-fluent aphasia 282, 306708, 95432 Disease 275864 Behavioral variant of frontotemporal dementia 282, 306708 Disease 275872 Frontotemporal dementia with motor neuron disease 276061, 306708, 98535 Disease 401901 Huntington disease-like syndrome due to C9ORF72 expansions 276058, 306719, 98534 Disease 412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments 276058, 98534 Disease 439254 ITM2B amyloidosis 276058, 444116, 69, 98534 Disease 97345 ABri amyloidosis 439254 Clinical subtype 97346 ADan amyloidosis 439254 Clinical subtype 411602 Hereditary late-onset Parkinson disease 182058, 276058, 306666, 307055, 448426, 98534 Disease 2289 Neuronal intranuclear inclusion disease 276058, 98534 Disease 280400 Inherited human prion disease 276058, 56970 Category 466 Fatal familial insomnia 280400 Disease 157941 Huntington disease-like 1 280400, 306719 Disease 282166 Inherited Creutzfeldt-Jakob disease 280400, 306695, 307058 Disease 356 Gerstmann-Straussler-Scheinker syndrome 280400 Disease 280397 Familial Alzheimer-like prion disease 280400 Disease 263440 Neuroacanthocytosis 158266, 276058, 306695, 307058, 98534 Clinical group 98934 Huntington disease-like 2 263440 Disease 98549 Rare cerebrovascular dementia 158124, 89043 Category 85458 Hereditary cerebral amyloid angiopathy 444116, 477754, 69, 98549 Disease 100006 ABeta amyloidosis, Dutch type 85458 Clinical subtype 100008 ACys amyloidosis 85458 Clinical subtype 324703 ABetaL34V amyloidosis 85458 Clinical subtype 324708 ABeta amyloidosis, Iowa type 85458 Clinical subtype 324713 ABeta amyloidosis, Italian type 85458 Clinical subtype 324718 ABetaA21G amyloidosis 85458 Clinical subtype 324723 ABeta amyloidosis, Arctic type 85458 Clinical subtype 136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy 477754, 716459, 717348, 98549 Disease 575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy 477754, 98549 Disease 164736 Familial advanced sleep-phase syndrome 68354, 71859 Disease 168778 Rare pervasive developmental disorder 71859, 98033 Category 778 Rett syndrome 166472, 168778, 306765, 611314 Disease 3095 Atypical Rett syndrome 166472, 168778, 306765, 611314 Disease 168782 Childhood disintegrative disorder 168778 Disease 180772 Rare disease with autism 168778 Category 329195 Developmental delay with autism spectrum disorder and gait instability 180772 Disease 500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract 166472, 180772, 522548, 611314, 98641 Disease 589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder 180772, 611314 Disease 199627 Atypical autism 168778 Disease 600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance 168778, 611314, 68354 Malformation syndrome 561854 FOXG1 syndrome 166472, 168778, 306765, 611314 Disease 598164 FOXG1 syndrome due to intragenic alteration 561854 Clinical subtype 505652 CDKL5-deficiency disorder 168778, 306765, 611314, 693802 Disease 178506 Interstitial lung disease-brain calcification syndrome 71859, 98006 Disease 183497 Genetic neuromuscular disease 71859 Category 98495 Genetic neuromuscular junction disease 183497, 98491 Category 98505 Genetic motor neuron disease 183497, 98503 Category 85146 Neurogenic scapuloperoneal syndrome, Kaeser type 209041, 98505 Disease 137867 Madras motor neuron disease 98505 Disease 206701 Bulbospinal muscular atrophy 98505 Category 206704 Bulbospinal muscular atrophy of childhood 206701 Clinical group 206707 Bulbospinal muscular atrophy of adult 206701 Clinical group 481 Kennedy disease 182070, 183500, 206707, 399685 Disease 206710 Generalized bulbospinal muscular atrophy 206701 Clinical group 1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome 206710 Disease 206580 Autosomal recessive lower motor neuron disease with childhood onset 206710 Disease 207012 Spinal muscular atrophy associated with central nervous system anomaly 206701 Clinical group 211037 Autosomal dominant proximal spinal muscular atrophy 98505 Clinical group 209335 Autosomal dominant adult-onset proximal spinal muscular atrophy 211037 Disease 276435 Lower motor neuron syndrome with late-adult onset 211037 Disease 363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy 211037 Disease 209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy 363447 Etiological subtype 363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy 363447 Etiological subtype 247604 Juvenile primary lateral sclerosis 98505 Disease 293168 Infantile-onset ascending hereditary spastic paralysis 98505 Disease 300605 Juvenile amyotrophic lateral sclerosis 98505 Disease 357043 Amyotrophic lateral sclerosis type 4 182070, 183500, 98505 Disease 431255 Scapuloperoneal spinal muscular atrophy 98505 Disease 70 Proximal spinal muscular atrophy 98505 Disease 83330 Proximal spinal muscular atrophy type 1 70 Clinical subtype 83418 Proximal spinal muscular atrophy type 2 70 Clinical subtype 83419 Proximal spinal muscular atrophy type 3 70 Clinical subtype 83420 Proximal spinal muscular atrophy type 4 70 Clinical subtype 2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome 98261, 98505 Disease 206634 Genetic skeletal muscle disease 183497, 98472 Category 599 Distal myopathy 206634 Category 700143 X-linked distal myopathy 599 Category 700163 SMPX-related distal myopathy 700143 Disease 206650 Autosomal dominant distal myopathy 599 Category 603 Distal myopathy, Welander type 206650 Disease 609 Tibial muscular dystrophy 206650, 209053 Disease 600 Vocal cord and pharyngeal distal myopathy 206650 Disease 59135 Laing distal myopathy 206650, 209185 Disease 63273 FLNC-related handgrip and calf weakness-distal myopathy 206650 Disease 98911 Distal myotilinopathy 206650, 209224 Disease 98912 Late-onset distal myopathy, Markesbery-Griggs type 206650, 209050, 593 Disease 329478 Adult-onset distal myopathy due to VCP mutation 206650 Disease 399081 KLHL9-related early-onset distal myopathy 206650 Disease 399086 HNRNPA1-related adult-onset distal myopathy 206650 Disease 696063 PLIN4-related distal myopathy 206650 Disease 700154 TARDBP-related predominantly upper-limb distal myopathy 206650 Disease 700170 DNAJB4-related distal myopathy 206650, 593 Disease 700188 Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy 206650 Disease 488650 Distal myopathy, Tateyama type 206650, 207078 Disease 206653 Autosomal recessive distal myopathy 599 Category 45448 Miyoshi myopathy 206653, 207073 Disease 178400 Distal myopathy with anterior tibial onset 206653, 207073 Disease 399096 Distal anoctaminopathy 206653 Disease 399103 Autosomal recessive distal nebulin myopathy 206653 Disease 689021 Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome 206653 Disease 482601 Adenylosuccinate synthetase-like 1-related distal myopathy 206653 Disease 88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates 206634, 209199 Disease 98473 Muscular dystrophy 206634 Category 97242 Congenital muscular dystrophy 98473 Category 258 Laminin subunit alpha 2-related congenital muscular dystrophy 207094, 611314, 97242 Malformation syndrome 1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome 522548, 97242, 98641 Disease 34520 Congenital muscular dystrophy with integrin alpha-7 deficiency 207098, 97242 Disease 97244 Rigid spine syndrome 209041, 209193, 97242 Disease 98893 Congenital muscular dystrophy type 1B 97242 Disease 157973 Congenital muscular dystrophy due to LMNA mutation 300755, 97242 Disease 199329 Congenital myopathy, Paradas type 207073, 97242 Disease 370953 Congenital muscular dystrophy due to dystroglycanopathy 97242 Category 371007 Congenital muscular dystrophy with hyperlaxity 97242 Disease 486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome 611314, 97242 Disease 646098 Collagen VI-related congenital muscular dystrophy 207090, 97242 Clinical group 610 Bethlem muscular dystrophy 206644, 646098 Disease 75840 Ullrich congenital muscular dystrophy 646098 Disease 646113 Intermediate collagen VI-related muscular dystrophy 646098 Disease 662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome 522548, 611314, 97242, 98641 Disease 206644 Progressive muscular dystrophy 98473 Category 269 Facioscapulohumeral dystrophy 206644 Disease 263 Limb-girdle muscular dystrophy 206644 Clinical group 102014 Autosomal dominant limb-girdle muscular dystrophy 263 Category 565909 Calpain-3-related limb-girdle muscular dystrophy D4 102014, 207104 Disease 34516 DNAJB6-related limb-girdle muscular dystrophy D1 102014 Disease 55595 TNP03-related limb-girdle muscular dystrophy D2 102014 Disease 55596 HNRNPDL-related limb-girdle muscular dystrophy D3 102014 Disease 102015 Autosomal recessive limb-girdle muscular dystrophy 263 Category 565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 102015, 207094 Disease 267 Calpain-3-related limb-girdle muscular dystrophy R1 102015, 207104 Disease 1878 TRIM32-related limb-girdle muscular dystrophy R8 102015, 207107 Disease 268 Dysferlin-related limb-girdle muscular dystrophy R2 102015, 207073 Disease 34514 Telethonin-related limb-girdle muscular dystrophy R7 102015, 209056 Disease 140922 Titin-related limb-girdle muscular dystrophy R10 102015, 209053 Disease 206549 Anoctamin-5-related limb-girdle muscular dystrophy R12 102015, 207122 Disease 254361 Plectin-related limb-girdle muscular dystrophy R17 102015, 209196 Disease 369840 TRAPPC11-related limb-girdle muscular dystrophy R18 102015 Disease 424261 TOR1AIP1-related limb-girdle muscular dystrophy 102015, 424925 Disease 653725 Autosomal recessive limb-girdle muscular dystrophy, type 28 102015 Disease 25980 X-linked myopathy with excessive autophagy 206644, 206662 Disease 178461 X-linked myopathy with postural muscle atrophy 206644 Disease 178464 Hereditary myopathy with early respiratory failure 206644, 206662, 209053 Disease 206647 Myotonic dystrophy 206644, 206970 Clinical group 431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies 206644 Clinical group 431272 X-linked scapuloperoneal muscular dystrophy 431263 Disease 466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome 206644 Disease 447977 Progressive scapulohumeroperoneal distal myopathy 206644 Disease 206656 Non-dystrophic myopathy 206634 Category 521305 Proximal myopathy with focal depletion of mitochondria 206656 Disease 593 Myofibrillar myopathy 206656 Category 98910 Alpha-crystallinopathy 209044, 593 Clinical group 280553 Fatal infantile hypertonic myofibrillar myopathy 476403, 98910 Disease 209224 Myotilinopathy 207049, 593 Category 268129 Spheroid body myopathy 209224 Disease 171445 Muscle filaminopathy 209047, 593 Disease 199340 BAG3-related myofibrillar myopathy 593 Disease 476403 Hypercontractile muscle stiffness syndrome 593 Clinical group 496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome 593 Disease 972 Hereditary continuous muscle fiber activity 206656, 98741 Disease 53347 Brody myopathy 206656, 209199 Disease 97238 Rippling muscle disease 206656, 207078 Disease 97245 Congenital myopathy 206656 Category 2020 Congenital fiber-type disproportion myopathy 209059, 209193, 284790, 97245 Disease 2593 Tubular aggregate myopathy 97245 Disease 3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome 611314, 97245 Disease 595 Centronuclear myopathy 97245 Clinical group 169186 Autosomal recessive centronuclear myopathy 209053, 595, 98742 Disease 169189 Autosomal dominant centronuclear myopathy 595 Disease 604680 Symptomatic form of X-linked centronuclear myopathy in female carriers 207110, 595 Disease 319160 Congenital myopathy with internal nuclei and atypical cores 172976, 595 Disease 53698 Myosin storage myopathy 209185, 97245 Disease 636965 Autosomal dominant myosin storage myopathy 53698 Clinical subtype 636970 Autosomal recessive myosin storage myopathy 53698 Clinical subtype 97232 Fingerprint body myopathy 97245 Disease 97239 Reducing body myopathy 97245 Disease 97240 Zebra body myopathy 97245 Disease 98904 Congenital myopathy with excess of thin filaments 209059, 97245 Disease 171881 Cap myopathy 284790, 97245 Disease 171886 Cylindrical spirals myopathy 97245 Disease 171889 Myopathy with hexagonally cross-linked tubular arrays 97245 Disease 172976 Congenital myopathy with cores 97245 Clinical group 597 Central core disease 172976, 98742 Disease 598 Multiminicore myopathy 172976, 209193, 466658 Disease 98905 Congenital multicore myopathy with external ophthalmoplegia 598, 98742 Clinical subtype 178145 Moderate multiminicore disease with hand involvement 598, 98742 Clinical subtype 178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita 598 Clinical subtype 324604 Classic multiminicore myopathy 598 Clinical subtype 324581 Benign Samaritan congenital myopathy 97245, 98742 Disease 363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome 97245 Disease 424107 Congenital myopathy with myasthenic-like onset 97245, 98742 Disease 439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome 97245 Disease 544602 Congenital myopathy with reduced type 2 muscle fibers 97245 Disease 457074 Congenital nemaline myopathy 97245 Clinical group 98902 Amish nemaline myopathy 284786, 457074, 607 Disease 171430 Severe congenital nemaline myopathy 209059, 209182, 457074, 607 Disease 171433 Intermediate nemaline myopathy 209059, 209182, 284790, 457074, 607 Disease 171436 Typical nemaline myopathy 209059, 209182, 284790, 457074, 607 Disease 98486 Metabolic myopathy 206656 Category 206966 Mitochondrial myopathy 98486 Category 171690 Metabolic myopathy due to lactate transporter defect 98486 Disease 206953 Muscular lipidosis 98486 Category 206959 Muscular glycogenosis 98486 Clinical group 206662 Inclusion myopathy 206656 Category 79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome 206662 Disease 84132 Desmin-related myopathy with Mallory body-like inclusions 206662, 209041, 209193 Disease 324381 Hereditary inclusion body myopathy type 4 206662 Disease 363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia 206662, 519347, 522522 Disease 401768 Proximal myopathy with extrapyramidal signs 182070, 183500, 206656, 306695, 307058, 611314 Disease 607 Nemaline myopathy 206656 Clinical group 171439 Childhood-onset nemaline myopathy 209059, 209182, 284790, 607 Disease 171442 Adult-onset nemaline myopathy 209059, 209182, 607 Disease 289380 Myosclerosis 206656, 207090 Disease 206970 Myotonic syndrome 206634 Category 684 Paramyotonia congenita of Von Eulenburg 206970, 98738 Disease 612 Potassium-aggravated myotonia 206970, 98738 Clinical group 99734 Myotonia fluctuans 612 Disease 99735 Myotonia permanens 612 Disease 99736 Acetazolamide-responsive myotonia 612 Disease 206973 Congenital myotonia 206970 Clinical group 614 Thomsen and Becker disease 206973, 98739 Disease 371433 Genetic periodic paralysis 206634 Category 682 Hyperkalemic periodic paralysis 206976, 371433, 98738 Disease 397755 Periodic paralysis with transient compartment-like syndrome 206976, 371433, 98740 Disease 207049 Qualitative or quantitative protein defects in neuromuscular diseases 183497 Category 207052 Qualitative or quantitative defects of sarcoglycan 207049 Category 207060 Qualitative or quantitative defects of alpha-sarcoglycan 207052 Category 207063 Qualitative or quantitative defects of beta-sarcoglycan 207052 Category 207067 Qualitative or quantitative defects of gamma-sarcoglycan 207052 Category 207070 Qualitative or quantitative defects of delta-sarcoglycan 207052 Category 207073 Qualitative or quantitative defects of dysferlin 207049 Category 207078 Qualitative or quantitative defects of caveolin-3 207049 Category 206599 Isolated asymptomatic elevation of creatine phosphokinase 207078, 207085 Biological anomaly 207085 Qualitative or quantitative defects of dystrophin 207049 Category 207090 Qualitative or quantitative defects of collagen 6 207049 Category 207094 Laminin subunit alpha 2-related muscular dystrophy 207049 Category 207098 Qualitative or quantitative defects of integrin alpha-7 207049 Category 207101 Qualitative or quantitative defects of perlecan 207049 Category 207104 Qualitative or quantitative defects of calpain 207049 Category 207107 Qualitative or quantitative defects of TRIM32 207049 Category 207110 Qualitative or quantitative defects of myotubularin 207049 Category 209038 Qualitative or quantitative defects of myofibrillar proteins 207049 Category 209041 Qualitative or quantitative defects of desmin 209038 Category 209044 Qualitative or quantitative defects of alphaB-cristallin 209038 Category 209047 Qualitative or quantitative defects of filamin C 209038 Category 209050 Qualitative or quantitative defects of protein ZASP 209038 Category 209053 Qualitative or quantitative defects of titin 207049 Category 209056 Qualitative or quantitative defects of telethonin 207049 Category 209059 Qualitative or quantitative defects of alpha-actin 207049 Category 209182 Qualitative or quantitative defects of nebulin 207049 Category 209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7) 207049 Category 209188 Qualitative or quantitative defects of emerin 207049 Category 209193 Qualitative or quantitative defects of selenoprotein N1 207049 Category 209196 Qualitative or quantitative defects of plectin 207049 Category 209199 Qualitative or quantitative defects of protein SERCA1 207049 Category 209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase - 207049 Category 284786 Qualitative or quantitative defects of troponin 207049 Category 284790 Qualitative or quantitative defects of tropomyosin 207049 Category 371024 Qualitative or quantitative defects of alpha-dystroglycan 207049 Category 207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan 371024 Category 207119 Qualitative or quantitative defects of FKRP 207113 Category 207122 Qualitative or quantitative defects of fukutin 207113 Category 209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase 207113 Category 209027 Qualitative or quantitative defects of protein glycosyltransferase-like 207113 Category 209030 Qualitative or quantitative defects of protein O-mannosyltransferase 1 207113 Category 209033 Qualitative or quantitative defects of protein O-mannosyltransferase 2 207113 Category 371040 Primary qualitative or quantitative defects of alpha-dystroglycan 371024 Category 424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1 207049 Category 98737 Genetic neurological muscular channelopathy 183497, 71864 Category 98738 Neurological muscular channelopathy due to a genetic sodium channel defect 98737 Category 98739 Neurological muscular channelopathy due to a genetic chloride channel defect 98737 Category 98740 Neurological muscular channelopathy due to a genetic calcium channel defect 98737 Category 98741 Neurological muscular channelopathy due to a genetic potassium channel defect 98737 Category 36899 Myoclonus-dystonia syndrome 306750, 391711, 98741 Disease 98742 Neurological muscular channelopathy due to a genetic ryanodine receptor defect 98737 Category 423 Malignant hyperthermia of anesthesia 466658, 98742 Disease 183500 Genetic neurodegenerative disease 71859 Category 685 Hereditary spastic paraplegia 182070, 183500 Clinical group 102012 Pure hereditary spastic paraplegia 685 Clinical group 100980 Autosomal dominant pure spastic paraplegia 102012 Clinical group 100993 Autosomal dominant spastic paraplegia type 12 100980 Disease 100999 Autosomal dominant spastic paraplegia type 19 100980 Disease 171612 Autosomal dominant spastic paraplegia type 37 100980 Disease 171863 Autosomal dominant spastic paraplegia type 42 100980 Disease 320355 Autosomal dominant spastic paraplegia type 41 100980 Disease 401849 Autosomal spastic paraplegia type 72 100980, 100982 Disease 444099 Autosomal dominant spastic paraplegia type 73 100980 Disease 689231 IFIH1-related hereditary spastic paraplegia 100980 Disease 694356 ADAR-related hereditary spastic paraplegia 100980 Disease 631068 Autosomal dominant spastic paraplegia type 80 100980 Disease 100982 Autosomal recessive pure spastic paraplegia 102012 Clinical group 101004 Autosomal recessive spastic paraplegia type 24 100982 Disease 101008 Autosomal recessive spastic paraplegia type 28 100982 Disease 401785 Autosomal recessive spastic paraplegia type 62 100982 Disease 401840 Autosomal recessive spastic paraplegia type 71 100982 Disease 631076 Autosomal recessive spastic paraplegia type 83 100982 Disease 689234 RNASEH2B-related hereditary spastic paraplegia 100982 Disease 320332 X-linked pure spastic paraplegia 102012 Clinical group 171607 X-linked spastic paraplegia type 34 320332 Disease 102013 Complex hereditary spastic paraplegia 685 Clinical group 98888 X-linked complex spastic paraplegia 102013 Clinical group 100979 Autosomal dominant complex spastic paraplegia 102013 Clinical group 447753 Autosomal dominant spastic paraplegia type 9A 100979, 522548, 98641 Disease 2819 Spastic paraplegia-facial-cutaneous lesions syndrome 100979 Malformation syndrome 2821 Spastic paraplegia-neuropathy-poikiloderma syndrome 100979 Disease 2826 Spastic paraplegia-precocious puberty syndrome 100979 Disease 101009 Autosomal dominant spastic paraplegia type 29 100979 Disease 171617 Autosomal dominant spastic paraplegia type 38 100979 Disease 320365 Autosomal dominant spastic paraplegia type 36 100979 Disease 329475 Spastic paraplegia-Paget disease of bone syndrome 100979 Disease 100981 Autosomal recessive complex spastic paraplegia 102013 Clinical group 477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome 100981, 611314 Disease 459056 Autosomal recessive spastic paraplegia type 75 100981, 611314 Disease 2818 Spastic paraplegia-glaucoma-intellectual disability syndrome 100981, 611314, 98638 Disease 100996 Kjellin syndrome 100981, 611314, 716427 Disease 101000 Autosomal recessive spastic paraplegia type 20 100981, 611314 Disease 101003 Autosomal recessive spastic paraplegia type 23 100981 Disease 101005 Autosomal recessive spastic paraplegia type 25 100981 Disease 101006 Autosomal recessive spastic paraplegia type 26 100981, 611314 Disease 171622 Autosomal recessive spastic paraplegia type 32 100981 Disease 280763 Severe intellectual disability and progressive spastic paraplegia 100981, 611314 Disease 319199 Autosomal recessive spastic paraplegia type 53 100981, 611314 Disease 320370 Autosomal recessive spastic paraplegia type 43 100981 Disease 320380 Autosomal recessive spastic paraplegia type 54 100981, 611314 Disease 320391 Autosomal recessive spastic paraplegia type 46 100981, 611314 Disease 320401 Autosomal recessive spastic paraplegia type 44 100981 Disease 397946 Autosomal spastic paraplegia type 58 100981 Disease 401780 Autosomal recessive spastic paraplegia type 61 100981 Disease 401795 Autosomal recessive spastic paraplegia type 59 100981 Disease 401800 Autosomal recessive spastic paraplegia type 60 100981 Disease 401805 Autosomal recessive spastic paraplegia type 63 100981 Disease 401810 Autosomal recessive spastic paraplegia type 64 100981, 611314 Disease 401815 Autosomal recessive spastic paraplegia type 66 100981 Disease 401830 Autosomal recessive spastic paraplegia type 69 100981 Disease 401835 Autosomal recessive spastic paraplegia type 70 100981 Disease 447760 Autosomal recessive spastic paraplegia type 9B 100981, 611314 Disease 101001 Autosomal recessive spastic paraplegia type 21 100981 Disease 171629 Autosomal recessive spastic paraplegia type 35 100981 Disease 496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome 100981 Disease 488594 Autosomal recessive spastic paraplegia type 76 100981 Disease 631073 Autosomal recessive spastic paraplegia type 82 100981 Disease 631079 Autosomal recessive spastic paraplegia type 84 100981 Disease 513436 Autosomal recessive spastic paraplegia type 78 100981 Disease 631082 Autosomal recessive spastic paraplegia type 85 100981 Disease 631085 Autosomal recessive spastic paraplegia type 86 100981 Disease 320360 MT-ATP6-related mitochondrial spastic paraplegia 102013 Disease 320335 Pure or complex hereditary spastic paraplegia 685 Clinical group 320342 Pure or complex autosomal dominant spastic paraplegia 320335 Clinical group 101010 Autosomal spastic paraplegia type 30 320342, 320346 Disease 209951 Autosomal spastic paraplegia type 18 320342, 611314 Disease 100984 Autosomal dominant spastic paraplegia type 3 320342 Disease 100985 Autosomal dominant spastic paraplegia type 4 320342 Disease 100988 Autosomal dominant spastic paraplegia type 6 320342 Disease 100991 Autosomal dominant spastic paraplegia type 10 320342, 611314 Disease 100994 Autosomal dominant spastic paraplegia type 13 320342 Disease 101011 Autosomal dominant spastic paraplegia type 31 320342 Disease 447757 Autosomal dominant spastic paraplegia type 9B 320342 Disease 100989 Autosomal dominant spastic paraplegia type 8 320342 Disease 320346 Pure or complex autosomal recessive spastic paraplegia 320335 Clinical group 631088 Autosomal recessive spastic paraplegia type 87 320346 Disease 2822 Autosomal recessive spastic paraplegia type 11 320346, 611314 Disease 100986 Autosomal recessive spastic paraplegia type 5A 320346 Disease 100995 Autosomal recessive spastic paraplegia type 14 320346 Disease 320396 Autosomal recessive spastic paraplegia type 45 320346, 611314 Disease 320411 Autosomal recessive spastic paraplegia type 56 320346, 611314 Disease 101007 Autosomal recessive spastic paraplegia type 27 320346 Disease 320350 Pure or complex X-linked spastic paraplegia 320335 Clinical group 59 Allan-Herndon-Dudley syndrome 320350, 596426, 611314 Disease 100997 X-linked spastic paraplegia type 16 320350 Disease 35689 Primary lateral sclerosis 182070, 183500, 98503 Disease 85162 Facial onset sensory and motor neuronopathy 182070, 183500 Disease 85292 X-linked spinocerebellar ataxia type 4 183500, 247765, 611314, 89043 Disease 85334 X-linked neurodegenerative syndrome, Bertini type 182070, 183500, 611314 Disease 85336 X-linked neurodegenerative syndrome, Hamel type 182070, 183500, 611314 Disease 158266 Huntington disease-like syndrome 183500, 89043 Clinical group 494541 Childhood-onset benign chorea with striatal involvement 158266, 306719 Disease 1429 Benign hereditary chorea 158266, 306719 Disease 157946 Huntington disease-like 3 158266, 182070, 306695, 307058 Disease 803 Amyotrophic lateral sclerosis 182070, 183500, 98503 Disease 352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome 182070, 183500, 441434 Disease 363969 Autosomal recessive cerebral atrophy 182070, 183500 Disease 391343 Fatal post-viral neurodegenerative disorder 102005, 182070, 183500 Disease 1576 Infantile bilateral striatal necrosis 182070, 183500, 306695, 307058, 611314 Clinical group 225147 Sporadic infantile bilateral striatal necrosis 1576 Disease 225154 Familial infantile bilateral striatal necrosis 1576 Disease 621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome 182070, 183500, 264694, 264992, 477754 Disease 497906 Childhood-onset basal ganglia degeneration syndrome 182070, 183500, 370106 Disease 500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder 182070, 183500, 306695, 307058, 611314 Disease 183503 Genetic central nervous system and retinal vascular disease 71859 Category 891 Familial exudative vitreoretinopathy 183503, 71281, 716441, 716466, 717345 Disease 477771 Rare disorder with a moyamoya angiopathy 183503, 477768 Category 232 Sickle cell anemia 275752, 399185, 477771, 93614 Disease 477754 Genetic cerebral small vessel disease 183503, 71281 Category 247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations 182228, 477647, 477754, 716459, 717348 Disease 313838 Coats plus syndrome 477754, 716459, 717348 Disease 542310 Leukoencephalopathy with calcifications and cysts 477754 Disease 477759 COL4A1 or COL4A2-related cerebral small vessel disease 477754 Category 477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency 477759 Clinical group 36383 COL4A1/2-related familial vascular leukoencephalopathy 477765 Disease 73229 HANAC syndrome 477765, 544590 Disease 75326 Familial isolated retinal arteriolar tortuosity 477765 Disease 477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency 477759 Clinical group 477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy 477762 Disease 314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome 477754, 716405 Disease 689001 Isolated spontaneous cervical artery dissection 183503, 496924, 71281 Disease 140989 Primary angiitis of the central nervous system 156143, 156146, 183503, 71281 Disease 371436 Genetic neurovascular malformation 183503 Category 231160 Familial cerebral saccular aneurysm 102006, 371436 Disease 183506 Genetic central nervous system malformation 183530, 71859 Category 269550 Genetic non-syndromic central nervous system malformation 183506 Category 269553 Genetic cerebral malformation 269550 Category 269557 Genetic posterior fossa malformation 269550 Category 269560 Genetic cerebellar malformation 269557 Category 269564 Genetic syndrome with a central nervous system malformation as a major feature 183506 Category 269567 Genetic syndrome with a cerebellar malformation as a major feature 269564 Category 269570 Genetic syndrome with a Dandy-Walker malformation as a major feature 269567 Category 269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature 269564 Category 183509 Rare genetic headache 71859 Category 183512 Rare genetic epilepsy 71859 Category 166481 Metabolic diseases with epilepsy 101998, 183512 Category 225681 Lysosomal disease with epilepsy 166481 Category 371442 Sphingolipidosis with epilepsy 225681 Category 225686 Peroxisomal disease with epilepsy 166481 Category 225689 Amino acid or protein metabolism disease with epilepsy 166481 Category 225692 Metal transport or utilization disorder with epilepsy 166481 Category 225696 Energy metabolism disorder with epilepsy 166481 Category 225700 Mitochondrial disease with epilepsy 225696 Category 225707 Metabolic neurotransmission anomaly with epilepsy 166481 Category 225710 Sterol metabolism disorder with epilepsy 166481 Category 225713 Other metabolic disease with epilepsy 166481 Category 79134 DEND syndrome 166481, 224 Disease 166469 Chromosomal anomaly with epilepsy as a major feature 101998, 183512 Category 166463 Epilepsy syndrome 101998, 183512 Category 98259 Childhood-onset epilepsy syndrome 166463 Category 1942 Epilepsy with myoclonic-atonic seizures 611314, 98259 Disease 309 Familial partial epilepsy 166475, 182083, 98259, 98260 Clinical group 98819 Familial temporal lobe epilepsy 309 Disease 99701 Mesial temporal lobe epilepsy with hippocampal sclerosis 309 Disease 163717 Familial mesial temporal lobe epilepsy 309 Disease 725 Developmental and epileptic encephalopathy with spike-wave activation in sleep 98259 Disease 25968 Self-limited childhood occipital epilepsy 98259 Disease 98815 Self-limited epilepsy with autonomic seizures 25968 Clinical subtype 98816 Childhood occipital visual epilepsy 25968 Clinical subtype 98818 Landau-Kleffner syndrome 98259 Disease 163708 Cryptogenic late-onset epileptic spasms 98259 Disease 163721 Rolandic epilepsy-speech dyspraxia syndrome 611314, 98259 Disease 163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome 98259 Disease 289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation 611314, 98259 Disease 86911 Epilepsy with myoclonic absences 306759, 98259 Disease 86908 Hemiconvulsion-hemiplegia-epilepsy syndrome 98259 Disease 98260 Adolescent-onset epilepsy syndrome 166463 Category 86814 Familial adult myoclonic epilepsy 306750, 98260 Disease 693802 Neonatal-infantile onset epilepsy syndrome 166463 Clinical group 166308 Benign infantile focal epilepsy with midline spikes and waves during sleep 693802 Disease 163681 CNTNAP2-related developmental and epileptic encephalopathy 611314, 693802 Disease 599373 STXBP1-related encephalopathy 611314, 693802 Disease 697160 Infantile epileptic spasms syndrome 693802 Disease 1943 Early-onset progressive encephalopathy with migrant continuous myoclonus 693802 Disease 209370 MECP2-related severe neonatal encephalopathy 166472, 693802 Disease 86909 Myoclonic epilepsy of infancy 693802 Disease 544254 SYNGAP1-related developmental and epileptic encephalopathy 611314, 693802 Disease 86906 Gelastic seizures with hypothalamic hamartoma 166478, 693802 Disease 699645 Variable age-onset epilepsy syndrome 166463 Clinical group 86913 Myoclonic epilepsy in non-progressive encephalopathies 699645 Malformation syndrome 698005 Epilepsy with generalized tonic-clonic seizures alone 699645 Disease 1941 Juvenile absence epilepsy 699645 Disease 98820 Familial focal epilepsy with variable foci 699645 Disease 101046 Epilepsy with auditory features 699645 Disease 310 Reflex epilepsy 699645 Clinical group 166409 Photosensitive occipital lobe epilepsy 310 Disease 166412 Hot water reflex epilepsy 310 Disease 166415 Audiogenic epilepsy 310 Disease 166418 Eating reflex epilepsy 310 Disease 166421 Orgasm-induced epilepsy 310 Disease 166424 Thinking epilepsy 310 Disease 166427 Startle epilepsy 310 Disease 166430 Micturition-induced epilepsy 310 Disease 166433 Epilepsy with reading-induced seizures 310 Disease 98261 Progressive myoclonic epilepsy 306756, 699645 Clinical group 501 Lafora disease 98261 Disease 308 Progressive myoclonic epilepsy type 1 611314, 98261 Disease 85110 Familial encephalopathy with neuroserpin inclusion bodies 250808, 98261 Disease 530303 Progressive dementia with neuroserpin inclusion bodies 85110 Clinical subtype 530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies 85110 Clinical subtype 280620 Progressive myoclonic epilepsy type 6 98261 Disease 324290 PRDM8-related progressive myoclonus epilepsy 98261 Disease 402082 Progressive myoclonic epilepsy type 5 98261 Disease 457265 Progressive myoclonic epilepsy type 9 98261 Disease 166466 Neurocutaneous syndrome with epilepsy 101998, 183512 Category 166472 Monogenic disease with epilepsy 101998, 183512 Category 428 Autosomal dominant hypocalcemia 166472, 2238 Clinical subtype 3173 Infantile spasms-broad thumbs syndrome 166472, 522548, 98641 Disease 99989 Intermediate DEND syndrome 166472, 224 Disease 2076 X-linked intellectual disability-epilepsy syndrome 166472, 611314 Clinical group 93952 X-linked intellectual disability, Hedera type 2076 Disease 163985 Hyperekplexia-epilepsy syndrome 183521, 2076, 306773 Disease 85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome 166472, 611314 Disease 182079 ARX-related epileptic encephalopathy 166472 Clinical group 3175 X-linked spasticity-intellectual disability-epilepsy syndrome 182079, 611314 Disease 94083 Partington syndrome 182079, 611314 Malformation syndrome 364063 Infantile epileptic-dyskinetic encephalopathy 182079, 391711 Disease 182083 Channelopathy with epilepsy 166472 Category 352582 Familial infantile myoclonic epilepsy 166472, 611314 Disease 352596 Progressive myoclonic epilepsy with dystonia 166472 Disease 391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression 166472 Disease 435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome 166472 Malformation syndrome 488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome 166472, 519343, 522508, 611314 Malformation syndrome 163696 Action myoclonus-renal failure syndrome 166472, 567562 Disease 397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome 166472, 611314 Disease 101685 Rare non-syndromic intellectual disability 166472, 183757, 87277 Disease 777 X-linked non-syndromic intellectual disability 101685 Etiological subtype 88616 Autosomal recessive non-syndromic intellectual disability 101685 Etiological subtype 178469 Autosomal dominant non-syndromic intellectual disability 101685 Etiological subtype 592564 GNAO1-related developmental delay-seizures-movement disorder spectrum 166472, 494457, 496916, 522520, 611314 Disease 662367 NESCAV syndrome 166472, 611314 Disease 166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes 101998, 183512 Category 166478 Cerebral malformation with epilepsy 101998, 183512 Category 166487 Cerebral diseases of vascular origin with epilepsy 101998, 183512 Category 183515 Rare genetic medullar disease 71859 Category 2285 Primary basilar invagination 102000, 183515 Morphological anomaly 2585 Ataxia-pancytopenia syndrome 102000, 183515 Malformation syndrome 183518 Hereditary ataxia 102002, 71859 Category 1178 Ataxia-tapetoretinal degeneration syndrome 183518 Disease 1173 Cerebellar ataxia-hypogonadism syndrome 181387, 183518 Disease 1180 Ataxia-hypogonadism-choroidal dystrophy syndrome 181387, 183518, 716342 Disease 1185 Spinocerebellar ataxia-dysmorphism syndrome 183518 Disease 2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome 183518, 716405 Disease 211062 Hereditary episodic ataxia 183518 Category 79135 Episodic ataxia type 3 211062 Disease 79136 Episodic ataxia type 4 211062 Disease 209967 Episodic ataxia type 6 211062 Disease 209970 Episodic ataxia type 7 211062 Disease 211067 Episodic ataxia type 5 211062 Disease 401953 Episodic ataxia with slurred speech 211062 Disease 247765 X-linked cerebellar ataxia 183518 Category 1175 X-linked progressive cerebellar ataxia 247765, 611314 Disease 85338 X-linked intellectual disability-ataxia-apraxia syndrome 247765, 611314 Disease 93256 Fragile X-associated tremor/ataxia syndrome 247765, 306712, 307061 Malformation syndrome 314978 X-linked non progressive cerebellar ataxia 247765 Disease 316226 Spastic ataxia 183518 Clinical group 316235 Autosomal dominant spastic ataxia 316226 Category 1182 Spastic ataxia with congenital miosis 316235, 519286, 522568 Disease 251282 Autosomal dominant spastic ataxia type 1 316235 Disease 316240 Autosomal recessive spastic ataxia 316226 Category 98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay 316240 Disease 2572 Spastic ataxia-corneal dystrophy syndrome 316240, 522548, 98628, 98641 Disease 2672 Neuhauser-Eichner-Opitz syndrome 183518 Malformation syndrome 183521 Rare genetic movement disorder 71859 Category 238722 Familial congenital mirror movements 102003, 183521, 611314 Disease 496916 Rare genetic hyperkinetic movement disorder 183521 Category 306719 Neurodegenerative disease with chorea 306715, 496916 Category 209905 Brain-lung-thyroid syndrome 100049, 177107, 306719, 611314 Disease 306765 Motor stereotypies 494457, 496916 Category 307061 Rare genetic tremor disorder 496916 Category 53372 Hereditary geniospasm 306712, 307061 Disease 307064 Rare genetic myoclonus 496916 Category 306750 Primary myoclonus 306747, 307064 Category 319189 Familial cortical myoclonus 306750 Disease 221083 Hemifacial spasm 306750 Disease 307067 Rare genetic disease with myoclonus as a major feature 307064 Category 306756 Epilepsy and/or ataxia with myoclonus as a major feature 306753, 307067 Category 306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature 306756 Category 391799 Rare genetic dystonia 496916 Category 98203 Combined dystonia 391799, 68363 Category 200037 Paroxysmal dystonia 306768, 98203 Clinical group 1431 Paroxysmal dyskinesia 200037 Clinical group 98810 Paroxysmal non-kinesigenic dyskinesia 1431 Disease 98811 Paroxysmal exertion-induced dyskinesia 1431, 611314 Disease 53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity 200037 Disease 71518 Benign paroxysmal torticollis of infancy 200037 Disease 391711 Persistent combined dystonia 98203 Clinical group 589618 Dystonia 28 391711, 611314 Disease 53351 X-linked dystonia-parkinsonism 306666, 307055, 391711 Disease 71517 Rapid-onset dystonia-parkinsonism 307052, 391711, 68402 Disease 210571 Dystonia 16 306666, 307055, 391711 Disease 238455 Infantile dystonia-parkinsonism 306666, 307055, 391711, 611314 Disease 370109 Ataxia-telangiectasia variant 391711 Disease 412217 Dystonia-aphonia syndrome 391711 Disease 156159 Isolated dystonia 391799, 68363 Category 1866 Focal, segmental or multifocal dystonia 156159 Category 93958 Oromandibular dystonia 1866 Disease 93964 Blepharospasm-oromandibular dystonia syndrome 1866 Disease 98805 Primary dystonia, DYT4 type 1866 Disease 98807 Primary dystonia, DYT13 type 1866 Disease 99657 Primary dystonia, DYT2 type 1866 Disease 329466 Autosomal dominant focal dystonia, DYT25 type 1866 Disease 370103 Primary dystonia, DYT17 type 1866 Disease 420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement 1866 Disease 420492 Adult-onset cervical dystonia, DYT23 type 1866 Disease 464440 Primary dystonia, DYT27 type 1866 Disease 494526 Infantile-onset generalized dyskinesia with orofacial involvement 1866, 611314 Disease 376724 Generalized isolated dystonia 156159 Category 256 Early-onset generalized limb-onset dystonia 376724 Disease 98806 Primary dystonia, DYT6 type 376724 Disease 306734 Primary dystonia, DYT21 type 376724 Disease 370106 Rare disorder with dystonia and other neurologic or systemic manifestation 391799, 68363 Category 597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome 370106 Disease 660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome 370106, 611314 Disease 660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation 660017 Etiological subtype 1617 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion 660017 Etiological subtype 522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome 494457, 496916, 522520, 611314, 98683 Disease 306768 Rare paroxysmal movement disorder 102003, 183521 Category 1179 Benign paroxysmal tonic upgaze of childhood with ataxia 306768 Disease 324588 Familial dyskinesia and facial myokymia 306768 Disease 307052 Rare genetic parkinsonian disorder 183521 Category 307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease 307052 Category 2828 Young-onset Parkinson disease 182058, 306666, 307055, 448426 Disease 2379 Early-onset parkinsonism-intellectual disability syndrome 306666, 307055, 611314 Disease 171695 Parkinsonian-pyramidal syndrome 306666, 307055 Disease 178509 Perry syndrome 306666, 307055 Disease 228169 Autosomal dominant striatal neurodegeneration 306666, 307055 Disease 306669 Hemiparkinsonism-hemiatrophy syndrome 306666, 307055 Disease 514980 ATP13A2-related parkinsonism 306666, 307055 Clinical group 363654 X-linked parkinsonism-spasticity syndrome 306666, 307055 Disease 391411 Atypical juvenile parkinsonism 306666, 307055 Disease 307058 Miscellaneous movement disorder due to genetic neurodegenerative disease 183521 Category 306708 Frontotemporal neurodegeneration with movement disorder 306695, 307058 Category 454887 Corticobasal syndrome 306666, 306708, 98535 Disease 369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome 183521, 306715, 611314 Disease 183757 Rare genetic intellectual disability 71859 Category 183763 Rare genetic syndromic intellectual disability 183757 Category 611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability 183533, 183763 Category 611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome 102369, 183763 Category 168577 Hereditary cryohydrocytosis with reduced stomatin 611314, 98365 Disease 541423 Growth delay-intellectual disability-hepatopathy syndrome 101939, 156604, 611314 Disease 2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome 181381, 183625, 611314 Disease 1571 Knobloch syndrome 611314, 716427, 716446 Malformation syndrome 791 Retinitis pigmentosa 156168, 156171, 611314, 716410, 717324 Disease 3204 Stormorken-Sjaastad-Langslet syndrome 477794, 519286, 522568, 611314 Disease 641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome 611314 Disease 641353 Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome 611314 Disease 643549 Hao-Fountain syndrome 611314 Disease 643538 Hao-Fountain syndrome due to USP7 mutation 643549 Etiological subtype 647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome 611314 Disease 674653 Actinomyopathy-associated syndromic thrombocytopenia 477794, 611314, 674648 Disease 675767 Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency 331184, 611314 Disease 692173 Marbach-Schaaf neurodevelopmental syndrome 611314 Disease 100974 FRAXF syndrome 611314 Disease 73272 Growth delay due to insulin-like growth factor type 1 deficiency 181393, 611314 Disease 93607 Autosomal recessive proximal renal tubular acidosis 47159, 611314 Clinical subtype 67045 X-linked intellectual disability with isolated growth hormone deficiency 231692, 611314 Clinical subtype 85277 X-linked intellectual disability, Cantagrel type 611314 Malformation syndrome 85290 X-linked intellectual disability, Wilson type 611314 Malformation syndrome 98890 Early-onset X-linked optic atrophy 441434, 611314 Disease 100973 FRAXE intellectual disability 611314 Disease 280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome 611314 Disease 289483 Intellectual disability-alacrima-achalasia syndrome 611314, 98604 Disease 356996 ANK3-related intellectual disability-sleep disturbance syndrome 611314 Disease 401777 Optic atrophy-intellectual disability syndrome 441434, 611314 Disease 95716 Familial thyroid dyshormonogenesis 611314, 95714 Disease 88619 Familial acute necrotizing encephalopathy 611314 Disease 65 Leber congenital amaurosis 156174, 522548, 611314, 716410, 717324, 98622, 98641 Disease 73273 Growth delay due to insulin-like growth factor I resistance 181393, 611314 Disease 95496 Pituitary stalk interruption syndrome 611314, 95488 Morphological anomaly 99885 Isolated permanent neonatal diabetes mellitus 224, 611314 Disease 361 Familial glucocorticoid deficiency 101960, 611314 Disease 436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome 211053, 611314 Malformation syndrome 457260 X-linked intellectual disability-hypotonia-movement disorder syndrome 611314 Disease 468620 Intellectual disability-epilepsy-extrapyramidal syndrome 611314 Disease 621 Autosomal recessive methemoglobinemia 158300, 611314, 707993 Disease 2573 Moyamoya disease 477768, 611314 Disease 565788 Infantile inflammatory bowel disease with neurological involvement 165655, 169361, 611314 Disease 1313 Infantile choroidocerebral calcification syndrome 522520, 611314, 98683 Disease 3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome 611314, 716405 Disease 2375 Laryngeal abductor paralysis-intellectual disability syndrome 611314 Malformation syndrome 3077 X-linked intellectual disability-psychosis-macroorchidism syndrome 611314 Malformation syndrome 412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome 611314 Malformation syndrome 2268 ICF syndrome 169346, 611314 Malformation syndrome 528084 Non-specific syndromic intellectual disability 183757, 87277 Disease 209908 Isolated childhood apraxia of speech 211053, 71859 Disease 209978 Alternating hemiplegia 71859, 98006 Clinical group 2131 Alternating hemiplegia of childhood 209978 Disease 209973 Benign nocturnal alternating hemiplegia of childhood 209978 Disease 210141 Inherited congenital spastic tetraplegia 71859, 98006 Disease 434786 Rare genetic autonomic nervous system disorder 71859 Category 661 Congenital central hypoventilation syndrome 101944, 156610, 423662, 434786 Disease 199282 Harlequin syndrome 423662, 434786 Disease 581271 Cramp-fasciculation syndrome 423662, 434786, 98750 Disease 481665 Pseudo-TORCH syndrome type 2 477647, 481671, 71859, 98006 Disease 521232 Genetic primary orthostatic disorder 71859 Category 448426 Genetic primary orthostatic hypotension 521232 Category 2400 Peripheral motor neuropathy-dysautonomia syndrome 182058, 448426 Disease 443236 Postural orthostatic tachycardia syndrome due to NET deficiency 521232, 521236 Disease 603699 Recessive KLHL7-related disorder 71859, 98006 Clinical group 77830 Rare genetic odontologic disease 98053 Category 99792 Dentin dysplasia-sclerotic bones syndrome 77830, 98027 Disease 167762 Rare disease with dentinogenesis imperfecta 77830, 98027 Category 420755 Rare genetic odontal or periodontal disorder 77830 Category 1077 Dental ankylosis 164001, 420755 Malformation syndrome 2024 Hereditary gingival fibromatosis 164001, 183580, 420755 Malformation syndrome 2287 Fused mandibular incisors 164001, 420755 Morphological anomaly 88661 Amelogenesis imperfecta 164001, 420755 Disease 100031 Hypoplastic amelogenesis imperfecta 88661 Clinical subtype 100032 Hypocalcified amelogenesis imperfecta 88661 Clinical subtype 100033 Hypomaturation amelogenesis imperfecta 88661 Clinical subtype 100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism 88661 Clinical subtype 99797 Anodontia 164001, 420755 Morphological anomaly 99798 Oligodontia 164001, 420755 Morphological anomaly 167759 Hereditary dentin defect 164001, 420755 Category 1653 Dentin dysplasia 167759 Disease 99789 Dentin dysplasia type I 1653 Clinical subtype 99791 Dentin dysplasia type II 1653 Clinical subtype 314721 Atypical dentin dysplasia due to SMOC2 deficiency 1653 Clinical subtype 49042 Dentinogenesis imperfecta 167759 Disease 166260 Dentinogenesis imperfecta type 2 49042 Clinical subtype 166265 Dentinogenesis imperfecta type 3 49042 Clinical subtype 412206 Primary failure of tooth eruption 164001, 420755 Disease 91378 Hereditary angioedema 658, 98053 Clinical group 528623 Hereditary angioedema with C1Inh deficiency 250811, 91378 Disease 100050 Hereditary angioedema type 1 528623 Etiological subtype 100051 Hereditary angioedema type 2 528623 Etiological subtype 528647 Hereditary angioedema with normal C1Inh 91378 Disease 100054 F12-related hereditary angioedema with normal C1Inh 528647 Clinical subtype 537072 PLG-related hereditary angioedema with normal C1Inh 528647 Clinical subtype 599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant 528647 Clinical subtype 466084 Genetic otorhinolaryngologic disease 98053 Category 96210 Rare genetic deafness 466084 Category 87884 Rare non-syndromic genetic deafness 68361, 96210 Disease 90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB 87884 Etiological subtype 90625 Rare X-linked non-syndromic sensorineural deafness type DFN 87884 Etiological subtype 90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA 87884 Etiological subtype 922 Familial nasal acilia 466084, 98036 Disease 88620 Isolated congenital anosmia 466084, 98036 Disease 435603 Genetic otorhinolaryngological malformation 183583, 466084 Category 435606 Genetic nose and cavum anomaly 435603 Category 435609 Genetic larynx anomaly 435603 Category 435612 Genetic tracheal anomaly 435603 Category 98054 Rare genetic cardiac disease 98053 Category 477805 Genetic cardiac malformation 98054 Category 98056 Rare genetic renal disease 98053 Category 93587 Genetic cystic renal disease 93626, 98056 Category 731 Autosomal recessive polycystic kidney disease 101939, 156162, 156604, 399824, 400003, 506213, 93587 Disease 2666 Adult familial nephronophthisis-spastic quadriparesia syndrome 156162, 506213, 93587 Disease 79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome 93587 Disease 401996 Karyomegalic interstitial nephritis 506213, 93587 Disease 140976 RHYNS syndrome 156162, 506213, 716405, 93587 Disease 3156 Senior-Loken syndrome 156162, 156180, 506213, 716405, 93587 Disease 84081 Senior-Boichis syndrome 156162, 506213, 93587 Disease 730 Autosomal dominant polycystic kidney disease 156162, 399824, 400003, 506213, 93587 Disease 34149 Autosomal dominant tubulointerstitial kidney disease 183592, 506213, 93587 Disease 88949 MUC1-related autosomal dominant tubulointerstitial kidney disease 156162, 34149 Clinical subtype 88950 UMOD-related autosomal dominant tubulointerstitial kidney disease 156162, 34149 Clinical subtype 217330 REN-related autosomal dominant tubulointerstitial kidney disease 34149 Clinical subtype 655 Nephronophthisis 156162, 156180, 506213, 93587 Disease 93589 Late-onset nephronophthisis 655 Clinical subtype 93591 Infantile nephronophthisis 655 Clinical subtype 93592 Juvenile nephronophthisis 655 Clinical subtype 93593 Nephropathy secondary to a storage or other metabolic disease 93626, 98056 Category 300547 Autosomal recessive infantile hypercalcemia 183634, 506213, 68415, 93593 Disease 371207 Congenital disorder of glycosylation with nephropathy as a major feature 93593 Category 93614 Hematological disorder with renal involvement 93626, 98056 Category 846 Alpha-thalassemia 275745, 93614 Clinical group 93616 Hemoglobin H disease 846, 95618 Disease 163596 Hemoglobin Bart's fetalis syndrome 846 Disease 848 Beta-thalassemia 275749, 93614, 95618 Clinical group 231214 Beta-thalassemia major 848 Disease 231222 Beta-thalassemia intermedia 848 Disease 715143 Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene 848 Disease 156629 Rare genetic cause of hypertension 93618, 98056 Category 526 Liddle syndrome 156629, 506213 Disease 424 Familial hyperthyroidism due to mutations in TSH receptor 156629, 181399, 506213 Disease 757 Pseudohypoaldosteronism type 2 156629, 444916, 506213 Disease 88938 Pseudohypoaldosteronism type 2A 757 Etiological subtype 88939 Pseudohypoaldosteronism type 2B 757 Etiological subtype 88940 Pseudohypoaldosteronism type 2C 757 Etiological subtype 300525 Pseudohypoaldosteronism type 2D 757 Etiological subtype 300530 Pseudohypoaldosteronism type 2E 757 Etiological subtype 320 Apparent mineralocorticoid excess 101954, 156629, 183637, 506213 Disease 88659 Autosomal dominant progressive nephropathy with hypertension 156629, 506213 Disease 88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor 156629, 163637, 506213 Disease 235936 Familial hyperaldosteronism 156629, 231641, 371861, 506213 Clinical group 403 Familial hyperaldosteronism type I 235936 Disease 251274 Familial hyperaldosteronism type III 235936 Disease 642671 Familial hyperaldosteronism type IV 235936 Disease 183539 Genetic renal or urinary tract malformation 183530, 98056 Category 357506 Genetic non-syndromic renal or urinary tract malformation 183539 Category 183586 Genetic glomerular disease 98056 Category 567556 Genetic systemic disease with glomerulopathy as a major feature 183586, 567554 Category 342 Familial Mediterranean fever 290839, 324924, 567556 Disease 85450 Hereditary amyloidosis with primary renal involvement 444116, 506210, 567556, 69 Disease 93560 AApoAI amyloidosis 85450 Clinical subtype 93561 ALys amyloidosis 85450 Clinical subtype 93562 AFib amyloidosis 85450 Clinical subtype 238269 AApoAII amyloidosis 85450 Clinical subtype 444092 Autoimmune interstitial lung disease-arthritis syndrome 182228, 264699, 264992, 271870, 280373, 567556 Disease 36412 Hypocomplementemic urticarial vasculitis 156149, 280369, 567556 Disease 567562 Disorder with multisystemic involvement and glomerulopathy 183586, 93548 Category 2613 Nail-patella-like renal disease 567562 Disease 69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization 567562 Disease 84090 Fibronectin glomerulopathy 183586, 93548 Disease 54370 Primary membranoproliferative glomerulonephritis 183586, 93548 Disease 329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis 54370 Clinical subtype 329918 C3 glomerulopathy 54370 Clinical subtype 93571 Dense deposit disease 329918 Histopathological subtype 329931 C3 glomerulonephritis 329918 Histopathological subtype 544590 Collagen-related glomerular basement membrane disease 183586, 93548 Category 564127 Genetic nephrotic syndrome 183586, 567564 Clinical group 839 Congenital nephrotic syndrome, Finnish type 564127 Disease 656 Hereditary steroid-resistant nephrotic syndrome 564127 Disease 183589 Genetic thrombotic microangiopathy 98056 Category 93583 Congenital thrombotic thrombocytopenic purpura 183589, 183654, 54057 Clinical subtype 576742 Genetic hemolytic uremic syndrome 182043, 183589 Category 2134 Atypical hemolytic uremic syndrome 544458, 576742 Disease 544472 Atypical hemolytic uremic syndrome with complement gene abnormality 2134 Etiological subtype 93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies 2134 Etiological subtype 357008 Hemolytic uremic syndrome with DGKE deficiency 544458, 576742 Disease 183592 Genetic renal tubular disease 98056 Category 544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome 181376, 183592, 183625, 276525, 506213, 93603 Disease 528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome 183592, 506213, 93603, 98604 Disease 112 Bartter syndrome 183592, 93603 Disease 93605 Bartter syndrome type 3 112, 506213 Clinical subtype 570371 Bartter syndrome type 5 112 Clinical subtype 620217 Bartter syndrome type 1 112, 506213 Clinical subtype 620220 Bartter syndrome type 2 112, 506213 Clinical subtype 358 Gitelman syndrome 183592, 93603 Disease 3145 Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome 183592, 93603 Disease 2197 Idiopathic hypercalciuria 183592, 506213, 93603 Disease 223 Arginine vasopressin resistance 183592, 93603 Disease 3337 Primary Fanconi renotubular syndrome 183592, 506213, 93603 Disease 756 Pseudohypoaldosteronism type 1 183592, 444916 Disease 171871 Renal pseudohypoaldosteronism type 1 756 Clinical subtype 171876 Generalized pseudohypoaldosteronism type 1 756 Clinical subtype 93606 Nephrogenic syndrome of inappropriate antidiuresis 183592, 93603 Disease 94088 Hereditary renal hypouricemia 183592, 506213, 93603 Malformation syndrome 314822 Primary renal tubular acidosis 183592, 93603 Clinical group 18 Distal renal tubular acidosis 314822, 506213 Disease 93608 Autosomal dominant distal renal tubular acidosis 18 Clinical subtype 93610 Distal renal tubular acidosis with anemia 18, 98364 Clinical subtype 47159 Proximal renal tubular acidosis 314822 Disease 314889 Autosomal dominant proximal renal tubular acidosis 47159 Clinical subtype 1380 Cataract-nephropathy-encephalopathy syndrome 183592, 506213, 522548, 93603, 98641 Malformation syndrome 101435 Rare genetic eye disease 98053 Category 522504 Rare genetic disorder of the visual organs 101435 Category 522536 Structural developmental eye defect of genetic origin 183557, 522504 Category 522538 Rare genetic disorder of the anterior segment of the eye 522504 Category 522556 Rare genetic corneal disorder 522538 Category 522558 Rare genetic disorder with corneal involvement as a major feature 522556 Category 522560 Genetic corneal dystrophy 522558 Category 522562 Genetic superficial corneal dystrophy 522560 Category 98959 Subepithelial mucinous corneal dystrophy 522562, 98625 Disease 98961 Reis-Bücklers corneal dystrophy 522562, 98625 Disease 293375 Grayson-Wilbrandt corneal dystrophy 522562, 98625 Disease 98954 Meesmann corneal dystrophy 522562, 98625 Disease 98955 Lisch epithelial corneal dystrophy 522562, 98625 Disease 98956 Epithelial basement membrane dystrophy 522562, 98625 Disease 98957 Gelatinous drop-like corneal dystrophy 522562, 98625 Disease 98960 Thiel-Behnke corneal dystrophy 522562, 98625 Disease 293381 Epithelial recurrent erosion dystrophy 522562, 98625 Disease 352657 Hereditary benign intraepithelial dyskeratosis 522562, 98625 Disease 98626 Stromal corneal dystrophy 34533, 522560 Category 98972 Central cloudy dystrophy of François 98626 Disease 98962 Granular corneal dystrophy type I 98626 Disease 98963 Granular corneal dystrophy type II 98626 Disease 98964 Lattice corneal dystrophy type I 98626 Disease 98967 Schnyder corneal dystrophy 98626 Disease 98969 Macular corneal dystrophy 98626 Disease 98970 Fleck corneal dystrophy 98626 Disease 98971 Posterior amorphous corneal dystrophy 98626 Disease 101068 Congenital stromal corneal dystrophy 98626 Disease 293462 Pre-Descemet corneal dystrophy 98626 Disease 98627 Posterior corneal dystrophy 34533, 522560 Category 98974 Fuchs endothelial corneal dystrophy 98627 Disease 293603 Congenital hereditary endothelial dystrophy type II 98627 Disease 293621 X-linked endothelial corneal dystrophy 98627 Disease 98628 Syndromic corneal dystrophy 34533, 522560 Category 1661 X-linked corneal dermoid 519286, 522568, 98628 Disease 2741 Ophthalmomandibulomelic dysplasia 98628 Malformation syndrome 522564 Syndromic genetic keratoconus 522558 Category 293936 EDICT syndrome 522564, 98623 Disease 522566 Rare genetic inflammatory/autoimmune corneal disorder 522558 Category 2334 Autosomal dominant keratitis 519290, 522566 Disease 522568 Rare genetic disorder of the pupil 522538 Category 1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome 519286, 522548, 522568, 716299, 98641 Disease 3374 Unilateral ocular duplication 519286, 522568 Morphological anomaly 183607 Genetic lens and zonula anomaly 522538 Category 522546 Rare genetic disorder with lens opacification 183607 Category 522548 Syndromic genetic cataract 522546 Category 3167 Siegler-Brewer-Carey syndrome 101944, 156610, 522548, 98641 Malformation syndrome 162 Congenital cataract-anterior segment dysgenesis syndrome 522548, 98641 Malformation syndrome 91495 Persistent hyperplastic primary vitreous 522548, 716435, 98641 Disease 98642 Chromosomal anomaly with cataract 522548, 98641 Category 98644 Metabolic disease with cataract 522548, 98641 Category 98646 Renal disease with cataract 522548, 98641 Category 2253 Foveal hypoplasia-presenile cataract syndrome 522548, 98641 Disease 521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome 101941, 156607, 522548, 98641 Disease 98648 Musculoskeletal disease with cataract 522548, 98641 Category 98649 Dentocutaneous disease with cataract 522548, 98641 Category 98650 Craniofacial anomaly with cataract 522548, 98641 Category 263347 MRCS syndrome 522548, 716432, 717336, 98641 Disease 289499 Congenital cataract microcornea with corneal opacity 522548, 98641 Malformation syndrome 1377 Cataract-microcornea syndrome 522548, 98641 Malformation syndrome 2238 Familial isolated hypoparathyroidism 181405, 208593, 522548, 98641 Disease 2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland 2238 Clinical subtype 189466 Familial isolated hypoparathyroidism due to impaired PTH secretion 2238 Clinical subtype 2410 Hypergonadotropic hypogonadism-cataract syndrome 181441, 522548, 98641 Malformation syndrome 522550 Lens size anomaly of genetic origin 183557, 183607 Category 522552 Lens position anomaly of genetic origin 183557, 183607 Category 522554 Syndromic genetic ectopia lentis 522552 Category 522540 Anterior segment developmental anomaly of genetic origin 183557, 522538 Category 522542 Rare genetic disorder with conjunctival involvement as a major feature 522538 Category 722 Hypoplasminogenemia 182222, 271870, 522542, 98610 Disease 183616 Genetic neuro-ophthalmological disease 522504 Category 522510 Rare genetic ophthalmic disorder with cranial nerve involvement 183616 Category 64686 Tolosa-Hunt syndrome 519349, 522510 Disease 98685 Rare oculomotor nerve disorder 519349, 522510 Category 440221 Congenital oculomotor nerve palsy 98685 Disease 397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome 519349, 522510 Disease 440233 Congenital abducens nerve palsy 519349, 522510 Disease 522512 Rare genetic optic nerve disorder 522510 Category 98671 Hereditary optic neuropathy 519351, 522512 Category 98676 Autosomal recessive isolated optic atrophy 98671 Disease 441434 Syndromic hereditary optic neuropathy 98671 Category 522514 Congenital optic disc excavation of genetic origin 183557, 522512 Category 519337 Disorder with optic nerve compression 519351, 522512 Category 519339 Pseudopapilledema 519351, 522512 Category 313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome 165711, 519339, 716405 Disease 519353 Rare trochlear nerve disorder 519349, 522510 Category 91498 Familial congenital palsy of trochlear nerve 519353 Disease 98686 Congenital trochlear nerve palsy 519353 Disease 522508 Rare genetic ophthalmic disorder with cortical involvement 183616 Category 98688 Oculomotor apraxia 519343, 522508 Category 1125 Ocular motor apraxia, Cogan type 98688 Disease 522516 Rare genetic ocular motility/alignment disorder 183616 Category 522518 Rare genetic disorder with strabismus 522516 Category 522520 Syndromic genetic disorder with strabismus 522518 Category 2968 Leukocyte adhesion deficiency 522520, 674648, 98683 Disease 99842 Leukocyte adhesion deficiency type I 2968 Clinical subtype 98684 Craniostenosis with strabismus 522520, 98683 Category 522522 Rare genetic neuromuscular disorder with ocular motility/alignment anomaly 522516 Category 520820 Progressive external ophthalmoplegia 519347, 522522 Category 522506 Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature 183616 Category 98687 Supranuclear eye movement disorder 519341, 522506 Category 522524 Rare genetic disorder of the ocular adnexa 522504 Category 522532 Rare genetic disorder of the lacrimal apparatus 522524 Category 98604 Congenital alacrima 522532, 98602 Category 86815 Aplasia of lacrimal and salivary glands 98604 Disease 91416 Isolated congenital alacrima 98604 Disease 522534 Lacrimal drainage system anomaly of genetic origin 183557, 522532 Category 522526 Rare genetic palpebral disorder 183557, 522524 Category 522528 Rare genetic eyelid malposition disorder 522526 Category 522530 Rare genetic disorder with entropion 522528 Category 519296 Rare disorder with pigmented sclera 519298, 522504 Category 522570 Rare genetic disorder of the posterior segment of the eye 522504 Category 522572 Rare genetic retinal disorder 522570 Category 717260 Rare genetic generalized retinal disorder 522572 Category 716364 Rare non-progressive generalized retinal disorder 716358, 717260 Category 716367 Rare isolated non-progressive generalized retinal disorder 716364 Category 215 Congenital stationary night blindness 716367 Clinical group 75382 Oguchi disease 215 Malformation syndrome 714096 Congenital stationary night blindness, Riggs type 215 Disease 714090 Congenital stationary night blindness, Schubert-Bornschein type 215 Disease 714079 Complete congenital stationary night blindness, Schubert-Bornschein type 714090 Clinical subtype 714070 Incomplete congenital stationary night blindness, Schubert-Bornschein type 714090 Clinical subtype 227796 Fundus albipunctatus 215 Disease 99179 Kandori fleck retina 716367 Malformation syndrome 16 Blue cone monochromatism 716367, 98658 Disease 49382 Achromatopsia 716367, 98658 Disease 178333 Åland Islands eye disease 716367, 716419, 717330 Disease 90001 X-linked cone dysfunction syndrome with myopia 716367 Disease 363989 Familial benign flecked retina 716367 Disease 75374 Bradyopsia 716367 Disease 251287 Benign concentric annular macular dystrophy 716367 Disease 75378 Oligocone trichromacy 716367 Disease 716393 Rare disorder with non-progressive generalized retinal disorder as a major feature 716364 Category 717321 Rare genetic progressive generalized retinal disorder 717260 Category 717324 Rare genetic isolated progressive generalized retinal disorder 717321 Category 364055 Severe early-childhood-onset retinal dystrophy 716410, 717324 Disease 209932 Cone dystrophy with supernormal rod response 716410, 717324 Disease 247834 Occult macular dystrophy 716410, 716432, 717324, 717336 Disease 53540 Goldmann-Favre syndrome 716410, 717324 Disease 52427 Retinitis punctata albescens 716410, 717324 Disease 85128 Bothnia retinal dystrophy 716348, 716410, 717317, 717324 Disease 1872 Cone rod dystrophy 156171, 156174, 716410, 717324 Disease 139455 Autosomal recessive bestrophinopathy 716410, 716432, 717324, 717336 Disease 67042 Late-onset retinal degeneration 716410, 716432, 717324, 717336 Disease 827 Stargardt disease 716410, 716432, 717324, 717336 Disease 1871 Progressive cone dystrophy 156171, 716410, 717324 Disease 397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies 716410, 717324 Disease 716405 Rare disorder with progressive generalized retinal disorder as a major feature 716361, 717321 Category 653709 Cone rod dystrophy-short stature syndrome 716405 Disease 247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome 101944, 156610, 716405 Disease 1574 Retinal degeneration-nanophthalmos-glaucoma syndrome 716405 Malformation syndrome 717257 Rare genetic predominantly chorioretinal disorder 522572 Category 717308 Rare genetic non-progressive predominantly chorioretinal disorder 717257 Category 717311 Rare genetic isolated non-progressive predominantly chorioretinal disorder 717308 Category 251295 Pigmented paravenous retinochoroidal atrophy 716296, 717311 Disease 75327 North Carolina macular dystrophy 716296, 716419, 717311, 717330 Disease 716299 Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature 716293, 717308 Category 369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome 716299 Disease 717314 Rare genetic progressive predominantly chorioretinal disorder 717257 Category 716342 Rare disorder with progressive predominantly chorioretinal disorder as a major feature 716304, 717314 Category 2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome 181387, 716342 Disease 717317 Rare genetic isolated progressive predominantly chorioretinal disorder 717314 Category 86813 Helicoid peripapillary chorioretinal degeneration 716348, 717317 Disease 180 Choroideremia 716348, 717317 Disease 75373 Progressive bifocal chorioretinal atrophy 716348, 717317 Disease 41751 Bietti crystalline dystrophy 716348, 716432, 717317, 717336 Disease 522574 Rare genetic macular disorder 522572 Category 717327 Rare genetic non-progressive predominantly macular disorder 522574 Category 717330 Rare genetic isolated non-progressive predominantly macular disorder 717327 Category 519398 Isolated foveal hypoplasia 716419, 717330 Morphological anomaly 716422 Rare disorder with non-progressive predominantly macular disorder as a major feature 716413, 717327 Category 717333 Rare genetic progressive predominantly macular disorder 522574 Category 717336 Rare genetic isolated progressive predominantly macular disorder 717333 Category 75376 Familial drusen 716432, 717336 Disease 75381 Cystoid macular dystrophy 716432, 717336 Disease 466718 Martinique crinkled retinal pigment epitheliopathy 716432, 717336 Disease 75377 Central areolar choroidal dystrophy 716432, 717336 Disease 319640 Retinal macular dystrophy type 2 716432, 717336 Disease 59181 Sorsby fundus dystrophy 716432, 717336 Disease 1243 Best vitelliform macular dystrophy 716432, 717336 Disease 63454 Pattern dystrophy 716432, 717336 Category 99000 Adult-onset foveomacular vitelliform dystrophy 63454 Disease 99001 Butterfly-shaped pigment dystrophy 63454 Disease 99002 Reticular dystrophy of the retinal pigment epithelium 63454 Disease 99003 Multifocal pattern dystrophy simulating fundus flavimaculatus 63454 Disease 99004 Fundus pulverulentus 63454 Disease 716427 Rare disorder with progressive predominantly macular disorder as a major feature 716416, 717333 Category 522576 Rare genetic retinal vasculopathy 522572 Category 717339 Rare genetic non-progressive retinal vasculopathy 522576 Category 717342 Rare genetic progressive retinal vasculopathy 522576 Category 717345 Rare genetic isolated progressive retinal vasculopathy 717342 Category 329211 Autosomal dominant neovascular inflammatory vitreoretinopathy 716441, 716466, 717345 Disease 717348 Rare genetic disorder with progressive vasculopathy disorder as a major feature 717342 Category 3088 Revesz syndrome 68383, 717348 Malformation syndrome 98668 Vitreoretinopathy 519315, 522572 Category 716435 Rare non-progressive vitreoretinopathy 98668 Category 716438 Rare progressive vitreoretinopathy 98668 Category 716441 Rare isolated progressive vitreoretinopathy 716438 Category 91496 Snowflake vitreoretinal degeneration 716441 Disease 898 Wagner disease 716441 Disease 209867 Autosomal dominant rhegmatogenous retinal detachment 716441 Disease 716446 Rare disorder with progressive vitreoretinopathy disorder as a major feature 716438 Category 522578 Rare genetic disorder involving multiple structures of the eye 522504 Category 359 Pediatric-onset glaucoma of genetic origin 522578 Category 522580 Secondary early-onset glaucoma of genetic origin 359 Category 525677 Genetic congenital malformation of the eye with glaucoma as a major feature 183557, 522580 Category 98638 Rare disease with glaucoma as a major feature 519331, 522580 Category 2536 Microcornea-glaucoma-absent frontal sinuses syndrome 98638 Malformation syndrome 2085 Glaucoma-sleep apnea syndrome 68354, 98638 Disease 98706 Oculocutaneous or ocular albinism 519329, 522578 Category 617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome 519329, 522578 Disease 98618 Rare refraction anomaly 101435, 97966 Category 98619 Rare isolated myopia 98618 Disease 98621 Rare hyperopia and astigmatism 98618 Category 98622 Syndromic hyperopia 98621 Category 98658 Color-vision disease 101435, 97966 Category 88629 Tritanopia 98658 Disease 140162 Inherited cancer-predisposing syndrome 250908, 98053 Category 252206 Melanoma and neural system tumor syndrome 140162, 252190 Disease 231108 Rhabdoid tumor predisposition syndrome 140162 Disease 99749 Kostmann syndrome 140162, 439849 Disease 183422 Polymalformative genetic syndrome with increased risk of developing cancer 140162 Category 166113 Bazex syndrome 183422, 90077 Disease 169079 Cernunnos-XLF deficiency 183422, 480549 Disease 252202 Constitutional mismatch repair deficiency syndrome 140162, 252190, 331240 Disease 276399 Familial multinodular goiter 101955, 140162, 183631 Disease 289539 BAP1-related tumor predisposition syndrome 140162 Disease 293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome 140162 Disease 319328 Inherited renal cancer-predisposing syndrome 140162, 93626 Category 47044 Hereditary papillary renal cell carcinoma 319328 Disease 99880 Hyperparathyroidism-jaw tumor syndrome 2207, 319328 Disease 319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations 319328 Disease 422526 Hereditary clear cell renal cell carcinoma 319328 Disease 431149 Combined immunodeficiency due to OX40 deficiency 140162, 480549 Disease 284343 DICER1 tumor-predisposition syndrome 140162, 64742 Disease 661526 MBD4-related tumor predisposition syndrome 140162 Disease 664450 Inherited cancer-predisposing lymphoproliferative syndrome 140162 Category 695172 Combined immunodeficiency due to dimerization defective IKAROS mutation 664450, 695164 Disease 695807 Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome 165655, 169361, 290839, 324933, 664450 Disease 542301 EBV-induced lymphoproliferative disease due to CARMIL2 deficiency 480549, 664450, 664456 Disease 538931 X-linked lymphoproliferative disease due to SAP deficiency 2442, 664450 Disease 540 Familial hemophagocytic lymphohistiocytosis 102005, 664450, 664482 Disease 3261 Autoimmune lymphoproliferative syndrome 169355, 171898, 664450 Disease 268114 RAS-associated autoimmune leukoproliferative disease 169355, 171898, 664450 Disease 306550 FADD-related immunodeficiency 169355, 664450 Disease 619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency 169355, 324933, 664450 Disease 238505 Combined immunodeficiency due to CD27 deficiency 480549, 664450, 664734 Disease 275523 Dianzani autoimmune lymphoproliferative disease 169355, 664450 Disease 538958 EBV-induced lymphoproliferative disease due to CD70 deficiency 480549, 664450, 664456 Disease 538963 Combined immunodeficiency due to ITK deficiency 480549, 664450, 664456 Disease 664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency 664450, 664456 Disease 664699 EBV-induced lymphoproliferative disease due to RASGRP1 deficiency 664450, 664456 Disease 664726 EBV-induced lymphoproliferative disease due to CD137 deficiency 664450, 664456 Disease 664729 EBV-induced lymphoproliferative disease due to TET2 deficiency 664450, 664456 Disease 420573 Severe combined immunodeficiency due to CTPS1 deficiency 397802, 664450, 664456 Disease 317476 XMEN 480549, 664450, 664456 Disease 692812 RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome 101944, 140162, 156610, 506222, 688571 Disease 634518 Neurofibromatosis/schwannomatosis 140162, 252190 Category 634461 Mosaic neurofibromatosis type 1 634518 Disease 634475 Mosaic NF2-related schwannomatosis 634518 Disease 634492 Mosaic schwannomatosis 634518 Disease 589746 Inherited gynecological cancer-predisposing syndrome 140162 Category 619340 Inherited hematologic cancer-predisposing syndrome 140162 Category 71290 Familial platelet disorder with associated myeloid malignancy 477797, 619340, 98456 Disease 585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality 619340, 99860 Etiological subtype 641375 B-lymphoblastic leukemia/lymphoma with t(17;19) 585877 Etiological subtype 585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 585877 Etiological subtype 585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3) 585877 Etiological subtype 585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1) 585877 Etiological subtype 585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy 585877 Etiological subtype 585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy 585877 Etiological subtype 585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3) 585877 Etiological subtype 585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3) 585877 Etiological subtype 641372 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) 585877 Etiological subtype 524 Li-Fraumeni syndrome 252190, 314749, 619340 Disease 488647 DDX41-related hematologic malignancy predisposition syndrome 619340 Disease 156601 Rare genetic hepatic disease 98053 Category 2312 Transient familial neonatal hyperbilirubinemia 156601, 57146 Disease 79124 Hepatic veno-occlusive disease-immunodeficiency syndrome 101938, 156601, 331217 Disease 101940 Rare metabolic liver disease 156601, 57146 Category 284385 Familial intrahepatic cholestasis 101940 Category 371157 Congenital disorder of glycosylation with hepatic involvement 101940 Category 156604 Genetic parenchymatous liver disease 156601 Category 440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency 100049, 101939, 156604 Disease 464724 Fever-associated acute infantile liver failure syndrome 101939, 156604 Disease 300293 Transient infantile hypertriglyceridemia and hepatosteatosis 101939, 156604 Disease 370088 Acute infantile liver failure-multisystemic involvement syndrome 101939, 156604 Disease 391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome 101939, 156604 Disease 156607 Genetic biliary tract disease 156601 Category 2924 Isolated polycystic liver disease 101941, 156607, 506210 Malformation syndrome 69663 Low phospholipid-associated cholelithiasis 101941, 156607 Disease 480520 Caroli syndrome 101941, 156607, 506210 Malformation syndrome 480556 Isolated neonatal sclerosing cholangitis 156607, 447771 Disease 276405 Hyperbiliverdinemia 156601, 57146 Disease 156610 Rare genetic respiratory disease 98053 Category 2903 Familial spontaneous pneumothorax 101944, 156610 Disease 244 Primary ciliary dyskinesia 101944, 156171, 156610, 399813 Disease 3471 Young syndrome 101944, 156610, 399824, 400003 Disease 538 Lymphangioleiomyomatosis 156610, 264740 Disease 422 Idiopathic/heritable pulmonary arterial hypertension 156610, 182090 Disease 275766 Idiopathic pulmonary arterial hypertension 422 Etiological subtype 275777 Heritable pulmonary arterial hypertension 422 Etiological subtype 60025 Pulmonary alveolar microlithiasis 156610, 97955 Disease 60033 Idiopathic bronchiectasis 101944, 156610 Disease 183622 Genetic respiratory malformation 156610 Category 264992 Genetic interstitial lung disease 156610 Category 100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies 264670, 264992 Category 217563 Neonatal acute respiratory distress syndrome 100049 Disease 264675 Hereditary pulmonary alveolar proteinosis 100049, 674896 Disease 440402 Interstitial lung disease due to ABCA3 deficiency 100049 Disease 572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia 100049, 290839 Disease 210122 Congenital alveolar capillary dysplasia 264683, 264992 Disease 217566 Chronic respiratory distress with surfactant metabolism deficiency 264930, 264992 Disease 440392 Interstitial lung disease due to SP-C deficiency 264930, 264992 Disease 431353 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis 156610, 71198 Category 31837 Pulmonary venoocclusive disease 431353 Disease 199241 Pulmonary capillary hemangiomatosis 431353 Disease 156619 Rare genetic urogenital disease 98053 Category 156622 Genetic urogenital tract malformation 156619 Category 325690 Genetic difference of sex development 156619, 156638, 183530 Category 325697 Genetic 46,XX difference of sex development 325690 Category 325706 Genetic 46,XY difference of sex development 325690 Category 325713 Genetic 46,XY difference of sex development of endocrine origin 325706 Category 156638 Rare genetic endocrine disease 98053 Category 485382 Rare genetic premature ovarian failure 156638, 202940 Category 436182 Microcephalic primordial dwarfism-insulin resistance syndrome 181368, 485382, 95710 Malformation syndrome 642691 Fragile X-associated primary ovarian insufficiency 485382, 95710 Disease 785 Estrogen resistance syndrome 156638, 180208, 202940, 399831, 400011, 97978 Disease 77828 Genetic obesity 156638, 183573, 97978 Category 98267 Genetic non-syndromic obesity 77828 Disease 66628 Obesity due to congenital leptin deficiency 181390, 98267 Etiological subtype 179490 Obesity due to congenital leptin resistance 98267 Etiological subtype 71526 Obesity due to pro-opiomelanocortin deficiency 179490 Etiological subtype 71528 Obesity due to prohormone convertase I deficiency 179490, 181390 Etiological subtype 71529 Obesity due to melanocortin 4 receptor deficiency 179490 Etiological subtype 179494 Obesity due to leptin receptor gene deficiency 179490, 181390 Etiological subtype 329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency 98267 Etiological subtype 369873 Obesity due to SIM1 deficiency 98267 Etiological subtype 397615 Obesity due to CEP19 deficiency 98267 Etiological subtype 156643 Genetic endocrine growth disease 156638 Category 418 Congenital adrenal hyperplasia 101960, 156643, 181412, 90692 Clinical group 54595 Craniopharyngioma 156643, 90692, 95503, 98062 Disease 95488 Non-acquired pituitary hormone deficiency 101957, 156643, 90692 Category 631 Non-acquired isolated growth hormone deficiency 95488 Disease 629 Short stature due to growth hormone qualitative anomaly 631 Clinical subtype 231662 Isolated growth hormone deficiency type IA 631 Clinical subtype 231671 Isolated growth hormone deficiency type IB 631 Clinical subtype 231679 Isolated growth hormone deficiency type II 631 Clinical subtype 231692 Isolated growth hormone deficiency type III 631 Clinical subtype 632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia 229720, 231692 Clinical subtype 684247 Isolated growth hormone deficiency type IV 631 Clinical subtype 467 Non-acquired combined pituitary hormone deficiency 95488 Category 95495 Disease associated with non-acquired combined pituitary hormone deficiency 467 Category 85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome 95495 Disease 293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome 696870, 95495 Disease 178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations 467 Category 90695 Non-acquired panhypopituitarism 178025, 181390 Disease 95494 Combined pituitary hormone deficiencies, genetic forms 178025, 181390 Disease 90674 Isolated thyroid-stimulating hormone deficiency 226298, 95488 Disease 174590 Congenital hypogonadotropic hypogonadism 180208, 202940, 399572, 399983, 95488 Category 181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism 174590 Category 2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome 181387 Disease 2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome 181387 Malformation syndrome 181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature 174590, 399839 Category 95702 X-linked adrenal hypoplasia congenita 181390, 595337 Disease 238666 Isolated congenital hypogonadotropic hypogonadism 174590, 399839 Disease 478 Kallmann syndrome 238666 Clinical subtype 432 Normosmic congenital hypogonadotropic hypogonadism 238666 Clinical subtype 52901 Isolated follicle stimulating hormone deficiency 174590, 400011 Disease 199296 Congenital isolated ACTH deficiency 95488 Disease 314811 Short stature due to GHSR deficiency 95488 Disease 95709 Rare acquired premature ovarian failure 156643, 180208, 90692 Category 3143 Autoimmune polyendocrinopathy type 2 101963, 282196, 399853, 95709 Disease 435554 Genetic precocious puberty 156643 Category 178040 Rare peripheral precocious puberty 435554, 95708 Category 3000 Familial peripheral male-limited precocious puberty 178040 Disease 178345 Aromatase excess syndrome 178040, 435564, 650187 Disease 650182 Genetic central precocious puberty 435554 Clinical group 650097 Genetic central precocious puberty in male 650087, 650182 Clinical subtype 650077 Genetic central precocious puberty in female 650070, 650182 Disease 181393 Growth hormone insensitivity syndrome 156643, 183628, 90692 Category 633 Laron syndrome 181393 Disease 140941 Short stature due to primary acid-labile subunit deficiency 181393 Disease 314802 Short stature due to partial GHR deficiency 181393 Disease 226292 Permanent congenital hypothyroidism 156643, 442 Category 177107 Syndromic hypothyroidism 226292 Category 2349 Muscular pseudohypertrophy-hypothyroidism syndrome 177107 Disease 88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome 177107 Disease 226295 Primary congenital hypothyroidism 226292 Clinical group 95711 Congenital hypothyroidism due to developmental anomaly 226295 Category 95712 Thyroid ectopia 95711 Morphological anomaly 95713 Athyreosis 95711 Morphological anomaly 95719 Thyroid hemiagenesis 95711, 95718 Morphological anomaly 95720 Thyroid hypoplasia 95711, 95718 Morphological anomaly 95714 Primary congenital hypothyroidism without thyroid developmental anomaly 226295 Category 90673 Hypothyroidism due to TSH receptor mutations 95714 Disease 95717 Idiopathic congenital hypothyroidism 95714 Disease 226298 Central congenital hypothyroidism 226292 Clinical group 99832 Resistance to thyrotropin-releasing hormone syndrome 226298 Disease 226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function 226298 Disease 238670 Isolated thyrotropin-releasing hormone deficiency 226298 Disease 329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement 226298 Disease 181441 Rare disorder with hypergonadotropic hypogonadism 156638, 399685, 97978 Category 2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome 181441 Disease 2558 Mikati-Najjar-Sahli syndrome 181441 Malformation syndrome 183625 Rare genetic diabetes mellitus 156638 Category 552 MODY 181376, 183625 Disease 224 Neonatal diabetes mellitus 101952, 183625 Category 181368 Rare insulin-resistance syndrome 101952, 183625 Category 2297 Insulin-resistance syndrome type A 181368, 399853, 400022 Disease 2298 Insulin-resistance syndrome type B 181368 Disease 66518 Short fifth metacarpals-insulin resistance syndrome 181368 Disease 436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome 181368 Disease 183628 Rare genetic hypothalamic or pituitary disease 156638 Category 101957 Pituitary deficiency 181384, 183628 Category 30925 Hereditary arginine vasopressin deficiency 101957, 178029 Clinical subtype 300373 X-linked acrogigantism 183628, 715120 Disease 397685 Familial hyperprolactinemia 183628, 399572, 399831, 399983, 400011, 715120 Disease 183631 Rare genetic thyroid disease 156638 Category 181396 Rare hypothyroidism 101955, 183631 Category 442 Congenital hypothyroidism 181396, 90692 Category 226316 Genetic transient congenital hypothyroidism 238699, 442 Disease 181399 Rare hyperthyroidism 101955, 183631 Category 99819 Familial gestational hyperthyroidism 163637, 181399 Disease 596426 Syndrome of reduced sensitivity to thyroid hormone 101955, 183631 Clinical group 566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta 596426 Disease 566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha 596426 Disease 171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency 596426 Disease 597939 Euthyroid dysprealbuminemic hyperthyroxinemia 596426 Disease 183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder 156638 Category 208593 Genetic hypoparathyroidism 183634 Category 181402 Syndrome with hypoparathyroidism 181405, 208593 Category 208596 Genetic hyperparathyroidism 183634 Category 2207 Familial primary hyperparathyroidism 100090, 181408, 208596 Clinical group 99879 Familial isolated hyperparathyroidism 2207 Disease 183637 Rare genetic adrenal disease 156638 Category 427 Familial hypoaldosteronism 181419, 183637 Disease 556030 Early-onset familial hypoaldosteronism 427 Clinical subtype 556037 Late-onset familial hypoaldosteronism 427 Clinical subtype 2976 Pseudoleprechaunism syndrome, Patterson type 183637, 314749 Malformation syndrome 101960 Genetic chronic primary adrenal insufficiency 101959, 183637 Category 977 Adrenomyodystrophy 101960 Disease 289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency 101960 Disease 595337 Adrenal hypoplasia congenita 101960 Clinical group 181412 Adrenogenital syndrome 101954, 183637 Category 168588 Hyperandrogenism due to cortisone reductase deficiency 180208, 181412, 202940 Malformation syndrome 199247 Corticosteroid-binding globulin deficiency 101954, 183637, 250811 Disease 371861 Genetic hyperaldosteronism 183637 Category 369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome 231637, 371861 Disease 189427 Cushing syndrome due to bilateral macronodular adrenocortical disease 183637, 399584, 399994, 647758 Disease 183643 Genetic polyendocrinopathy 156638 Category 1227 Bangstad syndrome 101956, 183643 Malformation syndrome 276525 Familial hyperinsulinism 156638, 443095 Category 263458 Hyperinsulinism due to INSR deficiency 276525 Disease 276608 Non-insulinoma pancreatogenous hypoglycemia syndrome 276525 Disease 158300 Rare genetic hematologic disease 98053 Category 330041 Hemoglobin M disease 158300, 707993 Disease 86816 Congenital analbuminemia 158300, 97992 Disease 183651 Rare constitutional anemia 158300 Category 466066 Genetic hemoglobinopathy 183651 Category 707792 Unstable gamma globin chain variant disease 466066, 68364 Disease 715147 Low oxygen affinity hemoglobin disease 466066, 68364 Disease 715154 Low oxygen affinity alpha chain hemoglobin disease 715147 Etiological subtype 715157 Low oxygen affinity beta chain hemoglobin disease 715147 Etiological subtype 280615 Low oxygen affinity gamma chain hemoglobin disease 715147 Etiological subtype 707786 Thalassemia 466066, 68364 Category 2133 Hemoglobin E disease 707786 Disease 275745 Alpha-thalassemia and related disorders 707786 Category 707789 Unstable alpha globin chain variant disease 275745 Disease 232288 Syndrome with alpha-thalassemia as a major feature 275745 Category 231401 Alpha-thalassemia-myelodysplastic syndrome 232288 Disease 275749 Beta-thalassemia and related disorders 707786 Category 231230 Beta-thalassemia associated with another hemoglobin anomaly 275749 Category 231242 Hemoglobin C-beta-thalassemia syndrome 231230 Disease 231249 Hemoglobin E-beta-thalassemia syndrome 231230 Disease 715128 Hemoglobin E-beta-thalassemia major 231249 Clinical subtype 715125 Hemoglobin E-beta-thalassemia intermedia 231249 Clinical subtype 330032 Hemoglobin Lepore-beta-thalassemia syndrome 231230 Disease 715135 Hemoglobin Lepore-beta-thalassemia intermedia 330032 Clinical subtype 715140 Hemoglobin Lepore-beta-thalassemia major 330032 Clinical subtype 231386 Syndromic beta-thalassemia 275749 Category 231393 Beta-thalassemia-X-linked thrombocytopenia syndrome 231386 Disease 231237 Delta-beta-thalassemia 275749 Disease 231226 Unstable beta globin chain variant disease 275749 Disease 46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome 275749 Disease 2132 Hemoglobin C disease 466066, 68364 Disease 90039 Hemoglobin D disease 466066, 68364 Disease 275752 Sickle cell disease 466066, 68364 Category 251359 Sickle cell-beta-thalassemia disease 275752 Disease 695140 Sickle cell-beta zero-thalassemia 251359 Etiological subtype 695147 Sickle cell-beta plus-thalassemia 251359 Etiological subtype 251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 275752 Disease 251365 Sickle cell S-C disease 275752 Disease 700085 Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant 275752 Disease 700107 Sickle cell S-other specified hemoglobin variant 700085 Clinical subtype 251370 Sickle cell S-D Punjab disease 700085 Clinical subtype 251375 Sickle cell S-E disease 700085 Clinical subtype 700090 Sickle cell S-O Arab disease 700085 Clinical subtype 699822 Sickle cell S-Lepore disease 700085 Clinical subtype 700111 Homozygous hemoglobin O Arab disease 466066, 68364 Disease 98362 Constitutional sideroblastic anemia 1047, 183651 Category 260305 Autosomal recessive sideroblastic anemia 98362 Disease 300298 Severe congenital hypochromic anemia with ringed sideroblasts 98360, 98362 Disease 369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome 696870, 98362 Disease 68383 Rare constitutional aplastic anemia 182040, 183651 Category 3319 Congenital amegakaryocytic thrombocytopenia 477797, 68383 Disease 314399 Autosomal dominant aplasia and myelodysplasia 68383 Disease 397692 Hereditary isolated aplastic anemia 68383 Disease 401764 Pancytopenia-developmental delay syndrome 68383 Disease 182043 Rare constitutional hemolytic anemia 183651, 98363 Category 98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly 182043 Category 822 Hereditary spherocytosis 98364 Disease 288 Hereditary elliptocytosis 98364 Disease 98365 Hereditary stomatocytosis 98364 Clinical group 3203 Overhydrated hereditary stomatocytosis 98365 Disease 3202 Dehydrated hereditary stomatocytosis 98365 Disease 71275 Rh deficiency syndrome 98365 Disease 90044 Familial pseudohyperkalemia 98365 Disease 98868 Southeast Asian ovalocytosis 98365 Disease 398088 Hereditary cryohydrocytosis with normal stomatin 98365 Disease 98366 Constitutional hemolytic anemia due to acanthocytosis 98364 Category 98369 Rare constitutional hemolytic anemia due to an enzyme disorder 182043 Category 98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies 98369 Category 90030 Hemolytic anemia due to glutathione reductase deficiency 98370 Disease 99135 6-phosphogluconate dehydrogenase deficiency 98370 Disease 98372 Hemolytic anemia due to a disorder of glycolytic enzymes 98369 Category 90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency 98372 Disease 466026 Class I glucose-6-phosphate dehydrogenase deficiency 98372 Disease 98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder 98369 Category 86817 Hemolytic anemia due to adenylate kinase deficiency 98374 Disease 248296 Constitutional deficiency anemia 183651, 248293 Category 98360 Constitutional anemia due to iron metabolism disorder 248296 Category 209981 IRIDA syndrome 98360 Disease 98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder 248296 Category 98408 Constitutional megaloblastic anemia due to folate metabolism disorder 248296 Category 98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia 248296 Category 293830 Constitutional dyserythropoietic anemia 108997, 183651 Category 85 Congenital dyserythropoietic anemia 293830 Clinical group 67044 Thrombocytopenia with congenital dyserythropoietic anemia 220452, 85 Disease 98869 Congenital dyserythropoietic anemia type I 85 Disease 98870 Congenital dyserythropoietic anemia type III 85 Disease 293825 Congenital dyserythropoietic anemia type IV 85 Disease 363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia 220452, 85 Disease 183654 Rare genetic coagulation disorder 158300 Category 68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect 183654, 248315 Category 600691 Combined deficiency of factor VII and factor X 68334 Disease 448 Hemophilia 68334 Clinical group 98878 Hemophilia A 448 Disease 169802 Severe hemophilia A 98878 Clinical subtype 169805 Moderate hemophilia A 98878 Clinical subtype 169808 Mild hemophilia A 98878 Clinical subtype 177926 Bleeding disorder in hemophilia A carriers 98878 Clinical subtype 98879 Hemophilia B 448 Disease 169793 Severe hemophilia B 98879 Clinical subtype 169796 Moderate hemophilia B 98879 Clinical subtype 169799 Mild hemophilia B 98879 Clinical subtype 177929 Bleeding disorder in hemophilia B carriers 98879 Clinical subtype 617930 Hemophilia B Leyden 98879 Clinical subtype 326 Congenital factor V deficiency 68334 Disease 335 Congenital fibrinogen deficiency 68334 Disease 98880 Familial afibrinogenemia 335 Clinical subtype 98881 Familial dysfibrinogenemia 335 Clinical subtype 101041 Familial hypofibrinogenemia 335 Clinical subtype 248408 Familial hypodysfibrinogenemia 335 Clinical subtype 79 Congenital alpha2-antiplasmin deficiency 250811, 68334 Disease 331 Congenital factor XIII deficiency 68334 Disease 903 Von Willebrand disease 68334 Disease 166078 Von Willebrand disease type 1 903 Clinical subtype 166081 Von Willebrand disease type 2 903 Clinical subtype 166084 Von Willebrand disease type 2A 166081 Clinical subtype 166087 Von Willebrand disease type 2B 166081 Clinical subtype 166090 Von Willebrand disease type 2M 166081 Clinical subtype 166093 Von Willebrand disease type 2N 166081 Clinical subtype 166096 Von Willebrand disease type 3 903 Clinical subtype 329 Congenital factor XI deficiency 68334 Disease 465 Congenital plasminogen activator inhibitor type 1 deficiency 250808, 68334 Disease 483 Congenital high-molecular-weight kininogen deficiency 68334 Disease 749 Congenital prekallikrein deficiency 68334 Disease 35909 Combined deficiency of factor V and factor VIII 68334 Disease 169826 Congenital vitamin K-dependent coagulation factors deficiency 68334 Category 327 Congenital factor VII deficiency 169826 Disease 325 Congenital factor II deficiency 169826 Disease 328 Congenital factor X deficiency 169826 Disease 178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation 250808, 68334 Disease 599519 Factor V short isoforms-related bleeding disorder 68334 Disease 391320 East Texas bleeding disorder 599519 Etiological subtype 599579 Factor V Amsterdam bleeding disorder 599519 Etiological subtype 600194 Factor V Atlanta bleeding disorder 599519 Etiological subtype 436169 Thrombomodulin-related bleeding disorder 68334 Disease 71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly 183654, 248326 Category 275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia 71202 Category 477794 Syndromic constitutional thrombocytopenia 275729 Category 652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome 290839, 324924, 331184, 477794 Disease 480851 Hereditary thrombocytopenia with early-onset myelofibrosis 477794, 98274 Disease 220448 Macrothrombocytopenia with mitral valve insufficiency 477794 Disease 734 Alpha delta granule deficiency 477794 Disease 98456 Dense granule disease 477794 Category 477797 Isolated constitutional thrombocytopenia 275729 Category 220452 Isolated hereditary giant platelet disorder 477797 Category 438207 Severe autosomal recessive macrothrombocytopenia 220452 Disease 274 Bernard-Soulier syndrome 220452 Disease 140957 Autosomal dominant macrothrombocytopenia 220452 Disease 98455 Alpha granule disease 220452 Category 721 Gray platelet syndrome 98455 Disease 220436 Quebec platelet disorder 98455 Disease 370127 Medich giant platelet syndrome 98455 Disease 370131 White platelet syndrome 98455 Disease 268322 Hereditary thrombocytopenia with normal platelets 477797 Disease 852 X-linked thrombocytopenia with normal platelets 268322 Etiological subtype 168629 Autosomal thrombocytopenia with normal platelets 268322 Etiological subtype 220443 Bleeding diathesis due to thromboxane synthesis deficiency 477797 Disease 248340 Isolated delta-storage pool disease 477797 Disease 466806 Autosomal dominant thrombocytopenia with platelet secretion defect 477797 Disease 566192 Congenital autosomal recessive small-platelet thrombocytopenia 477797 Disease 275736 Rare hemorrhagic disorder due to a qualitative platelet defect 71202 Category 849 Glanzmann thrombasthenia 275736 Disease 806 Scott syndrome 275736 Disease 36355 Bleeding disorder due to P2Y12 defect 275736 Disease 52530 Pseudo-von Willebrand disease 275736 Disease 73271 Bleeding diathesis due to a collagen receptor defect 275736 Disease 98885 Bleeding diathesis due to glycoprotein VI deficiency 73271 Etiological subtype 98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency 73271 Etiological subtype 420566 Bleeding disorder due to CalDAG-GEFI deficiency 275736 Disease 248361 Rare thrombotic disorder due to a constitutional coagulation factors defect 183654, 248358 Category 330 Congenital factor XII deficiency 248361 Disease 3324 Familial thrombomodulin anomalies 248361 Disease 217454 Rare hereditary thrombophilia 248361, 399185 Clinical group 743 Severe hereditary thrombophilia due to congenital protein S deficiency 217454 Disease 745 Severe hereditary thrombophilia due to congenital protein C deficiency 217454 Disease 82 Hereditary thrombophilia due to congenital antithrombin deficiency 217454, 250811 Disease 217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency 217454 Disease 248401 Rare thrombotic disorder due to a constitutional platelet anomaly 183654, 248368 Category 71493 Familial thrombocytosis 248401 Disease 250165 Genetic polycythemia 158300 Category 90042 Primary familial polycythemia 250165, 98427 Disease 98428 Secondary polycythemia 250165, 98427 Category 238536 Congenital secondary polycythemia 98428 Category 238557 Chuvash erythrocytosis 238536 Disease 247378 Autosomal recessive secondary polycythemia not associated with VHL gene 238536 Disease 247511 Autosomal dominant secondary polycythemia 238536 Disease 165652 Rare genetic gastroenterological disease 98053 Category 165655 Genetic intestinal disease 165652 Category 363300 Genetic intractable diarrhea of infancy 165655 Category 363306 Genetic intestinal disease due to fat malabsorption 165655 Category 363314 Genetic intestinal polyposis 165655 Category 238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome 165655, 169361, 182231, 619249 Disease 529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome 165655, 169361, 182231, 271870 Disease 529980 Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome 165655, 169361 Disease 538934 X-linked lymphoproliferative disease due to XIAP deficiency 165655, 2442 Disease 676125 X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency 165655, 169361, 324936 Disease 165658 Genetic gastro-esophageal disease 165652 Category 165661 Genetic pancreatic disease 165652 Category 183524 Rare genetic bone disease 98053 Category 93448 Lysosomal storage disease with skeletal involvement 183524, 93419 Category 235832 Congenital vascular bone syndrome 183524, 93419 Clinical group 364803 Rare bone disease related to a common gene or pathway defect 183524 Category 674499 Proteoglycan-related bone disorder 364803 Category 251262 Familial osteochondritis dissecans 399158, 399380, 674499 Disease 93420 FGFR3-related chondrodysplasia 364803 Category 93421 Type 2 collagen-related bone disorder 364803 Category 2380 Legg-Calvé-Perthes disease 399319, 93421 Disease 86820 Familial avascular necrosis of femoral head 399302, 399388, 93421 Disease 93422 Type 11 collagen-related bone disorder 364803 Category 93423 Sulfation-related bone disorder 364803 Category 93425 Filamin-related bone disorder 364803 Category 364820 TRPV4-related bone disorder 364803 Category 399380 Osteonecrosis of genetic origin 183524 Category 399388 Avascular necrosis of genetic origin 399380 Category 399185 Rare hereditary disease with avascular necrosis 399169, 399388 Category 399391 Osteochondrosis of genetic origin 399380 Category 3314 Thiemann disease, familial form 399319, 399391 Disease 404568 Dysostosis of genetic origin 183524, 404584 Category 404571 Dysostosis of genetic origin with limb anomaly as a major feature 404568 Category 404574 Genetic syndrome with limb reduction defects 404571, 404577 Category 183530 Rare genetic developmental defect during embryogenesis 98053 Category 183533 Genetic multiple congenital anomalies/dysmorphic syndrome 183530 Category 471383 Genetic lethal multiple congenital anomalies/dysmorphic syndrome 183533 Category 330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability 183533 Category 183536 Genetic congenital limb malformation 183530 Category 404577 Genetic syndrome with limb malformations as a major feature 183536 Category 183542 Genetic cranial malformation 183530 Category 183545 Genetic digestive tract malformation 183530 Category 371445 Genetic syndromic esophageal malformation 88993 Category 183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen 183530 Category 183554 Genetic respiratory or mediastinal malformation 183530 Category 183557 Genetic developmental defect of the eye 183530 Category 183570 Genetic malformation syndrome with short stature 183530 Category 183573 Genetic overgrowth/obesity syndrome 183530 Category 183576 Genetic branchial arch or oral-acral syndrome 183530 Category 183580 Genetic malformation syndrome with odontal and/or periodontal component 183530 Category 183583 Genetic head and neck malformation 183530 Category 363294 Genetic syndromic Pierre Robin syndrome 156237 Category 414726 Genetic facial cleft 183583 Category 211240 Genetic vascular anomaly 183530 Category 459526 Rare genetic capillary malformation 211240 Category 459537 Genetic complex vascular malformation with associated anomalies 211240 Category 459543 Rare genetic vascular tumor 211240 Category 459548 Rare genetic venous malformation 211240 Category 271853 Genetic cardiac anomaly 183530 Category 363245 Genetic progeroid syndrome 183530 Category 404584 Rare genetic bone development disorder 183530 Category 183731 Rare genetic gynecological and obstetrical diseases 98053 Category 145 Hereditary breast and/or ovarian cancer syndrome 180257, 183731 Disease 64739 Ovarian hyperstimulation syndrome 180303, 183731 Disease 180188 Isolated congenital breast hypoplasia/aplasia 180173, 183731 Morphological anomaly 202940 Anomaly of puberty or/and menstrual cycle of genetic origin 183731 Category 435564 Genetic precocious puberty in female 202940 Category 325665 Genetic difference of sex development of gynecological interest 183731 Category 98074 Gonadal dysgenesis of gynecological interest 325620, 325665 Category 325632 46,XY difference of sex development of gynecological interest 325620, 325665 Category 325638 Syndrome with difference of sex development of gynecological interest 325620, 325665 Category 183770 Rare genetic immune disease 98053 Category 101997 Primary immunodeficiency 183770, 98004 Category 101988 Primary immunodeficiency due to a defect in innate immunity 101997 Category 101985 Quantitative and/or qualitative congenital phagocyte defect 101988 Category 101987 Congenital neutropenia 101985, 506219 Category 2686 Cyclic neutropenia 101987 Disease 42738 Severe congenital neutropenia 101987 Clinical group 486 Autosomal dominant severe congenital neutropenia 42738 Disease 86788 X-linked severe congenital neutropenia 42738 Disease 439849 Autosomal recessive severe congenital neutropenia 42738 Category 331176 Severe congenital neutropenia due to G6PC3 deficiency 331184, 439849 Disease 420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency 439849 Disease 420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency 439849 Disease 423384 Severe congenital neutropenia due to JAGN1 deficiency 331184, 439849 Disease 331184 Syndrome with congenital neutropenia as a major feature 101987 Category 675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome 331184, 98290 Disease 2390 Lichtenstein syndrome 331184 Disease 90023 Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency 331184 Disease 369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome 331184 Disease 169142 Recurrent infections due to specific granule deficiency 331184 Disease 183681 Congenital functional phagocyte defect 101985 Category 674896 Non-syndromic congenital phagocyte functional defect 183681 Category 228423 GATA2 deficiency spectrum 674896 Disease 183707 Infantile LAD-like disease due to RAC2 deficiency 674896 Disease 2587 Myeloperoxidase deficiency 674896 Disease 619941 Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency 674896 Disease 674648 Syndrome with congenital phagocyte functional defect as a major feature 183681 Category 447740 Aggressive periodontitis 674648 Disease 101992 Immunodeficiency due to a complement cascade protein anomaly 101988 Category 459345 Immunodeficiency due to a complement cascade component deficiency 101992 Category 331187 Immunodeficiency due to MASP-2 deficiency 459345 Disease 331190 Immunodeficiency due to ficolin3 deficiency 459345 Disease 169147 Immunodeficiency due to a classical component pathway complement deficiency 459345 Disease 280133 Complement component 3 deficiency 459345 Disease 169150 Immunodeficiency due to a late component of complement deficiency 459345 Disease 459348 Immunodeficiency due to a complement regulatory deficiency 101992 Category 2966 Properdin deficiency 459348 Disease 169467 Recurrent Neisseria infections due to factor D deficiency 459348 Disease 200418 Immunodeficiency with factor I anomaly 459348 Disease 200421 Immunodeficiency with factor H anomaly 459348 Disease 183710 Genetic susceptibility to infections due to particular pathogens 101988 Category 324294 T-cell immunodeficiency with epidermodysplasia verruciformis 183710, 480549 Disease 1930 Herpes simplex virus encephalitis 166490, 183710, 98252, 98542 Disease 748 Mendelian susceptibility to mycobacterial diseases 183710 Clinical group 319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency 748 Category 99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency 319535 Disease 319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency 319535 Disease 319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency 319535 Disease 319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency 319535 Disease 319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency 319535, 477647, 481671 Disease 699618 Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency 319535 Disease 477857 Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency 319535 Disease 699615 Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency 319535 Disease 319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency 748 Category 319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 319539 Disease 319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 319539 Disease 331226 Susceptibility to infection due to TYK2 deficiency 319539 Disease 574957 Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency 319539 Disease 319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency 748 Category 319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency 319543 Disease 319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency 319543 Disease 319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency 319543 Disease 319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency 319543 Disease 319605 X-linked mendelian susceptibility to mycobacterial diseases 748 Disease 70592 Transient predisposition to invasive pyogenic bacterial infection 183710 Disease 391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency 183710 Disease 457088 Predisposition to invasive fungal disease due to CARD9 deficiency 183710 Disease 290839 Autoinflammatory syndrome with immune deficiency 101988 Category 300359 PLCG2-associated antibody deficiency and immune dysregulation 182228, 280373, 290839, 324933, 79391 Disease 619953 Familial hyperinflammatory lymphoproliferative immunodeficiency 290839 Disease 566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome 290839, 324924 Disease 331193 Other immunodeficiency syndromes due to defects in innate immunity 101988 Category 431156 Primary immunodeficiency with predisposition to severe viral infection 101988 Category 574918 Predisposition to severe viral infection due to IRF7 deficiency 431156 Disease 431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection 431156 Disease 437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity 431156, 506219 Disease 179006 Primary immunodeficiency due to a defect in adaptive immunity 101997 Category 83471 T-cell immunodeficiency with thymic aplasia 179006 Disease 101972 Combined T and B cell immunodeficiency 179006 Clinical group 183660 Severe combined immunodeficiency 101972, 506219 Clinical group 317416 T-B+ severe combined immunodeficiency 183660 Clinical group 504523 Severe combined immunodeficiency due to LAT deficiency 317416 Disease 276 T-B+ severe combined immunodeficiency due to gamma chain deficiency 317416 Disease 35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency 317416 Disease 169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency 317416 Disease 169157 T-B+ severe combined immunodeficiency due to CD45 deficiency 317416 Disease 169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta 317416 Disease 228003 Severe combined immunodeficiency due to CORO1A deficiency 317416 Disease 169095 Severe combined immunodeficiency due to FOXN1 deficiency 317416, 331220 Disease 317419 T-B- severe combined immunodeficiency 183660 Clinical group 275 Severe combined immunodeficiency due to DCLRE1C deficiency 317419 Disease 935 Short-limb skeletal dysplasia with severe combined immunodeficiency 317419 Disease 33355 Reticular dysgenesis 317419 Disease 317425 Severe combined immunodeficiency due to DNA-PKcs deficiency 317419 Disease 331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency 317419 Disease 688543 Reticular dysgenesis-like severe combined immunodeficiency 317419 Disease 397802 T+ B+ severe combined immunodeficiency 183660 Clinical group 480549 Non-severe combined immunodeficiency 101972, 506219 Clinical group 911 Combined immunodeficiency due to ZAP70 deficiency 480549 Disease 34592 Immunodeficiency by defective expression of MHC class I 480549 Disease 169082 Combined immunodeficiency due to CD3gamma deficiency 480549 Disease 169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation 480549 Disease 228000 Idiopathic CD4 lymphocytopenia 480549 Biological anomaly 231154 Combined immunodeficiency due to partial RAG1 deficiency 480549 Disease 464336 BENTA disease 480549 Disease 653751 X-linked combined immunodeficiency due to SASH3 deficiency 480549 Disease 676039 Combined immunodeficiency due to FOXN1 haploinsufficiency 480549 Disease 647804 Combined immunodeficiency due to FCHO1 deficiency 480549 Disease 688571 Combined immunodeficiency with low immunoglobulins and normal B cells 480549 Clinical group 695191 Late-onset combined immunodeficiency due to ICOSL deficiency 688571 Disease 697403 Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency 688571 Disease 697394 Combined immunodeficiency due to c-REL deficiency 688571 Disease 699578 Combined immunodeficiency with low Ig due to BCL10 deficiency 688571 Disease 697414 Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation 688571 Disease 697389 Combined immunodeficiency due to HELIOS deficiency 688571 Disease 697385 Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency 688571 Disease 699593 Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency 697385 Clinical subtype 699596 Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency 697385 Clinical subtype 695183 Late-onset combined immunodeficiency due to ICOS deficiency 688571 Disease 397787 Combined immunodeficiency due to IKBKB deficiency 688571 Disease 183663 Hyper-IgM syndrome with susceptibility to opportunistic infections 688571 Disease 101088 X-linked hyper-IgM syndrome 183663 Clinical subtype 101090 Hyper-IgM syndrome type 3 183663 Clinical subtype 447737 Combined immunodeficiency due to DOCK2 deficiency 688571 Disease 357237 Combined immunodeficiency due to CARD11 deficiency 688571 Disease 476113 Combined immunodeficiency due to TFRC deficiency 688571 Disease 357329 Combined immunodeficiency due to IL21R deficiency 688571 Disease 688563 Combined immunodeficiency with normal Ig and poor specific antibody response 480549 Clinical group 397964 Combined immunodeficiency due to MALT1 deficiency 688563 Disease 688594 Combined immunodeficiency due to RELB deficiency 169355, 688563 Disease 695164 Combined immunodeficiency with low B cells and hypogammaglobulinemia 480549 Category 700205 Combined immunodeficiency due to IKBKB gain-of-function mutation 695164 Disease 217390 Combined immunodeficiency due to DOCK8 deficiency 695164 Disease 447731 NIK deficiency 695164 Disease 314689 Combined immunodeficiency due to STK4 deficiency 695164 Disease 39041 Omenn syndrome 695164 Disease 504530 Combined immunodeficiency due to Moesin deficiency 695164 Disease 101977 Immunodeficiency predominantly affecting antibody production 179006 Category 1006 Alopecia antibody deficiency 101977, 79364 Disease 169443 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells 101977 Category 70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency 169443 Disease 183669 Agammaglobulinemia 101977 Category 229717 Non-syndromic agammaglobulinemia 183669 Disease 47 X-linked agammaglobulinemia 229717 Clinical subtype 33110 Autosomal non-syndromic agammaglobulinemia 229717 Clinical subtype 229720 Syndromic agammaglobulinemia 183669 Category 693627 Agammaglobulinemia-skin involvement-failure to thrive syndrome 229720, 79391 Disease 331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells 101977 Category 169139 Transient hypogammaglobulinemia of infancy 331232 Disease 2571 X-linked immunoneurologic disorder 331232 Disease 169110 Immunoglobulin heavy chain deficiency 331232 Disease 183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency 331232 Disease 331235 Selective IgM deficiency 331232 Disease 331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells 101977, 506219 Category 183666 Hyper-IgM syndrome without susceptibility to opportunistic infections 331240 Disease 101089 Hyper-IgM syndrome type 2 183666 Clinical subtype 101091 Hyper-IgM syndrome type 4 183666 Clinical subtype 101092 Hyper-IgM syndrome type 5 183666 Clinical subtype 696851 Common variable immunodeficiency and related disorders 101977 Category 696870 Common variable immunodeficiency phenotype due to germinal monogenic mutation 696851 Category 397596 Activated PI3K-delta syndrome 696870 Clinical group 693681 Activated PI3K-delta syndrome 2 397596 Disease 693661 Activated PI3K-delta syndrome 1 397596 Disease 317473 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency 696870 Disease 697417 Common variable immunodeficiency phenotype due to SEC61A1 deficiency 696870 Disease 696945 X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency 696870 Disease 696942 Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency 696870 Disease 696931 Common variable immunodeficiency phenotype due to TWEAK deficiency 696870 Disease 696874 NFKB1-related immune dysregulation 696870 Disease 696925 Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency 696870 Disease 696907 Common variable immunodeficiency phenotype due to homozygous TACI deficiency 696870 Disease 696904 Common variable immunodeficiency phenotype due to IRF2BP2 deficiency 696870 Disease 696894 Common variable immunodeficiency phenotype due to CD21 deficiency 696870 Disease 696881 Common variable immunodeficiency phenotype due to CD19/CD81 deficiency 696870 Disease 696857 Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations 696851 Disease 696863 Common variable immunodeficiency phenotype due to somatic mutations 696851 Disease 169361 Immune dysregulation disease with immunodeficiency 179006 Category 158038 Primary hemophagocytic lymphohistiocytosis 158032, 169361, 506219 Clinical group 331249 Primary hemophagocytic lymphohistiocytosis with hypopigmentation 158038 Category 664482 Primary hemophagocytic lymphohistiocytosis without hypopigmentation 158038 Category 169355 Immunodeficiency syndrome with autoimmunity 169361, 506219 Category 275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency 169355 Disease 444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency 169355, 182228, 280373 Disease 699590 Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency 169355 Disease 658951 Early-onset immune dysregulation due to DOCK11 complete deficiency 169361, 182231, 271870, 506219 Disease 664456 Immune dysregulation disease with immunodeficiency associated with EBV susceptibility 169361 Clinical group 664734 EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature 664456 Clinical group 2442 X-linked lymphoproliferative disease 664734 Clinical group 331217 Syndrome with combined immunodeficiency 179006 Category 2951 Absent thumb-short stature-immunodeficiency syndrome 331217 Malformation syndrome 169090 Combined immunodeficiency due to CRAC channel dysfunction 331217, 506219 Disease 317428 Combined immunodeficiency due to ORAI1 deficiency 169090 Clinical subtype 317430 Combined immunodeficiency due to STIM1 deficiency 169090 Clinical subtype 169346 DNA repair defect other than combined T-cell and B-cell immunodeficiencies 331217, 506219 Category 505227 Combined immunodeficiency due to GINS1 deficiency 169346 Disease 75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency 169346 Disease 169349 Immuno-osseous dysplasia 331217 Clinical group 329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis 324933, 331217 Disease 331220 Syndome with combined immunodeficiency due to thymic defect 331217 Category 331223 Hyper-IgE syndrome 331217 Clinical group 656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency 331223 Disease 619972 CADINS disease 331223, 79391 Disease 699599 ICHAD syndrome 331217 Disease 279943 Hereditary neutrophilia 183770, 98004 Disease 233655 Rare genetic vascular disease 496924, 98053 Category 86 Familial abdominal aortic aneurysm 233655 Disease 820 Sneddon syndrome 182228, 233655, 496924, 71281, 90077 Disease 51608 Generalized arterial calcification of infancy 233655 Disease 285014 Rare disease with thoracic aortic aneurysm and aortic dissection 233655, 97962 Category 229 Familial aortic dissection 285014 Disease 91387 Familial thoracic aortic aneurysm and aortic dissection 284993, 285014 Disease 284979 Neonatal Marfan syndrome 284993, 285014 Disease 284984 Aneurysm-osteoarthritis syndrome 284993, 285014 Disease 289601 Hereditary arterial and articular multiple calcification syndrome 233655 Disease 404553 Deficiency of adenosine deaminase 2 156143, 233655, 280369, 477647, 481671 Disease 271870 Rare genetic systemic or rheumatologic disease 98053 Category 2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome 182231, 271870 Disease 521450 LAMA5-related multisystemic syndrome 182222, 271870 Disease 300382 Progeroid and marfanoid aspect-lipodystrophy syndrome 182222, 271870 Disease 329967 Intermittent hydrarthrosis 182231, 271870, 486955 Disease 444116 Hereditary amyloidosis 271870 Category 314652 Variant ABeta2M amyloidosis 439246, 444116 Disease 619249 Rare hereditary connective tissue disease 271870 Category 284993 Marfan syndrome and Marfan-related disorders 182222, 619249 Category 619238 Rare hereditary autoinflammatory disease 271870 Category 324924 Hereditary periodic fever syndrome 101995, 324939, 619238 Category 500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome 324924 Disease 477647 Type 1 interferonopathy 619238, 93665 Category 300345 Autosomal systemic lupus erythematosus 182228, 477647, 481671, 506210 Disease 699605 NEMO deleted exon 5 autoinflammatory syndrome 477647, 481671 Disease 324933 Mixed autoinflammatory and autoimmune syndrome 319719, 619238, 93665 Category 324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation 324933 Disease 48104 Pyoderma gangrenosum 290842, 324927, 619238 Disease 538863 Classic pyoderma gangrenosum 48104 Clinical subtype 538866 Pustular pyoderma gangrenosum 48104 Clinical subtype 538869 Bullous pyoderma gangrenosum 48104 Clinical subtype 538872 Vegetative pyoderma gangrenosum 48104 Clinical subtype 275742 Genetic infertility 98053 Category 399980 Rare genetic male infertility 275742 Category 399764 Male infertility due to gonadal dysgenesis or sperm disorder 399980, 98048 Category 98313 Male infertility due to gonadal dysgenesis 399764 Category 399771 Male infertility due to sperm disorder 399764 Category 399775 Male infertility with spermatogenesis disorder 399771 Category 399786 Male infertility with spermatogenesis disorder due to single gene mutation 399775 Category 399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation 399786 Disease 399808 Male infertility with teratozoospermia due to single gene mutation 399786 Disease 529970 Male infertility due to acephalic spermatozoa 399808 Clinical subtype 137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa 399808 Clinical subtype 171709 Male infertility due to globozoospermia 399808 Clinical subtype 399813 Male infertility due to sperm motility disorder 399771 Category 276234 Non-syndromic male infertility due to sperm motility disorder 399813 Disease 399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin 399980 Category 399685 Rare male infertility due to testicular endocrine disorder 399572, 399983 Category 399994 Rare male infertility due to adrenal disorder of genetic origin 399983 Category 399998 Male infertility due to obstructive azoospermia of genetic origin 399980 Category 400003 Rare genetic disorder with obstructive azoospermia 399998 Category 400008 Rare genetic female infertility 275742 Category 399877 Rare female infertility due to gonadal dysgenesis 400008, 98049 Category 400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin 400008 Category 399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism 399831, 400011 Category 399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism 399839 Category 400018 Rare female infertility due to adrenal disorder of genetic origin 400011 Category 400022 Rare female infertility due to an anomaly of ovarian function of genetic origin 400011 Category 400025 Female infertility due to an implantation defect of genetic origin 400008 Category 404469 Rare female infertility due to oocyte maturation defect 400008, 98049 Category 488191 Female infertility due to oocyte meiotic arrest 404469 Disease 404466 Female infertility due to zona pellucida defect 404469 Disease 98301 Laminopathy 98053 Category 300755 Laminopathy with striated muscle involvement 98301 Category 300758 Laminopathy with peripheral neuropathy 98301 Category 300763 Laminopathy with lipodystrophy 98301 Category 300766 Laminopathy with premature aging 98301 Category 363250 Ciliopathy 98053 Category 156162 Renal ciliopathy 363250 Category 352540 Oncogenic osteomalacia 156162, 68415, 93419, 93603 Disease 156165 Retinal ciliopathy 363250 Category 156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene 156165 Category 156171 Retinal ciliopathy due to mutation in the RPGR gene 156165 Category 156174 Retinal ciliopathy due to mutation in the RPGRIP gene 156165 Category 156177 Retinal ciliopathy due to mutation in Usher gene 156165 Category 156180 Retinal ciliopathy due to mutation in nephronophthisis gene 156165 Category 156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene 156165 Category 250805 Serpinopathy 98053 Category 250808 Serpinopathy with toxic serpin polymerization 250805 Category 250811 Serpinopathy with loss of serpin function 250805 Category 98006 Rare neurologic disease Category 90058 Spinal cord injury 98006 Particular clinical situation in a disease or syndrome 90056 Moderate and severe traumatic brain injury 98006 Particular clinical situation in a disease or syndrome 363746 Balint syndrome 519343, 98006 Clinical syndrome 398147 Persistent idiopathic facial pain 98006 Disease 423662 Rare autonomic nervous system disorder 98006 Category 441 Pure autonomic failure 182058, 423662 Disease 396 Chronic hiccup 423662 Disease 443084 Baroreflex failure 423662 Clinical syndrome 101998 Rare epilepsy 98006 Category 139426 Perioral myoclonia with absences 98259 Disease 139431 Epilepsy with eyelid myoclonia 98259 Disease 363567 Acute encephalopathy with inflammation-mediated status epilepticus 166484, 98259 Clinical group 163703 Febrile infection-related epilepsy syndrome 363567 Disease 363549 Acute encephalopathy with biphasic seizures and late reduced diffusion 363567 Disease 363558 New-onset refractory status epilepticus 363567, 98260 Disease 1544 Benign focal seizures of adolescence 98260 Disease 166484 Inflammatory and autoimmune disease with epilepsy 101998 Category 117 Behçet disease 156140, 166484, 280926, 280930, 280933, 290842, 324936, 324953, 567558 Disease 900 Granulomatosis with polyangiitis 156152, 166484, 209007, 567560 Disease 1214 Progressive hemifacial atrophy 102005, 166484 Disease 1459 Celiac disease-epilepsy-cerebral calcification syndrome 166484 Disease 1929 Rasmussen subacute encephalitis 166484, 98255 Disease 83467 Morvan syndrome 166484, 221114, 98750 Disease 93552 Pediatric systemic lupus erythematosus 166484, 182228, 264704, 280373, 567560, 93573 Disease 624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies 166484, 36388, 622014 Disease 624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies 166484, 36388, 622014 Disease 166490 Infectious disease with epilepsy 101998 Category 2806 Subacute sclerosing leukoencephalitis 166490, 98255 Disease 297 Tick-borne encephalitis 166490, 98252 Disease 33475 Meningococcal meningitis 166490, 98010 Disease 55655 Pneumococcal meningitis 163582, 166490, 98010 Disease 79139 Japanese encephalitis 166490, 98252 Disease 83476 West-Nile encephalitis 166490, 98252 Disease 83482 Mycoplasma encephalitis 166490, 98252 Disease 83483 La Crosse encephalitis 166490, 98252 Disease 83484 St. Louis encephalitis 166490, 98252 Disease 83593 Western equine encephalitis 166490, 98252 Disease 83594 Eastern equine encephalitis 166490, 98252 Disease 83595 Colorado tick fever 166490, 98252 Disease 83597 Acute disseminated encephalomyelitis 166490, 228145, 499047, 622014 Disease 592894 Acute disseminated encephalomyelitis with anti-MOG antibodies 83597 Clinical subtype 592900 Acute disseminated encephalomyelitis without anti-MOG antibodies 83597 Clinical subtype 83600 Encephalitis lethargica 166490, 306666, 98255 Disease 83616 Rubella panencephalitis 166490, 98252, 98255 Disease 637051 Borna virus encephalitis 166490, 98252 Disease 102000 Medullar disease 98006 Category 623801 Acute flaccid myelitis 102000 Disease 3280 Syringomyelia 102000 Clinical group 99857 Secondary syringomyelia 3280 Disease 831 Congenital cervical spinal stenosis 102000 Disease 90021 Radiation myelitis 102000, 521132 Disease 139417 Acute transverse myelitis 102000 Disease 592873 Acute transverse myelitis with anti-MOG antibodies 139417 Clinical subtype 139423 Idiopathic acute transverse myelitis 139417 Clinical subtype 102002 Rare ataxia 98006 Category 247239 Non-hereditary degenerative ataxia 102002 Category 227510 Multiple system atrophy, cerebellar type 102, 247239 Clinical subtype 247234 Sporadic adult-onset ataxia of unknown etiology 247239 Disease 247242 Acquired ataxia 102002 Category 623638 Immune-mediated cerebellar ataxia 247242, 622014 Clinical group 624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies 623638 Disease 623626 Paraneoplastic cerebellar degeneration 36388, 623638 Disease 624244 Postinfectious cerebellitis 623638 Disease 624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies 623638 Disease 83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis 177101, 247242, 622014, 98033 Disease 247245 Superficial siderosis 247242 Disease 102003 Rare movement disorder 98006 Category 3198 Stiff person spectrum disorder 102003, 181381, 182064 Disease 438266 Progressive encephalomyelitis with rigidity and myoclonus 3198 Clinical subtype 443192 Classic stiff person syndrome 3198 Clinical subtype 443804 Focal stiff limb syndrome 3198 Clinical subtype 68402 Rare parkinsonian disorder 102003 Category 306666 Rare parkinsonian syndrome due to neurodegenerative disease 68402 Category 75567 Primary progressive freezing gait 306666 Clinical syndrome 97349 Postencephalitic parkinsonism 306666, 98542 Disease 97355 Caribbean parkinsonism 306666, 89043 Disease 98933 Multiple system atrophy, parkinsonian type 102, 306666 Clinical subtype 306679 Rare parkinsonian syndrome due to intoxication 68402 Category 306682 Manganese poisoning 306679, 556508 Disease 306686 Delayed encephalopathy due to carbon monoxide poisoning 306679, 556508 Disease 306692 Cyanide-induced parkinsonism-dystonia 306679, 556508 Disease 391655 Off-periods in Parkinson disease not responding to oral treatment 68402 Particular clinical situation in a disease or syndrome 71519 Psychogenic movement disorders 102003 Clinical syndrome 306695 Miscellaneous movement disorder due to neurodegenerative disease 102003 Category 204 Sporadic Creutzfeldt-Jakob disease 306695, 576356 Disease 102 Multiple system atrophy 182058, 182070, 306695 Disease 454700 Acquired Creutzfeldt-Jakob disease 306695, 576360 Clinical group 576370 Variant Creutzfeldt-Jakob disease 454700 Disease 576379 Iatrogenic Creutzfeldt-Jakob disease 454700 Disease 454745 Kuru 306695, 576360 Disease 454742 Variably protease-sensitive prionopathy 306695, 576356 Disease 306773 Hyperekplexia 102003 Clinical group 306776 Sporadic hyperekplexia 306773 Disease 617440 Painful legs and moving toes syndrome 102003 Clinical syndrome 494457 Rare hyperkinetic movement disorder 102003 Category 68363 Rare dystonia 494457 Category 306741 Hemidystonia-hemiatrophy syndrome 68363 Disease 306712 Rare tremor disorder 494457 Category 3350 Tremor-nystagmus-duodenal ulcer syndrome 306712 Disease 238606 Primary orthostatic tremor 306712 Disease 306715 Rare choreic movement disorder 494457 Category 306727 Postinfectious autoimmune disease with chorea 306715 Category 66624 PANDAS 306727 Disease 306731 Sydenham chorea 306727 Particular clinical situation in a disease or syndrome 306747 Rare myoclonus 494457 Category 306753 Rare disease with myoclonus as a major feature 306747 Category 1183 Opsoclonus-myoclonus syndrome 102005, 306753, 36388, 519341 Disease 137817 Arachnoiditis 98006 Disease 137929 Neonatal brainstem dysfunction 98006 Disease 182064 Rare neuroinflammatory or neuroimmunological disease 98006 Category 499096 Isolated optic neuritis 182064, 499047 Disease 499085 Chronic relapsing inflammatory optic neuritis 499096 Clinical subtype 659634 Relapsing isolated optic neuritis 499096 Clinical subtype 659626 Single isolated optic neuritis 499096 Clinical subtype 2103 Guillain-Barré syndrome 182064, 207038 Clinical group 98916 Acute inflammatory demyelinating polyradiculoneuropathy 2103 Disease 98917 Acute motor and sensory axonal neuropathy 2103 Disease 98918 Acute motor axonal neuropathy 2103 Disease 231413 Variant of Guillain-Barré syndrome 2103 Category 231416 Regional variant of Guillain-Barré syndrome 231413 Clinical group 79138 Bickerstaff brainstem encephalitis 231416, 622014 Disease 98919 Miller Fisher syndrome 231416 Disease 231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome 231416 Disease 480701 Facial diplegia with paresthesias 231416 Disease 231419 Functional variant of Guillain-Barré syndrome 231413 Clinical group 231445 Paraparetic variant of Guillain-Barré syndrome 231419 Disease 231450 Acute pure sensory neuropathy 231419 Disease 231457 Acute pandysautonomia 231419 Disease 231466 Acute sensory ataxic neuropathy 231419 Disease 2932 Chronic inflammatory demyelinating polyneuropathy 182064, 208978 Disease 48162 Lewis-Sumner syndrome 2932 Clinical subtype 3437 Vogt-Koyanagi-Harada disease 182064, 280898, 716195, 98641 Disease 71279 CANOMAD syndrome 182064, 208974, 209010 Disease 102005 Brain inflammatory disease 182064 Category 97275 Encephalitis 102005 Category 622014 Autoimmune encephalitis 97275 Clinical group 624190 Paraneoplastic isolated brainstem encephalitis 36388, 622014 Disease 217253 NMDA receptor encephalitis 622014 Disease 623615 Autoimmune limbic encephalitis 36388, 622014 Disease 624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies 622014 Disease 624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies 622014 Disease 163921 Posttransplant acute limbic encephalitis 565779, 97275 Particular clinical situation in a disease or syndrome 98252 Infectious encephalitis 163585, 97275, 98010 Category 324625 Chikungunya 98252 Disease 99825 Nipah virus disease 98252 Disease 217260 Progressive multifocal leukoencephalopathy 98252 Disease 263524 Acute necrotizing encephalopathy of childhood 98252 Disease 324632 Hendra virus infection 98252 Disease 98255 Chronic encephalitis 97275, 98010 Category 48435 Postinfectious vasculitis 102005, 445197 Disease 449427 IgG4-related pachymeningitis 102005, 596448 Clinical subtype 228145 Multiple sclerosis variant 182064 Category 59298 Schilder disease 228145 Disease 71211 Neuromyelitis optica spectrum disorder 228145, 499047 Disease 592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies 71211 Clinical subtype 592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies 71211 Clinical subtype 592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies 71211 Clinical subtype 228157 Marburg acute multiple sclerosis 228145 Disease 228165 Baló concentric sclerosis 228145 Disease 477738 Pediatric multiple sclerosis 228145 Disease 284448 CLIPPERS 182064 Disease 182070 Rare neurodegenerative disease 98006 Category 684290 Hypertrophic olivary degeneration 182070 Disease 98534 Neurodegenerative disease with dementia 182070, 89043 Category 90020 Parkinson-dementia complex of Guam 98534 Disease 95432 Primary progressive aphasia 98534 Clinical group 250831 Logopenic progressive aphasia 95432 Disease 98535 Frontotemporal degeneration with dementia 98534 Clinical group 56970 Human prion disease 98534 Category 576356 Sporadic human prion disease 56970 Category 586130 Sporadic fatal insomnia 576356 Disease 576360 Acquired human prion disease 56970 Category 221074 Marchiafava-Bignami disease 182070 Disease 314566 Primary progressive apraxia of speech 182070 Disease 454706 Progressive muscular atrophy 182070, 98503 Disease 211047 Specific learning disability 98006 Clinical group 211053 Specific language disorder 211047 Clinical group 1799 Familial developmental dysphasia 211053 Clinical syndrome 221117 Gerstmann syndrome 98006 Disease 238624 Idiopathic intracranial hypertension 98006 Disease 252190 Inherited nervous system cancer-predisposing syndrome 98006 Category 2481 Neurocutaneous melanocytosis 252190, 294057 Disease 443101 Hypothalamic adipsic hypernatraemia syndrome 181384, 252190 Disease 276174 Idiopathic recurrent stupor 98006 Disease 3465 Worster-Drought syndrome 98006 Disease 29822 Spontaneous periodic hypothermia 98006 Disease 36388 Paraneoplastic neurologic syndrome 98006 Category 43393 Lambert-Eaton myasthenic syndrome 36388, 464764, 98750 Disease 71505 Cancer-associated retinopathy 36388, 716410 Disease 208999 Paraneoplastic sensory ganglionopathy 208984, 36388 Disease 68354 Rare sleep disorder 98006 Category 33208 Idiopathic hypersomnia 68354 Disease 33543 Kleine-Levin syndrome 68354 Disease 73267 Non-24-hour sleep-wake syndrome 68354 Disease 420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea 68354, 98033 Disease 619284 Narcolepsy 68354 Clinical group 2073 Narcolepsy type 1 619284 Disease 83465 Narcolepsy type 2 619284 Disease 68381 Neuromuscular disease 98006 Category 71864 Muscular channelopathy 68381 Category 98750 Autoimmune neurological channelopathy 71864 Category 84142 Isaacs syndrome 221114, 98750 Disease 98472 Skeletal muscle disease 68381 Category 206976 Periodic paralysis 206634 Clinical group 79102 Thyrotoxic periodic paralysis 206976 Disease 206638 Acquired skeletal muscle disease 98472 Category 1320 Idiopathic camptocormia 206638 Morphological anomaly 592 Macrophagic myofasciitis 206638 Disease 98482 Idiopathic inflammatory myopathy 182228, 206638 Category 611 Inclusion body myositis 98482 Disease 732 Polymyositis 567558, 98482 Disease 221 Dermatomyositis 290836, 567558, 98482 Disease 645617 Amyopathic dermatomyositis 221 Clinical subtype 645626 Adermatopathic dermatomyositis 221 Clinical subtype 645613 Classical dermatomyositis 221 Clinical subtype 3165 Eosinophilic fasciitis 280373, 90077, 98482 Disease 81 Antisynthetase syndrome 264745, 98482 Disease 48918 Focal myositis 98482 Disease 206569 Immune-mediated necrotizing myopathy 98482 Disease 206572 Overlap myositis 98482 Disease 247718 Inflammatory myopathy with abundant macrophages 98482 Disease 247724 Idiopathic eosinophilic myositis 98482 Disease 329888 Juvenile idiopathic inflammatory myopathy 98482 Category 93568 Juvenile polymyositis 264704, 280373, 329888, 567558 Disease 93672 Juvenile dermatomyositis 264704, 280373, 290836, 329888, 567558 Disease 329894 Juvenile overlap myositis 329888 Disease 206982 Muscular tumor 206638 Category 780 Rhabdomyosarcoma 206982, 3394 Disease 99756 Alveolar rhabdomyosarcoma 780 Clinical subtype 293199 Pleomorphic rhabdomyosarcoma 780 Clinical subtype 99757 Embryonal rhabdomyosarcoma 780 Clinical subtype 79105 Myxofibrosarcoma 206982, 3394 Disease 206988 Infectious, fungal or parasitic myopathy 206638 Category 206991 Viral myositis 206988 Disease 206994 Bacterial myositis 206988 Disease 206997 Parasitic myositis 206988 Category 863 Trichinellosis 163588, 206997 Disease 207000 Fungal myositis 206988 Disease 447881 Idiopathic dropped head syndrome 206638 Clinical syndrome 98491 Neuromuscular junction disease 68381 Category 98494 Acquired neuromuscular junction disease 98491 Category 1267 Botulism 163582, 519286, 519347, 98494 Disease 228371 Foodborne botulism 1267 Clinical subtype 230800 Toxin-mediated infectious botulism 1267 Clinical subtype 178475 Wound botulism 230800 Etiological subtype 178481 Intestinal botulism 230800 Clinical subtype 178478 Infant botulism 178481 Clinical subtype 178487 Adult intestinal botulism 178481 Clinical subtype 254504 Inhalational botulism 1267 Clinical subtype 254509 Iatrogenic botulism 1267 Clinical subtype 464764 Immune-mediated acquired neuromuscular junction disease 98494 Clinical group 589 Myasthenia gravis 464764, 519347 Disease 391490 Adult-onset myasthenia gravis 589 Clinical subtype 391497 Juvenile myasthenia gravis 589 Clinical subtype 391504 Transient neonatal myasthenia gravis 398091, 589 Clinical subtype 206575 Rippling muscle disease with myasthenia gravis 464764 Disease 98503 Motor neuron disease 68381 Category 98506 Acquired motor neuron disease 98503 Category 2912 Poliomyelitis 98010, 98506 Disease 2942 Postpoliomyelitis syndrome 98506 Disease 65684 Monomelic amyotrophy 98506 Disease 94091 Mills syndrome 98506 Disease 99965 O'Sullivan-McLeod syndrome 98506 Disease 71281 Rare central nervous system and retinal vascular disease 98006 Category 482092 Rare idiopathic macular telangiectasia 71281, 716432, 716466 Category 353344 Idiopathic macular telangiectasia type 1 482092 Disease 353351 Idiopathic macular telangiectasia type 3 482092 Disease 838 Susac syndrome 182228, 496924, 71281, 716459 Disease 90065 Acquired aneurysmal subarachnoid hemorrhage 71281 Particular clinical situation in a disease or syndrome 102006 Neurovascular malformation 71281 Category 353334 Congenital retinal arteriovenous communication 102006, 716450 Morphological anomaly 209943 IRVAN syndrome 71281, 716459 Disease 329217 Cerebral sinovenous thrombosis 71281 Disease 353356 Vasoproliferative tumor of the retina 101950, 71281 Disease 439175 Pediatric arterial ischemic stroke 496924, 71281 Clinical syndrome 447788 Cerebral visual impairment 519343, 71281 Clinical syndrome 477768 Moyamoya angiopathy 71281 Clinical group 137577 Neonatal hypoxic and ischemic brain injury 71281 Particular clinical situation in a disease or syndrome 83452 Complex regional pain syndrome 98006 Disease 99994 Complex regional pain syndrome type 2 83452 Clinical subtype 99995 Complex regional pain syndrome type 1 83452 Clinical subtype 87277 Rare intellectual disability 98006 Category 102369 Rare syndromic intellectual disability 87277 Category 98010 Infectious disease of the nervous system 98006 Category 3299 Tetanus 163582, 98010 Disease 770 Rabies 163585, 98010 Disease 289326 Tropical spastic paraparesis 163585, 98010 Disease 641396 Central nervous system tuberculosis 3389, 98010 Disease 98022 Rare headache 98006 Category 157843 Trigeminal autonomic cephalalgia 98022 Clinical group 57145 SUNCT syndrome 157843 Disease 157835 Paroxysmal hemicrania 157843 Disease 443070 Hemicrania continua 157843 Disease 276429 Hypnic headache 98022 Disease 284388 Reversible cerebral vasoconstriction syndrome 98022 Clinical syndrome 443180 Spontaneous intracranial hypotension 98022 Disease 353253 Burning mouth syndrome 98022 Disease 98033 Rare neurologic disease with psychiatric involvement 98006 Category 89043 Rare dementia 98033 Category 97353 Dementia pugilistica 89043 Disease 98542 Infectious disease with dementia 89043 Category 157823 Klüver-Bucy syndrome 98033 Clinical syndrome 648919 Idiopathic catatonia 98033 Disease 525738 Prepubertal anorexia nervosa 181384, 98033 Disease 443173 Postpartum psychosis 163637, 98033 Disease 623789 Body integrity dysphoria 98033 Disease 641496 Childhood-onset schizophrenia 98033 Disease 98062 Rare nervous system tumor 98006, 98057 Category 46135 Primary central nervous system lymphoma 279911, 289644, 98062 Disease 251558 Rare tumor of neuroepithelial tissue 98062 Category 182067 Glial tumor 251558 Clinical group 301 Ependymal tumor 182067 Clinical group 530792 RELA fusion-positive ependymoma 301 Disease 251646 Anaplastic ependymoma 301 Disease 251636 Ependymoma 301 Disease 251639 Subependymoma 301 Disease 251643 Myxopapillary ependymoma 301 Disease 94 Astrocytoma 182067 Clinical group 251561 High-grade astrocytoma 94 Clinical group 695136 Infant-type hemispheric glioma 251561 Disease 715694 Infant-type hemispheric glioma NTRK-altered 695136 Etiological subtype 715697 Infant-type hemispheric glioma ALK-altered 695136 Etiological subtype 715701 Infant-type hemispheric glioma ROS1-altered 695136 Etiological subtype 715704 Infant-type hemispheric glioma MET-altered 695136 Etiological subtype 715721 High-grade astrocytoma with piloid features 251561 Disease 715724 Diffuse pediatric-type high-grade glioma-H3-wildtype-IDH-wildtype 251561 Disease 715950 Diffuse hemispheric glioma-H3 G34-mutant 251561 Disease 497188 Diffuse intrinsic pontine glioma 251561 Disease 360 Glioblastoma 251561 Disease 251576 Gliosarcoma 360 Histopathological subtype 251579 Giant cell glioblastoma 360 Histopathological subtype 251582 Gliomatosis cerebri 251561 Disease 251589 Anaplastic astrocytoma 251561 Disease 251592 Low-grade astrocytoma 94 Clinical group 251595 Diffuse astrocytoma 251592 Disease 251598 Protoplasmic astrocytoma 251595 Histopathological subtype 251601 Fibrillary astrocytoma 251595 Histopathological subtype 251604 Gemistocytic astrocytoma 251595 Histopathological subtype 251607 Pleomorphic xanthoastrocytoma 251592 Disease 251612 Pilocytic astrocytoma 251592 Disease 673585 Pilocytic astrocytoma with histological features of anaplasia 251612 Clinical subtype 673580 Classic pilocytic astrocytoma 251612 Clinical subtype 251615 Pilomyxoid astrocytoma 251612 Histopathological subtype 251618 Subependymal giant cell astrocytoma 251592 Disease 251623 Pituicytoma 251592 Disease 717268 Circumscribed astrocytic glioma 94 Category 46484 Oligodendroglial tumor 182067 Clinical group 251627 Oligodendroglioma 46484 Disease 251630 Anaplastic oligodendroglioma 46484 Disease 251651 Oligoastrocytic tumor 182067 Clinical group 251656 Oligoastrocytoma 251651 Disease 251663 Anaplastic oligoastrocytoma 251651 Disease 251668 Glial tumor of neuroepithelial tissue with unknown origin 182067 Clinical group 251671 Angiocentric glioma 251668 Disease 251674 Chordoid glioma 251668 Disease 251679 Astroblastoma 251668 Disease 251852 Embryonal tumor of neuroepithelial tissue 251558 Category 616 Medulloblastoma 251852 Disease 251855 Anaplastic/large cell medulloblastoma 616 Histopathological subtype 251858 Medulloblastoma with extensive nodularity 616 Histopathological subtype 251863 Desmoplastic/nodular medulloblastoma 616 Histopathological subtype 251867 Classic medulloblastoma 616 Histopathological subtype 99966 Atypical teratoid rhabdoid tumor 251852, 3394 Disease 251870 Central nervous system embryonal tumor 251852 Clinical group 635 Neuroblastoma 251870 Disease 1957 Esthesioneuroblastoma 251870 Disease 251877 Ganglioneuroblastoma 251870 Disease 656417 Embryonal tumor with multilayered rosettes 251870 Disease 251896 Choroid plexus tumor 251558 Clinical group 2807 Papilloma of choroid plexus 251896 Disease 251899 Choroid plexus carcinoma 251896 Disease 251902 Atypical papilloma of choroid plexus 251896 Disease 251905 Pineal tumor of neuroepithelial tissue 251558 Clinical group 251909 Pineoblastoma 251905 Disease 251912 Pineocytoma 251905 Disease 251915 Papillary tumor of the pineal region 251905 Disease 251919 Pineal parenchymal tumor of intermediate differentiation 251905 Disease 251924 Neuronal tumor 251558 Clinical group 73256 Central neurocytoma 251924 Disease 251927 Extraventricular neurocytoma 251924 Disease 251931 Cerebellar liponeurocytoma 251924 Disease 251934 Mixed neuronal-glial tumor 251558 Clinical group 251937 Gangliocytoma 251934 Disease 251940 Desmoplastic infantile astrocytoma/ganglioglioma 251934 Disease 251946 Dysembryoplastic neuroepithelial tumor 251934 Disease 251949 Ganglioglioma 251934 Disease 251957 Anaplastic ganglioglioma 251934 Disease 251962 Papillary glioneuronal tumor 251934 Disease 251975 Rosette-forming glioneuronal tumor 251934 Disease 251992 Ganglioneuroma 251934 Disease 251995 Primary germ cell tumor of central nervous system 363579, 98062 Category 48736 Embryonal carcinoma of the central nervous system 180226, 251995 Clinical subtype 91352 Germinoma of the central nervous system 182127, 251995, 95503 Clinical subtype 252006 Yolk sac tumor of central nervous system 251995, 876 Clinical subtype 252015 Choriocarcinoma of the central nervous system 251995 Disease 252018 Teratoma of the central nervous system 251995, 883 Clinical subtype 252021 Mixed germ cell tumor of central nervous system 180234, 251995 Clinical subtype 252025 Tumor of meninges 98062 Category 2495 Meningioma 252025, 95503 Disease 252028 Primary melanocytic tumor of central nervous system 252025 Category 252031 Diffuse leptomeningeal melanocytosis 252028 Disease 252046 Meningeal melanocytoma 252028 Disease 252050 Primary melanoma of the central nervous system 252028 Disease 263662 Familial multiple meningioma 252025 Disease 252054 Hemangioblastoma 98062 Disease 252057 Tumor of cranial and spinal nerves 98062 Category 2086 Optic pathway glioma 252057, 95503 Disease 3148 Malignant peripheral nerve sheath tumor 252057, 3394 Disease 252212 Malignant triton tumor 3148 Histopathological subtype 252128 Malignant peripheral nerve sheath tumor with perineurial differentiation 3148 Histopathological subtype 85102 Perineurioma 252057 Clinical group 100002 Extraneural perineurioma 85102 Disease 100000 Reticular perineurioma 100002 Clinical subtype 100001 Sclerosing perineurioma 100002 Clinical subtype 100003 Intraneural perineurioma 85102 Disease 252131 Benign peripheral nerve sheath tumor 252057 Category 252164 Benign schwannoma 252131 Disease 252175 Vestibular schwannoma 252164, 98061 Clinical subtype 252183 Neurofibroma 252131 Disease 300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome 252131 Malformation syndrome 590539 Isolated melanotic schwannoma 252131, 3394 Disease 279897 Primary oculocerebral lymphoma 101950, 279911, 98062 Disease 98496 Rare peripheral neuropathy 98006 Category 182086 Acquired peripheral neuropathy 98496 Category 2901 Neuralgic amyotrophy 182086 Disease 60039 Pudendal nerve entrapment syndrome 182086 Disease 206613 Infectious disease with peripheral neuropathy 182086 Category 3020 Ramsay Hunt syndrome 163585, 206613 Disease 548 Leprosy 163582, 206613, 399824 Disease 91546 Lyme disease 163582, 206613 Disease 207038 Acute and subacute inflammatory demyelinating polyneuropathy 182086 Category 206594 Subacute inflammatory demyelinating polyneuropathy 207038 Disease 208974 Chronic acquired demyelinating polyneuropathy 182086 Clinical group 2905 POEMS syndrome 208974, 209010, 209016, 98282 Disease 641 Multifocal motor neuropathy 208974 Disease 208978 Chronic polyradiculoneuropathy 208974 Clinical group 208984 Acquired sensory ganglionopathy 182086 Category 208989 Non-paraneoplastic sensory ganglionopathy 208984 Disease 209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy 182086 Category 727 Microscopic polyangiitis 156152, 209007, 567560 Disease 767 Polyarteritis nodosa 156143, 209007, 280369, 567560 Disease 439737 Primary polyarteritis nodosa 767 Clinical subtype 439729 Cutaneous polyarteritis nodosa 439737 Clinical subtype 439755 Single-organ polyarteritis nodosa 439737 Clinical subtype 439762 Systemic polyarteritis nodosa 439737 Clinical subtype 439746 Secondary polyarteritis nodosa 767 Clinical subtype 809 Mixed connective tissue disease 182104, 209007, 251312, 567558 Disease 91138 Cryoglobulinemic vasculitis 156149, 209007, 264973, 280369, 567560 Disease 93554 Mixed cryoglobulinemia type II 91138 Etiological subtype 93555 Mixed cryoglobulinemia type III 91138 Etiological subtype 209010 Peripheral neuropathy associated with monoclonal gammopathy 182086 Category 91139 Simple cryoglobulinemia 182228, 209010, 248365 Disease 209004 Polyneuropathy associated with IgM monoclonal gammopathy 209010 Disease 209013 Acquired amyloid peripheral neuropathy 182086 Category 209016 Hematological disease associated with an acquired peripheral neuropathy 182086 Category 29073 Multiple myeloma 209016, 98282 Disease 86855 Plasmacytoma 209016, 98282 Disease 100021 Primary plasmacytoma of the bone 86855 Clinical subtype 100022 Extramedullary soft tissue plasmacytoma 86855 Clinical subtype 207046 Malignant lymphoma with peripheral neuropathy 209016 Category 33226 Waldenström macroglobulinemia 207046, 300842 Disease 206586 Neurolymphomatosis 207046 Disease 209019 Solid tumor associated with an acquired peripheral neuropathy 182086 Category 221109 Cranial neuralgia 182086 Clinical group 221078 Combined hyperactive dysfunction syndrome of the cranial nerves 221109 Disease 221091 Trigeminal neuralgia 221109 Disease 221098 Glossopharyngeal neuralgia 221109 Disease 664901 Trigeminal trophic syndrome 221109, 90077 Disease 221114 Acquired peripheral movement disorder 182086 Category 439202 Non-recovering obstetric brachial plexus lesion 182086 Disease 521123 Radiation-induced plexopathy 182086, 521132 Disease 658549 Idiopathic small fibers neuropathy 182086 Disease 662240 Frey syndrome 182086 Clinical syndrome 100073 Neurogenic thoracic outlet syndrome 182086, 97330 Clinical subtype 51890 Anterior cutaneous nerve entrapment syndrome 182086 Disease 2048 Foix-Chavany-Marie syndrome 182086 Malformation syndrome 2406 Locked-in syndrome 98006 Clinical syndrome 1314 Symmetrical thalamic calcifications 98006 Disease 466658 Rare disease with malignant hyperthermia 98006 Category 94093 Neuroleptic malignant syndrome 466658 Disease 43116 Serotonin syndrome 466658 Disease 466650 Exercise-induced malignant hyperthermia 466658 Disease 521236 Primary orthostatic disorder 98006 Category 182058 Primary orthostatic hypotension 521236 Clinical group 686468 Post 5-alpha-reductase inhibitors treatment syndrome 98006 Disease 686475 Post-selective serotonin reuptake inhibitor sexual dysfunction 98006 Disease 165711 Rare abdominal surgical disease Category 1160 Chylous ascites 165711 Disease 49041 IgG4-related retroperitoneal fibrosis 165711, 596448 Clinical subtype 168803 Primary peritoneal tumor 165711, 98057 Category 676030 Primary benign peritoneal tumor 168803 Category 71274 Disseminated peritoneal leiomyomatosis 506216, 676030 Disease 676033 Well-differentiated papillary mesothelial tumour of the peritoneum 676030 Disease 675976 Adenomatoid tumour of the peritoneum 676030 Disease 168816 Peritoneal inclusion cyst 676030 Disease 168807 Primary malignant peritoneal tumor 168803, 506216 Category 26790 Pseudomyxoma peritonei 168807 Disease 83469 Desmoplastic small round cell tumor 168807, 3394 Disease 168811 Malignant peritoneal mesothelioma 168807 Disease 168829 Primary peritoneal carcinoma 168807 Disease 676036 Peritoneal mesothelioma in situ 168807 Disease 238593 IgG4-related mesenteritis 165711, 596448 Clinical subtype 293208 Celiac artery compression syndrome 165711 Disease 306553 Myospherulosis 165711, 68329 Disease 449400 IgG4-related aortitis 165711, 596448 Clinical subtype 57146 Rare hepatic disease Category 101938 Rare vascular liver disease 57146 Category 480524 Idiopathic peliosis hepatis 101938 Disease 131 Budd-Chiari syndrome 101938, 506210 Disease 890 Hepatic veno-occlusive disease 101938, 506210 Disease 854 Non-malignant and non-cirrhotic portal vein thrombosis 101938 Clinical syndrome 699068 Fontan-associated liver disease 101938, 101939, 496924, 506210 Disease 596937 Portosinusoidal vascular disease 101938 Disease 596941 Incomplete septal cirrhosis 596937 Histopathological subtype 48372 Nodular regenerative hyperplasia of the liver 506210, 596937 Histopathological subtype 64743 Hepatoportal sclerosis 596937 Histopathological subtype 101939 Rare parenchymal liver disease 57146 Category 2137 Autoimmune hepatitis 101939, 506210 Disease 563576 Autoimmune hepatitis type 1 2137 Clinical subtype 563581 Autoimmune hepatitis type 2 2137 Clinical subtype 563589 Seronegative autoimmune hepatitis 2137 Clinical subtype 35063 Fulminant viral hepatitis 101939, 506210 Disease 90003 Inflammatory pseudotumor of the liver 101939 Disease 555434 Fibrohistiocytic inflammatory pseudotumor of the liver 90003 Clinical subtype 555437 Lymphoplasmacytic inflammatory pseudotumor of the liver 284264, 90003 Clinical subtype 209919 Idiopathic copper-associated cirrhosis 101939 Disease 210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome 101939, 264740 Disease 243367 Acute fatty liver of pregnancy 101939, 163637 Disease 485426 Isolated congenital hepatic fibrosis 101939, 506210 Disease 562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome 101939, 101941, 506210 Disease 69665 Intrahepatic cholestasis of pregnancy 101940, 163637 Disease 101941 Rare biliary tract disease 57146 Category 567983 Parenteral nutrition-associated cholestasis 101941 Particular clinical situation in a disease or syndrome 480512 Idiopathic ductopenia 101941, 506210 Disease 480506 Primary intrahepatic lithiasis 101941 Disease 480501 Choledochal cyst 101941, 506210 Morphological anomaly 447771 Sclerosing cholangitis 101941, 506210 Clinical group 171 Primary sclerosing cholangitis 447771 Disease 447764 IgG4-related sclerosing cholangitis 447771, 596448 Clinical subtype 447774 Secondary sclerosing cholangitis 447771 Disease 186 Primary biliary cholangitis 101941, 506210 Disease 779 Reynolds syndrome 101941, 182228, 290836, 567558 Disease 498345 Biliary atresia and associated disorders 101941 Category 498350 Syndromic biliary atresia 498345 Clinical group 440987 Isolated agenesis of gallbladder 101941 Morphological anomaly 521219 Mirizzi syndrome 101941 Clinical syndrome 101943 Rare hepatic and biliary tract tumor 57146, 98059 Category 306633 Rare tumor of gallbladder and extrahepatic biliary tract 101943 Category 56044 Carcinoma of gallbladder and extrahepatic biliary tract 306633 Clinical group 70567 Cholangiocarcinoma 424936, 506210, 56044 Disease 99978 Perihilar cholangiocarcinoma 56044 Disease 424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract 56044 Disease 424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract 56044 Disease 529852 Combined hepatocellular carcinoma and cholangiocarcinoma 424936, 506210, 56044 Disease 100086 Gallbladder neuroendocrine tumor 100101, 306633 Disease 306636 Rare tumor of liver and intrahepatic biliary tract 101943 Category 449 Hepatoblastoma 306636, 506210 Disease 386 Hepatic cystic hamartoma 306636 Disease 54272 Hepatocellular adenoma 306636 Disease 178315 Undifferentiated embryonal sarcoma of the liver 306636 Disease 424933 Rare malignant epithelial tumor of liver and intrahepatic biliary tract 306636 Category 100085 Primary hepatic neuroendocrine carcinoma 100101, 424933, 506210 Disease 424936 Carcinoma of liver and intrahepatic biliary tract 424933 Category 88673 Hepatocellular carcinoma 424936, 506210 Clinical group 33402 Pediatric hepatocellular carcinoma 88673 Disease 210159 Adult hepatocellular carcinoma 88673 Disease 401920 Fibrolamellar hepatocellular carcinoma 424936, 506210 Disease 424943 Adenocarcinoma of the liver and intrahepatic biliary tract 424936 Disease 424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract 424936 Disease 424975 Squamous cell carcinoma of liver and intrahepatic biliary tract 424936 Disease 424982 Biliary cystadenocarcinoma 424936, 506210 Disease 100035 Solitary necrotic nodule of the liver 306636 Disease 566841 Liver adenomatosis 306636, 506210 Disease 90052 Recurrent hepatitis C virus induced liver disease in liver transplant recipients 565779, 57146 Particular clinical situation in a disease or syndrome 90062 Acute liver failure 57146 Clinical syndrome 90073 Hepatitis B reinfection following liver transplantation 565779, 57146 Particular clinical situation in a disease or syndrome 402823 Hepatitis delta 163585, 57146 Disease 97955 Rare respiratory disease Category 3347 Mounier-Kühn syndrome 97955 Clinical syndrome 63999 IgG4-related mediastinitis 596448, 97955 Clinical subtype 71198 Rare pulmonary hypertension 97955 Category 70591 Chronic thromboembolic pulmonary hypertension 71198 Disease 182090 Pulmonary arterial hypertension 506222, 71198 Category 275786 Drug- or toxin-induced pulmonary arterial hypertension 182090 Clinical group 275791 Pulmonary arterial hypertension associated with another disease 182090 Category 275798 Pulmonary arterial hypertension associated with connective tissue disease 275791 Clinical group 275803 Pulmonary arterial hypertension associated with congenital heart disease 275791 Clinical group 97214 Eisenmenger syndrome 275803 Malformation syndrome 275808 Pulmonary arterial hypertension associated with HIV infection 275791 Clinical group 275813 Pulmonary arterial hypertension associated with portal hypertension 275791 Clinical group 275823 Pulmonary arterial hypertension associated with schistosomiasis 275791 Clinical group 275828 Pulmonary arterial hypertension associated with chronic hemolytic anemia 275791 Clinical group 275837 Pulmonary hypertension owing to lung disease and/or hypoxia 71198 Clinical group 275844 Pulmonary hypertension with unclear multifactorial mechanism 71198 Clinical group 275853 Syndrome with pulmonary hypertension as a major feature 71198 Category 97957 Respiratory or thoracic malformation 97955 Category 182108 Thoracic malformation 97957 Category 2017 Sternal cleft 180776, 182108 Morphological anomaly 2391 Congenitally short costocoracoid ligament 182108 Malformation syndrome 3181 Sprengel deformity 182108 Morphological anomaly 182111 Respiratory malformation 97957 Category 98060 Rare respiratory tumor 97955, 98057 Category 466962 SMARCA4-deficient sarcoma of thorax 3394, 98060 Disease 150 Nasopharyngeal carcinoma 289651, 98060, 98061 Disease 101945 Rare bronchopulmonary and pleural cavity tumors 98060 Category 617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia 101945 Disease 2420 Primary pulmonary lymphoma 101945, 279911 Disease 50251 Pleural mesothelioma 101945 Disease 675837 Diffused pleural mesothelioma 50251 Clinical subtype 675833 Localized pleural mesothelioma 50251 Clinical subtype 675841 Pleural mesothelioma in situ 50251 Clinical subtype 64741 Pulmonary blastoma 101945 Disease 64742 Pleuropulmonary blastoma 101945 Disease 99933 Pleuropulmonary blastoma type 1 64742 Clinical subtype 99934 Pleuropulmonary blastoma type 2 64742 Clinical subtype 99935 Pleuropulmonary blastoma type 3 64742 Clinical subtype 284362 Fetal lung interstitial tumor 64742 Clinical subtype 70573 Small cell lung cancer 101945 Disease 97287 Bronchial neuroendocrine tumor 100101, 101945 Disease 284395 Well-differentiated fetal adenocarcinoma of the lung 101945 Disease 675822 Well-differentiated papillary mesothelial tumour of the pleura 101945 Disease 675814 Adenomatoid tumour of the pleura 101945 Disease 101944 Rare pulmonary disease 97955 Category 389 Langerhans cell histiocytosis 101944, 182222, 506210, 98289 Disease 687733 Pulmonary Langerhans cell histiocytosis 389 Clinical subtype 687741 Multisystem Langerhans cell histiocytosis 389 Clinical subtype 687738 Single-system multifocal Langerhans cell histiocytosis 389 Clinical subtype 687730 Unifocal Langerhans cell histiocytosis 389 Clinical subtype 1164 Allergic bronchopulmonary aspergillosis 101944, 98052 Disease 1303 Bronchiolitis obliterans 101944, 506222 Clinical group 658602 Transplant-related bronchiolitis obliterans 1303 Disease 658612 Non-transplant-related bronchiolitis obliterans 1303 Disease 3348 Tracheobronchopathia osteochondroplastica 101944 Disease 36238 Staphylococcal necrotizing pneumonia 101944, 300579 Disease 60026 Pulmonary nodular lymphoid hyperplasia 101944 Disease 60032 Recurrent respiratory papillomatosis 101944, 98036 Disease 70588 Meconium aspiration syndrome 101944 Disease 70590 Infantile apnea 101944 Disease 90060 Diffuse alveolar hemorrhage 101944 Clinical syndrome 140896 Severe acute respiratory syndrome 101944, 163585 Disease 171700 Diffuse panbronchiolitis 101944 Disease 178320 Acute lung injury 101944 Particular clinical situation in a disease or syndrome 182095 Interstitial lung disease 101944, 506222 Category 264656 Interstitial lung disease specific to childhood 182095 Category 264665 Primary interstitial lung disease specific to childhood 264656 Category 264670 Primary interstitial lung disease specific to childhood due to alveolar structure disorder 264665 Category 264683 Primary interstitial lung disease specific to childhood due to alveolar vascular disorder 264665 Category 264688 Congenital chylothorax 264683 Disease 264691 Isolated pulmonary capillaritis 264683 Disease 264694 Interstitial lung disease specific to infancy 264665 Category 91359 Chronic pneumonitis of infancy 264694 Disease 217557 Pulmonary interstitial glycogenosis 264694 Disease 217560 Neuroendocrine cell hyperplasia of infancy 264694 Disease 264699 Secondary interstitial lung disease specific to childhood associated with a systemic disease 264656 Category 264704 Secondary interstitial lung disease specific to childhood associated with a connective tissue disease 264699 Category 92 Juvenile idiopathic arthritis 182231, 264704, 486955 Clinical group 85410 Oligoarticular juvenile idiopathic arthritis 280926, 92 Disease 85414 Systemic-onset juvenile idiopathic arthritis 92 Disease 85436 Psoriasis-related juvenile idiopathic arthritis 92 Disease 85438 Enthesitis-related juvenile idiopathic arthritis 280926, 92 Disease 91140 Unspecified juvenile idiopathic arthritis 92 Disease 404580 Polyarticular juvenile idiopathic arthritis 92 Clinical group 85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis 280926, 404580 Disease 85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis 404580 Disease 264709 Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis 264699 Category 761 Immunoglobulin A vasculitis 156149, 264709, 280369, 567560 Disease 264714 Secondary interstitial lung disease specific to childhood associated with a granulomatous disease 264699 Category 264719 Secondary interstitial lung disease specific to childhood associated with a metabolic disease 264699 Category 264735 Interstitial lung disease specific to adulthood 182095 Category 264740 Primary interstitial lung disease specific to adulthood 264735 Category 747 Autoimmune pulmonary alveolar proteinosis 264740 Disease 70578 Adult acute respiratory distress syndrome 264740 Disease 98300 Idiopathic interstitial pneumonia 264740 Clinical group 2032 Idiopathic pulmonary fibrosis 98300 Disease 1302 Cryptogenic organizing pneumonia 98300 Disease 79126 Acute interstitial pneumonia 98300 Disease 79127 Respiratory bronchiolitis-interstitial lung disease syndrome 98300 Disease 79128 Lymphoid interstitial pneumonia 98300 Disease 91364 Non-specific interstitial pneumonia 98300 Disease 98852 Desquamative interstitial pneumonia 98300 Disease 300564 Combined pulmonary fibrosis-emphysema syndrome 98300 Disease 494428 Idiopathic pleuroparenchymal fibroelastosis 98300 Disease 182098 Pneumoconiosis 264740 Clinical group 2302 Asbestos intoxication 182098 Disease 133 Chronic beryllium disease 182098 Disease 264745 Secondary interstitial lung disease specific to adulthood associated with a systemic disease 264735 Category 264757 Interstitial lung disease in childhood and adulthood 182095 Category 264762 Primary interstitial lung disease in childhood and adulthood 264757 Category 99931 Idiopathic pulmonary hemosiderosis 264762 Disease 264930 Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder 264762 Category 264935 Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder 264762 Category 182101 Idiopathic eosinophilic pneumonia 264935 Clinical group 2902 Idiopathic chronic eosinophilic pneumonia 182101, 98052 Disease 724 Idiopathic acute eosinophilic pneumonia 182101 Disease 264944 Secondary interstitial lung disease in childhood and adulthood 264757 Category 99930 Secondary pulmonary hemosiderosis 264944 Disease 264949 Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease 264944 Category 375 Anti-glomerular basement membrane disease 156146, 264949, 567560 Disease 182104 Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease 264949 Category 264968 Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease 264949 Category 264973 Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis 264949 Category 156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis 156146, 264973, 280369 Clinical group 264984 Exposure-related interstitial lung disease 264944 Category 31740 Hypersensitivity pneumonitis 264984, 98052 Disease 686462 Non-fibrotic hypersensitivity pneumonitis 31740 Clinical subtype 686465 Fibrotic hypersensitivity pneumonitis 31740 Clinical subtype 264978 Drug or radiation exposure-related interstitial lung disease 264984 Particular clinical situation in a disease or syndrome 420259 Secondary pulmonary alveolar proteinosis 264944 Disease 99932 Heiner syndrome 264944 Disease 411703 Pulmonary non-tuberculous mycobacterial infection 101944, 163582 Disease 439881 Plastic bronchitis 101944 Particular clinical situation in a disease or syndrome 330012 High altitude pulmonary edema 101944 Particular clinical situation in a disease or syndrome 90066 Pneumonia caused by Pseudomonas aeruginosa infection 101944 Particular clinical situation in a disease or syndrome 576074 Middle East respiratory syndrome 101944, 163585 Disease 449266 Pleural empyema 101944 Particular clinical situation in a disease or syndrome 454836 Avian influenza 101944, 163585 Disease 505395 Ventilator-induced diaphragmatic dysfunction 101944 Particular clinical situation in a disease or syndrome 217080 Pulmonary fungal infections in patients deemed at risk 101944 Particular clinical situation in a disease or syndrome 99981 Apnea of prematurity 101944 Disease 685082 Pediatric acute respiratory distress syndrome 101944 Disease 645814 Primary pulmonary tuberculosis 101944, 3389 Disease 289390 Primary Sjögren disease 101944, 182228 Disease 101433 Rare urogenital disease Category 692256 Isolated anogenital granulomatosis 101433, 180205, 79381 Disease 2795 Fowler urethral sphincter dysfunction syndrome 101433 Disease 37202 Interstitial cystitis 101433 Disease 84085 Hinman syndrome 101433 Disease 182114 Rare urogenital tumor 101433, 98057 Category 98058 Rare urinary tract tumor 182114 Category 695023 Pure squamous carcinoma of the urothelial tract 98058 Disease 695020 Urachal carcinoma 98058 Disease 498228 Phyllodes tumor of the prostate 98058 Disease 598216 Upper tract urothelial carcinoma 98058 Disease 284400 Small cell carcinoma of the bladder 100101, 98058 Disease 363472 Tumor of testis and paratestis 182114, 626609 Category 363478 Paratesticular adenocarcinoma 363472 Disease 363483 Testicular teratoma 363472 Disease 363489 Sex cord-stromal tumor of testis 363472 Disease 363504 Germ cell tumor of testis 363472, 363582 Category 842 Testicular seminomatous germ cell tumor 363504 Disease 99865 Spermatocytic seminoma 363504 Disease 363494 Non-seminomatous germ cell tumor of testis 363504 Disease 685010 Mesothelioma of the tunica vaginalis 363472 Disease 206484 Gonadoblastoma 363472, 398940 Disease 398043 Malignant tumor of penis 182114, 626609 Category 398053 Adenocarcinoma of the penis 398043 Disease 398058 Squamous cell carcinoma of the penis 398043 Disease 140949 Low-flow priapism 101433 Particular clinical situation in a disease or syndrome 97962 Rare surgical thoracic disease Category 97330 Thoracic outlet syndrome 97962 Disease 357107 Arterial thoracic outlet syndrome 97330 Clinical subtype 357131 Venous thoracic outlet syndrome 97330 Clinical subtype 180776 Non-syndromic diaphragmatic or thoracic malformation 97962 Category 180779 Syndromic diaphragmatic or thoracic malformation 97962 Category 89826 Rare skin disease Category 79353 Epidermal disease 89826 Category 79354 Ichthyosis 79353 Category 454 Acquired ichthyosis 79354 Disease 79355 Erythrokeratoderma 79353 Category 79356 Acrokeratoderma 79353 Category 79358 Porokeratosis 79353 Category 79359 Other epidermal disorder 79353 Category 69744 Circumscribed palmoplantar hypokeratosis 79359 Disease 69745 Warty dyskeratoma 79359 Disease 231573 Congenital erosive and vesicular dermatosis 79359 Disease 439196 Zinc-responsive necrolytic acral erythema 79359 Particular clinical situation in a disease or syndrome 498359 Aquagenic palmoplantar keratoderma 79359 Disease 254367 Rare lichen planus 79353 Category 254370 Rare cutaneous lichen planus 254367 Category 505 Graham Little-Piccardi-Lassueur syndrome 254370, 79364 Disease 525 Lichen planopilaris 254370, 79364 Disease 33408 Bullous lichen planus 254370 Disease 254379 Linear lichen planus 254370 Disease 254395 Actinic lichen planus 254370 Disease 254411 Annular atrophic lichen planus 254370 Disease 254424 Annular lichen planus 254370 Disease 254449 Atrophic lichen planus 254370 Disease 254463 Lichen planus pigmentosus 254370 Disease 254478 Lichen planus pemphigoides 254370 Disease 254492 Frontal fibrosing alopecia 254370, 79364 Disease 254373 Rare mucosal lichen planus 254367 Category 83453 Vulvovaginal gingival syndrome 180205, 254373 Disease 79362 Epidermal appendage anomaly 89826 Category 79363 Hair anomaly 79362 Category 79364 Alopecia 79363 Category 129 Pseudopelade of Brocq 79364 Disease 346 Quinquaud folliculitis decalvans 79364 Disease 700 Alopecia totalis 79364 Disease 2221 Acquired hypertrichosis lanuginosa 79365 Disease 79368 Nail anomaly 79362 Category 79144 Isolated congenital onychodysplasia 79369 Disease 79372 Sebaceous gland anomaly 79362 Category 79374 Pigmentation anomaly of the skin 89826 Category 79375 Hyperpigmentation of the skin 79374 Category 39 Acromelanosis 79375 Disease 79376 Hypopigmentation of the skin 79374 Category 79377 Dermis disorder 89826 Category 79378 Dermis elastic tissue disorder 79377 Category 228218 Acquired dermis elastic tissue disorder 79378 Category 228221 Acquired dermis elastic tissue disorder with decreased elastic tissue 228218 Category 228264 Papular elastorrhexis 228221 Disease 228272 Primary anetoderma 228221 Disease 228285 Acquired cutis laxa 228221 Disease 228290 White fibrous papulosis of the neck 228221 Disease 228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis 228221 Disease 228299 Mid-dermal elastolysis 228221 Disease 221142 Confetti-like macular atrophy 228221 Disease 228224 Acquired dermis elastic tissue disorder with increased elastic tissue 228218 Category 79148 Elastosis perforans serpiginosa 228224 Disease 228227 Late-onset focal dermal elastosis 228224 Disease 228236 Linear focal elastosis 228224 Disease 228240 Elastoderma 228224 Disease 228243 Elastofibroma dorsi 228224 Disease 228247 Acquired pseudoxanthoma elasticum 228224 Disease 228254 Elastoma 228224 Disease 79379 Skin vascular disease 79377 Category 529864 Secondary erythromelalgia 496924, 79379 Disease 280065 Calciphylaxis cutis 280062, 79379 Clinical subtype 280774 Generalized essential telangiectasia 79379 Disease 280779 Cutaneous collagenous vasculopathy 79379 Disease 542643 Livedoid vasculopathy 496924, 79379 Clinical syndrome 79380 Mixed dermis disorder 79377 Category 79381 Other dermis disorder 79377 Category 671 Primary cutis verticis gyrata 79381 Clinical group 357220 Primary essential cutis verticis gyrata 671 Disease 137807 Primary cutaneous amyloidosis 79381 Clinical group 49804 Lichen amyloidosis 137807 Disease 137810 Nodular cutaneous amyloidosis 137807 Disease 137814 Macular amyloidosis 137807 Disease 319635 Amyloidosis cutis dyschromia 137807 Disease 402007 Lichen myxedematosus 79381 Clinical group 86795 Localized lichen myxedematosus 402007 Clinical group 90393 Nodular lichen myxedematosus 86795 Disease 90394 Discrete papular lichen myxedematosus 86795 Disease 90395 Papular mucinosis of infancy 86795 Disease 90396 Acral persistent papular mucinosis 86795 Disease 90397 Self-healing papular mucinosis 86795 Disease 86797 Atypical lichen myxedematosus 402007 Disease 90398 Localized lichen myxedematosus with mixed features of different subtypes 86797 Clinical subtype 90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms 86797 Clinical subtype 90400 Scleromyxedema without monoclonal gammopathy 86797 Clinical subtype 167635 Scleromyxedema 402007 Disease 542592 Necrobiosis lipoidica 79381 Disease 658810 Atrophoderma of Pasini and Pierini 79381 Disease 699057 Annular erythema of infancy 79381 Disease 90076 Partial deep dermal and full thickness burns 79381 Particular clinical situation in a disease or syndrome 79382 Subcutaneous tissue disease 89826 Category 345 Dissecting cellulitis of the scalp 79382 Disease 33577 Nodular non-suppurative panniculitis 79382 Disease 36397 Adiposis dolorosa 79382 Disease 90970 Primary lipodystrophy 79382, 97978 Category 98307 Acquired lipodystrophy 90970 Category 79086 Acquired generalized lipodystrophy 181368, 98307 Disease 79087 Acquired partial lipodystrophy 98307 Disease 79088 Localized lipodystrophy 98307 Clinical group 90156 Centrifugal lipodystrophy 79088 Disease 90157 Drug-induced localized lipodystrophy 79088 Disease 90158 Idiopathic localized lipodystrophy 79088 Disease 90159 Panniculitis-induced localized lipodystrophy 79088 Disease 90160 Pressure-induced localized lipoatrophy 79088 Disease 94087 Cytophagic histiocytic panniculitis 79382 Disease 477742 Nodular fasciitis 71209, 79382 Disease 79384 Rare urticaria 89826, 98050 Category 2483 Melkersson-Rosenthal syndrome 79384 Malformation syndrome 64745 Pruritic urticarial papules and plaques of pregnancy 163637, 79384 Disease 79386 Rare skin tumor or hamartoma 89826, 98057 Category 542 Primary cutaneous lymphoma 279911, 79386 Category 171901 Primary cutaneous T-cell lymphoma 171918, 542 Category 178548 Indolent primary cutaneous T-cell lymphoma 171901 Clinical group 541 Primary cutaneous CD30+ T-cell lymphoproliferative disease 178548 Clinical group 98842 Lymphomatoid papulosis 541 Disease 300865 Primary cutaneous anaplastic large cell lymphoma 541 Disease 86884 Subcutaneous panniculitis-like T-cell lymphoma 178548 Disease 178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma 178548 Disease 178566 Mycosis fungoides and variants 178548 Clinical group 2584 Classic mycosis fungoides 178566 Disease 33111 Granulomatous slack skin 178566 Disease 178512 Folliculotropic mycosis fungoides 178566 Disease 178517 Localized pagetoid reticulosis 178566 Disease 178551 Aggressive primary cutaneous T-cell lymphoma 171901 Clinical group 3162 Sézary syndrome 178551 Disease 86875 Adult T-cell leukemia/lymphoma 178551, 289635 Disease 86879 Extranodal nasal NK/T cell lymphoma 178551, 289644 Disease 86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified 178551 Disease 178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma 178551 Disease 178533 Primary cutaneous gamma/delta-positive T-cell lymphoma 178551 Disease 178563 Primary cutaneous B-cell lymphoma 542 Category 178554 Aggressive primary cutaneous B-cell lymphoma 178563, 300846 Clinical group 178544 Primary cutaneous diffuse large B-cell lymphoma, leg type 178554 Disease 178557 Indolent primary cutaneous B-cell lymphoma 178563, 300842 Clinical group 178536 Primary cutaneous marginal zone B-cell lymphoma 178557 Disease 178540 Primary cutaneous follicle center lymphoma 178557 Disease 492 Proliferating trichilemmal cyst 79386 Disease 864 Trichofolliculoma 79386 Disease 2800 Extramammary Paget disease 79386, 98063 Disease 79140 Cutaneous neuroendocrine carcinoma 100101, 289635, 79386 Disease 91414 Pilomatrixoma 79386 Disease 168999 Malignant melanoma of the mucosa 79386 Disease 199257 Superficial fibromatosis 79386 Clinical group 199251 Ledderhose disease 199257 Disease 199260 Calcifying aponeurotic fibroma 199257 Disease 199267 Infantile digital fibromatosis 199257 Disease 263435 Congenital smooth muscle hamartoma 79386 Disease 294057 Rare nevus 79386 Category 2611 Linear verrucous nevus syndrome 294057 Disease 79466 Inflammatory linear verrucous epidermal nevus 2611 Clinical subtype 79467 Verrucous nevus 2611 Clinical subtype 79468 Acanthokeratolytic verrucous nevus 2611 Clinical subtype 139414 Congenital panfollicular nevus 294057 Disease 263425 Nevus of Ota 294057 Disease 263432 Nevus of Ito 294057 Disease 370039 Angora hair nevus 294057 Disease 370046 Didymosis aplasticosebacea 294057 Disease 370052 SCALP syndrome 294057 Disease 370059 NEVADA syndrome 294057 Disease 300515 Rare nail tumor 79386 Category 300504 Onychocytic matricoma 300515 Disease 300512 Onychomatricoma 300515 Disease 411777 Generalized eruptive keratoacanthoma 79386 Disease 499182 Pilomatrix carcinoma 79386 Disease 569164 Angiomatoid fibrous histiocytoma 79386 Disease 79217 Other metabolic disease with skin involvement 79387 Category 79390 Rare photodermatosis 89826 Category 97230 Solar urticaria 79390 Disease 330058 Hydroa vacciniforme 79390 Disease 330061 Actinic prurigo 79390 Disease 330064 Chronic actinic dermatitis 79390 Disease 79391 Immune deficiency with skin involvement 89826 Category 90077 Other acquired skin disease 89826 Category 94059 Uremic pruritus 90077 Particular clinical situation in a disease or syndrome 1221 Cheilitis glandularis 90077 Disease 222 Erosive pustular dermatosis of the scalp 90077 Disease 499 Kerion celsi 90077 Disease 901 Wells syndrome 90077 Disease 33314 Jessner lymphocytic infiltration of the skin 90077 Disease 36237 Bullous impetigo 300579, 90077 Disease 37559 Acquired kinky hair syndrome 90077 Disease 48377 Subcorneal pustular dermatosis 90077 Disease 79099 Interstitial granulomatous dermatitis with arthritis 182231, 90077 Disease 97352 Pellagra 90077 Disease 137617 Nephrogenic systemic fibrosis 90077 Disease 228379 Virus-associated trichodysplasia spinulosa 163585, 90077 Disease 289347 Infective dermatitis associated with HTLV-1 163585, 90077 Disease 352763 Scleredema 90077 Disease 645849 Primary cutaneous tuberculosis 3389, 90077 Disease 664787 Nicolau syndrome 90077 Clinical syndrome 615943 Granuloma faciale 90077 Disease 617408 Classic eosinophilic pustular folliculitis 90077 Disease 451602 Primary cutaneous plasmacytosis 284264, 90077 Disease 451607 Cutaneous pseudolymphoma 284264, 90077 Disease 66646 Cutaneous mastocytosis 90077, 98292 Clinical group 79455 Cutaneous mastocytoma 66646 Disease 79456 Diffuse cutaneous mastocytosis 66646 Disease 280785 Bullous diffuse cutaneous mastocytosis 79456 Clinical subtype 280794 Pseudoxanthomatous diffuse cutaneous mastocytosis 79456 Clinical subtype 79457 Maculopapular cutaneous mastocytosis 66646 Disease 90389 Telangiectasia macularis eruptiva perstans 79457 Clinical subtype 158766 Typical urticaria pigmentosa 79457 Clinical subtype 158769 Plaque-form urticaria pigmentosa 79457 Clinical subtype 158772 Nodular urticaria pigmentosa 79457 Clinical subtype 90000 Erythema elevatum diutinum 156149, 90077 Disease 290836 Systemic disease with skin involvement 89826 Category 801 Scleroderma 290836 Clinical group 90289 Localized scleroderma 801 Disease 157987 Non-Langerhans cell histiocytosis 182222, 290836 Clinical group 158014 Rosaï-Dorfman disease 157987 Disease 35687 Erdheim-Chester disease 157987, 324930 Disease 139436 Multicentric reticulohistiocytosis 157987 Disease 157991 Generalized eruptive histiocytosis 157987 Disease 157997 Benign cephalic histiocytosis 157987 Disease 158000 Juvenile xanthogranuloma 157987 Disease 158003 Xanthoma disseminatum 157987 Disease 158008 Papular xanthoma 157987 Disease 158011 Necrobiotic xanthogranuloma 157987 Disease 158019 Indeterminate cell histiocytosis 157987, 98289 Disease 158022 Progressive nodular histiocytosis 157987 Disease 158025 Hereditary progressive mucinous histiocytosis 157987 Disease 231111 Drug-induced lupus erythematosus 182222, 290836 Disease 290842 Autoinflammatory syndrome with skin involvement 290836 Category 653434 Autoinflammatory syndrome with acne and/or hidradenitis suppurativa 290842, 324927 Clinical group 641385 PASS syndrome 653434 Disease 641390 PsAPASH syndrome 653434 Disease 793 SAPHO syndrome 486955, 653434 Disease 251304 Infantile onset panniculitis with uveitis and systemic granulomatosis 290842, 324930, 324950 Disease 324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis 290842, 324927, 324942 Disease 596753 VEXAS syndrome 156143, 290842, 324936 Disease 293815 Toxic dermatosis 89826 Category 502499 Erythema multiforme major 293815 Disease 95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum 293815, 519288 Disease 537 Toxic epidermal necrolysis 95455 Clinical subtype 36426 Stevens-Johnson syndrome 95455 Clinical subtype 506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome 95455 Clinical subtype 139402 Drug reaction with eosinophilia and systemic symptoms 293815 Disease 293173 Acute generalized exanthematous pustulosis 293815 Disease 293812 Fixed drug eruption 293815 Disease 315350 Autoimmune disease with skin involvement 89826 Category 535 Rare cutaneous lupus erythematosus 315350 Clinical group 163525 Subacute cutaneous lupus erythematosus 535 Disease 163531 Chronic cutaneous lupus erythematosus 535 Clinical group 90281 Discoid lupus erythematosus 163531 Disease 90282 Hypertrophic or verrucous lupus erythematosus 163531 Disease 90283 Lupus erythematosus tumidus 163531 Disease 90285 Lupus erythematosus panniculitis 163531 Disease 79669 Autoimmune bullous skin disease 315350 Clinical group 704 Pemphigus vulgaris 79669 Disease 1656 Dermatitis herpetiformis 79669 Disease 703 Bullous pemphigoid 79669 Disease 46485 Superficial pemphigus 79669 Clinical group 636955 Endemic pemphigus foliaceus 46485 Disease 79480 Pemphigus erythematosus 46485 Disease 79481 Pemphigus foliaceus 46485 Disease 208524 Herpetiform pemphigus 46485 Disease 46487 Epidermolysis bullosa acquisita 79669 Disease 46488 Linear IgA dermatosis 79669 Disease 63275 Pemphigoid gestationis 79669 Disease 63455 Paraneoplastic pemphigus 79669 Disease 555905 IgA pemphigus 79669 Disease 454710 Anti-p200 pemphigoid 79669 Disease 79479 Pemphigus vegetans 79669 Disease 324636 Autoerythrocyte sensitization syndrome 315350 Disease 658584 Rowell syndrome 182231, 315350 Disease 93626 Rare renal disease Category 93548 Glomerular disease 506213, 93626 Category 34145 Immunoglobulin A nephropathy 93548 Disease 567544 Idiopathic non-lupus full-house nephropathy 93548 Clinical syndrome 567554 Systemic disease with glomerulopathy as a major feature 93548 Category 567558 Non-genetic systemic disease with glomerulopathy as a major feature 567554 Category 439232 AApoAIV amyloidosis 567558, 69 Disease 567560 Systemic vasculitis associated with glomerulopathy 567558 Category 536 Systemic lupus erythematosus 182228, 567560, 93573 Disease 728 Relapsing polychondritis 182228, 567560, 98641 Disease 397 Giant cell arteritis 156140, 567560 Disease 36258 Buerger disease 156143, 567560 Disease 3287 Takayasu arteritis 156140, 280369, 567560 Disease 93126 Pauci-immune glomerulonephritis 567560 Disease 97563 Pauci-immune glomerulonephritis with ANCA 93126 Clinical subtype 97564 Pauci-immune glomerulonephritis without ANCA 93126 Clinical subtype 442582 AH amyloidosis 567558, 69 Disease 86861 Non-amyloid monoclonal immunoglobulin deposition disease 567558, 98282 Disease 93556 Heavy chain deposition disease 86861 Clinical subtype 93557 Light and heavy chain deposition disease 86861 Clinical subtype 93558 Light chain deposition disease 86861 Clinical subtype 449395 IgG4-related kidney disease 567558, 596448 Clinical subtype 829 Adult-onset Still disease 182231, 567558 Disease 567564 Nephrotic syndrome without extrarenal manifestations 93548 Category 357502 Idiopathic nephrotic syndrome 567564 Clinical group 567548 Idiopathic steroid-resistant nephrotic syndrome 357502 Clinical syndrome 567552 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy 567548 Clinical subtype 567550 Idiopathic multidrug-resistant nephrotic syndrome 567548 Clinical subtype 567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance 357502 Clinical syndrome 69061 Idiopathic steroid-sensitive nephrotic syndrome 357502 Clinical syndrome 84087 Collagen type III glomerulopathy 93548 Disease 91137 Immunotactoid or fibrillary glomerulopathy 93548 Clinical group 97566 Non-amyloid fibrillary glomerulopathy 91137 Disease 97567 Immunotactoid glomerulopathy 91137 Disease 97560 Primary membranous glomerulonephritis 93548 Disease 93573 Thrombotic microangiopathy 93626 Clinical group 54057 Thrombotic thrombocytopenic purpura 248368, 506213, 93573 Disease 93585 Immune-mediated thrombotic thrombocytopenic purpura 54057 Clinical subtype 544458 Hemolytic uremic syndrome 506213, 93573 Clinical group 544482 Infection-related hemolytic uremic syndrome 182047, 544458 Disease 90038 Shiga toxin-associated hemolytic uremic syndrome 544482 Clinical subtype 544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome 544482 Clinical subtype 244275 De novo thrombotic microangiopathy after kidney transplantation 565779, 93573 Particular clinical situation in a disease or syndrome 93603 Rare renal tubular disease 93626 Category 91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome 506213, 93603 Disease 91500 Tubulointerstitial nephritis and uveitis syndrome 280926, 93603 Disease 444916 Pseudohypoaldosteronism 93603 Clinical group 93164 Transient pseudohypoaldosteronism 444916 Disease 93618 Rare cause of hypertension 93626 Category 688649 Isolated adrenal medullary hyperplasia 101954, 93618 Disease 93619 Rare renal tumor 93626, 98057 Category 464359 Benign metanephric tumor 93619 Disease 2665 Congenital mesoblastic nephroma 506213, 93619 Disease 97366 Multiloculated renal cyst 506213, 93619 Morphological anomaly 217071 Renal cell carcinoma 506213, 93619 Clinical group 247203 Collecting duct carcinoma 217071 Disease 319276 Clear cell renal carcinoma 217071 Disease 319287 Multilocular cystic renal neoplasm of low malignant potential 319276 Histopathological subtype 404511 Clear cell papillary renal cell carcinoma 319276 Histopathological subtype 319298 Papillary renal cell carcinoma 217071 Disease 319303 Chromophobe renal cell carcinoma 217071 Disease 319308 MiT family translocation renal cell carcinoma 217071 Disease 319319 Renal medullary carcinoma 217071 Disease 319322 Mucinous tubular and spindle cell renal carcinoma 217071 Disease 319325 Tubulocystic renal cell carcinoma 217071 Disease 404514 Acquired cystic disease-associated renal cell carcinoma 217071 Disease 268316 Complication in hemodialysis 93626 Particular clinical situation in a disease or syndrome 664912 Neonatal renal venous thrombosis 93626 Disease 97966 Rare ophthalmic disorder Category 101950 Rare eye tumor 97966, 98057 Category 658590 Eyelid sebaceous carcinoma 101950 Disease 659744 Ocular surface squamous neoplasia 101950 Disease 716204 Rare neoplastic choroidal disorder 101950, 519309 Category 716207 Rare benign neoplastic choroidal disorder 716204 Category 674965 Choroidal osteoma 716207 Disease 716210 Rare malignant neoplastic choroidal disorder 716204 Category 714046 Primary choroidal lymphoma 716210 Disease 39044 Uveal melanoma 716210 Disease 716198 Rare paraneoplastic choroidal disorder 101950, 519309 Category 674968 Bilateral diffuse uveal melanocytic proliferation disease 716198 Disease 790 Retinoblastoma 101950 Disease 357034 Non-hereditary retinoblastoma 790 Clinical subtype 52994 Orbital leiomyoma 101950 Disease 268139 Intraocular medulloepithelioma 101950 Disease 440727 Combined hamartoma of the retina and retinal pigment epithelium 101950, 716432 Disease 617910 Conjunctival malignant melanoma 101950 Disease 520814 Rare disorder of the visual organs 97966 Category 140653 Neuro-ophthalmological disease 520814 Category 519349 Rare ophthalmic disorder with cranial nerve involvement 140653 Category 519351 Rare optic nerve disorder 519349 Category 499047 Autoimmune/inflammatory optic neuropathy 519351 Clinical group 499103 Recurrent idiopathic neuroretinitis 499047 Disease 499107 Idiopathic optic perineuritis 499047 Disease 674947 Diffuse unilateral subacute neuroretinitis 163588, 519351, 716410 Disease 519355 Rare ocular motility/alignment disorder 140653 Category 519347 Rare neuromuscular disorder with ocular motility/alignment anomaly 519355 Category 98681 Rare disorder with strabismus 519355 Category 98683 Syndromic disorder with strabismus 98681 Category 519343 Rare ophthalmic disorder with cortical involvement 140653 Category 420556 Visual snow syndrome 519343 Disease 519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature 140653 Category 279882 Spasmus nutans 519341 Clinical syndrome 519298 Rare scleral disorder 520814 Category 648559 Rare scleritis 519298 Clinical group 648681 Immune-mediated scleritis 648559 Disease 648675 Idiopathic scleritis 648559 Disease 648665 Infectious scleritis 648559 Disease 98715 Uveitis 520814 Category 279914 Intermediate uveitis 98715 Disease 280886 Anterior uveitis 98715 Category 280914 Isolated idiopathic anterior uveitis 280886 Disease 279922 Infectious anterior uveitis 280886 Disease 280926 Systemic diseases with anterior uveitis 280886 Category 306648 Non-infectious anterior uveitis 280886 Category 79098 Sympathetic ophthalmia 306648 Disease 209959 Phacoanaphylactic uveitis 306648 Disease 263479 Fuchs heterochromic iridocyclitis 306648 Disease 280892 Posterior uveitis 98715 Category 90061 Non-infectious posterior uveitis 280892 Category 179 Birdshot chorioretinopathy 716195, 90061 Disease 35686 Serpiginous choroiditis 716195, 716348, 90061 Disease 279928 Paraneoplastic uveitis 90061 Disease 280917 Idiopathic posterior uveitis 90061 Disease 580951 Punctate inner choroidopathy 716195, 90061 Disease 279919 Infectious posterior uveitis 280892 Disease 280930 Systemic diseases with posterior uveitis 280892 Category 280898 Panuveitis 98715 Category 279925 Infectious panuveitis 280898 Disease 280921 Idiopathic panuveitis 280898 Disease 280933 Systemic diseases with panuveitis 280898 Category 519311 Rare disorder of the posterior segment of the eye 520814 Category 519309 Rare choroidal disorder 519311 Category 716195 Rare inflammatory choroidal disorder 519309 Category 714154 Idiopathic multifocal choroiditis 716195 Disease 714164 Acute posterior multifocal placoid pigment epitheliopathy 716195 Disease 716201 Rare vascular choroidal disorder 519309 Category 519315 Rare retinal disorder 519311 Category 716290 Rare predominantly chorioretinal disorder 519315 Category 716293 Rare non-progressive predominantly chorioretinal disorder 716290 Category 716296 Rare isolated non-progressive predominantly chorioretinal disorder 716293 Category 674953 Multiple evanescent white dot syndrome 716296 Disease 715862 Melanocytoma of the optic disc and optic nerve 716296 Disease 716304 Rare progressive predominantly chorioretinal disorder 716290 Category 716348 Rare isolated progressive predominantly chorioretinal disorder 716304 Category 165958 Cavitary myiasis 716348, 75110 Disease 443079 Central serous chorioretinopathy 716348 Disease 716358 Rare generalized retinal disorder 519315 Category 716361 Rare progressive generalized retinal disorder 716358 Category 716410 Rare isolated progressive generalized retinal disorder 716361 Category 284454 Acute zonal occult outer retinopathy 716410 Disease 714109 Ocular siderosis 716410 Disease 695631 Primary vitreoretinal large B-cell lymphoma 716410 Disease 519317 Rare retinal vasculopathy 519315 Category 716450 Rare non-progressive retinal vasculopathy 519317 Category 648684 Central retinal artery occlusion 716450 Disease 411527 Central retinal vein occlusion 716450 Particular clinical situation in a disease or syndrome 674930 Perifoveal exudative vascular anomalous complex 716450 Disease 674924 Isolated retinal racemose hemangioma 716450 Disease 716455 Rare progressive retinal vasculopathy 519317 Category 716466 Rare isolated progressive retinal vasculopathy 716455 Category 716459 Rare disorder with progressive retinal vasculopathy as a major feature 716455 Category 90050 Retinopathy of prematurity 716459 Disease 40923 Eales disease 716459 Disease 519313 Rare macular disorder 519315 Category 716413 Rare non-progressive predominantly macular disorder 519313 Category 716419 Rare isolated non-progressive predominantly macular disorder 716413 Category 714101 Acute idiopathic maculopathy 716419 Disease 488239 Acute macular neuroretinopathy 716419 Disease 674935 Torpedo Maculopathy 716419 Disease 716416 Rare progressive predominantly macular disorder 519313 Category 716432 Rare isolated progressive predominantly macular disorder 716416 Category 284460 Acute annular outer retinopathy 716432 Disease 97341 Persistent placoid maculopathy 716432 Disease 279894 Toxic maculopathy due to antimalarial drugs 716432 Disease 715855 Acute exudative polymorphous vitelliform maculopathy 716432 Disease 715845 Idiopathic Acute exudative polymorphous vitelliform maculopathy 715855 Clinical subtype 715850 Paraneoplastic acute exudative polymorphous vitelliform maculopathy 715855 Clinical subtype 2737 Onchocerciasis 2034, 716432 Disease 714150 Stellate non-hereditary idiopathic foveomacular retinoschisis 716432 Disease 519329 Rare disorder involving multiple structures of the eye 520814 Category 199323 Endophthalmitis 519329 Disease 279888 Acute endophthalmitis 199323 Clinical subtype 279891 Chronic endophthalmitis 199323 Clinical subtype 449563 IgG4-related ophthalmic disease 519329, 596448 Clinical subtype 523000 Pediatric-onset glaucoma 519329 Category 519331 Secondary early-onset glaucoma 523000 Category 636950 Glaucomatocyclitic crisis disease 519329 Disease 90080 Scarring in glaucoma filtration surgical procedures 519329 Particular clinical situation in a disease or syndrome 519266 Rare disorder of the ocular adnexa 520814 Category 98602 Rare disorder of the lacrimal apparatus 519266 Category 519264 Inflammatory/autoimmune disorder involving the lacrimal system 98602 Category 79078 IgG4-related dacryoadenitis and sialadenitis 519264, 596448, 98036 Clinical subtype 519284 Rare disorder of the anterior segment of the eye 520814 Category 98610 Rare disorder with conjunctival involvement as a major feature 519284 Category 99922 Ocular cicatricial pemphigoid 98610 Disease 519280 Rare conjunctivitis 98610 Category 1482 Gonococcal conjunctivitis 519280 Disease 70476 Vernal keratoconjunctivitis 519280, 98623 Disease 88633 Superior limbic keratoconjunctivitis 519280 Disease 163934 Atopic keratoconjunctivitis 519280 Disease 2989 Familial pterygium of the conjunctiva 98610 Morphological anomaly 519282 Rare corneal disorder 519284 Category 171673 Limbal stem cell deficiency 519282 Disease 519288 Rare disorder with corneal involvement as a major feature 519282 Category 34533 Corneal dystrophy 519288 Category 98625 Superficial corneal dystrophy 34533 Category 98958 Climatic droplet keratopathy 98625 Disease 98623 Syndromic keratoconus 519288 Category 519290 Rare inflammatory/autoimmune corneal disorder 519288 Category 314017 Idiopathic linear interstitial keratitis 519290 Disease 1467 Cogan syndrome 156140, 280369, 519290, 98036 Disease 519278 Infective keratitis 519290 Category 137593 Infectious epithelial keratitis 519278 Disease 67043 Amoebic keratitis 163588, 519278 Disease 519930 Fungal keratitis 519278 Disease 137599 Herpes simplex virus stromal keratitis 519278 Disease 137602 Corneal endotheliitis 519278 Disease 137596 Neurotrophic keratopathy 519278 Disease 519406 Thygeson superficial punctate keratitis 519290 Disease 519408 Mooren ulcer 519288 Disease 137672 Pellucid marginal degeneration 519288 Disease 519410 Terrien marginal degeneration 519288 Disease 98639 Rare lens disease 519284 Category 98640 Rare disorder with lens opacification 98639 Category 98641 Syndromic cataract 98640 Category 519286 Rare disorder of the pupil 519284 Category 454718 Holmes-Adie syndrome 519286 Disease 97978 Rare endocrine disease Category 877 Neuroendocrine neoplasm 182130, 97978 Category 100093 Carcinoid syndrome 877 Clinical syndrome 100092 Gastroenteropancreatic neuroendocrine neoplasm 877 Category 481508 Gastroenteric neuroendocrine neoplasm 100092 Category 100101 Neuroendocrine tumor with other location 877 Category 100083 Laryngeal neuroendocrine tumor 100101, 98061 Disease 100084 Middle ear neuroendocrine tumor 100101, 98061 Disease 213731 High-grade neuroendocrine carcinoma of the corpus uteri 100101, 213569 Disease 97289 Thymic neuroendocrine tumor 100100, 100101 Disease 213777 High-grade neuroendocrine carcinoma of the cervix uteri 100101, 213761 Disease 99869 Thymic neuroendocrine carcinoma 100101, 3398 Disease 263331 Well-differentiated thymic neuroendocrine carcinoma 99869 Histopathological subtype 263335 Moderately-differentiated thymic neuroendocrine carcinoma 99869 Histopathological subtype 263339 Poorly differentiated thymic neuroendocrine carcinoma 99869 Histopathological subtype 68415 Rare parathyroid disease and phosphocalcic metabolism anomaly 97978 Category 100090 Rare parathyroid tumor 182130, 68415 Category 143 Parathyroid carcinoma 100090, 181408 Disease 181405 Rare hypoparathyroidism 68415 Category 36913 Autoimmune hypoparathyroidism 181405 Disease 140286 Secondary hypoparathyroidism due to impaired parathormon secretion 181405 Disease 181408 Rare hyperparathyroidism 68415 Category 300493 Sagliker syndrome 181408, 93419 Particular clinical situation in a disease or syndrome 90692 Rare endocrine growth disease 97978 Category 178045 Transient congenital hypothyroidism 442 Clinical group 238696 Transient congenital hypothyroidism due to maternal factor 178045 Category 95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies 238696 Disease 226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs 238696 Disease 238699 Transient congenital hypothyroidism due to neonatal factor 178045 Category 238688 Neonatal iodine exposure 238699 Disease 95708 Rare precocious puberty 90692 Category 650063 Rare central precocious puberty 95708 Clinical group 649929 Central precocious puberty in male 650063 Clinical group 650087 Primary central precocious puberty in male 649929 Disease 650102 Non-genetic central precocious puberty in male 650087 Clinical subtype 650092 Secondary central precocious puberty in male 649929 Disease 650070 Rare central precocious puberty in female 435561, 650063 Clinical group 650082 Secondary central precocious puberty in female 650070 Disease 95710 Rare non-acquired premature ovarian failure 180208, 90692 Category 101952 Rare diabetes mellitus 97978 Category 181371 Rare diabetes mellitus type 1 101952 Category 227982 Autoimmune polyendocrinopathy type 3 177101, 181371, 282196 Disease 181376 Rare diabetes mellitus type 2 101952 Category 181381 Other rare diabetes mellitus 101952 Category 101954 Rare adrenal disease 97978 Category 641613 Endogenous Cushing syndrome 101954 Category 647758 Adrenal Cushing syndrome 641613 Clinical group 314749 Rare disease with adrenal Cushing syndrome as a major feature 647758 Category 1501 Adrenocortical carcinoma 100091, 314749 Disease 647768 Rare adrenocortical nodular disease with Cushing syndrome as a major feature 314749 Clinical group 647772 Isolated primary pigmented nodular adrenocortical disease 647768, 649017 Disease 647782 Isolated micronodular adrenocortical disease 647768, 649017 Disease 642788 Cushing syndrome due to cortisol-producing adrenocortical adenoma 647758 Disease 99892 ACTH-dependent Cushing syndrome 399584, 399849, 641613 Clinical group 96253 Cushing disease 314753, 715120, 99892 Disease 100091 Adrenal/paraganglial tumor 101954, 182130 Category 649017 Rare adrenocortical nodular disease 100091 Clinical group 573163 Pheochromocytoma-paraganglioma 100091 Clinical group 276621 Sporadic pheochromocytoma/secreting paraganglioma 573163 Disease 94080 Non-functioning paraganglioma 573163 Disease 91351 Pituitary dermoid and epidermoid cysts 100091, 95503 Disease 101958 Primary adrenal insufficiency 101954 Category 95409 Acute adrenal insufficiency 101958 Clinical syndrome 100067 Waterhouse-Friderichsen syndrome 95409 Clinical subtype 319205 Bilateral massive adrenal hemorrhage 95409 Etiological subtype 101959 Chronic primary adrenal insufficiency 101958 Category 101963 Acquired chronic primary adrenal insufficiency 101959 Category 85138 Addison disease 101963 Disease 181415 Rare primary hyperaldosteronism 101954 Category 231637 Rare surgically correctable form of primary aldosteronism 181415 Category 231580 Primary unilateral adrenal hyperplasia 231637 Disease 231625 Adrenocortical carcinoma with pure aldosterone hypersecretion 231637 Disease 231641 Rare non surgically correctable form of primary aldosteronism 181415 Category 231632 Ectopic aldosterone-producing tumor 231641 Disease 181419 Rare hypoaldosteronism 101954 Category 101955 Rare thyroid disease 97978 Category 95718 Congenital thyroid malformation without hypothyroidism 101955 Category 100087 Rare thyroid tumor 101955, 182130 Category 100088 Rare thyroid carcinoma 100087 Category 146 Differentiated thyroid carcinoma 100088 Disease 142 Anaplastic thyroid carcinoma 100088 Disease 1332 Medullary thyroid carcinoma 100088 Disease 97285 Thyroid lymphoma 100087, 279911 Disease 177101 Rare adult hypothyroidism 181396 Category 64744 IgG4-related thyroid disease 177101, 596448 Clinical subtype 525731 Pediatric-onset Graves disease 181399 Disease 101956 Polyendocrinopathy 97978 Category 282196 Autoimmune polyendocrinopathy 101956 Clinical group 227990 Autoimmune polyendocrinopathy type 4 282196 Disease 181384 Rare hypothalamic or pituitary disease 97978 Category 1672 Diencephalic syndrome 181384 Disease 95502 Acquired pituitary hormone deficiency 101957 Category 95503 Pituitary hormone deficiency of tumoral origin 95502 Category 91350 Pituitary deficiency due to Rathke cleft cysts 95503 Disease 99408 Pituitary adenoma 304055, 95503 Clinical group 91349 Non-functioning pituitary adenoma 99408 Disease 314786 Silent pituitary adenoma 91349 Histopathological subtype 314790 Null pituitary adenoma 91349 Histopathological subtype 314753 Functioning pituitary adenoma 99408 Clinical group 2965 Prolactinoma 314753, 399572, 399831, 715120 Disease 91347 TSH-secreting pituitary adenoma 314753, 715120 Disease 91348 Functioning gonadotropic adenoma 314753, 715120 Disease 96256 Somatotropic adenoma 314753 Clinical group 963 Acromegaly 399831, 715120, 96256 Disease 99725 Pituitary gigantism 715120, 96256 Disease 199244 Nelson syndrome 314753, 715120 Clinical syndrome 314759 Mixed functioning pituitary adenoma 314753 Category 314769 Somatomammotropinoma 314759, 715120 Disease 314777 Familial isolated pituitary adenoma 715120, 99408 Disease 95505 Pituitary hormone deficiency of meningeal origin 95502 Category 91354 Pituitary deficiency due to empty sella turcica syndrome 95505 Disease 95506 Primary hypophysitis 95502 Clinical group 95512 Adenohypophysitis 95506 Disease 95513 Panhypophysitis 95506 Disease 238305 Infundibulo-neurohypophysitis 95506 Disease 95611 Pituitary hormone deficiency of vascular origin 95502 Category 91355 Sheehan syndrome 95611 Malformation syndrome 95613 Pituitary apoplexy 95502 Disease 95617 Pituitary hormone deficiency secondary to a granulomatous disease 95502 Category 645854 Multifocal tuberculosis 3389, 95617 Disease 95618 Pituitary hormone deficiency secondary to storage disease 95502 Category 95619 Post-traumatic pituitary deficiency 95502 Disease 199299 Late-onset isolated ACTH deficiency 95502 Disease 641350 Immunotherapy induced hypophysitis 95502 Disease 178029 Arginine vasopressin deficiency 101957 Disease 95626 Acquired arginine vasopressin deficiency 178029 Clinical subtype 689401 Acquired hypothalamic obesity 181384 Disease 715120 Hyperpituitarism 181384 Category 443095 Hyperinsulinemic hypoglycaemia 97978 Category 411593 Insulin autoimmune syndrome 443095 Disease 97992 Rare hematologic disease Category 68347 Tumor of hematopoietic and lymphoid tissues 97992, 98057 Category 98292 Mastocytosis 68347 Category 2467 Systemic mastocytosis 98292 Clinical group 98848 Indolent systemic mastocytosis 2467 Disease 98849 Systemic mastocytosis with associated hematologic neoplasm 2467 Disease 98850 Aggressive systemic mastocytosis 2467 Disease 98851 Mast cell leukemia 2467 Disease 566393 Acute mast cell leukemia 98851 Clinical subtype 566396 Chronic mast cell leukemia 98851 Clinical subtype 158775 Smoldering systemic mastocytosis 2467 Disease 158778 Isolated bone marrow mastocytosis 2467 Disease 66661 Mast cell sarcoma 98292 Disease 66662 Extracutaneous mastocytoma 98292 Disease 171895 Myeloid hemopathy 506219, 68347 Category 519 Acute myeloid leukemia 171895 Clinical group 86845 Acute myeloid leukaemia with myelodysplasia-related features 519 Disease 86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome 519 Category 102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent 86846 Disease 102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor 86846 Disease 164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation 521132, 86846 Disease 86851 Acute leukemia of ambiguous lineage 519 Category 530995 Mixed phenotype acute leukemia 86851 Disease 589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2) 530995 Etiological subtype 589595 Mixed phenotype acute leukemia with t(v;11q23.3) 530995 Etiological subtype 98835 Acute undifferentiated leukemia 86851 Disease 98277 Acute myeloid leukemia with recurrent genetic anomaly 519 Category 520 Acute promyelocytic leukemia 98277 Disease 98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22) 98277 Disease 98831 Acute myeloid leukemia with 11q23 abnormalities 98277 Disease 102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation 98277 Disease 370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation 98277 Disease 402014 Acute myeloid leukemia with t(6;9)(p23;q34) 98277 Disease 402017 Acute myeloid leukemia with t(9;11)(p22;q23) 98277 Disease 402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2) 98277 Disease 402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13) 98277 Disease 402026 Acute myeloid leukemia with NPM1 somatic mutations 98277 Disease 585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2) 98277 Disease 167714 Unclassified acute myeloid leukemia 519 Category 318 Acute erythroid leukemia 167714 Disease 518 Acute megakaryoblastic leukemia 167714 Disease 99887 Acute megakaryoblastic leukemia in children with Down syndrome 518 Clinical subtype 329469 Acute megakaryoblastic leukemia in children without Down syndrome 518 Clinical subtype 662934 Acute megakaryoblastic leukemia in adult 518 Clinical subtype 86843 Acute panmyelosis with myelofibrosis 167714 Disease 86849 Acute basophilic leukemia 167714 Disease 86850 Myeloid sarcoma 167714 Disease 98832 Acute myeloid leukemia with minimal differentiation 167714 Disease 98833 Acute myeloblastic leukemia without maturation 167714 Disease 98834 Acute myeloblastic leukemia with maturation 167714 Disease 517 Acute myelomonocytic leukemia 167714 Disease 514 Acute monoblastic/monocytic leukemia 167714 Disease 52688 Myelodysplastic syndrome 171895 Clinical group 75564 Acquired idiopathic sideroblastic anemia 1047, 52688 Disease 86836 Refractory cytopenia with multilineage dysplasia 52688 Clinical group 98826 Myelodysplastic neoplasm with low blasts 86836 Disease 98827 Unclassified myelodysplastic syndrome 86836 Disease 86839 Myelodysplastic neoplasm with increased blasts 52688 Disease 100019 Myelodysplastic neoplasm with increased blasts type 1 86839 Clinical subtype 100020 Myelodysplastic neoplasm with increased blasts type 2 86839 Clinical subtype 86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality 52688 Disease 168960 Refractory anemia with excess blasts in transformation 52688 Disease 495930 Familial monosomy 7 syndrome 52688 Disease 98274 Myeloproliferative neoplasm 171895 Clinical group 3318 Essential thrombocythemia 248404, 98274 Disease 521 Chronic myeloid leukemia 98274 Disease 824 Primary myelofibrosis 164823, 98274 Disease 729 Polycythemia vera 98274, 98427 Disease 86829 Chronic neutrophilic leukemia 98274 Disease 86830 Chronic myeloproliferative disease, unclassifiable 98274 Disease 168940 Chronic eosinophilic leukemia 98274 Disease 420611 Transient myeloproliferative syndrome 98274 Disease 98275 Myelodysplastic/myeloproliferative disease 171895 Clinical group 86834 Juvenile myelomonocytic leukemia 98275 Disease 98823 Chronic myelomonocytic leukemia 98275 Disease 98824 Atypical chronic myeloid leukemia 98275 Disease 98825 Unclassified myelodysplastic/myeloproliferative disease 98275 Disease 168943 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2 171895 Category 168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement 168943 Disease 168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement 168943 Disease 168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement 168943 Disease 589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement 168943 Disease 171898 Lymphoid hemopathy 506219, 68347 Category 98282 Plasma cell tumor 171898 Category 86864 Heavy chain disease 98282 Disease 100024 Mu-heavy chain disease 86864 Clinical subtype 100025 Alpha-heavy chain disease 86864 Clinical subtype 100026 Gamma-heavy chain disease 86864 Clinical subtype 454714 Plasma cell leukemia 98282 Disease 98287 Histiocytic and dendritic cell tumor 171898 Category 98288 Macrophage or histiocytic tumor 98287 Category 86896 Histiocytic sarcoma 98288 Disease 98289 Dendritic cell tumor 98287 Category 86897 Langerhans cell sarcoma 98289 Disease 86900 Interdigitating dendritic cell sarcoma 98289 Disease 86903 Dendritic cell sarcoma not otherwise specified 98289 Disease 98290 Immunodeficiency-associated lymphoproliferative disease 171898 Category 70568 Post-transplant lymphoproliferative disease 171918, 289644, 98290 Disease 86904 Methotrexate-associated lymphoproliferative disorders 98290 Disease 98291 Lymphoproliferative disease associated with primary immune disease 98290 Category 223735 Lymphoma 171898 Category 547 Non-Hodgkin lymphoma 223735 Category 513 Acute lymphoblastic leukemia 547 Clinical group 99860 Precursor B-cell acute lymphoblastic leukemia 513 Disease 99861 Precursor T-cell acute lymphoblastic leukemia 513 Disease 171915 B-cell non-Hodgkin lymphoma 547 Category 300842 Indolent B-cell non-Hodgkin lymphoma 171915 Category 545 Follicular lymphoma 300842 Disease 58017 Classic hairy cell leukemia 300842 Disease 67038 B-cell chronic lymphocytic leukemia 300842 Disease 300878 Hairy cell leukemia variant 300842 Disease 300912 Marginal zone lymphoma 300842 Clinical group 52417 MALT lymphoma 300912 Disease 86854 Splenic marginal zone lymphoma 300912 Disease 86867 Nodal marginal zone B-cell lymphoma 300912 Disease 300869 Splenic diffuse red pulp small B-cell lymphoma 300912 Disease 443159 Lymphoplasmacytic lymphoma without IgM production 300842 Disease 300846 Aggressive B-cell non-Hodgkin lymphoma 171915 Category 543 Burkitt lymphoma 289644, 300846 Disease 544 Diffuse large B-cell lymphoma 300846 Clinical group 86869 Lymphomatoid granulomatosis 289644, 544 Disease 98838 Primary mediastinal large B-cell lymphoma 544 Disease 98839 Intravascular large B-cell lymphoma 544 Disease 289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma 289644, 544 Disease 300849 Diffuse large B-cell lymphoma of the central nervous system 544 Disease 300857 T-cell/histiocyte rich large B cell lymphoma 544 Disease 300888 Diffuse large B-cell lymphoma with chronic inflammation 289644, 544 Disease 364043 ALK-positive large B-cell lymphoma 544 Disease 48686 Primary effusion lymphoma 102024, 289644, 300846 Disease 52416 Mantle cell lymphoma 300846 Disease 86852 B-cell prolymphocytic leukemia 300846 Disease 289666 Plasmablastic lymphoma 289644, 300846 Disease 480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement 300846 Disease 171918 T-cell non-Hodgkin lymphoma 547 Category 86870 Blastic plasmacytoid dendritic cell neoplasm 171918 Disease 86871 T-cell prolymphocytic leukemia 171918 Disease 86882 Hepatosplenic T-cell lymphoma 171918 Disease 86886 Angioimmunoblastic T-cell lymphoma 171918 Disease 98841 Anaplastic large cell lymphoma 171918 Disease 300895 ALK-positive anaplastic large cell lymphoma 98841 Histopathological subtype 300903 ALK-negative anaplastic large cell lymphoma 98841 Histopathological subtype 364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood 171918, 289644 Disease 364039 Hydroa vacciniforme-like lymphoma 171918, 289644 Disease 667662 Breast implant-associated anaplastic large cell lymphoma 171918 Disease 512034 Large granular lymphocyte leukemia 171918 Clinical group 86872 T-cell large granular lymphocyte leukemia 178996, 512034 Disease 86873 Aggressive NK-cell leukemia 512034 Disease 512017 Chronic lymphoproliferative disorder of natural killer cells 512034 Disease 652650 Nodal T-follicular helper cell lymphoma, follicular type 171918 Disease 98293 Hodgkin lymphoma 223735, 289644 Clinical group 391 Classic Hodgkin lymphoma 98293 Disease 98843 Classic Hodgkin lymphoma, nodular sclerosis type 391 Histopathological subtype 98844 Classic Hodgkin lymphoma, mixed cellularity type 391 Histopathological subtype 98845 Classic Hodgkin lymphoma, lymphocyte-rich type 391 Histopathological subtype 98846 Classic Hodgkin lymphoma, lymphocyte-depleted type 391 Histopathological subtype 86893 Nodular lymphocyte predominant Hodgkin lymphoma 98293 Disease 168966 Composite lymphoma 223735 Disease 279911 Primary organ-specific lymphoma 223735 Category 314684 Primary bone lymphoma 279911 Disease 319667 Primary lymphoma of the conjunctiva 279911 Disease 300324 Persistent polyclonal B-cell lymphocytosis 171898 Disease 160 Castleman disease 171898 Disease 93685 Unicentric Castleman disease 160 Clinical subtype 570438 HHV-8-associated multicentric Castleman disease 102024, 160 Clinical subtype 570431 Idiopathic multicentric Castleman disease 160 Clinical subtype 529468 Monoclonal mast cell activation syndrome 68347 Disease 707993 Methemoglobinemia-related cyanosis 97992 Category 464453 Acquired methemoglobinemia 707993 Disease 98427 Polycythemia 97992 Clinical group 238547 Acquired secondary polycythemia 98428 Category 90041 Gaisböck syndrome 238547, 248365 Disease 98429 Rare coagulation disorder 97992 Category 182054 Rare thrombotic disease of hematologic origin 98429 Category 248358 Rare thrombotic disorder due to a coagulation factors defect 182054 Category 248365 Rare thrombotic disorder due to an acquired coagulation factors defect 248358 Category 698914 Platelet-activating anti-platelet factor 4 disorder 182228, 248365 Clinical group 3325 Classic heparin-induced thrombocytopenia 698914 Disease 698945 Autoimmune heparin-induced thrombocytopenia 698914 Disease 699021 Spontaneous heparin-induced thrombocytopenia 698914 Disease 699029 Vaccine-induced immune thrombotic thrombocytopenia 698914 Disease 464343 Catastrophic antiphospholipid syndrome 182228, 248365 Disease 26349 Protein S acquired deficiency 248365 Disease 49566 Acquired purpura fulminans 248365 Disease 80 Antiphospholipid syndrome 163637, 182228, 248365 Disease 248368 Rare thrombotic disorder due to a platelet anomaly 182054 Category 248404 Rare thrombotic disorder due to an acquired platelet anomaly 248368 Category 248308 Rare hemorrhagic disorder 98429 Category 248315 Rare hemorrhagic disorder due to a coagulation factors defect 248308 Category 166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect 248315 Category 26348 Acquired prothrombin deficiency 166775 Disease 99147 Acquired von Willebrand syndrome 166775 Disease 599507 Acquired factor XI deficiency 166775 Disease 599495 Acquired factor VII deficiency 166775 Disease 599501 Acquired factor X deficiency 166775 Disease 599480 Acquired hemophilia A 166775 Disease 599490 Acquired factor V deficiency 166775 Disease 599485 Acquired hemophilia B 166775 Disease 599513 Acquired factor XIII deficiency 166775 Disease 248326 Rare hemorrhagic disorder due to a platelet anomaly 248308 Category 248347 Rare hemorrhagic disorder due to an acquired platelet anomaly 248326 Category 457077 TAFRO syndrome 182222, 248347 Disease 244242 HELLP syndrome 163637, 248347 Disease 853 Fetal and neonatal alloimmune thrombocytopenia 248347 Disease 71203 Autoimmune thrombocytopenia 248347 Clinical group 3002 Immune thrombocytopenia 71203 Disease 1959 Evans syndrome 71203, 98375 Disease 108997 Rare anemia 97992 Category 1047 Sideroblastic anemia 108997 Category 68364 Hemoglobinopathy 108997, 506219 Category 98363 Rare hemolytic anemia 108997 Category 182047 Rare acquired hemolytic anemia 98363 Category 98375 Autoimmune hemolytic anemia 182047 Clinical group 228312 Autoimmune hemolytic anemia, cold type 98375 Clinical group 56425 Cold agglutinin disease 228312 Disease 90035 Paroxysmal cold hemoglobinuria 228312 Disease 90033 Autoimmune hemolytic anemia, warm type 98375 Disease 90036 Mixed-type autoimmune hemolytic anemia 98375 Disease 90037 Drug-induced autoimmune hemolytic anemia 98375 Disease 275938 Hemolytic disease due to fetomaternal alloimmunization 182047 Category 275944 Hemolytic disease of the newborn with Kell alloimmunization 275938 Disease 182040 Rare aplastic anemia 108997, 506219 Category 164823 Rare acquired aplastic anemia 182040 Category 88 Idiopathic aplastic anemia 164823 Disease 98421 Primary acquired red cell aplasia 164823 Clinical group 98871 Transient erythroblastopenia of childhood 98421 Disease 98872 Primary acquired pure red cell aplasia 98421 Disease 248293 Rare deficiency anemia 108997 Category 248302 Rare acquired deficiency anemia 248293 Category 450322 Polyclonal hyperviscosity syndrome 97992 Clinical syndrome 617294 Twin anemia-polycythemia sequence 617310, 97992 Disease 570470 Ricin poisoning 556508, 97992 Disease 98004 Rare immune disease Category 39812 Graft versus host disease 565779, 98004 Disease 99920 Acute graft versus host disease 39812 Clinical subtype 99921 Chronic graft versus host disease 39812 Clinical subtype 95431 Twin to twin transfusion syndrome 617310, 98004 Disease 231205 Common variable immunodeficiency without known genetic defect 696851 Disease 158032 Hemophagocytic syndrome 98004 Category 158041 Secondary hemophagocytic lymphohistiocytosis 158032 Category 158048 Hemophagocytic syndrome associated with an infection 158041 Particular clinical situation in a disease or syndrome 158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease 158041 Particular clinical situation in a disease or syndrome 158061 Macrophage activation syndrome 158041, 182222, 506210 Clinical syndrome 310050 Acquired immunodeficiency 98004 Category 90081 AIDS wasting syndrome 310050 Particular clinical situation in a disease or syndrome 169105 Thymoma-hypogammaglobulinemia syndrome 310050 Disease 178996 Acquired neutropenia 310050 Category 464370 Neonatal alloimmune neutropenia 178996 Disease 2688 Adult idiopathic neutropenia 178996 Disease 47612 Felty syndrome 178996, 182231 Disease 306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies 310050 Disease 98023 Rare systemic or rheumatologic disease Category 658 Non-histaminic angioedema 98023, 98050 Clinical group 91385 Acquired angioedema 658 Clinical group 528663 Acquired angioedema with C1Inh deficiency 91385 Disease 100055 Acquired angioedema type 2 528663 Clinical subtype 100056 Acquired angioedema type 1 528663 Clinical subtype 100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema 91385 Disease 52759 Vasculitis 68362, 98023 Category 156140 Predominantly large-vessel vasculitis 52759 Clinical group 26137 Juvenile temporal arteritis 156140 Disease 228116 Hughes-Stovin syndrome 156140 Disease 156143 Predominantly medium-vessel vasculitis 52759 Clinical group 2331 Kawasaki disease 156143, 280369 Disease 156146 Predominantly small-vessel vasculitis 52759 Clinical group 156149 Immune complex mediated vasculitis 156146 Category 889 Cutaneous small vessel vasculitis 156149 Disease 251328 Unclassified vasculitis 280369, 52759 Disease 445197 Secondary vasculitis 280369, 52759 Category 251325 Drug-induced vasculitis 445197 Disease 182222 Rare systemic disease 98023 Category 90051 Sepsis in premature infants 182222 Particular clinical situation in a disease or syndrome 3099 Rheumatic fever 182222 Disease 69 Amyloidosis 182222 Category 439224 ALECT2 amyloidosis 69 Disease 439246 ABeta2M amyloidosis 69 Clinical group 85446 Wild type ABeta2M amyloidosis 439246 Disease 3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome 182222 Malformation syndrome 2582 Myalgia-eosinophilia syndrome associated with tryptophan 182222, 556508 Malformation syndrome 3096 Reye syndrome 182222 Disease 764 Pyomyositis 163582, 182222 Disease 482 Kimura disease 182222 Disease 188 Systemic capillary leak syndrome 182222 Disease 50918 Kikuchi-Fujimoto disease 182222 Disease 182228 Systemic autoimmune disease 182222 Category 90002 Undifferentiated connective tissue syndrome 182228 Disease 251312 Overlapping connective tissue disease 182228, 280373 Clinical group 284264 IgG4-related disease 182228 Clinical group 449566 Eosinophilic angiocentric fibrosis 284264, 98036 Disease 596448 IgG4-related systemic disease 284264 Disease 449432 IgG4-related submandibular gland disease 596448, 98036 Clinical subtype 398091 Secondary neonatal autoimmune disease 182228, 280373 Category 398097 Neonatal antiphospholipid syndrome 398091 Disease 398109 Neonatal autoimmune hemolytic anemia 398091 Disease 398117 Neonatal dermatomyositis 398091 Disease 398124 Neonatal lupus erythematosus 398091 Disease 398127 Neonatal scleroderma 398091 Disease 251332 Unexplained long-lasting fever/inflammatory syndrome 182222, 280373 Disease 280062 Calciphylaxis 182222, 496924 Disease 280068 Visceral calciphylaxis 280062 Clinical subtype 284227 TEMPI syndrome 182222 Clinical syndrome 279947 Postorgasmic illness syndrome 182222 Clinical syndrome 542323 CAR T cell therapy-associated cytokine release syndrome 182222 Particular clinical situation in a disease or syndrome 598363 Multisystem inflammatory syndrome in children and adults 182222, 280373 Disease 182231 Rare rheumatologic disease 98023 Category 29207 Reactive arthritis 182231, 486955 Disease 93665 Autoinflammatory syndrome 182231 Category 101995 Periodic fever syndrome 93665 Category 102237 Unexplained periodic fever syndrome 101995 Category 37748 Schnitzler syndrome 102237 Malformation syndrome 42642 PFAPA syndrome 102237, 324960 Disease 324927 Pyogenic autoinflammatory syndrome 93665 Category 54251 Aseptic abscess syndrome 324927 Disease 324930 Granulomatous autoinflammatory syndrome 93665 Category 324936 Unclassified autoinflammatory syndrome 93665 Category 251307 Idiopathic recurrent pericarditis 324936, 324953 Disease 324972 MAGIC syndrome 324936 Disease 399158 Osteonecrosis 182231, 93419 Category 566943 Mueller-Weiss syndrome 399158 Disease 399329 Epiphysiolysis of the hip 399158 Disease 444316 Idiopathic phalangeal acro-osteolysis 399158 Disease 2764 Osteochondritis dissecans 399158 Disease 399164 Avascular necrosis 399158 Category 399169 Secondary avascular necrosis 399164 Category 399175 Traumatic avascular necrosis 399169 Disease 399180 Secondary non-traumatic avascular necrosis 399169 Disease 399293 Osteonecrosis of the jaw 399169 Disease 399302 Primary avascular necrosis 399164 Clinical group 399307 Idiopathic avascular necrosis 399302 Disease 399319 Osteochondrosis 399158 Category 564003 Osteochondrosis of the metatarsal bone 399319 Disease 97332 Kienbock disease 399319 Disease 97335 Osgood-Schlatter disease 399319 Disease 97336 Panner disease 399319 Disease 97337 Sinding-Larsen-Johansson disease 399319 Disease 57196 Medial condensing osteitis of the clavicle 399319 Disease 563991 Osteochondrosis of the tarsal bone 399319 Disease 521127 Osteoradionecrosis of the mandible 399158, 521132 Disease 477650 Fibroblastic rheumatism 182231, 486955 Disease 178311 Isolated sternocostoclavicular hyperostosis 182231 Disease 662255 Grisel syndrome 182231 Clinical syndrome 98026 Rare odontologic disease Category 98027 Rare disease with odontological manifestation 98026 Category 164001 Rare odontal or periodontal disorder 98026 Category 67039 Segmental odontomaxillary dysplasia 164001 Disease 83450 Regional odontodysplasia 164001 Disease 83451 Florid cemento-osseous dysplasia 164001 Disease 314425 Rare odontogenic tumor 290849, 98026 Category 314419 Ameloblastoma 314425 Disease 314422 Ameloblastic carcinoma 314425 Disease 447777 Keratocystic odontogenic tumor 314425 Disease 689430 Adenoid ameloblastoma 314425 Disease 98028 Rare circulatory system disease Category 68362 Rare vascular disease 98028 Category 496924 Non-inflammatory vasculopathy 68362 Category 675404 May-Thurner syndrome 496924 Disease 641829 Neonatal compartment syndrome 496924 Clinical syndrome 645350 Segmental arterial mediolysis 496924 Disease 698012 Fibromuscular dysplasia 496924 Disease 698036 Fibromuscular dysplasia of the cervical and intracranial arteries 698012 Clinical subtype 698043 Fibromuscular dysplasia of the renal arteries 698012 Clinical subtype 698059 Fibromuscular dysplasia of the coronary arteries 698012 Clinical subtype 698063 Fibromuscular dysplasia of the visceral arteries 698012 Clinical subtype 698069 Fibromuscular dysplasia of the arteries of the extremities 698012 Clinical subtype 90064 Acute peripheral arterial occlusion 496924 Particular clinical situation in a disease or syndrome 1682 Arterial dissection-lentiginosis syndrome 496924 Malformation syndrome 93419 Rare bone disease Category 68411 Rare bone tumor 93419, 98057 Category 480553 Aneurysmal bone cyst 68411 Disease 55881 Adamantinoma 68411 Disease 58040 Osteoblastoma 68411 Disease 83468 Solitary bone cyst 68411 Disease 223727 Bone sarcoma 68411 Clinical group 2023 Undifferentiated pleomorphic sarcoma 223727, 3394 Disease 2030 Fibrosarcoma 223727, 3394 Disease 668 Osteosarcoma 223727, 506219 Disease 319 Skeletal Ewing sarcoma 223727 Disease 55880 Chondrosarcoma 223727 Disease 363976 Giant cell tumor of bone 223727 Disease 370348 Peripheral primitive neuroectodermal tumor 223727, 3394 Disease 404507 Chondromyxoid fibroma 68411 Disease 696078 Central giant cell granuloma 290849, 68411 Disease 168621 Dysplasia of head of femur, Meyer type 93419 Disease 645822 Primary bone and joint tuberculosis 3389, 93419 Disease 647823 Idiopathic pregnancy-associated osteoporosis 163637, 93419 Disease 98036 Rare otorhinolaryngologic disease Category 68361 Rare deafness 98036 Category 90059 Sudden sensorineural hearing loss 68361 Particular clinical situation in a disease or syndrome 71276 Silent sinus syndrome 98036 Disease 98061 Rare otorhinolaryngologic tumor 290849, 98036 Category 667678 Intraoral basal cell carcinoma 98061 Disease 141077 Epignathus 883, 98061 Clinical subtype 141107 Nasopharyngeal teratoma 883, 98061 Clinical subtype 141115 Nasal ganglioglioma 98061 Disease 67037 Squamous cell carcinoma of head and neck 98061 Category 494547 Squamous cell carcinoma of the hypopharynx 67037 Disease 494550 Squamous cell carcinoma of the larynx 67037 Disease 500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses 67037 Disease 500478 Squamous cell carcinoma of the oropharynx 67037 Disease 502369 Squamous cell carcinoma of oral cavity and lip 67037 Category 502363 Squamous cell carcinoma of the oral cavity 502369 Disease 502366 Squamous cell carcinoma of the lip 502369 Disease 289596 Juvenile nasopharyngeal angiofibroma 98061 Disease 171684 Idiopathic bilateral vestibulopathy 98036 Disease 210272 Mal de débarquement 98036 Clinical syndrome 420402 Semicircular canal dehiscence syndrome 98036 Clinical syndrome 652681 Idiopathic subglottic stenosis 98036 Disease 98047 Rare infertility Category 98048 Rare male infertility 98047 Category 98343 Male infertility due to obstructive azoospermia 98048 Category 399824 Rare disorder with obstructive azoospermia 98343 Category 645874 Primary genito-urinary tuberculosis 3389, 399824 Disease 399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder 98048 Category 399584 Rare male infertility due to adrenal disorder 399572 Category 98049 Rare female infertility 98047 Category 399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder 98049 Category 399849 Rare female infertility due to an adrenal disorder 399831 Category 399853 Rare female infertility due to an anomaly of ovarian function 399831 Category 399882 Rare female infertility due to an implantation defect 98049 Category 250908 Rare neoplastic disease Category 98057 Rare tumor 250908 Category 3399 Germ cell tumor 506219, 98057 Category 363579 Extragonadal germ cell tumor 3399 Category 99913 Extragonadal non-dysgerminomatous germ cell tumor 363579 Category 876 Yolk sac tumor 99913 Disease 883 Extragonadal teratoma 99913 Disease 494421 Sacrococcygeal teratoma 883 Clinical subtype 99926 Gestational choriocarcinoma 59305, 99913 Disease 180226 Embryonal carcinoma 99913 Disease 289362 Non-central nervous system-localized embryonal carcinoma 180226 Clinical subtype 180229 Polyembryoma 99913 Disease 180234 Mixed germ cell tumor 99913 Disease 314613 Growing teratoma syndrome 99913 Particular clinical situation in a disease or syndrome 182127 Extragonadal germinoma 363579 Disease 363582 Gonadal germ cell tumor 3399 Category 35807 Malignant germ cell tumor of ovary 363582, 398940 Category 99912 Ovarian dysgerminoma 35807 Disease 206538 Malignant non-dysgerminomatous germ cell tumor of ovary 35807 Disease 289356 Primary non-gestational choriocarcinoma of ovary 35807 Disease 71209 Rare soft tissue tumor 98057 Category 289685 Myopericytoma 289656, 71209 Disease 66627 Tenosynovial giant cell tumor 71209 Disease 3394 Soft tissue sarcoma 71209 Clinical group 2126 Solitary fibrous tumor 3394 Disease 3273 Synovial sarcoma 3394 Disease 64720 Leiomyosarcoma 289656, 3394 Disease 69077 Rhabdoid tumor 3394 Disease 69078 Liposarcoma 3394 Disease 99967 Myxoid/round cell liposarcoma 69078 Histopathological subtype 99969 Pleomorphic liposarcoma 69078 Histopathological subtype 99970 Dedifferentiated liposarcoma 69078 Histopathological subtype 99971 Well-differentiated liposarcoma 69078 Histopathological subtype 163699 Alveolar soft tissue sarcoma 3394 Disease 209916 Extraskeletal myxoid chondrosarcoma 3394 Disease 293202 Epithelioid sarcoma 3394 Disease 370334 Extraskeletal Ewing sarcoma 3394, 506219 Disease 86902 Follicular dendritic cell sarcoma 289656, 3394 Disease 873 Desmoid tumor 71209 Disease 97338 Melanoma of soft tissue 71209 Disease 157826 Congenital epulis 71209 Disease 178342 Inflammatory myofibroblastic tumor 71209 Disease 247762 Lipoblastoma 71209 Disease 391651 Glomus tumor 71209 Disease 595133 Perivascular epithelioid cell neoplasm 71209 Disease 98059 Rare digestive tumor 98057 Category 98063 Rare gynecological tumor 96344, 98057 Category 180312 Rare vulvovaginal tumor 98063 Category 137583 Vulvar intraepithelial neoplasia 180312 Disease 180247 Vaginal carcinoma 180312 Disease 206489 Malignant germ cell tumor of the vagina 180312 Disease 206492 Vulvovaginal rhabdomyosarcoma 180312 Disease 494418 Vulvar carcinoma 180312 Disease 494448 Vulvar squamous cell carcinoma 494418 Histopathological subtype 494451 Vulvar basal cell carcinoma 494418 Histopathological subtype 494454 Vulvar adenocarcinoma 494418 Histopathological subtype 213564 Rare uterine cancer 98063 Category 213569 Rare cancer of corpus uteri 213564 Category 213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri 213569 Clinical group 213600 Adenosarcoma of the corpus uteri 213589 Disease 213605 Carcinofibroma of the corpus uteri 213589 Disease 213610 Carcinosarcoma of the corpus uteri 213589 Disease 213620 Sarcoma of the corpus uteri 213569 Clinical group 213615 Rhabdomyosarcoma of the corpus uteri 213620 Disease 213625 Leiomyosarcoma of the corpus uteri 213620 Disease 213630 Primitive neuroectodermal tumor of the corpus uteri 213620 Disease 213711 Endometrial stromal sarcoma 213569 Disease 213716 Squamous cell carcinoma of the corpus uteri 213569 Disease 213721 Undifferentiated carcinoma of the corpus uteri 213569 Disease 213726 Serous carcinoma of the corpus uteri 213569 Disease 213736 Low-grade neuroendocrine tumor of the corpus uteri 213569 Disease 213746 Transitional cell carcinoma of the corpus uteri 213569 Disease 213751 Malignant germ cell tumor of the corpus uteri 213569 Disease 213761 Rare cancer of cervix uteri 213564 Category 213767 Squamous cell carcinoma of the cervix uteri 213761 Disease 213772 Adenocarcinoma of the cervix uteri 213761 Disease 213782 Malignant mixed epithelial and mesenchymal tumor of cervix uteri 213761 Clinical group 213787 Carcinosarcoma of the cervix uteri 213782 Disease 213792 Adenosarcoma of the cervix uteri 213782 Disease 213797 Sarcoma of cervix uteri 213761 Clinical group 213802 Rhabdomyosarcoma of the cervix uteri 213797 Disease 213807 Leiomyosarcoma of the cervix uteri 213797 Disease 213812 Primitive neuroectodermal tumor of the cervix uteri 213797 Disease 213823 Adenoid cystic carcinoma of the cervix uteri 213761 Disease 213828 Adenoid basal carcinoma of the cervix uteri 213761 Disease 213833 Glassy cell carcinoma of the cervix uteri 213761 Disease 213837 Malignant germ cell tumor of the cervix uteri 213761 Disease 254685 Gestational trophoblastic disease 98063 Category 59305 Gestational trophoblastic neoplasm 254685 Clinical group 99925 Invasive mole 59305 Disease 99928 Placental site trophoblastic tumor 59305 Disease 254698 Epithelioid trophoblastic tumor 59305 Disease 99927 Hydatidiform mole 254685 Disease 254688 Complete hydatidiform mole 99927 Clinical subtype 254693 Partial hydatidiform mole 99927 Clinical subtype 180220 Rare uterine adnexal tumor 98063 Category 97293 Rare benign ovarian tumor 180220 Category 569248 Microcystic stromal tumor 97293 Disease 206470 Cystadenoma of childhood 97293 Disease 563676 Seromucinous cystadenoma of childhood 206470 Histopathological subtype 563671 Mucinous cystadenoma of childhood 206470 Histopathological subtype 563666 Serous cystadenoma of childhood 206470 Histopathological subtype 314451 Meigs syndrome 97293 Clinical syndrome 314459 Pseudo-Meigs syndrome 97293 Clinical syndrome 314466 Atypical Meigs syndrome 97293 Clinical syndrome 314473 Ovarian fibroma 97293 Disease 314478 Ovarian fibrothecoma 97293 Disease 180237 Benign tumor of fallopian tubes 180220 Disease 180242 Malignant tumor of fallopian tubes 180220 Disease 213500 Rare ovarian cancer 180220 Category 398934 Malignant epithelial tumor of ovary 213500 Category 213504 Adenocarcinoma of ovary 398934 Disease 213512 Malignant mixed Müllerian tumor of the ovary 398934 Disease 398961 Mucinous adenocarcinoma of ovary 398934 Disease 398971 Clear cell adenocarcinoma of the ovary 398934 Disease 454723 Endometrioid carcinoma of ovary 398934 Disease 398940 Malignant non-epithelial tumor of ovary 213500 Category 370396 Small cell carcinoma of the ovary 398940 Disease 35808 Malignant sex cord stromal tumor of ovary 398940 Category 99914 Gynandroblastoma 35808 Disease 99915 Malignant granulosa cell tumor of the ovary 35808 Disease 99916 Malignant Sertoli-Leydig cell tumor of the ovary 35808 Disease 99917 Theca steroid-producing cell malignant tumor of ovary, not further specified 35808 Disease 398987 Malignant teratoma of ovary 398940 Disease 696830 Female adnexal tumor of probable Wolffian origin 180220 Disease 180250 Rare breast tumor 98063 Category 180253 Rare benign breast tumor 180250 Category 180261 Phyllodes tumor of the breast 180253, 180257 Disease 180267 Giant adenofibroma of the breast 180253 Disease 180257 Rare malignant breast tumor 180250 Category 180275 Paget disease of the nipple 180257 Disease 213528 Rare adenocarcinoma of the breast 180257 Disease 213531 Metaplastic carcinoma of the breast 180257 Disease 213557 Salivary gland type cancer of the breast 180257 Disease 694963 Inflammatory breast cancer 180257 Disease 100100 Thymic tumor 98057 Category 3398 Thymic epithelial neoplasm 100100 Category 99867 Thymoma 3398 Disease 263310 Thymoma type A 99867 Histopathological subtype 263317 Thymoma type B 99867 Histopathological subtype 263324 Thymoma type AB 99867 Histopathological subtype 99868 Thymic carcinoma 3398 Disease 182130 Tumor of endocrine glands 98057 Category 304055 Pituitary tumor 182130 Category 300385 Pituitary carcinoma 304055 Disease 289635 Rare virus associated tumor 98057 Category 102024 Human herpesvirus 8-related disorder 289635 Category 289638 Epstein-Barr Virus-related tumor 289635 Category 289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder 289638 Category 289651 Epstein-Barr Virus-associated carcinoma 289638 Category 289682 Lymphoepithelial-like carcinoma 289651 Disease 289656 Epstein-Barr Virus-associated mesenchymal tumor 289638 Category 443291 HIV-associated cancer 289635 Particular clinical situation in a disease or syndrome 290849 Rare head and neck tumor 98057 Category 443167 NUT midline carcinoma 98057 Disease 626609 Rare andrological tumor 98057 Category 631251 Cancer of unknown primary site 98057 Disease 68416 Rare infectious disease Category 163582 Rare bacterial infectious disease 68416 Category 1304 Brucellosis 163582 Disease 173 Cholera 163582 Disease 795 Rare form of salmonellosis 163582 Category 99745 Typhoid 795 Disease 324648 Invasive non-typhoidal salmonellosis 795 Disease 443227 Paratyphoid fever 795 Disease 509 Leptospirosis 163582 Disease 810 Shigellosis 163582 Disease 533 Listeriosis 163582 Disease 1489 Whooping cough 163582 Disease 1679 Diphtheria 163582 Disease 3389 Tuberculosis 163582 Clinical group 645807 Primary tuberculous lymphadenitis 3389 Disease 2700 Noma 163582 Disease 2583 Mycetoma 163582, 163591 Disease 3392 Tularemia 163582 Disease 781 Q fever 163582 Disease 31202 Melioidosis 163582 Disease 31204 Nocardiosis 163582 Disease 31205 Rat-bite fever 163582 Disease 99903 Spirillary rat-bite fever 31205 Etiological subtype 99905 Streptobacillary rat-bite fever 31205 Etiological subtype 36234 Bacterial toxic-shock syndrome 163582 Disease 99918 Streptococcal toxic-shock syndrome 36234 Etiological subtype 99919 Staphylococcal toxic-shock syndrome 300579, 36234 Etiological subtype 50839 Cat-scratch disease 163582 Disease 64692 Bartonella bacilliformis infection 163582 Disease 659759 Verruga peruana 64692 Clinical subtype 659756 Oroya fever 64692 Clinical subtype 64694 Trench fever 163582 Disease 83317 Scrub typhus 163582 Disease 91547 Relapsing fever 163582 Disease 102021 Rickettsial disease 163582 Category 1902 Ehrlichiosis 102021 Disease 102022 Spotted fever rickettsiosis 102021 Category 83311 Rocky Mountain spotted fever 102022 Disease 83312 Rickettsialpox 102022 Disease 83313 Boutonneuse fever 102022 Disease 83316 Pseudotyphus of California 102022 Disease 101334 African tick typhus 102022 Disease 102023 Typhus-group rickettsiosis 102021 Category 83314 Epidemic typhus 102023 Disease 99990 Brill-Zinsser disease 83314 Clinical subtype 99991 Relapsing epidemic typhus 83314 Clinical subtype 83315 Murine typhus 102023 Disease 137839 Lemierre syndrome 163582 Disease 247257 Inhalational anthrax 163582 Disease 300579 Staphylococcal toxemia 163582 Category 36235 Staphylococcal scarlet fever 300579 Disease 36236 Staphylococcal scalded skin syndrome 300579 Disease 440368 Necrotizing soft tissue infection 163582 Disease 699678 Necrotizing cellulitis 440368 Clinical subtype 699697 Necrotizing fasciitis 440368 Clinical subtype 699702 Necrotizing myositis 440368 Clinical subtype 90078 Invasive infections due to vancomycin-resistant enterococci 163582 Particular clinical situation in a disease or syndrome 457095 Actinomycosis 163582 Disease 600832 Legionella infection 163582 Clinical group 99748 Pontiac fever 600832 Disease 549 Legionnaires disease 600832 Disease 659712 Rare yersiniosis 163582 Category 707 Plague 659712 Disease 659707 Yersinia pseudotuberculosis infection 659712 Disease 660053 Psittacosis 163582 Disease 659908 Glanders 163582 Disease 688995 Scarlet fever 163582 Disease 163585 Rare viral disease 68416 Category 341 Viral hemorrhagic fever 163585 Category 340 Hemorrhagic fever-renal syndrome 341 Disease 99824 Lassa fever 341 Disease 99826 Marburg hemorrhagic fever 341 Disease 99827 Crimean-Congo hemorrhagic fever 341 Disease 319213 Lujo hemorrhagic fever 341 Disease 319218 Ebola hemorrhagic fever 341 Disease 319223 Argentine hemorrhagic fever 341 Disease 319229 Bolivian hemorrhagic fever 341 Disease 319234 Venezuelan hemorrhagic fever 341 Disease 319239 Brazilian hemorrhagic fever 341 Disease 319244 Chapare hemorrhagic fever 341 Disease 319247 Hantavirus pulmonary syndrome 341 Disease 319251 Rift valley fever 341 Disease 319254 Kyasanur forest disease 341 Disease 319266 Omsk hemorrhagic fever 341 Disease 99828 Dengue fever 341 Disease 99829 Yellow fever 341 Disease 2566 Chronic Epstein-Barr virus infection syndrome 163585 Disease 35062 Severe disseminated cytomegalovirus infection in immunocompetent patients 163585 Disease 438279 Human infection by orthopoxvirus 163585 Disease 91127 Adenovirus infection in immunocompromised patients 163585 Particular clinical situation in a disease or syndrome 137698 Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk 163585 Particular clinical situation in a disease or syndrome 448237 Zika virus disease 163585 Disease 163588 Rare parasitic disease 68416 Category 1223 Balantidiasis 163588 Disease 697096 Cryptosporidiosis 163588 Disease 673 Malaria 163588 Disease 1247 Schistosomiasis 163588 Disease 284 Alveolar echinococcosis 163588 Disease 3386 American trypanosomiasis 163588 Disease 507 Leishmaniasis 163588 Disease 1070 Anisakiasis 163588 Disease 2552 Microsporidiosis 163588 Disease 1560 Cysticercosis 163588 Disease 3385 African trypanosomiasis 163588 Disease 67 Amoebiasis due to Entamoeba histolytica 163588 Disease 1685 Distomatosis 163588 Clinical group 658909 Fasciolopsiasis 1685 Disease 658913 Paragonimiasis 1685 Disease 658917 Clonorchiasis 1685 Disease 2034 Filariasis 163588 Category 231 Dracunculiasis 2034 Disease 2035 Lymphatic filariasis 2034 Disease 2404 Loiasis 2034 Disease 2459 Mansonelliasis 2034 Disease 166291 Dirofilariasis 2034 Disease 3343 Toxocariasis 163588 Disease 68 Amoebiasis due to free-living amoebae 163588 Disease 74 Angiostrongyliasis 163588 Disease 76 Strongyloidiasis 163588 Disease 78 Ankylostomiasis 163588 Disease 108 Babesiosis 163588 Disease 128 Diphyllobothriasis 163588 Disease 210 Cyclosporiasis 163588 Disease 283 Demodicidosis 163588 Disease 400 Cystic echinococcosis 163588 Disease 401 Hymenolepiasis 163588 Disease 472 Isosporiasis 163588 Disease 879 Tungiasis 163588 Disease 54368 Sarcocystosis 163588 Disease 75110 Myiasis 163588 Category 99983 Cutaneous myiasis 75110 Category 504 Creeping myiasis 99983 Disease 591 Furuncular myiasis 99983 Disease 563690 Furuncular myiasis due to Cordylobia rodhaini 591 Clinical subtype 563687 Furuncular myiasis due to Cordylobia anthropophaga 591 Clinical subtype 563684 Furuncular myiasis due to Dermatobia hominis 591 Clinical subtype 165955 Wound myiasis 99983 Disease 423717 Cutaneous larva migrans 163588 Disease 163591 Rare mycosis 68416 Category 1163 Aspergillosis 163591 Disease 182 Chromomycosis 163591 Disease 390 Histoplasmosis 163591 Disease 723 Pneumocystosis 163591 Disease 826 Sporotrichosis 163591 Disease 73260 Paracoccidioidomycosis 163591 Disease 73263 Zygomycosis 163591 Disease 228119 Fusariosis 163591 Disease 397587 Deep dermatophytosis 163591 Disease 1546 Cryptococcosis 163591 Disease 228123 Coccidioidomycosis 163591 Disease 449280 Scedosporiosis 163591 Disease 697053 Talaromycosis 163591 Disease 636945 Invasive candidiasis 163591 Disease 633124 Invasive scopulariopsis infection 163591, 565779 Disease 697091 Emergomycosis 163591 Disease 108999 Rare disorder due to toxic effects Category 521132 Radiation-induced disorder 108999 Category 454831 Acute radiation syndrome 521132 Particular clinical situation in a disease or syndrome 306640 Rare intoxication due to medical products 108999 Category 565782 Methotrexate toxicity 306640 Disease 529831 Letrozole toxicity 306640 Particular clinical situation in a disease or syndrome 31824 Colchicine poisoning 306640 Particular clinical situation in a disease or syndrome 31828 Digitalis poisoning 306640 Particular clinical situation in a disease or syndrome 43117 Acute tricyclic antidepressant poisoning 306640 Particular clinical situation in a disease or syndrome 43119 Acute poisoning by drugs with membrane-stabilizing effect 306640 Particular clinical situation in a disease or syndrome 217064 5-fluorouracil poisoning 306640 Particular clinical situation in a disease or syndrome 293807 Ketamine-induced biliary dilatation 306640 Disease 466670 Cyanide poisoning 306640 Particular clinical situation in a disease or syndrome 464458 Paracetamol poisoning 306640 Particular clinical situation in a disease or syndrome 556508 Rare disorder due to poisoning 108999 Category 31825 Methanol poisoning 556508 Disease 31826 Ethylene glycol poisoning 556508 Disease 31827 Paraquat poisoning 556508 Disease 35889 Acute opioid intoxication 556508 Disease 60014 Argyria 556508 Disease 73423 Acute ackee fruit intoxication 556508 Disease 90068 Cocaine intoxication 556508 Disease 90069 Systemic monochloroacetate poisoning 556508 Disease 227972 Toxic oil syndrome 556508 Disease 247165 Infantile mercury poisoning 556508 Disease 330015 Lead poisoning 556508 Disease 330021 Mercury poisoning 556508 Disease 449285 Snakebite envenomation 556508 Disease 466677 Scorpion envenomation 556508 Disease 96344 Rare gynecologic or obstetric disease Category 163637 Rare disorder related with pregnancy, childbirth and puerperium 96344 Category 617307 Rare disorder related to monochorionic twin pregnancy 163637 Category 617310 Rare disorder due to unbalanced inter-twin blood transfusion 617307 Category 617297 Twin-reversed arterial perfusion sequence 617310 Disease 617313 Rare disorder due to inadequate sharing of the placenta 617307 Category 617301 Selective intrauterine growth restriction 617313 Disease 617304 Amniotic fluid embolism 163637 Disease 662721 Placenta accreta spectrum disorder 163637 Disease 662786 Vasa previa 163637 Disease 615970 Chronic intervillositis of unknown etiology 163637 Disease 275555 Preeclampsia 163637 Disease 289385 Malignancy diagnosed during pregnancy 163637 Particular clinical situation in a disease or syndrome 439167 Placental insufficiency 163637 Clinical syndrome 180062 Uterovaginal malformation 96344 Category 180148 Syndromic uterovaginal malformation 180062 Category 180163 Rare breast malformation 96344 Category 180170 Excess breast volume or number 180163 Category 2456 Familial supernumerary nipples 180170 Morphological anomaly 180176 Familial juvenile hypertrophy of the breast 180170 Morphological anomaly 180182 Supernumerary breasts 180170 Morphological anomaly 180173 Deficient breast volume or number 180163 Category 180193 Syndromic breast hypoplasia/aplasia 180173 Category 180199 Rare non-malformative gynecologic or obstetric disease 96344 Category 137820 Extrapelvic endometriosis 180199 Disease 180202 Rare non-malformative breast disease 180199 Category 64722 Granulomatous mastitis 180202 Disease 653698 Lymphocytic mastitis 180202 Disease 180205 Rare non-malformative uterovaginal or vulvovaginal disease 180199 Category 137686 Asherman syndrome 180205 Disease 180303 Rare non-malformative uterine adnexal disease 180199 Category 180208 Anomaly of puberty or/and menstrual cycle 96344 Category 435561 Rare precocious puberty in female 180208 Category 650187 Rare peripheral precocious puberty in female 435561 Clinical group 498251 Menstrual cycle-dependent periodic fever 180208 Disease 325620 Difference of sex development of gynecological interest 96344 Category 68329 Rare maxillo-facial surgical disease Category 210581 Temporomandibular joint anomaly 68329 Category 210576 Congenital temporomandibular joint ankylosis 210581 Disease 477781 Primary condylar hyperplasia 210581 Disease 357154 Oral submucous fibrosis 68329 Disease 98050 Rare allergic disease Category 98052 Rare allergic respiratory disease 98050 Category 280342 Rare systemic or rheumatological disease of childhood Category 280369 Rare pediatric vasculitis 280342 Category 280373 Rare pediatric systemic disease 280342 Category 486955 Rare pediatric rheumatologic disease 280342 Category 319719 Autoinflammatory syndrome of childhood 486955 Category 324939 Periodic fever syndrome of childhood 319719 Category 324960 Unexplained periodic fever syndrome of childhood 324939 Category 324942 Pyogenic autoinflammatory syndrome of childhood 319719 Category 324950 Granulomatous autoinflammatory syndrome of childhood 319719 Category 324953 Unclassified autoinflammatory syndrome of childhood 319719 Category 481671 Type 1 interferonopathy of childhood 319719 Category 565779 Rare disorder potentially indicated for transplant or complication after transplantation Category 90053 Complications after hematopoietic stem cell transplantation 565779 Particular clinical situation in a disease or syndrome 306644 Complication after organ transplantation 565779 Particular clinical situation in a disease or syndrome 506207 Rare disorder potentially indicated for transplant 565779 Category 506225 Rare disorder potentially indicated for heart transplant 506207 Category 506210 Rare disorder potentially indicated for liver transplant 506207 Category 506213 Rare disorder potentially indicated for kidney transplant 506207 Category 506216 Rare disorder potentially indicated for bowel transplant 506207 Category 506219 Rare disorder potentially indicated for hematopoietic stem cell transplant 506207 Category 506222 Rare disorder potentially indicated for lung transplant 506207 Category 618137 Functional head of classification for rare disorder without a determined diagnosis after full investigation Category 616874 Rare disorder without a determined diagnosis after full investigation 618137 Disease
Orphanet classification of rare diseases. Contains all entities from the 34 Orphanet classification trees, with hierarchical parent-child relationships. Source: Orphadata CC BY 4.0 (https://www.orphadata.com) Codes are Orphanet ORPHA numbers (e.g., ORPHA:98050).
Parent concept in the classification hierarchy
Type of Orphanet disorder (Disease, Clinical group, Category, Etiological subtype, Clinical subtype, Malformation syndrome, etc.)
Inherited isolated arrhythmogenic cardiomyopathy
Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant
Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant
Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant
Rare familial disorder with hypertrophic cardiomyopathy
Glycogen storage disease with hypertrophic cardiomyopathy
Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
Glycogen storage disease due to acid maltase deficiency
Glycogen storage disease due to acid maltase deficiency, infantile onset
Glycogen storage disease due to acid maltase deficiency, late-onset
Glycogen storage disease due to glycogen debranching enzyme deficiency
Glycogen storage disease due to muscle and heart glycogen synthase deficiency
Lysosomal disease with hypertrophic cardiomyopathy
Mucopolysaccharidosis type 2, severe form
Mucopolysaccharidosis type 2, attenuated form
Mitochondrial disease with hypertrophic cardiomyopathy
Mitochondrial DNA-related cardiomyopathy and hearing loss
Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome
Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
Combined oxidative phosphorylation defect type 17
Combined oxidative phosphorylation defect type 23
Ocular anomalies-axonal neuropathy-developmental delay syndrome
Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome
QRSL1-related combined oxidative phosphorylation defect
Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy
Mitochondrial trifunctional protein deficiency
Carnitine-acylcarnitine translocase deficiency
Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency
Multiple acyl-CoA dehydrogenase deficiency
Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type
Multiple acyl-CoA dehydrogenase deficiency, mild type
Very long chain acyl-CoA dehydrogenase deficiency
Syndrome associated with hypertrophic cardiomyopathy
Childhood-onset Steinert myotonic dystrophy
Juvenile-onset Steinert myotonic dystrophy
Congenital-onset Steinert myotonic dystrophy
Beckwith-Wiedemann syndrome due to 11p15 microduplication
Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11
Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
Beckwith-Wiedemann syndrome due to CDKN1C mutation
Beckwith-Wiedemann syndrome due to 11p15 microdeletion
Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
Cardiomyopathy-hypotonia-lactic acidosis syndrome
Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
Alpha-B crystallin-related late-onset myopathy
Noonan syndrome-like disorder with loose anagen hair
Noonan syndrome with multiple lentigines
Noonan syndrome-like disorder with juvenile myelomonocytic leukemia
Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome
Non-familial hypertrophic cardiomyopathy
Glycogen storage disease due to glycogen branching enzyme deficiency
Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form
Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form
Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form
Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form
Familial isolated dilated cardiomyopathy
Neuromuscular disease with dilated cardiomyopathy
Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers
Autosomal dominant Emery-Dreifuss muscular dystrophy
Autosomal recessive Emery-Dreifuss muscular dystrophy
X-linked Emery-Dreifuss muscular dystrophy
Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3
Beta-sarcoglycan-related limb-girdle muscular dystrophy R4
Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
Delta-sarcoglycan-related limb-girdle muscular dystrophy R6
Fukutin-related limb-girdle muscular dystrophy R13
Early-onset myopathy with fatal cardiomyopathy
Mitochondrial disease with dilated cardiomyopathy
Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy
Syndrome associated with dilated cardiomyopathy
Cardiomyopathy-cataract-hip spine disease syndrome
Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
Kidney tubulopathy-dilated cardiomyopathy syndrome
Sensorineural deafness with dilated cardiomyopathy
Erythrokeratodermia-cardiomyopathy syndrome
Familial dilated cardiomyopathy with conduction defect due to LMNA mutation
Congenital disorder of glycosylation with dilated cardiomyopathy
Non-familial rare disease with dilated cardiomyopathy
Eosinophilic granulomatosis with polyangiitis
Familial isolated restrictive cardiomyopathy
Lysosomal disease with restrictive cardiomyopathy
Triglyceride deposit cardiomyovasculopathy
Idiopathic triglyceride deposit cardiomyovasculopathy
Primary triglyceride deposit cardiomyovasculopathy
Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Carney complex-trismus-pseudocamptodactyly syndrome
Hereditary progressive cardiac conduction defect
Atrial septal defect-atrioventricular conduction defects syndrome
Catecholaminergic polymorphic ventricular tachycardia
Torsade-de-pointes syndrome with short coupling interval
Sinoatrial node dysfunction and deafness
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
Chronic atrial and intestinal dysrhythmia syndrome
Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome
GNB5-related intellectual disability-cardiac arrhythmia syndrome
BVES-related limb-girdle muscular dystrophy
Incessant infant ventricular tachycardia
LMNA-related cardiocutaneous progeria syndrome
Particular clinical situation in a disease or syndrome
Idiopathic spontaneous coronary artery dissection
Postcardiotomy right ventricular failure
Rare developmental defect during embryogenesis
Non-syndromic renal or urinary tract malformation
Unilateral multicystic dysplastic kidney
Renal tubular dysgenesis due to twin-twin transfusion
Renal tubular dysgenesis of genetic origin
Congenital primary megaureter, obstructed form
Congenital primary megaureter, refluxing form
Congenital primary megaureter, nonrefluxing and unobstructed form
Congenital primary megaureter, refluxing and obstructed form
Syndromic renal or urinary tract malformation
Turner syndrome due to structural X chromosome anomalies
Rubinstein-Taybi syndrome due to CREBBP mutations
Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
Alagille syndrome due to 20p12 microdeletion
Alagille syndrome due to a JAG1 point mutation
Alagille syndrome due to a NOTCH2 point mutation
Aniridia-renal agenesis-psychomotor retardation syndrome
Hydrocephalus-blue sclerae-nephropathy syndrome
Hypoparathyroidism-sensorineural deafness-renal disease syndrome
Megacystis-microcolon-intestinal hypoperistalsis syndrome
Fibulo-ulnar hypoplasia-renal anomalies syndrome
Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
Nephrosis-deafness-urinary tract-digital malformations syndrome
Arthrogryposis-renal dysfunction-cholestasis syndrome
Multicentric carpo-tarsal osteolysis with or without nephropathy
Spastic paraplegia-nephritis-deafness syndrome
Mayer-Rokitansky-Küster-Hauser syndrome type 2
Mayer-Rokitansky-Küster-Hauser syndrome type 1
Holoprosencephaly-radial heart renal anomalies syndrome
Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome
Double uterus-hemivagina-renal agenesis syndrome
HNF1B-related autosomal dominant tubulointerstitial kidney disease
Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome
Renal caliceal diverticuli-deafness syndrome
Tall stature-intellectual disability-renal anomalies syndrome
Congenital vertebral-cardiac-renal anomalies syndrome
SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
PBX1-related congenital anomalies of kidney-urinary tract syndrome
Structural heart defects-renal anomalies syndrome
Rare congenital non-syndromic heart malformation
Rare congenital anomaly of ventricular septum
Congenital complete agenesis of pericardium
Congenital partial agenesis of pericardium
Anomalous aortic origin of coronary artery
Anomalous aortic origin of the left coronary artery
Anomalous aortic origin of the right coronary artery
Anomalous origin of coronary artery from the pulmonary artery
Pulmonary atresia-intact ventricular septum syndrome
Transposition of the great arteries and conotruncal cardiac anomaly
Common arterial trunk with pulmonary dominance and interrupted aortic arch
Common arterial trunk with aortic dominance
Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome
Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome
Pulmonary artery coming from patent ductus arteriosus
Abnormal origin of right or left pulmonary artery from the aorta
Pulmonary atresia with ventricular septal defect
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis
Double outlet right ventricle with subpulmonary ventricular septal defect
Double outlet right ventricle with non-committed subpulmonary ventricular septal defect
Double outlet right ventricle with subaortic or doubly committed ventricular septal defect
Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
Discrete fixed membranous subaortic stenosis
Discrete fibromuscular subaortic stenosis
Pulmonary artery or pulmonary branch anomaly
Congenitally uncorrected transposition of the great arteries
Congenitally uncorrected transposition of the great arteries with coarctation
Isolated congenitally uncorrected transposition of the great arteries
Congenitally uncorrected transposition of the great arteries with cardiac malformation
Congenitally corrected transposition of the great arteries
Congenital mitral valve insufficiency and/or stenosis
Anomaly of the mitral subvalvular apparatus
Straddling and/or overriding mitral valve
Straddling or overriding tricuspid valve
Anomaly of the tricuspid subvalvular apparatus
Congenital anomaly of the tricuspid valve chordae
Ebstein malformation of the tricuspid valve
Complete atrioventricular septal defect without ventricular hypoplasia
Complete atrioventricular septal defect with ventricular hypoplasia
Complete atrioventricular septal defect-tetralogy of Fallot
Partial atrioventricular septal defect with ventricular hypoplasia
Partial atrioventricular septal defect without ventricular hypoplasia
Intermediate atrioventricular septal defect
FLNA-related X-linked myxomatous valvular dysplasia
Congenital anomaly of the great arteries
Congenital patent ductus arteriosus aneurysm
Rare atrial defect and interatrial communication
Atrial septal defect, ostium secundum type
Atrial septal defect, coronary sinus type
Atrial septal defect, sinus venosus type
Atrial septal defect, ostium primum type
Familial idiopathic dilatation of the right atrium
EPHB4-related lymphatic-related hydrops fetalis
Congenital anomaly of superior vena cava
Persistent left superior vena cava connecting through coronary sinus to left-sided atrium
Right superior vena cava connecting to left-sided atrium
Persistent left superior vena cava connecting to the roof of left-sided atrium
Congenital anomaly of the inferior vena cava
Right inferior vena cava connecting to left-sided atrium
Azygos continuation of the inferior vena cava
Congenital stenosis of the inferior vena cava
Inferior vena cava interruption without azygos continuation
Congenital anomaly of the coronary sinus
Congenital pulmonary venous return anomaly
Congenital partial pulmonary venous return anomaly
Congenital total pulmonary venous return anomaly
Congenital pulmonary veins atresia or stenosis
Rare syndrome with cardiac malformations
Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome
Atrioventricular defect-blepharophimosis-radial and anal defect syndrome
Microcephaly-cardiac defect-lung malsegmentation syndrome
Brain malformation-congenital heart disease-postaxial polydactyly syndrome
Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type
Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation
Developmental delay-facial dysmorphism syndrome due to MED13L deficiency
Congenital disorder of glycosylation with cardiac malformation as a major feature
Musculocontractural Ehlers-Danlos syndrome
Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
Noonan syndrome and Noonan-related syndrome
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation
Subaortic stenosis-short stature syndrome
KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome
TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome
Microcephaly-seizures-intellectual disability-heart disease syndrome
Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome
Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome
Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome
Lethal brain and heart developmental defects
Spondylometaphyseal dysplasia-corneal dystrophy syndrome
TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome
CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome
Non-syndromic unisutural craniosynostosis
Non-syndromic unicoronal craniosynostosis
Non-syndromic unilambdoid craniosynostosis
Non-syndromic unifrontosphenoidal craniosynostosis
Non-syndromic unisquamosal craniosynostosis
Non-syndromic multisutural craniosynostosis
Non-syndromic non-specific multisutural craniosynostosis
Non-syndromic bilambdoid craniosynostosis
Non-syndromic unicoronal and sagittal craniosynostosis
Non-syndromic metopic and sagittal craniosynostosis
Non-syndromic bicoronal and metopic craniosynostosis
Non-syndromic bicoronal and sagittal craniosynostosis
Non-syndromic bicoronal craniosynostosis
Non-syndromic bilambdoid and sagittal craniosynostosis
Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis
Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome
Holoprosencephaly-craniosynostosis syndrome
Trigonocephaly-short stature-developmental delay syndrome
X-linked intellectual disability-plagiocephaly syndrome
Craniosynostosis-intracranial calcifications syndrome
Craniosynostosis-anal anomalies-porokeratosis syndrome
Crouzon syndrome-acanthosis nigricans syndrome
Cloverleaf skull-multiple congenital anomalies syndrome
Cloverleaf skull-asphyxiating thoracic dysplasia syndrome
Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome
Familial scaphocephaly syndrome, McGillivray type
Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome
Osteosclerosis-developmental delay-craniosynostosis syndrome
Lethal occipital encephalocele-skeletal dysplasia syndrome
Mucopolysaccharidosis type 6, rapidly progressing
Mucopolysaccharidosis type 6, slowly progressing
Radioulnar synostosis-developmental delay-hypotonia syndrome
Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome
Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
Craniosynostosis-microretrognathia-severe intellectual disability syndrome
Craniosynostosis-facial dysmorphism-brachydactyly syndrome
Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome
Koolen-De Vries syndrome due to a point mutation
Cleidocranial dysplasia and isolated cranial ossification defect
Parietal foramina with clavicular hypoplasia
Osteopathia striata-cranial sclerosis syndrome
Isolated tubular duplication of the esophagus
Anophthalmia/microphthalmia-esophageal atresia syndrome
Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome
Non-syndromic gastroduodenal malformation
Microgastria-limb reduction defect syndrome
Rare disorder with Hirschsprung disease as a major feature
Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease
Hirschsprung disease-type D brachydactyly syndrome
Mowat-Wilson syndrome due to monosomy 2q22
Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease-nail hypoplasia-dysmorphism syndrome
Hirschsprung disease-deafness-polydactyly syndrome
Umbilical cord ulceration-intestinal atresia syndrome
Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome
Combined immunodeficiency-multiple intestinal atresia
Diaphragmatic hernia-short bowel-asplenia syndrome
Malformation of the anal canal and the rectum
Non-syndromic rectourethral fistula, bulbar type
Non-syndromic rectourethral fistula, prostatic type
Non-syndromic anorectal malformation without fistula
X-linked skeletal dysplasia-intellectual disability syndrome
Microphthalmia with linear skin defects syndrome
46,XX difference of sex development-anorectal anomalies syndrome
Short rib-polydactyly syndrome, Verma-Naumoff type
Okihiro syndrome due to 20q13 microdeletion
Okihiro syndrome due to a point mutation
Maternal uniparental disomy of chromosome 16 syndrome
Syndactyly-telecanthus-anogenital and renal malformations syndrome
Oculogastrointestinal-neurodevelopmental syndrome
Short rib-polydactyly syndrome, Saldino-Noonan type
Visceral malformation of the liver, biliary tract, pancreas or spleen
Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen
Splenogonadal fusion-limb defects-micrognathia syndrome
Biliary atresia with splenic malformation syndrome
Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome
Pancreatic agenesis-holoprosencephaly syndrome
Diaphragmatic or abdominal wall malformation
Non-syndromic diaphragmatic or abdominal wall malformation
Syndromic diaphragmatic or abdominal wall malformation
Diaphragmatic defect-limb deficiency-skull defect syndrome
Lethal omphalocele-cleft palate syndrome
Omphalocele syndrome, Shprintzen-Goldberg type
Autosomal recessive cutis laxa type 2, classic type
Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
Lethal arteriopathy syndrome due to fibulin-4 deficiency
Classical-like Ehlers-Danlos syndrome type 1
Familial omphalocele syndrome with facial dysmorphism
Spigelian hernia-cryptorchidism syndrome
Lethal hydranencephaly-diaphragmatic hernia syndrome
Non-syndromic central nervous system malformation
Congenital non-communicating hydrocephalus
Spina bifida and other spinal dysraphisms
Open spinal dysraphism with a posterior meningocele
Open spinal dysraphism with a myelomeningocele
Spinal dysraphism with a posterior meningocele
Saccular spinal dysraphism with a stalk to the dome
Transitional extramedullary conus spinal cord lipoma
Terminal extramedullary conus spinal cord lipoma
Posterior extramedullary conus spinal cord lipoma
Non-saccular limited dorsal myeloschisis
Fibroneural non-saccular limited dorsal myeloschisis
Lipomatous non-saccular limited dorsal myeloschisis
Intramedullary non-dysraphic spinal cord lipoma
Malformation of the neurenteric canal, spinal cord and column
Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome
Isolated hereditary congenital facial paralysis
Congenital hereditary facial paralysis-variable hearing loss syndrome
Non-syndromic pontocerebellar hypoplasia
Isolated total cerebellar vermis agenesis
Isolated partial cerebellar vermis agenesis
Malformation of the cerebellar hemispheres
Isolated unilateral hemispheric cerebellar hypoplasia
Isolated bilateral hemispheric cerebellar hypoplasia
Hydrocephaly-cerebellar agenesis syndrome
Isolated Dandy-Walker malformation with hydrocephalus
Isolated Dandy-Walker malformation without hydrocephalus
Sporadic fetal brain disruption sequence
Non-syndromic cerebral malformation due to abnormal neuronal migration
Bilateral parasagittal parieto-occipital polymicrogyria
Isolated focal cortical dysplasia type I
Isolated focal cortical dysplasia type Ia
Isolated focal cortical dysplasia type Ib
Isolated focal cortical dysplasia type Ic
Isolated focal cortical dysplasia type II
Isolated focal cortical dysplasia type IIa
Isolated focal cortical dysplasia type IIb
Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
Autosomal recessive frontotemporal pachygyria
Pachygyria-intellectual disability-epilepsy syndrome
Autosomal recessive primary microcephaly
Midline interhemispheric variant of holoprosencephaly
Diencephalic-mesencephalic junction dysplasia
Central nervous system cystic malformation
Dermoid or epidermoid cyst of the central nervous system
Syndrome with a central nervous system malformation as a major feature
Lissencephaly syndrome, Norman-Roberts type
Cobblestone lissencephaly without muscular or ocular involvement
Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
Congenital muscular dystrophy, Fukuyama type
Muscle-eye-brain disease with bilateral multicystic leucodystrophy
Lissencephaly with cerebellar hypoplasia
Lissencephaly with cerebellar hypoplasia type A
Lissencephaly with cerebellar hypoplasia type B
Lissencephaly with cerebellar hypoplasia type C
Lissencephaly with cerebellar hypoplasia type D
Lissencephaly with cerebellar hypoplasia type E
Lissencephaly with cerebellar hypoplasia type F
Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
Lissencephaly type 1 due to doublecortin gene mutation
Isolated lissencephaly type 1 without known genetic defects
Other syndrome with lissencephaly as a major feature
Baraitser-Winter cerebrofrontofacial syndrome
X-linked lissencephaly with abnormal genitalia
Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
Lissencephaly type 3-familial fetal akinesia sequence syndrome
Lissencephaly type 3-metacarpal bone dysplasia syndrome
Syndrome with corpus callosum agenesis/dysgenesis as a major feature
Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome
Corpus callosum agenesis-neuronopathy syndrome
Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome
White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome
Microcephaly-polymicrogyria-corpus callosum agenesis syndrome
Hydrocephalus with stenosis of the aqueduct of Sylvius
X-linked complicated corpus callosum dysgenesis
X-linked complicated spastic paraplegia type 1
ARX-related encephalopathy-brain malformation spectrum
Corpus callosum agenesis-abnormal genitalia syndrome
Corpus callosum agenesis-macrocephaly-hypertelorism syndrome
Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome
Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome
Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency
Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom
Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
Syndrome with a cerebellar malformation as a major feature
X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome
Cerebellar hypoplasia-tapetoretinal degeneration syndrome
Porencephaly-cerebellar hypoplasia-internal malformations syndrome
Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
Endosteal sclerosis-cerebellar hypoplasia syndrome
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked intellectual disability, Najm type
X-linked cerebral-cerebellar-coloboma syndrome
Syndrome with a Dandy-Walker malformation as a major feature
X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome
Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome
Cervical hypertrichosis-peripheral neuropathy syndrome
Macrocephaly-short stature-paraplegia syndrome
Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome
Dandy-Walker malformation-postaxial polydactyly syndrome
Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome
Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome
Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome
Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome
Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation
Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster
Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome
Syndrome with microcephaly as a major feature
Blepharophimosis-ptosis-epicanthus inversus syndrome plus
PYCR2-related microcephaly-progressive leukoencephalopathy
Microcephaly-brachydactyly-kyphoscoliosis syndrome
Microcephaly-cervical spine fusion anomalies syndrome
Microcephaly-brain defect-spasticity-hypernatremia syndrome
Microcephaly-lymphedema-chorioretinopathy syndrome
Microcephaly-microcornea syndrome, Seemanova type
Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome
Microcephaly-capillary malformation syndrome
Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome
Microcephalic primordial dwarfism, Toriello type
Microcephalic osteodysplastic primordial dwarfism types I and III
Microcephalic osteodysplastic primordial dwarfism type II
Microcephalic osteodysplastic dysplasia, Saul-Wilson type
Microcephalic primordial dwarfism, Dauber type
Microcephalic primordial dwarfism due to ZNF335 deficiency
Microcephalic cortical malformations-short stature due to RTTN deficiency
DONSON-related microcephaly-short stature-limb abnormalities spectrum
Microcephaly-short stature-limb abnormalities syndrome
Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome
Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome
Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome
Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome
Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome
Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome
Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome
Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome
Intellectual disability-early-onset cataract-microcephaly syndrome
Other syndrome with a central nervous system malformation as a major feature
Duane retraction syndrome with congenital deafness
Horizontal gaze palsy with progressive scoliosis
Hydrocephaly-low insertion umbilicus syndrome
Holoprosencephaly-caudal dysgenesis syndrome
Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome
Macrocephaly-intellectual disability-autism syndrome
Polymicrogyria with optic nerve hypoplasia
Porencephaly-microcephaly-bilateral congenital cataract syndrome
Cataract-congenital heart disease-neural tube defect syndrome
Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome
Thoracic dysplasia-hydrocephalus syndrome
KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome
Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome
Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation
Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome
Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome
Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome
Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome
Non-syndromic respiratory or mediastinal malformation
Congenital pulmonary airway malformation
Congenital pulmonary airway malformation type 0
Congenital pulmonary airway malformation type 1
Congenital pulmonary airway malformation type 2
Congenital pulmonary airway malformation type 3
Congenital pulmonary airway malformation type 4
Intralobar congenital pulmonary sequestration
Extralobar congenital pulmonary sequestration
Communicating congenital bronchopulmonary-foregut malformation
Congenital high airway obstruction syndrome
Non-syndromic congenital bronchial atresia
Syndromic respiratory or mediastinal malformation
Lung agenesis-heart defect-thumb anomalies syndrome
Lethal congenital contracture syndrome type 1
Growth delay-hydrocephaly-lung hypoplasia syndrome
Hemihyperplasia-multiple lipomatosis syndrome
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Capillary-lymphatic-venous malformation with segmental distribution
Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome
Rare disorder with optic disc malformation
Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
Isolated ankyloblepharon filiforme adnatum
Syndromic ankyloblepharon filiforme adnatum
Autosomal dominant popliteal pterygium syndrome
Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome
Ankyloblepharon filiforme adnatum-cleft palate syndrome
Ankyloblepharon filiforme adnatum-imperforate anus syndrome
Microphthalmia-ankyloblepharon-intellectual disability syndrome
Oculogastrointestinal muscular dystrophy
Camptodactyly-joint contractures-facial skeletal defects syndrome
Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome
Ptosis-strabismus-ectopic pupils syndrome
Mitochondrial DNA-related progressive external ophthalmoplegia
Mitochondrial neurogastrointestinal encephalomyopathy
Ubiquitously expressed proteins associated congenital myasthenic syndrome
Congenital myasthenic syndrome with glycosylation defect
Congenital myasthenic syndrome with mitochondrial defect
Postsynaptic congenital myasthenic syndrome
Congenital myasthenic syndrome with kinetic defect
Fast-channel congenital myasthenic syndrome
Slow-channel congenital myasthenic syndrome
Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance
Congenital myasthenic syndrome with primary acetylcholine receptor deficiency
Congenital myasthenic syndrome due to a sodium channel 1.4 defect
Congenital myasthenic syndrome due to defects in endplate development and maintenance
Presynaptic congenital myasthenic syndromes
Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis
Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis
Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis
Congenital myasthenic syndromes due to defective axonal transport
Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine
Congenital fibrosis of extraocular muscles
Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
Blepharophimosis-ptosis-epicanthus inversus syndrome
Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
Blepharophimosis-intellectual disability syndrome
SMARCA2-related blepharophimosis-intellectual disability syndrome
Blepharophimosis-intellectual disability syndrome, Ohdo type
Blepharophimosis-intellectual disability syndrome, SBBYS type
Blepharophimosis-intellectual disability syndrome, MKB type
Blepharophimosis-intellectual disability syndrome, Verloes type
ADNP-related blepharophimosis-intellectual disability syndrome
Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
Xeroderma pigmentosum-Cockayne syndrome complex
Autosomal recessive congenital ichthyosis
Congenital cataracts-facial dysmorphism-neuropathy syndrome
Oculocerebrofacial syndrome, Kaufman type
Familial congenital nasolacrimal duct obstruction
Isolated microphthalmia-anophthalmia-coloboma
Syndromic microphthalmia-anophthalmia-coloboma
Microphthalmia with brain and digit anomalies
Oculoauricular syndrome, Schorderet type
Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome
Colobomatous microphthalmia-rhizomelic dysplasia syndrome
X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome
Macrosomia-microphthalmia-cleft palate syndrome
Microphthalmia-microtia-fetal akinesia syndrome
Colobomatous macrophthalmia-microcornea syndrome
Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome
High myopia-sensorineural deafness syndrome
Anterior segment developmental anomaly without extraocular manifestations
Bilateral acute depigmentation of the iris
Autosomal recessive anterior segment dysgenesis
Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome
Anterior segment developmental anomaly with extraocular manifestations
Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome
Uveal coloboma-cleft lip and palate-intellectual disability
Aniridia-cerebellar ataxia-intellectual disability syndrome
Aniridia-ptosis-intellectual disability-familial obesity syndrome
Aniridia-intellectual disability syndrome
Early-onset posterior subcapsular cataract
Microspherophakia-metaphyseal dysplasia syndrome
Ichthyosis-short stature-brachydactyly-microspherophakia syndrome
Autosomal dominant vitreoretinochoroidopathy
Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome
Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
Blindness-scoliosis-arachnodactyly syndrome
Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
Blepharoptosis-myopia-ectopia lentis syndrome
Epidermolysis bullosa simplex with anodontia/hypodontia
Homocystinuria due to cystathionine beta-synthase deficiency
Encephalopathy due to sulfite oxidase deficiency
Sulfite oxidase deficiency due to molybdenum cofactor deficiency
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B
Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C
X-linked Alport syndrome-diffuse leiomyomatosis
Coloboma of macula-brachydactyly type B syndrome
Macular coloboma-cleft palate-hallux valgus syndrome
Congenital malformation of the eye with glaucoma as a major feature
Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
Posterior polymorphous corneal dystrophy
Rare isolated developmental choroidal disorder
Stellate multiform amelanotic choroidopathy
Developmental anomaly of metabolic origin
X-linked dominant chondrodysplasia punctata
Hyperimmunoglobulinemia D with periodic fever
Microcephaly-congenital cataract-psoriasiform dermatitis syndrome
Pseudohypoparathyroidism without Albright hereditary osteodystrophy
Pseudohypoparathyroidism with Albright hereditary osteodystrophy
Congenital disorder of glycosylation with developmental anomaly
Multiple congenital anomalies-hypotonia-seizures syndrome
Multiple congenital anomalies-hypotonia-seizures syndrome type 2
Autism spectrum disorder-epilepsy-arthrogryposis syndrome
Congenital disorder of glycosylation-related bone disorder
Autosomal recessive spondylocostal dysostosis
B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome
Hyperphosphatasia-intellectual disability syndrome
B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome
Congenital disorder of glycosylation with deafness as a major feature
Genetic inflammatory or rheumatoid-like osteoarthropathy
Sterile multifocal osteomyelitis with periostitis and pustulosis
Familial normophosphatemic tumoral calcinosis
Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome
Overgrowth or tall stature syndrome with skeletal involvement
X-linked severe syndromic thoracic aortic aneurysm and dissection
PRC-2 complex-related overgrowth spectrum
Overgrowth syndrome with 2q37 translocation
Tall stature-long halluces-multiple extra-epiphyses syndrome
Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome
Chondrodysplasia-difference of sex development syndrome
Severe achondroplasia-developmental delay-acanthosis nigricans syndrome
Otopalatodigital syndrome spectrum disorder
Short stature-advanced bone age-early-onset osteoarthritis syndrome
Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia
Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
MGP-related spondyloepiphyseal dysplasia
Autosomal recessive otospondylomegaepiphyseal dysplasia
Dyssegmental dysplasia, Silverman-Handmaker type
Spondyloperipheral dysplasia-short ulna syndrome
Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome
Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
Spondyloepimetaphyseal dysplasia, PAPSS2 type
Spondyloepiphyseal dysplasia, Kimberley type
Spondyloepimetaphyseal dysplasia congenita, Strudwick type
X-linked spondyloepimetaphyseal dysplasia
Spondyloepimetaphyseal dysplasia, Irapa type
Spondyloepimetaphyseal dysplasia, Shohat type
Spondyloepimetaphyseal dysplasia, Missouri type
Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
Spondyloepimetaphyseal dysplasia, Handigodu type
Spondyloepiphyseal dysplasia with metatarsal shortening
Spondyloepimetaphyseal dysplasia, matrilin-3 type
Dyssegmental dysplasia, Rolland-Desbuquois type
SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome
Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome
Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome
Spondyloepiphyseal dysplasia, Reardon type
Spondyloepiphyseal dysplasia tarda, Kohn type
Spondyloepiphyseal dysplasia, MacDermot type
Autosomal dominant otospondylomegaepiphyseal dysplasia
Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome
Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome
Spondyloepimetaphyseal dysplasia, Geneviève type
Spondyloepimetaphyseal dysplasia, aggrecan type
Spondylo-megaepiphyseal-metaphyseal dysplasia
Spondyloepimetaphyseal dysplasia, Maroteaux type
Spondyloepimetaphyseal dysplasia, Isidor-Toutain type
Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome
Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome
Spondyloepiphyseal dysplasia, Stanescu type
Regressive spondylometaphyseal dysplasia
Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome
Spondylometaphyseal dysplasia, Kozlowski type
Spondylometaphyseal dysplasia, 'corner fracture' type
Spondylometaphyseal dysplasia, Schmidt type
Spondylometaphyseal dysplasia, Golden type
Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome
Ciliopathies with major skeletal involvement
Short rib-polydactyly syndrome, Beemer-Langer type
Short rib-polydactyly syndrome, Majewski type
Joubert syndrome with Jeune asphyxiating thoracic dystrophy
Multiple epiphyseal dysplasia and pseudoachondroplasia
Multiple epiphyseal dysplasia due to collagen 9 anomaly
Multiple epiphyseal dysplasia, Lowry type
Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome
Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome
Multiple epiphyseal dysplasia-miniepiphyses syndrome
Metaphyseal chondrodysplasia, Schmid type
Metaphyseal chondrodysplasia, Rosenberg type
Metaphyseal chondrodysplasia, Spahr type
Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome
Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome
Metaphyseal chondrodysplasia, Jansen type
Metaphyseal chondrodysplasia, Kaitila type
Brachyolmia-amelogenesis imperfecta syndrome
Spondylometaphyseal dysplasia, Sedaghatian type
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome
SBDS-related severe neonatal spondylometaphyseal dysplasia
Short stature-brachydactyly-obesity-global developmental delay syndrome
MIR140-related spondyloepiphyseal dysplasia
Intellectual disability-balding-patella luxation-acromicria syndrome
Angel-shaped phalango-epiphyseal dysplasia
Terminal osseous dysplasia-pigmentary defects syndrome
Acromesomelic dysplasia, Hunter-Thompson type
Fibular aplasia-complex brachydactyly syndrome
Upper limb mesomelic dysplasia, type Fryns
Mesomelic dwarfism-cleft palate-camptodactyly syndrome
Mesomelic dwarfism, Reinhardt-Pfeiffer type
Rhizomelic dysplasia, Patterson-Lowry type
Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome
Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
QRICH1-related intellectual disability-chondrodysplasia syndrome
Mesomelic dysplasia-digital anomalies-intellectual disability syndrome
Campomelic dysplasia and related disorders
Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
Autosomal recessive Kenny-Caffey syndrome
Autosomal dominant Kenny-Caffey syndrome
Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
Thin ribs-tubular bones-dysmorphism syndrome
Lipodystrophy-intellectual disability-deafness syndrome
Primary bone dysplasia with multiple joint dislocations
Larsen-like osseous dysplasia-short stature syndrome
Chondrodysplasia with joint dislocations, gPAPP type
Severe myopia-generalized joint laxity-short stature syndrome
Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
Rhizomelic chondrodysplasia punctata type 3
Rhizomelic chondrodysplasia punctata type 1
Rhizomelic chondrodysplasia punctata type 2
Rhizomelic chondrodysplasia punctata type 5
Non-rhizomelic chondrodysplasia punctata
Brachytelephalangic chondrodysplasia punctata
Chondrodysplasia punctata, tibial-metacarpal type
Chondrodysplasia punctata, Toriello type
Primary bone dysplasia with increased bone density
Craniofacial dysostosis-diaphyseal hyperplasia syndrome
Osteopathia striata-pigmentary dermopathy-white forelock syndrome
Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type
Dysplastic cortical hyperostosis, Al-Gazali type
Osteopetrosis-hypogammaglobulinemia syndrome
Osteopetrosis with renal tubular acidosis
Autosomal recessive malignant osteopetrosis
Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome
Infantile osteopetrosis with neuroaxonal dysplasia
Early-onset calcifying leukoencephalopathy-skeletal dysplasia
Osteosclerosis-ichthyosis-premature ovarian failure syndrome
Diaphyseal medullary stenosis-bone malignancy syndrome
Craniometadiaphyseal dysplasia, wormian bone type
Metaphyseal dysplasia, Braun-Tinschert type
Mixed sclerosing bone dystrophy with extra-skeletal manifestations
Primary bone dysplasia with decreased bone density
Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
Osteopenia-intellectual disability-sparse hair syndrome
Osteoporosis-oculocutaneous hypopigmentation syndrome
Calvarial doughnut lesions-bone fragility syndrome
Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia
Ehlers-Danlos/osteogenesis imperfecta syndrome
Chondroectodermal dysplasia with night blindness
Classical-like Ehlers-Danlos syndrome type 2
Primary bone dysplasia with defective bone mineralization
Neonatal severe primary hyperparathyroidism
Familial hypocalciuric hypercalcemia type 1
Familial hypocalciuric hypercalcemia type 2
Familial hypocalciuric hypercalcemia type 3
Ossification anomalies-psychomotor developmental delay syndrome
Dominant hypophosphatemia with nephrolithiasis or osteoporosis
Autosomal dominant hypophosphatemic rickets
Hereditary hypophosphatemic rickets with hypercalciuria
Autosomal recessive hypophosphatemic rickets
Hypocalcemic vitamin D-resistant rickets
Hypocalcemic vitamin D-dependent rickets
Familial calcium pyrophosphate deposition
Mandibuloacral dysplasia associated to MTX2
Epiphyseal stippling-osteoclastic hyperplasia syndrome
Mandibuloacral dysplasia with type A lipodystrophy
Mandibuloacral dysplasia with type B lipodystrophy
Autosomal recessive distal osteolysis syndrome
Multicentric osteolysis-nodulosis-arthropathy spectrum
Primary bone dysplasia with disorganized development of skeletal components
Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion
Fibrous dysplasia/McCune-Albright syndrome
Exostoses-anetodermia-brachydactyly type E syndrome
Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria
Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments
Congenital pseudoarthrosis of the clavicle
Dysostosis with predominant craniofacial involvement
Craniofrontonasal dysplasia-Poland anomaly syndrome
Frontonasal dysplasia-alopecia-genital anomalies syndrome
Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome
Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome
Oculoauriculovertebral spectrum with radial defects
Mandibulofacial dysostosis with alopecia
Otomandibular dysplasia associated with monogenic syndromes
Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome
Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
Dysostosis with predominant vertebral and costal involvement
Ankylosing vertebral hyperostosis with tylosis
Imperforate oropharynx-costovertebral anomalies syndrome
Pelvic dysplasia-arthrogryposis of lower limbs syndrome
Autosomal dominant spondylocostal dysostosis
Progressive non-infectious anterior vertebral fusion
Camptodactyly-tall stature-scoliosis-hearing loss syndrome
Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders
Familial clubfoot due to PITX1 point mutation
KAT6B-related multiple congenital anomalies syndrome
Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
Dysostosis with limb anomaly as a major feature
Camptodactyly syndrome, Guadalajara type 3
Ectrodactyly with and without other manifestations
Isolated split hand-split foot malformation
Dysostosis with brachydactyly without extraskeletal manifestations
Preaxial digit brachydactyly-webbed fingers
Familial digital arthropathy-brachydactyly
Brachydactyly-elbow wrist dysplasia syndrome
Dysostosis with brachydactyly with extraskeletal manifestations
Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
Brachydactyly-short stature-retinitis pigmentosa syndrome
Brachydactyly-arterial hypertension syndrome
Thumb stiffness-brachydactyly-intellectual disability syndrome
Brachydactyly-preaxial hallux varus syndrome
Brachymorphism-onychodysplasia-dysphalangism syndrome
Skeletal dysplasia-epilepsy-short stature syndrome
Ulnar/fibula ray defect-brachydactyly syndrome
Brachytelephalangy-dysmorphism-Kallmann syndrome
Non-syndromic terminal transverse limb defect
Isolated absence/hypoplasia of fingers excluding thumb, unilateral
Isolated absence of both lower leg and foot
Isolated absence of both forearm and hand
Isolated absence of upper arm and forearm with hand present
Isolated absence of thigh and lower leg with foot present
Isolated proximal femoral focal deficiency
Non-syndromic polydactyly, syndactyly and/or hyperphalangy
Polydactyly of a biphalangeal thumb and/or hallux
Mesoaxial synostotic syndactyly with phalangeal reduction
Syndrome with synostosis or other joint formation defect
Symphalangism with multiple anomalies of hands and feet
Radioulnar synostosis-microcephaly-scoliosis syndrome
Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome
Congenital pseudoarthrosis of the fibula
Congenital pseudoarthrosis of the radius
Familial clubfoot with or without associated lower limb anomalies
Familial clubfoot due to 17q23.1q23.2 microduplication
Familial clubfoot due to 5q31 microdeletion
Split-foot malformation-mesoaxial polydactyly syndrome
Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome
Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome
Aphalangy-syndactyly-microcephaly syndrome
Ulna hypoplasia-intellectual disability syndrome
Absence deformity of leg-cataract syndrome
Absent radius-anogenital anomalies syndrome
Tetraamelia-multiple malformations syndrome
Absent tibia-polydactyly-arachnoid cyst syndrome
Thrombocythemia with distal limb defects
Intellectual disability-spasticity-ectrodactyly syndrome
Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome
Combined immunodeficiency with facio-oculo-skeletal anomalies
Camptodactyly syndrome, Guadalajara type 2
Dysostosis with combined reduction defects of upper and lower limbs
Radial deficiency-tibial hypoplasia syndrome
Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy
Greig cephalopolysyndactyly-contiguous gene syndrome
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome
Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
Scalp defects-postaxial polydactyly syndrome
Hallux varus-preaxial polysyndactyly syndrome
Triphalangeal thumbs-brachyectrodactyly syndrome
Mirror polydactyly-vertebral segmentation-limbs defects syndrome
Syndactyly-polydactyly-ear lobe syndrome
Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome
Dysostosis with limb and face anomalies as a major feature
Endocrine-cerebro-osteodysplasia syndrome
Acrofacial dysostosis, Kennedy-Teebi type
Mandibulofacial dysostosis-microcephaly syndrome
External auditory canal atresia-vertical talus-hypertelorism syndrome
Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome
Malformation syndrome with short stature
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7
Silver-Russell syndrome due to 7p11.2p13 microduplication
Silver-Russell syndrome due to an imprinting defect of 11p15
Silver-Russell syndrome due to 11p15 microduplication
Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
Silver-Russell syndrome due to a point mutation
Autosomal recessive faciodigitogenital syndrome
Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
Short stature-optic atrophy-Pelger-Huët anomaly syndrome
Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
X-linked intellectual disability-short stature-overweight syndrome
Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome
Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome
X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability
Hydrocephalus-obesity-hypogonadism syndrome
Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome
Congenital generalized hypercontractile muscle stiffness syndrome
Aplastic anemia-intellectual disability-dwarfism syndrome
RNU4-2-related autosomal dominant neurodevelopmental disorder
KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome
Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome
Overgrowth-macrocephaly-facial dysmorphism syndrome
Hypoinsulinemic hypoglycemia and body hemihypertrophy
Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
Megalencephaly-severe kyphoscoliosis-overgrowth syndrome
Megalencephaly-capillary malformation-polymicrogyria syndrome
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Congenital infiltrating lipomatosis of the face
Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15
Prader-Willi syndrome due to paternal 15q11q13 deletion
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1
Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2
Prader-Willi syndrome due to translocation
Prader-Willi syndrome due to imprinting mutation
Symptomatic form of Coffin-Lowry syndrome in female carriers
Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
Intellectual disability-seizures-macrocephaly-obesity syndrome
Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome
Early-onset obesity-hyperphagia-severe developmental delay syndrome
Temple syndrome due to maternal uniparental disomy of chromosome 14
Temple syndrome due to paternal 14q32.2 microdeletion
Temple syndrome due to paternal 14q32.2 hypomethylation
Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome
PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome
Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
MYT1L-related developmental delay-intellectual disability-obesity syndrome
Rare developmental defect with skin/mucosae involvement
Aplasia cutis congenita-intestinal lymphangiectasia syndrome
Ichthyosis-oral and digital anomalies syndrome
Ichthyosis follicularis-alopecia-photophobia syndrome
Progeria-short stature-pigmented nevi syndrome
Familial articular hypermobility syndrome
Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome
Epidermolysis bullosa simplex with muscular dystrophy
Junctional epidermolysis bullosa with pyloric atresia
Severe generalized junctional epidermolysis bullosa
Junctional epidermolysis bullosa inversa
Late-onset junctional epidermolysis bullosa
Localized junctional epidermolysis bullosa
Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome
Intermediate generalized junctional epidermolysis bullosa
Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Recessive dystrophic epidermolysis bullosa inversa
Localized dystrophic epidermolysis bullosa
Localized dystrophic epidermolysis bullosa, pretibial form
Localized dystrophic epidermolysis bullosa, acral form
Localized dystrophic epidermolysis bullosa, nails only
Self-improving dystrophic epidermolysis bullosa
Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form
Dystrophic epidermolysis bullosa pruriginosa
Autosomal dominant generalized dystrophic epidermolysis bullosa
Arthrogryposis-ectodermal dysplasia syndrome
Alopecia-contractures-dwarfism-intellectual disability syndrome
Autosomal dominant palmoplantar keratoderma and congenital alopecia
Cerebellar ataxia-ectodermal dysplasia syndrome
Autosomal recessive palmoplantar keratoderma and congenital alopecia
Cataract-hypertrichosis-intellectual disability syndrome
Contractures-ectodermal dysplasia-cleft lip/palate syndrome
Hypotrichosis with juvenile macular degeneration
Thumb deformity-alopecia-pigmentation anomaly syndrome
Hidrotic ectodermal dysplasia, Christianson-Fourie type
Hidrotic ectodermal dysplasia, Halal type
Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome
Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome
Ectodermal dysplasia-sensorineural deafness syndrome
Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome
Ectodermal dysplasia, trichoodontoonychial type
Gingival fibromatosis-hypertrichosis syndrome
Congenital generalized hypertrichosis, Ambras type
X-linked congenital generalized hypertrichosis
Pyramidal molars-abnormal upper lip syndrome
Odonto-onycho dysplasia-alopecia syndrome
Pilodental dysplasia-refractive errors syndrome
Deafness-enamel hypoplasia-nail defects syndrome
Autosomal dominant deafness-onychodystrophy syndrome
Conductive deafness-ptosis-skeletal anomalies syndrome
Trichodermodysplasia-dental alterations syndrome
Trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Odonto-tricho-ungual-digito-palmar syndrome
Ectodermal dysplasia with natal teeth, Turnpenny type
Naegeli-Franceschetti-Jadassohn syndrome
Trichodysplasia-amelogenesis imperfecta syndrome
Ectodermal dysplasia-skin fragility syndrome
X-linked hypohidrotic ectodermal dysplasia
Autosomal recessive hypohidrotic ectodermal dysplasia
Autosomal dominant hypohidrotic ectodermal dysplasia
Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome
Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome
Curly hair-acral keratoderma-caries syndrome
Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome
Cleft lip/palate-ectodermal dysplasia syndrome
Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
Skin fragility-woolly hair-palmoplantar keratoderma syndrome
Hypotrichosis-intellectual disability, Lopes type
Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome
Hypohidrotic ectodermal dysplasia with immunodeficiency
Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency
Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency
Spondylodysplastic Ehlers-Danlos syndrome
Vascular Ehlers-Danlos-polymicrogyria syndrome
PCNA-related progressive neurodegenerative photosensitivity syndrome
Rare developmental defect with connective tissue involvement
Connective tissue disorder due to lysyl hydroxylase-3 deficiency
Marfanoid habitus-inguinal hernia-advanced bone age syndrome
Congenital generalized lipodystrophy type 2
PPARG-associated congenital generalized lipodystrophy
Congenital generalized lipodystrophy type 3
Congenital generalized lipodystrophy type 1
Congenital generalized lipodystrophy type 4
Familial partial lipodystrophy, Dunnigan type
Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome
Acroosteolysis-keloid-like lesions-premature aging syndrome
Progeroid features-hepatocellular carcinoma predisposition syndrome
Wormian bones-micrognathia-abnormal dentition-progeroid syndrome
Hypertelorism-microtia-facial clefting syndrome
Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
Malformation syndrome with odontal and/or periodontal component
Oculocerebral hypopigmentation syndrome, Preus type
SATB2-associated syndrome due to a chromosomal rearrangement
SATB2-associated syndrome due to a pathogenic variant
Steroid dehydrogenase deficiency-dental anomalies syndrome
Cleft palate-stapes fixation-oligodontia syndrome
Gingival fibromatosis-facial dysmorphism syndrome
Gingival fibromatosis-progressive deafness syndrome
Oculocerebral hypopigmentation syndrome, Cross type
Odontomatosis-aortae esophagus stenosis syndrome
Postaxial polydactyly-dental and vertebral anomalies syndrome
Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome
Steatocystoma multiplex-natal teeth syndrome
Anterior maxillary protrusion-strabismus-intellectual disability syndrome
Malformative syndrome with dentinogenesis imperfecta
Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome
Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome
Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
Congenital unilateral hypoplasia of depressor anguli oris
Rare otorhinolaryngological malformation
Cysts and fistulae of the face and oral cavity
Isolated digestive duplication cyst of the tongue
Pinnae and external auditory canal anomaly
External auditory canal aplasia/hypoplasia
X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome
Lymphedema-posterior choanal atresia syndrome
Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
Blepharonasofacial malformation syndrome
Radial ray hypoplasia-choanal atresia syndrome
Intractable diarrhea-choanal atresia-eye anomalies syndrome
Isolated congenital nasal pyriform aperture stenosis
Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
Isolated congenital cholesteatoma of the middle ear
Isolated congenital auditory ossicle malformation
Median cleft of the upper lip and maxilla
Familial median cleft of the upper and lower lips
Isolated congenital hypoglossia/aglossia
Syndrome or malformation associated with head and neck malformations
Arthrogryposis multiplex congenita-whistling face syndrome
Multiple pterygium-malignant hyperthermia syndrome
Adducted thumbs-arthrogryposis syndrome, Christian type
Pierre Robin syndrome associated with collagen disease
Pierre Robin syndrome associated with a chromosomal anomaly
Contractures-developmental delay-Pierre Robin syndrome
Pierre Robin syndrome associated with branchial archs anomalies
Pierre Robin syndrome associated with bone disease
Maternal hyperthermia-induced birth defects
Aminopterin/methotrexate embryofetopathy
Intellectual disability-brachydactyly-Pierre Robin syndrome
Cleft lip/palate-intestinal malrotation-cardiopathy syndrome
Cleft lip/palate-deafness-sacral lipoma syndrome
Cleft palate-large ears-small head syndrome
Dysraphism-cleft lip/palate-limb reduction defects syndrome
Microbrachycephaly-ptosis-cleft lip syndrome
Microcephaly-cleft palate-abnormal retinal pigmentation syndrome
Pierre Robin syndrome-faciodigital anomaly syndrome
Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome
Cleft palate-short stature-vertebral anomalies syndrome
Dysmorphism-cleft palate-loose skin syndrome
Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome
Bilateral microtia-deafness-cleft palate syndrome
Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome
Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome
Partial autosomal duplication/triplication syndrome
Partial duplication of chromosome 1 syndrome
Partial duplication of the long arm of chromosome 1 syndrome
Partial duplication of the short arm of chromosome 1 syndrome
Partial duplication of chromosome 2 syndrome
Partial duplication of the short arm of chromosome 2 syndrome
Partial duplication of the long arm of chromosome 2 syndrome
Syndactyly-nystagmus syndrome due to 2q31.1 microduplication
Partial duplication of chromosome 3 syndrome
Partial duplication of the short arm of chromosome 3 syndrome
Partial duplication of the long arm of chromosome 3 syndrome
Partial duplication of chromosome 4 syndrome
Partial duplication of the short arm of chromosome 4 syndrome
Partial duplication of the long arm of chromosome 4 syndrome
Partial duplication/triplication of chromosome 5 syndrome
Partial duplication/triplication of the short arm of chromosome 5 syndrome
Partial duplication of the long arm of chromosome 5 syndrome
Adult-onset autosomal dominant leukodystrophy
Partial duplication of chromosome 6 syndrome
Partial duplication of the short arm of chromosome 6 syndrome
Partial duplication of the long arm of chromosome 6 syndrome
Partial duplication of chromosome 7 syndrome
Partial duplication of the short arm of chromosome 7 syndrome
Partial duplication of the long arm of chromosome 7 syndrome
Distal 7q11.23 microduplication syndrome
Partial duplication of chromosome 8 syndrome
Partial duplication of the short arm of chromosome 8 syndrome
Partial duplication of the long arm of chromosome 8 syndrome
Partial duplication/triplication of chromosome 9 syndrome
Partial duplication/triplication of the short arm of chromosome 9 syndrome
Partial duplication of the long arm of chromosome 9 syndrome
Partial duplication of chromosome 10 syndrome
Partial duplication of the short arm of chromosome 10 syndrome
Partial duplication of the long arm of chromosome 10 syndrome
Distal limb deficiencies-micrognathia syndrome
Partial duplication of chromosome 11 syndrome
Partial duplication of the short arm of chromosome 11 syndrome
Partial duplication of the long arm of chromosome 11 syndrome
Partial duplication/triplication of the short arm of chromosome 12 syndrome
Partial duplication of chromosome 16 syndrome
Partial duplication of the short arm of chromosome 16 syndrome
Proximal 16p11.2 microduplication syndrome
Partial duplication of the long arm of chromosome 16 syndrome
Partial duplication of chromosome 17 syndrome
Partial duplication of the short arm of chromosome 17 syndrome
Partial duplication of the long arm of chromosome 17 syndrome
PMP22-RAI1 contiguous gene duplication syndrome
Partial duplication/triplication of chromosome 18 syndrome
Partial duplication/triplication of the short arm of chromosome 18 syndrome
Partial duplication of the long arm of chromosome 18 syndrome
Partial duplication of chromosome 19 syndrome
Partial duplication of the long arm of chromosome 19 syndrome
Partial duplication of the short arm of chromosome 19 syndrome
Partial duplication of chromosome 20 syndrome
Partial duplication of the long arm of chromosome 20 syndrome
Partial duplication of the long arm of chromosome 13 syndrome
Partial duplication of the long arm of chromosome 14 syndrome
Partial duplication of the long arm of chromosome 15 syndrome
Partial duplication of the long arm of chromosome 22 syndrome
Distal 22q11.2 microduplication syndrome
Maternal uniparental disomy of chromosome 2 syndrome
Maternal uniparental disomy of chromosome 4 syndrome
Maternal uniparental disomy of chromosome 6 syndrome
Maternal uniparental disomy of chromosome 9 syndrome
Maternal uniparental disomy of chromosome 20 syndrome
Maternal uniparental disomy of chromosome 21 syndrome
Maternal uniparental disomy of chromosome 22 syndrome
Maternal uniparental disomy of chromosome 13 syndrome
Maternal uniparental disomy of chromosome 1 syndrome
Paternal uniparental disomy of chromosome 5 syndrome
Paternal uniparental disomy of chromosome 6 syndrome
Paternal uniparental disomy of chromosome 7 syndrome
Paternal uniparental disomy of chromosome 20 syndrome
Paternal uniparental disomy of chromosome 21 syndrome
Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14
Angelman syndrome due to paternal uniparental disomy of chromosome 15
Paternal uniparental disomy of chromosome 13 syndrome
Paternal uniparental disomy of chromosome 1 syndrome
Mosaic genome-wide paternal uniparental disomy syndrome
Partial deletion of chromosome 1 syndrome
Partial deletion of the short arm of chromosome 1 syndrome
Partial deletion of the long arm of chromosome 1 syndrome
Partial deletion of chromosome 2 syndrome
Partial deletion of the short arm of chromosome 2 syndrome
2p21 microdeletion syndrome without cystinuria
Partial deletion of the long arm of chromosome 2 syndrome
Partial deletion of chromosome 3 syndrome
Partial deletion of the short arm of chromosome 3 syndrome
Partial deletion of the long arm of chromosome 3 syndrome
Partial deletion of chromosome 4 syndrome
Partial deletion of the short arm of chromosome 4 syndrome
Partial deletion of the long arm of chromosome 4 syndrome
Partial deletion of chromosome 5 syndrome
Partial deletion of the short arm of chromosome 5 syndrome
Partial deletion of the long arm of chromosome 5 syndrome
Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
Partial deletion of chromosome 6 syndrome
Partial deletion of the short arm of chromosome 6 syndrome
Partial deletion of the long arm of chromosome 6 syndrome
Partial deletion of chromosome 7 syndrome
Partial deletion of the short arm of chromosome 7 syndrome
Partial deletion of the long arm of chromosome 7 syndrome
Partial deletion of chromosome 8 syndrome
Partial deletion of the short arm of chromosome 8 syndrome
Partial deletion of the long arm of chromosome 8 syndrome
Partial deletion of chromosome 9 syndrome
Partial deletion of the short arm of chromosome 9 syndrome
Partial deletion of the long arm of chromosome 9 syndrome
Kleefstra syndrome due to 9q34 microdeletion
Partial deletion of chromosome 10 syndrome
Partial deletion of the short arm of chromosome 10 syndrome
ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion
Partial deletion of the long arm of chromosome 10 syndrome
Partial deletion of chromosome 11 syndrome
Partial deletion of the short arm of chromosome 11 syndrome
Partial deletion of the long arm of chromosome 11 syndrome
Partial deletion of chromosome 16 syndrome
Partial deletion of the short arm of chromosome 16 syndrome
Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis
Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16
Hao-Fountain syndrome due to 16p13.2 microdeletion
Partial deletion of the long arm of chromosome 16 syndrome
Partial deletion of chromosome 17 syndrome
Partial deletion of the short arm of chromosome 17 syndrome
Hereditary neuropathy with liability to pressure palsies
Partial deletion of the long arm of chromosome 17 syndrome
Partial deletion of chromosome 18 syndrome
Partial deletion of the short arm of chromosome 18 syndrome
Partial deletion of the long arm of chromosome 18 syndrome
Partial deletion of chromosome 19 syndrome
Partial deletion of the short arm of chromosome 19 syndrome
Partial deletion of the long arm of chromosome 19 syndrome
Partial deletion of chromosome 20 syndrome
Partial deletion of the short arm of chromosome 20 syndrome
Partial deletion of the long arm of chromosome 20 syndrome
Paternal 20q13.2q13.3 microdeletion syndrome
Partial deletion of the long arm of chromosome 13 syndrome
Partial deletion of the long arm of chromosome 14 syndrome
Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion
FOXG1 syndrome due to 14q12 microdeletion
Partial deletion of the long arm of chromosome 15 syndrome
Angelman syndrome due to maternal 15q11q13 deletion
Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion
Partial deletion of the long arm of chromosome 21 syndrome
DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
Partial deletion of the long arm of chromosome 22 syndrome
Phelan-McDermid syndrome due to 22q13.3 deletion
Partial deletion of chromosome 12 syndrome
Partial deletion of the long arm of chromosome 12 syndrome
Partial deletion of the short arm of chromosome 12 syndrome
Complex chromosomal rearrangement syndrome
Inverted duplicated chromosome 15 syndrome
8p inverted duplication/deletion syndrome
X chromosome number anomaly with female phenotype syndrome
X chromosome number anomaly with male phenotype syndrome
Sex-chromosome structural anomaly syndrome
Chromosome Y structural anomaly syndrome
Chromosome X structural anomaly syndrome
Partial deletion of chromosome X syndrome
Partial deletion of the short arm of the chromosome X syndrome
X-linked intellectual disability-retinitis pigmentosa syndrome
Atypical Norrie disease due to Xp11.3 microdeletion
Partial deletion of the long arm of chromosome X syndrome
Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome
X-linked myotubular myopathy-abnormal genitalia syndrome
Partial duplication of chromosome X syndrome
Partial duplication of the short arm of chromosome X syndrome
Partial duplication of the long arm of chromosome X syndrome
Uniparental disomy of chromosome X syndrome
Maternal uniparental disomy of chromosome X syndrome
Paternal uniparental disomy of chromosome X syndrome
Multiple congenital anomalies/dysmorphic syndrome
Lethal multiple congenital anomalies/dysmorphic syndrome
Lethal polymalformative syndrome, Boissel type
Multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Spastic paraplegia-severe developmental delay-epilepsy syndrome
Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome
Angelman syndrome due to imprinting defect in 15q11-q13
Angelman syndrome due to a point mutation
Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
S-adenosylhomocysteine hydrolase deficiency
X-linked intellectual disability, Schimke type
X-linked intellectual disability, Stocco Dos Santos type
X-linked intellectual disability-macrocephaly-macroorchidism syndrome
X-linked intellectual disability, Seemanova type
X-linked intellectual disability, Shrimpton type
X-linked intellectual disability-acromegaly-hyperactivity syndrome
X-linked intellectual disability, Nascimento type
X-linked intellectual disability, Cilliers type
X-linked intellectual disability, Van Esch type
X-linked intellectual disability-craniofacioskeletal syndrome
Intellectual disability-strabismus syndrome
Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome
Microcephaly-thin corpus callosum-intellectual disability syndrome
FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome
Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
Brachydactyly-nystagmus-cerebellar ataxia syndrome
X-linked creatine transporter deficiency
Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome
Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome
X-linked intellectual disability, Abidi type
Syndromic X-linked intellectual disability 7
X-linked intellectual disability, Armfield type
KDM5C-related syndromic X-linked intellectual disability
X-linked intellectual disability-cubitus valgus-dysmorphism syndrome
X-linked intellectual disability, Shashi type
X-linked intellectual disability, Siderius type
X-linked intellectual disability, Cabezas type
X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome
X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome
Deafness-intellectual disability syndrome, Martin-Probst type
X-linked intellectual disability, Pai type
X-linked intellectual disability, Stevenson type
X-linked intellectual disability, Stoll type
X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome
Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia
Syndromic multisystem autoimmune disease due to Itch deficiency
Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation
Kleefstra syndrome due to a point mutation
Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
Autism spectrum disorder due to AUTS2 deficiency
Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome
CTCF-related neurodevelopmental disorder
Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome
X-linked intellectual disability due to GRIA3 mutations
Intellectual disability-facial dysmorphism-hand anomalies syndrome
Hypotonia-speech impairment-severe cognitive delay syndrome
Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency
Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency
Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome
Macrocephaly-developmental delay syndrome
Phelan-McDermid syndrome due to SHANK3 mutation
Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
Dysmorphism-conductive hearing loss-heart defect syndrome
Seizures-intellectual disability due to hydroxylysinuria syndrome
Severe X-linked intellectual disability, Gustavson type
Craniodigital-intellectual disability syndrome
Cryptorchidism-arachnodactyly-intellectual disability syndrome
Epiphyseal dysplasia-hearing loss-dysmorphism syndrome
Paraplegia-intellectual disability-hyperkeratosis syndrome
Prominent glabella-microcephaly-hypogenitalism syndrome
Holoprosencephaly-postaxial polydactyly syndrome
Microcephaly-glomerulonephritis-marfanoid habitus syndrome
Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
Hypospadias-intellectual disability, Goldblatt type syndrome
Dysmorphism-short stature-deafness-difference of sex development syndrome
Macrocephaly-spastic paraplegia-dysmorphism syndrome
Marfanoid habitus-autosomal recessive intellectual disability syndrome
Upper limb defect-eye and ear abnormalities syndrome
Microcephaly-deafness-intellectual disability syndrome
Microcephalic primordial dwarfism, Montreal type
Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
Short stature-webbed neck-heart disease syndrome
Preaxial polydactyly-colobomata-intellectual disability syndrome
Pterygium colli-intellectual disability-digital anomalies syndrome
Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome
Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome
Intellectual disability, Buenos-Aires type
Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
X-linked intellectual disability, Porteous type
X-linked intellectual disability, Golabi-Ito-Hall type
X-linked intellectual disability, Sutherland-Haan type
Telecanthus-hypertelorism-strabismus-pes cavus syndrome
Fallot complex-intellectual disability-growth delay syndrome
Brachydactyly-mesomelia-intellectual disability-heart defects syndrome
Facial dysmorphism-shawl scrotum-joint laxity syndrome
Intellectual disability-short stature-hypertelorism syndrome
Arachnodactyly-abnormal ossification-intellectual disability syndrome
Intellectual disability-polydactyly-uncombable hair syndrome
X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome
Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome
RNF13-related severe early-onset epileptic encephalopathy
Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome
Congenital limbs-face contractures-hypotonia-developmental delay syndrome
Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome
SIN3-related intellectual disability syndrome due to a point mutation
Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome
STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome
Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome
X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome
DYRK1A-related intellectual disability syndrome
Intellectual disability syndrome due to a DYRK1A point mutation
Megalocornea-intellectual disability syndrome
X-linked alpha-thalassemia-intellectual disability syndrome
Epilepsy-microcephaly-skeletal dysplasia syndrome
Agnathia-holoprosencephaly-situs inversus syndrome
Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome
Congenital heart defect-round face-developmental delay syndrome
Cataract-intellectual disability-hypogonadism syndrome
Cortical blindness-intellectual disability-polydactyly syndrome
Ataxia-photosensitivity-short stature syndrome
WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome
Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation
Macrocephaly-intellectual disability-left ventricular non compaction syndrome
Hypogonadism-mitral valve prolapse-intellectual disability syndrome
Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation
PLAA-associated neurodevelopmental disorder
Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome
TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome
TELO2-related intellectual disability-neurodevelopmental disorder
Infantile multisystem neurologic-endocrine-pancreatic disease
Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome
RERE-related neurodevelopmental syndrome
CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
Arachnodactyly-intellectual disability-dysmorphism syndrome
KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome
Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome
Autosomal recessive chorioretinopathy-microcephaly syndrome
Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome
Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
Hepatic fibrosis-renal cysts-intellectual disability syndrome
Global developmental delay-osteopenia-ectodermal defect syndrome
Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome
X-linked intellectual disability, Snyder type
Developmental and speech delay due to SOX5 deficiency
Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome
Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome
KLHL7-related Bohring-Opitz-like syndrome
X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome
CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome
X-linked intellectual disability-seizures-psoriasis syndrome
Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome
Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome
Short stature-wormian bones-dextrocardia syndrome
Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome
Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome
BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome
MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome
Combined immunodeficiency due to TBX1 deficiency
Poirier-Bienvenu neurodevelopmental syndrome
CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome
ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome
ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation
Intellectual disability-nasal speech-craniofacial dysmorphism syndrome
Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation
Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome
Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome
Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome
Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome
NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome
Hereditary persistence of fetal hemoglobin-intellectual disability syndrome
Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome
Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome
Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome
Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN
Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome
Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome
Cleft palate-congenital heart defect-intellectual disability syndrome
Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation
CHD4-related neurodevelopmental disorder
Intellectual disability-cupped ears syndrome
Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome
Neurodevelopmental delay-intellectual disability-skeletal defects syndrome
Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome
Difference of sex development-intellectual disability syndrome
Intellectual disability-cataracts-calcified pinnae-myopathy syndrome
Spinocerebellar degeneration-corneal dystrophy syndrome
Keratosis follicularis-dwarfism-cerebral atrophy syndrome
Kallmann syndrome-heart disease syndrome
Cutaneous mastocytosis-deafness-microtia syndrome
Multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Dislocation of the hip-dysmorphism syndrome
Müllerian duct anomalies-limb anomalies syndrome
Microcephaly-albinism-digital anomalies syndrome
Cyprus facial-neuromusculoskeletal syndrome
Short tarsus-absence of lower eyelashes syndrome
Short stature-valvular heart disease-characteristic facies syndrome
Polysyndactyly-cardiac malformation syndrome
Autosomal recessive multiple pterygium syndrome
Trigonocephaly-bifid nose-acral anomalies syndrome
Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome
Müllerian derivatives-lymphangiectasia-polydactyly syndrome
Developmental malformations-deafness-dystonia syndrome
Macrostomia-preauricular tags-external ophthalmoplegia syndrome
Lethal congenital contracture syndrome type 2
Lethal congenital contracture syndrome type 3
Nijmegen breakage syndrome-like disorder
Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
Camptodactyly syndrome, Guadalajara type 1
Heart defect-tongue hamartoma-polysyndactyly syndrome
Cataract-aberrant oral frenula-growth delay syndrome
Night blindness-skeletal anomalies-dysmorphism syndrome
Cryptomicrotia-brachydactyly-excess fingertip arch syndrome
Alar cartilages hypoplasia-coloboma-telecanthus syndrome
Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome
Multinodular goiter-cystic kidney-polydactyly syndrome
Short stature-craniofacial anomalies-genital hypoplasia syndrome
Hydrocephaly-tall stature-joint laxity syndrome
Hypertelorism-hypospadias-polysyndactyly syndrome
Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
Dysmorphism-pectus carinatum-joint laxity syndrome
Pectus excavatum-macrocephaly-dysplastic nails syndrome
Flat face-microstomia-ear anomaly syndrome
Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome
Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome
Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome
Syndrome with limb malformations as a major feature
Autosomal dominant multiple pterygium syndrome
Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome
Arthrogryposis-like hand anomaly-sensorineural deafness syndrome
Arthrogryposis-severe scoliosis syndrome
X-linked lethal multiple pterygium syndrome
Neurogenic arthrogryposis multiplex congenita
Infantile-onset X-linked spinal muscular atrophy
Arthrogryposis-hyperkeratosis syndrome, lethal form
Hypomyelination neuropathy-arthrogryposis syndrome
Arthrogryposis-anterior horn cell disease syndrome
Autosomal recessive myogenic arthrogryposis multiplex congenita
Congenital lethal myopathy, Compton-North type
MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome
Prenatal-onset spinal muscular atrophy with congenital bone fractures
Familial isolated clinodactyly of fingers
Isolated congenital radial head dislocation
Congenital elbow dislocation, unilateral
Unifocal fast-flow vascular malformation
Peripheral fast-flow vascular malformation
Peripheral congenital arteriovenous fistula
Intramuscular fast-flow vascular anomaly
Fast-flow vascular malformation of the central nervous system
Intracranial fast-flow vascular malformation
Acquired intracranial dural arteriovenous fistula
Dural sinus malformation with arteriovenous shunt
Acquired spinal dural arteriovenous fistula
Spinal epidural arteriovenous malformation
Metameric fast-flow vascular malformation
Cerebrofacial arteriovenous metameric syndrome
Gastrointestinal tract arteriovenous malformation
Urinary tract arteriovenous malformation
Arteriovenous malformation of the thoraco-abdominal-pelvic cavity
Retroperitoneal arteriovenous malformation
Capillary malformation-arteriovenous malformation
RASA1-related capillary malformation-arteriovenous malformation
EPHB4-related capillary malformation-arteriovenous malformation
Multifocal peripheral venous malformation
Familial intraosseous vascular malformation
Dural sinus malformation without arteriovenous shunt
Familial cerebral cavernous malformation
Geographic pattern capillary malformation
Syndromic geographic pattern capillary malformation
Isolated geographic pattern capillary malformation
Rare capillary malformation with associated anomalies
Isolated reticulated capillary malformation
Diffuse capillary malformation with overgrowth
Isolated low resistance capillary malformation
Syndromic low resistance capillary malformation
Cutis marmorata telangiectatica congenita
Primary lymphedema without systemic or visceral involvement
Congenital primary lymphedema without systemic or visceral involvement
Late-onset primary lymphedema without systemic or visceral involvement
CELSR1-related late-onset primary lymphedema
GJC2-related late-onset primary lymphedema
Primary lymphedema with systemic or visceral involvement
PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome
Lymphedema-atrial septal defects-facial changes syndrome
Disorder with multisystemic involvement and primary lymphedema
Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome
Coagulation abnormality associated with a vascular anomaly
Disseminated intravascular coagulation associated with a vascular anomaly
Rare vascular malformation of major vessels
Complex vascular malformation with associated anomalies
Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome
Partially involuting congenital hemangioma
Rapidly involuting congenital hemangioma
Intravascular papillary endothelial hyperplasia
Multifocal infantile hemangioma with extracutenous involvement
Papillary intralymphatic angioendothelioma
Congenital intrahepatic arterioportal fistula
Congenital herpes simplex virus infection
Maternal disease-related embryofetopathy
Non-syndromic urogenital tract malformation
Non-syndromic urogenital tract malformation of female
Partial bilateral aplasia of the Müllerian ducts
Unilateral aplasia of the Müllerian ducts
Bicervical bicornuate uterus and blind hemivagina
Bicervical bicornuate uterus with patent cervix and vagina
Non-syndromic urogenital tract malformation of male
Congenital bilateral absence of vas deferens
Non-syndromic urogenital tract malformation of male and female
Lethal hemolytic anemia-genital anomalies syndrome
Lower limb malformation-hypospadias syndrome
Torticollis-keloids-cryptorchidism-renal dysplasia syndrome
Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome
Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome
Familial steroid-resistant nephrotic syndrome with sensorineural deafness
Hypertelorism-preauricular sinus-punctual pits-deafness syndrome
Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome
Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy
Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome
MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome
Autosomal recessive distal renal tubular acidosis
Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
Progressive autosomal recessive ataxia-deafness syndrome
Ocular albinism with late-onset sensorineural deafness
Mitochondrial myopathy-lactic acidosis-deafness syndrome
Lethal ataxia with deafness and optic atrophy
Ataxia-deafness-intellectual disability syndrome
Corneal dystrophy-perceptive deafness syndrome
Palmoplantar keratoderma-deafness syndrome
Thickened earlobes-conductive deafness syndrome
Conductive deafness-malformed external ear syndrome
Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome
Syndromic sensorineural deafness due to combined oxidative phosphorylation defect
Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
Myoclonus-cerebellar ataxia-deafness syndrome
Nephropathy-deafness-hyperparathyroidism syndrome
Neutropenia-monocytopenia-deafness syndrome
Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
Olivopontocerebellar atrophy-deafness syndrome
Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome
Deaf blind hypopigmentation syndrome, Yemenite type
Deafness-small bowel diverticulosis-neuropathy syndrome
Deafness-epiphyseal dysplasia-short stature syndrome
Athabaskan brainstem dysgenesis syndrome
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
Deafness-ear malformation-facial palsy syndrome
Cochleosaccular degeneration-cataract syndrome
Progressive deafness with stapes fixation
Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome
Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
Thiamine-responsive megaloblastic anemia syndrome
X-linked Charcot-Marie-Tooth disease type 5
X-linked Charcot-Marie-Tooth disease type 1
X-linked Charcot-Marie-Tooth disease type 2
X-linked Charcot-Marie-Tooth disease type 3
X-linked Charcot-Marie-Tooth disease type 4
X-linked Charcot-Marie-Tooth disease type 6
Sensorineural hearing loss-early graying-essential tremor syndrome
Deafness with labyrinthine aplasia, microtia, and microdontia
Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome
RFVT2-related riboflavin transporter deficiency
RFVT3-related riboflavin transporter deficiency
Stapes ankylosis with broad thumbs and toes
Combined oxidative phosphorylation defect type 25
Hereditary sensory neuropathy-deafness-dementia syndrome
DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome
Auditory neuropathy-optic atrophy syndrome
Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome
SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome
SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome
SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome
Adult-onset progressive leukoencephalopathy-early-onset deafness
46,XX difference of sex development induced by androgens excess
46,XX difference of sex development induced by fetal androgens excess
Generalized glucocorticoid resistance syndrome
Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency
46,XX difference of sex development induced by maternal-derived androgen
46,XX difference of sex development induced by endogenous maternal-derived androgen
46,XX difference of sex development induced by exogenous maternal-derived androgen
46,XX difference of sex development induced by fetoplacental androgens excess
46,XX ovotesticular difference of sex development
46,XX testicular difference of sex development
46,XX ovarian dysgenesis-short stature syndrome
Syndrome with 46,XX difference of sex development
46,XX difference of sex development-skeletal anomalies syndrome
Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome
Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome
Syndrome with 46,XY difference of sex development
XY type gonadal dysgenesis-associated anomalies syndrome
Familial adrenal hypoplasia with absent pituitary luteinizing hormone
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
Sudden infant death-dysgenesis of the testes syndrome
46,XY ovotesticular difference of sex development
46,XY difference of sex development of endocrine origin
Complete androgen insensitivity syndrome
46,XY difference of sex development due to impaired androgen production
Leydig cell hypoplasia due to complete LH resistance
Leydig cell hypoplasia due to partial LH resistance
Leydig cell hypoplasia due to LHB deficiency
46,XY difference of sex development due to a testosterone synthesis defect
46,XY difference of sex development due to adrenal and testicular steroidogenesis defect
Congenital lipoid adrenal hyperplasia due to STAR deficency
Classic congenital lipoid adrenal hyperplasia due to STAR deficency
Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
46,XY difference of sex development due to testicular steroidogenesis defect
46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
46,XY difference of sex development due to isolated 17,20-lyase deficiency
46,XY difference of sex development due to a cholesterol synthesis defect
46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue
46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
46,XY difference of sex development due to testicular 17,20-desmolase deficiency
46,XY difference of sex development induced by maternal exposure to endocrine disruptors
Sex chromosome difference of sex development
Seizures-scoliosis-macrocephaly syndrome
POGLUT1-related limb-girdle muscular dystrophy R21
Disorder of O-N-acetylgalactosaminylglycan synthesis
Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
FKRP-related limb-girdle muscular dystrophy R9
POMT1-related limb-girdle muscular dystrophy R11
POMT2-related limb-girdle muscular dystrophy R14
POMGNT1-related limb-girdle muscular dystrophy R15
ISPD-related limb-girdle muscular dystrophy R20
GMPPB-related limb-girdle muscular dystrophy R19
Congenital muscular dystrophy with cerebellar involvement
Congenital muscular dystrophy with intellectual disability
Congenital muscular dystrophy without intellectual disability
Limb-girdle muscular dystrophy due to POMK deficiency
Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
Autosomal recessive spastic paraplegia type 67
Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency
Early-onset epilepsy-intellectual disability-brain anomalies syndrome
Congenital dyserythropoietic anemia type II
Defect in conserved oligomeric Golgi complex
Congenital muscular dystrophy with intellectual disability and severe epilepsy
Autosomal recessive spastic paraplegia type 48
Disorder of lysosomal amino acid transport
Free sialic acid storage disease, infantile form
Metachromatic leukodystrophy, late infantile form
Metachromatic leukodystrophy, juvenile form
Metachromatic leukodystrophy, adult form
Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome
Atypical Gaucher disease due to saposin C deficiency
Niemann-Pick disease type C, severe perinatal form
Niemann-Pick disease type C, severe early infantile neurologic onset
Niemann-Pick disease type C, late infantile neurologic onset
Niemann-Pick disease type C, juvenile neurologic onset
Niemann-Pick disease type C, adult neurologic onset
Encephalopathy due to prosaposin deficiency
Autosomal recessive cerebellar ataxia with late-onset spasticity
Infantile neurovisceral acid sphingomyelinase deficiency
Chronic visceral acid sphingomyelinase deficiency
Chronic neurovisceral acid sphingomyelinase deficiency
Alpha-N-acetylgalactosaminidase deficiency
Alpha-N-acetylgalactosaminidase deficiency type 1
Alpha-N-acetylgalactosaminidase deficiency type 2
Alpha-N-acetylgalactosaminidase deficiency type 3
Disorder of peroxisomal alpha-, beta- and omega-oxidation
Congenital bile acid synthesis defect type 4
Leukoencephalopathy-dystonia-motor neuropathy syndrome
Autosomal recessive ataxia due to PEX16 deficiency
Autosomal recessive ataxia due to PEX2 deficiency
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Autosomal recessive ataxia due to PEX10 deficiency
Disorder of amino acid and other organic acid metabolism
Disorder of amino acid absorption and transport
Disorder of neutral amino acid transport
Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome
Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency
Disorder of urea cycle metabolism and ammonia detoxification
Carbamoyl-phosphate synthetase 1 deficiency
Neonatal intrahepatic cholestasis due to citrin deficiency
Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
Hyperammonemia due to N-acetylglutamate synthase deficiency
Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
Disorder of methionine cycle and sulfur amino acid metabolism
Autosomal recessive extra-oral halitosis
Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome
Homocystinuria without methylmalonic aciduria
Methionine adenosyltransferase I/III deficiency
Hypermethioninemia encephalopathy due to adenosine kinase deficiency
Hypermethioninemia due to glycine N-methyltransferase deficiency
Beta-mercaptolactate cysteine disulfiduria
Histidinuria-renal tubular defect syndrome
Disorder of ornithine or proline metabolism
Disorder of phenylalanin or tyrosine metabolism
Tetrahydrobiopterin-responsive phenylketonuria
Tetrahydrobiopterin-unresponsive phenylketonuria
Autosomal recessive dopa-responsive dystonia
Disorder of serine or glycine metabolism
Neurometabolic disorder due to serine deficiency
Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
Serine biosynthesis pathway deficiency, infantile/juvenile form
3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form
3-phosphoserine phosphatase deficiency, infantile/juvenile form
Phosphoserine aminotransferase deficiency, infantile/juvenile form
Dimethylglycine dehydrogenase deficiency
Glutathione synthetase deficiency with 5-oxoprolinuria
Glutathione synthetase deficiency without 5-oxoprolinuria
Gamma-glutamyl transpeptidase deficiency
Disorder of branched-chain amino acid metabolism
Thiamine-responsive maple syrup urine disease
Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency
Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency
Disorder of lysine and hydroxylysine metabolism
Spastic ataxia-dysarthria due to glutaminase deficiency
Neonatal epileptic encephalopathy due to glutaminase deficiency
Congenital brain dysgenesis due to glutamine synthetase deficiency
Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
Methylmalonic acidemia with homocystinuria
Methylmalonic acidemia with homocystinuria, type cblC
Methylmalonic acidemia with homocystinuria, type cblD
Methylmalonic acidemia with homocystinuria type cblF
Methylmalonic acidemia with homocystinuria, type cblJ
Methylmalonic acidemia with homocystinuria, type cblX
3-methylcrotonyl-CoA carboxylase deficiency
2-methylbutyryl-CoA dehydrogenase deficiency
Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency
Combined malonic and methylmalonic acidemia
3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
Methylmalonic acidemia without homocystinuria
Vitamin B12-unresponsive methylmalonic acidemia
Vitamin B12-unresponsive methylmalonic acidemia type mut-
Vitamin B12-unresponsive methylmalonic acidemia type mut0
Vitamin B12-responsive methylmalonic acidemia
Vitamin B12-responsive methylmalonic acidemia type cblA
Vitamin B12-responsive methylmalonic acidemia type cblB
Vitamin B12-responsive methylmalonic acidemia, type cblDv2
Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency
Disorder of beta and omega amino acid metabolism
Gamma-aminobutyric acid transaminase deficiency
Minimal pigment oculocutaneous albinism type 1
Temperature-sensitive oculocutaneous albinism type 1
Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome
Phosphoenolpyruvate carboxykinase deficiency
Pyruvate carboxylase deficiency, infantile type
Pyruvate carboxylase deficiency, severe neonatal type
Pyruvate carboxylase deficiency, benign type
Glycerol kinase deficiency, juvenile form
Glycogen storage disease due to muscle glycogen phosphorylase deficiency
Glycogen storage disease due to liver glycogen phosphorylase deficiency
Glycogen storage disease due to muscle phosphofructokinase deficiency
Glycogen storage disease due to phosphorylase kinase deficiency
Glycogen storage disease due to muscle phosphorylase kinase deficiency
Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency
Glycogen storage disease due to liver phosphorylase kinase deficiency
Glycogen storage disease due to glucose-6-phosphatase deficiency
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia
Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib
Glycogen storage disease due to aldolase A deficiency
Glycogen storage disease due to phosphoglycerate kinase 1 deficiency
Glycogen storage disease due to lactate dehydrogenase deficiency
Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency
Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency
Glycogen storage disease due to phosphoglycerate mutase deficiency
Glycogen storage disease due to muscle beta-enolase deficiency
Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency
Glycogen storage disease due to glycogen synthase deficiency
Glycogen storage disease due to hepatic glycogen synthase deficiency
Hemolytic anemia due to glucophosphate isomerase deficiency
Congenital glucokinase-related hyperinsulinism
Erythrocyte galactose epimerase deficiency
Generalized galactose epimerase deficiency
Disorder of carbohydrate absorption and transport
Congenital sucrase-isomaltase deficiency
Classic glucose transporter type 1 deficiency syndrome
Chronic diarrhea due to glucoamylase deficiency
Juvenile cataract-microcornea-renal glucosuria syndrome
Disorder of pentose phosphate metabolism
Mitochondrial oxidative phosphorylation disorder
Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
Encephalopathy due to mitochondrial and peroxisomal fission defect
DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect
MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect
Fatal infantile cytochrome C oxidase deficiency
Autosomal recessive ataxia due to ubiquinone deficiency
Deafness-encephaloneuropathy-obesity-valvulopathy syndrome
COQ7-related distal hereditary motor neuropathy
Mitochondrial disorder due to a defect in mitochondrial protein synthesis
Mitochondrial myopathy and sideroblastic anemia
Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1
Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome
Hypotonia with lactic acidemia and hyperammonemia
Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3
Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins
Severe X-linked mitochondrial encephalomyopathy
Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome
Combined oxidative phosphorylation defect type 2
Combined oxidative phosphorylation defect type 4
Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
Autosomal recessive spastic ataxia with leukoencephalopathy
Combined oxidative phosphorylation defect type 8
Combined oxidative phosphorylation defect type 9
Combined oxidative phosphorylation defect type 13
Combined oxidative phosphorylation defect type 14
Combined oxidative phosphorylation defect type 15
Combined oxidative phosphorylation defect type 11
Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome
Combined oxidative phosphorylation defect type 20
Combined oxidative phosphorylation defect type 21
Combined oxidative phosphorylation defect type 24
Combined oxidative phosphorylation defect type 39
Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome
Combined oxidative phosphorylation defect type 30
Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect
Combined oxidative phosphorylation defect type 27
C12ORF65-related combined oxidative phosphorylation defect
Combined oxidative phosphorylation defect type 7
Autosomal recessive spastic paraplegia type 55
Combined oxidative phosphorylation defect type 26
Autosomal recessive spastic paraplegia type 77
Combined oxidative phosphorylation defect type 29
WARS2-related combined oxidative phosphorylation defect
Pancreatic insufficiency-anemia-hyperostosis syndrome
Mitochondrial oxidative phosphorylation disorder with no known mechanism
Zellweger-like syndrome without peroxisomal anomalies
Autosomal dominant optic atrophy and cataract
Autosomal dominant optic atrophy, classic form
FASTKD2-related infantile mitochondrial encephalomyopathy
Autosomal recessive optic atrophy, OPA7 type
Autosomal dominant optic atrophy and peripheral neuropathy
Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome
Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
Autosomal dominant mitochondrial myopathy with exercise intolerance
Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes
TMEM70-related mitochondrial encephalo-cardio-myopathy
Exercise intolerance with lactic acidosis
Hereditary myopathy with lactic acidosis due to ISCU deficiency
Renal tubulopathy-encephalopathy-liver failure syndrome
Multiple mitochondrial dysfunctions syndrome
Multiple mitochondrial dysfunctions syndrome type 6
Multiple mitochondrial dysfunctions syndrome type 3
Multiple mitochondrial dysfunctions syndrome type 1
Multiple mitochondrial dysfunctions syndrome type 2
Multiple mitochondrial dysfunctions syndrome type 4
Multiple mitochondrial dysfunctions syndrome type 5
Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency
Mitochondrial DNA depletion syndrome, encephalomyopathic form
Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria
Fatal infantile lactic acidosis with methylmalonic aciduria
Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy
Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies
Mitochondrial DNA depletion syndrome, hepatocerebral form
Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
Mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Mitochondrial DNA depletion syndrome, myopathic form
Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
Multiple mitochondrial DNA deletion syndrome
Autosomal dominant optic atrophy plus syndrome
Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome
Autosomal recessive progressive external ophthalmoplegia
Autosomal dominant progressive external ophthalmoplegia
Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency
DNA2-related mitochondrial DNA deletion syndrome
Progressive external ophthalmoplegia-myopathy-emaciation syndrome
SURF1-related Charcot-Marie-Tooth disease type 4
Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type
Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies
Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA
Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA
Rare mitochondrial non-syndromic sensorineural deafness
Mitochondrial DNA-related mitochondrial myopathy
Mitochondrial myopathy with reversible cytochrome C oxidase deficiency
Mitochondrial DNA-associated Leigh syndrome
Periodic paralysis with later-onset distal motor neuropathy
Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation
Isolated oxidative phosphorylation complex disorder
Isolated succinate-CoQ reductase deficiency
Isolated cytochrome C oxidase deficiency
Mitochondrial membrane transport disorder
Mitochondrial substrate carrier disorder
Adult-onset autosomal recessive sideroblastic anemia
Epileptic encephalopathy with global cerebral demyelination
Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome
X-linked sideroblastic anemia and spinocerebellar ataxia
Childhood-onset spasticity with hyperglycinemia
Guanidinoacetate methyltransferase deficiency
L-Arginine:glycine amidinotransferase deficiency
Disorder of fatty acid oxidation and ketone body metabolism
Succinyl-CoA:3-oxoacid CoA transferase deficiency
Disorder of fatty acid oxidation and ketogenesis
3-hydroxy-3-methylglutaryl-CoA synthase deficiency
Medium chain acyl-CoA dehydrogenase deficiency
Short chain acyl-CoA dehydrogenase deficiency
Transient neonatal multiple acyl-CoA dehydrogenase deficiency
3-hydroxyacyl-CoA dehydrogenase deficiency
Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency
Disorder of carnitine cycle and carnitine transport
Carnitine palmitoyltransferase II deficiency
Carnitine palmitoyl transferase II deficiency, myopathic form
Carnitine palmitoyl transferase II deficiency, severe infantile form
Carnitine palmitoyl transferase II deficiency, neonatal form
Carnitine palmitoyl transferase 1A deficiency
Metabolic disease due to other fatty acid oxidation disorder
Ketoacidosis due to monocarboxylate transporter-1 deficiency
Pyruvate dehydrogenase E1-alpha deficiency
Pyruvate dehydrogenase phosphatase deficiency
Pyruvate dehydrogenase E1-beta deficiency
Pyruvate dehydrogenase E3-binding protein deficiency
Hemolytic anemia due to red cell pyruvate kinase deficiency
Mitochondrial pyruvate carrier deficiency
Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate
Infantile cerebellar-retinal degeneration
Disorder of biogenic amine metabolism and transport
Disorder of neurotransmitter metabolism and transport
Dopa-responsive dystonia due to sepiapterin reductase deficiency
Autosomal dominant dopa-responsive dystonia
Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
6-pyruvoyl-tetrahydropterin synthase deficiency
Pterin-4 alpha-carbinolamine dehydratase deficiency
Hyperphenylalaninemia due to DNAJC12 deficiency
Aromatic L-amino acid decarboxylase deficiency
Brain dopamine-serotonin vesicular transport disease
Disorder of gamma-aminobutyric acid metabolism
Succinic semialdehyde dehydrogenase deficiency
Pyridoxine-dependent-developmental and epileptic encephalopathy
Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy
Metabolic disease involving other neurotransmitter deficiency
Hereditary butyrylcholinesterase deficiency
Disorder of purine or pyrimidine metabolism
Adenosine monophosphate deaminase deficiency
Purine nucleoside phosphorylase deficiency
Adenine phosphoribosyltransferase deficiency
Phosphoribosylpyrophosphate synthetase superactivity
Mild phosphoribosylpyrophosphate synthetase superactivity
Severe phosphoribosylpyrophosphate synthetase superactivity
Severe combined immunodeficiency due to adenosine deaminase deficiency
Hemolytic anemia due to erythrocyte adenosine deaminase overproduction
Hypoxanthine-guanine phosphoribosyltransferase deficiency
Hypoxanthine guanine phosphoribosyltransferase partial deficiency
X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement
Dihydropyrimidine dehydrogenase deficiency
Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
Diazoxide-sensitive diffuse hyperinsulinism
Congenital hyperinsulinism due to HNF4A deficiency
Autosomal dominant hyperinsulinism due to SUR1 deficiency
Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
Diazoxide-resistant focal hyperinsulinism
Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
Diazoxide-resistant diffuse hyperinsulinism
Autosomal recessive hyperinsulinism due to SUR1 deficiency
Autosomal recessive hyperinsulinism due to Kir6.2 deficiency
Hemolytic anemia due to diphosphoglycerate mutase deficiency
Hypotonia-failure to thrive-microcephaly syndrome
Alacrimia-choreoathetosis-liver dysfunction syndrome
Idiopathic malabsorption due to bile acid synthesis defects
Bile acid synthesis defect with cholestasis and malabsorption
Congenital bile acid synthesis defect type 1
Congenital bile acid synthesis defect type 3
Congenital bile acid synthesis defect type 2
Bile acid CoA ligase deficiency and defective amidation
Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency
Familial lipase maturation factor 1 deficiency
Hyperlipidemia due to hepatic triacylglycerol lipase deficiency
Homozygous familial hypercholesterolemia
Disorder of lipid absorption and transport
Pancreatic triacylglycerol lipase deficiency
Combined pancreatic lipase-colipase deficiency
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
Spastic paraparesis-cataracts-speech delay syndrome
Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction
Autosomal recessive spastic paraplegia type 39
Pantothenate kinase-associated neurodegeneration
Classic pantothenate kinase-associated neurodegeneration
Atypical pantothenate kinase-associated neurodegeneration
Fatty acid hydroxylase-associated neurodegeneration
Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
Progressive encephalopathy with leukodystrophy due to DECR deficiency
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
Hereditary sensory and autonomic neuropathy type 1
Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
Neutral lipid storage disease with ichthyosis
Neutral lipid storage disease with myopathy
Megaconial congenital muscular dystrophy
Familial steroid-resistant nephrotic syndrome with adrenal insufficiency
Disorder of lysosomal-related organelles
Hermansky-Pudlak syndrome due to AP-3 deficiency
Hermansky-Pudlak syndrome due to AP3B1 deficiency
Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency
Hermansky-Pudlak syndrome due to BLOC-3 deficiency
Hermansky-Pudlak syndrome due to BLOC-2 deficiency
Hermansky-Pudlak syndrome due to BLOC-1 deficiency
Disorder of porphyrin and heme metabolism
Erythropoietic uroporphyria associated with myeloid malignancy
Porphyria due to ALA dehydratase deficiency
Disorder of bilirubin metabolism and excretion
Progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis type 2
Progressive familial intrahepatic cholestasis type 3
Progressive familial intrahepatic cholestasis type 1
Progressive familial intrahepatic cholestasis type 4
MYO5B-related progressive familial intrahepatic cholestasis
Progressive familial intrahepatic cholestasis type 5
Hereditary North American Indian childhood cirrhosis
Benign recurrent intrahepatic cholestasis
Benign recurrent intrahepatic cholestasis type 1
Benign recurrent intrahepatic cholestasis type 2
Disorder of metabolite absorption and transport
Disorder of vitamin and non-protein cofactor absorption and transport
Disorder of cobalamin metabolism and transport
Methylmalonic aciduria due to transcobalamin receptor defect
Disorder of folate metabolism and transport
MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency
Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency
Homocystinuria due to methylene tetrahydrofolate reductase deficiency
Neurodegenerative syndrome due to cerebral folate transport deficiency
Constitutional megaloblastic anemia with severe neurologic disease
Disorder of thiamine metabolism and transport
Progressive polyneuropathy with bilateral striatal necrosis
Biotin-thiamine-responsive basal ganglia disease
Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome
Childhood encephalopathy due to thiamine pyrophosphokinase deficiency
Disorder of other vitamins and cofactors metabolism and transport
Hereditary combined deficiency of vitamin K-dependent clotting factors
Hereditary hypercarotenemia and vitamin A deficiency
Progressive retinal dystrophy due to retinol transport defect
Sodium-dependent multivitamin transporter deficiency
Disorder of mineral absorption and transport
X-linked distal spinal muscular atrophy type 3
Congenital cataract-hearing loss-severe developmental delay syndrome
Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect
Disorder of iron metabolism and transport
Microcytic anemia with liver iron overload
Symptomatic form of HFE-related hemochromatosis
Hereditary hyperferritinemia-cataract syndrome
Disorder of zinc metabolism and transport
Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome
Primary hypomagnesemia with secondary hypocalcemia
Autosomal dominant primary hypomagnesemia with hypocalciuria
Isolated autosomal dominant hypomagnesemia, Glaudemans type
Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
EGF-related primary hypomagnesemia with intellectual disability
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
Dystonia-parkinsonism-hypermanganesemia syndrome
High-grade dysplasia in patients with Barrett esophagus
Palmoplantar keratoderma-esophageal carcinoma syndrome
Cystic fibrosis-gastritis-megaloblastic anemia syndrome
Epstein-Barr virus-associated gastric carcinoma
Gastric adenocarcinoma and proximal polyposis of the stomach
Familial gastric type 1 neuroendocrine tumor
Adenocarcinoma of the oesophagus and oesophagogastric junction
Squamous cell carcinoma of the esophagus
Carcinoma of esophagus, salivary gland type
Non-hypoproteinemic hypertrophic gastropathy
Moyamoya disease with early-onset achalasia
Autosomal dominant hereditary chronic pancreatitis
Functioning neuroendocrine tumor of pancreas
Cushing syndrome due to ectopic ACTH secretion
Serotonin-producing neuroendocrine tumor of pancreas
Non-functioning neuroendocrine tumor of pancreas
Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas
Mucinous cystadenocarcinoma of the pancreas
Intraductal papillary mucinous carcinoma of pancreas
Pancreatic solid pseudopapillary neoplasm
Undifferentiated carcinoma with osteoclast-like giant cells of pancreas
Intraductal tubulopapillary neoplasm of pancreas
Early-onset idiopathic chronic pancreatitis
Late-onset idiopathic chronic pancreatitis
Autosomal recessive hereditary chronic pancreatitis
Acinar cystic transformation of the pancreas
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
Congenital chronic diarrhea with protein-losing enteropathy
Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome
Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome
STAT3-related early-onset multisystem autoimmune disease
Syndromic autoimmune enteropathy due to LRBA deficiency
Immunodeficiency by defective expression of MHC class II
TCR-alpha-beta-positive T-cell deficiency
Combined immunodeficiency due to LCK deficiency
Intestinal disease due to vitamin absorption anomaly
Intestinal disease due to fat malabsorption
Congenital intestinal disease due to an enzymatic defect
Congenital enteropathy due to enteropeptidase deficiency
Congenital enteropathy involving intestinal mucosa development
Congenital enterocyte heparan sulfate deficiency
Rare disease involving intestinal motility
Chronic intestinal pseudoobstruction syndrome
Unclassified intestinal pseudoobstruction
Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
Multisystemic smooth muscle dysfunction syndrome
Hirschsprung disease-ganglioneuroblastoma syndrome
Monomorphic epitheliotropic intestinal T-cell lymphoma
Rare epithelial tumor of small intestine
Squamous cell carcinoma of the small intestine
Neuroendocrine tumor of the small intestine
Classic neuroendocrine tumor of appendix
Squamous cell carcinoma of the anal canal
Rare non-syndromic inflammatory bowel disease
Chronic enteropathy associated with SLCO2A1 gene
TRIM22-related inflammatory bowel disease
IL21-related infantile inflammatory bowel disease
CARD8-related inflammatory bowel disease
SCGN-related severe early-onset hereditary ulcerative colitis
AGR2-related infantile-onset inflammatory bowel disease
PERCC1-related congenital intractable malabsorptive diarrhea
Rare disorder with inflammatory bowel disease
Rare congenital-chronic-intractable diarrhea with inflammatory bowel disease
Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome
Cutaneous photosensitivity-lethal colitis syndrome
Rare immune disease with inflammatory bowel disease
Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome
Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome
Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome
Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency
Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome
Rare skin disease with inflammatory bowel disease
Rare systemic or rheumatologic diseases with inflammatory bowel disease
Rare inborn error of metabolism with inflammatory bowel disease
Rare miscellaneous disease with inflammatory bowel disease
Metabolic disease with intestinal involvement
Congenital disorder of glycosylation with intestinal involvement
Periodic fever-infantile enterocolitis-autoinflammatory syndrome
Ileal pouch anal anastomosis related faecal incontinence
Cryptogenic multifocal ulcerous stenosing enteritis
Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder
Malignant epithelial tumor of salivary glands
Benign epithelial tumor of salivary glands
Primary eosinophilic gastrointestinal disease
Inherited digestive cancer-predisposing syndrome
Isolated familial medullary thyroid carcinoma
Polymerase proofreading-related polyposis
Generalized juvenile polyposis/juvenile polyposis coli
Attenuated familial adenomatous polyposis
Hereditary neuroendocrine tumor of small intestine
Primary tuberculosis of the digestive system
Biological anomaly without phenotypic characterization
Congenital deficiency in alpha-fetoprotein
Hereditary persistence of alpha-fetoprotein
Genetic hyperferritinemia without iron overload
Hereditary leiomyomatosis and renal cell cancer
Multiple self-healing squamous epithelioma
Generalized basaloid follicular hamartoma syndrome
Familial atypical multiple mole melanoma syndrome
MME-related autosomal dominant Charcot Marie Tooth disease type 2
Large/giant congenital melanocytic nevus
Porokeratotic eccrine ostial and dermal duct nevus
Hereditary pheochromocytoma-paraganglioma
Familial papillary thyroid carcinoma with renal papillary neoplasia
Familial papillary or follicular thyroid carcinoma
Multiple paragangliomas associated with polycythemia
Genetic tumor of hematopoietic and lymphoid tissues
Acute myeloid leukemia with CEBPA somatic mutations
Genetic autoinflammatory syndrome with skin involvement
F12-associated cold autoinflammatory syndrome
Tumor necrosis factor receptor 1 associated periodic syndrome
NLRP3-associated autoinflammatory disease
NLRP12-associated hereditary periodic fever syndrome
Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome
Proteasome-associated autoinflammatory syndrome
STING-associated vasculopathy with onset in infancy
NLRC4-related familial cold autoinflammatory syndrome
SAMD9L-associated autoinflammatory syndrome
Early-onset autoinflammatory syndrome due to A20 haploinsufficiency
Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa
Multiple benign circumferential skin creases on limbs
Mucopolysaccharidosis with skin involvement
Congenital disorder of glycosylation with skin involvement
Isolated diffuse palmoplantar keratoderma
Autosomal dominant isolated diffuse palmoplantar keratoderma
Transgrediens et progrediens palmoplantar keratoderma
Diffuse palmoplantar keratoderma, Bothnian type
Diffuse palmoplantar keratoderma with painful fissures
KRT1-related diffuse nonepidermolytic keratoderma
Autosomal recessive isolated diffuse palmoplantar keratoderma
Palmoplantar keratoderma, Nagashima type
Disease with diffuse palmoplantar keratoderma as a major feature
Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature
Progressive symmetric erythrokeratodermia
Diffuse palmoplantar keratoderma-acrocyanosis syndrome
Keratosis palmaris et plantaris-clinodactyly syndrome
Autosomal dominant diffuse mutilating palmoplantar keratoderma
Mutilating palmoplantar keratoderma with periorificial keratotic plaques
Keratoderma hereditarium mutilans with ichthyosis
Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome
Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature
Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome
Focal palmoplantar keratoderma with joint keratoses
Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
Isolated focal non-epidermolytic palmoplantar keratoderma
Disease with focal palmoplantar keratoderma as a major feature
Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature
Focal palmoplantar and gingival keratoderma
Autosomal recessive disease with focal palmoplantar keratoderma as a major feature
Woolly hair-palmoplantar keratoderma syndrome
Isolated punctate palmoplantar keratoderma
Porokeratosis plantaris palmaris et disseminata
Punctate palmoplantar keratoderma type 1
Punctate palmoplantar keratoderma type 2
Marginal papular palmoplantar keratoderma
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Disease with punctate palmoplantar keratoderma as a major feature
Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature
Hyperkeratosis-hyperpigmentation syndrome
Palmoplantar keratoderma-spastic paralysis syndrome
Hypopigmentation-punctate palmoplantar keratoderma syndrome
Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature
Leukoencephalopathy-palmoplantar keratoderma syndrome
X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome
Absence of fingerprints-congenital milia syndrome
Hereditary bullous dystrophy, macular type
Keratosis follicularis spinulosa decalvans
Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome
Severe dermatitis-multiple allergies-metabolic wasting syndrome
Epidermolysis bullosa simplex without extracutaneous involvement
Epidermolysis bullosa simplex due to BP230 deficiency
Epidermolysis bullosa simplex due to exophilin 5 deficiency
Autosomal dominant generalized epidermolysis bullosa simplex, severe form
Epidermolysis bullosa simplex with mottled pigmentation
Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form
PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement
Autosomal recessive generalized epidermolysis bullosa simplex
Epidermolysis bullosa simplex with circinate migratory erythema
Epidermolysis bullosa simplex with extracutaneous involvement
Intermediate epidermolysis bullosa simplex with cardiomyopathy
Epidermolysis bullosa simplex with pyloric atresia
Seborrhea-like dermatitis with psoriasiform elements
Congenital reticular ichthyosiform erythroderma
Autosomal dominant epidermolytic ichthyosis
Autosomal recessive epidermolytic ichthyosis
Autosomal ichthyosis syndrome with prominent hair abnormalities
Neonatal ichthyosis-sclerosing cholangitis syndrome
Autosomal ichthyosis syndrome with prominent neurologic signs
Congenital ichthyosis-microcephalus-tetraplegia syndrome
Autosomal ichthyosis syndrome with fatal disease course
Autosomal ichthyosis syndrome with other associated signs
Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
Erythrokeratoderma variabilis progressiva
Punctate acrokeratoderma freckle-like pigmentation
Disseminated superficial actinic porokeratosis
Hereditary sclerosing poikiloderma, Weary type
Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome
Alopecia-epilepsy-pyorrhea-intellectual disability syndrome
Alopecia-intellectual disability syndrome
Hereditary hypotrichosis with recurrent skin vesicles
Isolated anterior cervical hypertrichosis
Pili torti-developmental delay-neurological abnormalities syndrome
Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome
Genetic pigmentation anomaly of the skin
Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
Linear and whorled nevoid hypermelanosis
Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome
Piebald trait-neurologic defects syndrome
Familial progressive hyper- and hypopigmentation
Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
Familial reactive perforating collagenosis
Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
Familial primary localized cutaneous amyloidosis
Primary non-essential cutis verticis gyrata
Isolated generalized anhidrosis with normal sweat glands
Lipodystrophy due to peptidic growth factors deficiency
PPARG-related familial partial lipodystrophy
Familial partial lipodystrophy, Köbberling type
AKT2-related familial partial lipodystrophy
PLIN1-related familial partial lipodystrophy
Autosomal semi-dominant severe lipodystrophic laminopathy
CIDEC-related familial partial lipodystrophy
LIPE-related familial partial lipodystrophy
Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome
Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome
Genetic immune deficiency with skin involvement
Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
Inherited epidermodysplasia verruciformis
Combined immunodeficiency with granulomatosis
Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
Autosomal dominant combined immunodeficiency due to ERBIN deficiency
Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
Autosomal recessive combined immunodeficiency due to IL6R deficiency
Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency
Combined immunodeficiency due to RELA haploinsufficiency
Genetic neurological channelopathy of the central nervous system
Neurological channelopathy of the central nervous system due to a genetic sodium channel defect
Genetic epilepsy with febrile seizure plus
Epilepsy of infancy with migrating focal seizures
Familial or sporadic hemiplegic migraine
Non-specific early-onset epileptic encephalopathy
Early infantile developmental and epileptic encephalopathy
Self-limited neonatal-infantile epilepsy
Neurological channelopathy of the central nervous system due to a genetic calcium channel defect
Neurological channelopathy of the central nervous system due to a genetic potassium channel defect
KCNQ2-related developmental and epileptic encephalopathy
Generalized epilepsy-paroxysmal dyskinesia syndrome
Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect
Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect
Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect
Self-limited epilepsy with centrotemporal spikes
Neurological channelopathy of the central nervous system due to a genetic chloride channel defect
Leukoencephalopathy with mild cerebellar ataxia and white matter edema
CLCN4-related X-linked intellectual disability syndrome
C11ORF73-related autosomal recessive hypomyelinating leukodystrophy
VPS11-related autosomal recessive hypomyelinating leukodystrophy
Pelizaeus-Merzbacher disease, connatal form
Pelizaeus-Merzbacher disease, classic form
Pelizaeus-Merzbacher disease, transitional form
Pelizaeus-Merzbacher disease in female carriers
Congenital or early infantile CACH syndrome
Megalencephalic leukoencephalopathy with subcortical cysts
Cystic leukoencephalopathy without megalencephaly
Hypomyelination-congenital cataract syndrome
Hypomyelination with atrophy of basal ganglia and cerebellum
Leukoencephalopathy with bilateral anterior temporal lobe cysts
Progressive cavitating leukoencephalopathy
Pelizaeus-Merzbacher-like disease due to GJC2 mutation
Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome
Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome
Tremor-ataxia-central hypomyelination syndrome
Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
Hypomyelination with brain stem and spinal cord involvement and leg spasticity
RARS-related autosomal recessive hypomyelinating leukodystrophy
NKX6-2-related autosomal recessive hypomyelinating leukodystrophy
Hypomyelination of early myelinating structures
Episodic memory defect leukoencephalopathy
Neurodegeneration with brain iron accumulation
Mitochondrial membrane protein-associated neurodegeneration
Beta-propeller protein-associated neurodegeneration
COASY protein-associated neurodegeneration
Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
Congenital disorder of glycosylation with neurological involvement
POMGNT2-related limb-girdle muscular dystrophy R24
Congenital disorder of glycosylation with epilepsy as a major feature
Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy
Digital extensor muscle aplasia-polyneuropathy
Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
Spastic paraplegia-optic atrophy-neuropathy syndrome
Autosomal recessive spastic paraplegia type 57
Autosomal recessive spastic paraplegia type 74
Axonal hereditary motor and sensory neuropathy
Autosomal recessive axonal hereditary motor and sensory neuropathy
Autosomal recessive Charcot-Marie-Tooth disease type 2X
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Autosomal recessive axonal neuropathy with neuromyotonia
Microcephaly-complex motor and sensory axonal neuropathy syndrome
DNAJB2-related Charcot-Marie-Tooth disease type 2
Severe early-onset axonal neuropathy due to MFN2 deficiency
Hereditary motor and sensory neuropathy with acrodystrophy
Autosomal recessive Charcot-Marie-Tooth disease with hoarseness
Hereditary motor and sensory neuropathy type 6
Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy
Congenital axonal neuropathy with encephalopathy
Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy
Autosomal dominant hereditary axonal motor and sensory neuropathy
Autosomal dominant Charcot-Marie-Tooth disease type 2
Autosomal dominant Charcot-Marie-Tooth disease type 2B
Autosomal dominant Charcot-Marie-Tooth disease type 2C
Autosomal dominant Charcot-Marie-Tooth disease type 2D
Autosomal dominant Charcot-Marie-Tooth disease type 2E
Autosomal dominant Charcot-Marie-Tooth disease type 2F
Autosomal dominant Charcot-Marie-Tooth disease type 2I
Autosomal dominant Charcot-Marie-Tooth disease type 2J
Autosomal dominant Charcot-Marie-Tooth disease type 2K
Autosomal dominant Charcot-Marie-Tooth disease type 2L
Autosomal dominant Charcot-Marie-Tooth disease type 2A1
Autosomal dominant Charcot-Marie-Tooth disease type 2A2
Autosomal dominant Charcot-Marie-Tooth disease type 2N
Autosomal dominant Charcot-Marie-Tooth disease type 2M
Autosomal dominant Charcot-Marie-Tooth disease type 2O
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2Q
Autosomal dominant Charcot-Marie-Tooth disease type 2U
Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
Autosomal dominant Charcot-Marie-Tooth disease type 2Y
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2V
Autosomal dominant Charcot-Marie-Tooth disease type 2Z
Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation
Autosomal dominant Charcot-Marie-Tooth disease type 2W
Autosomal dominant Charcot-Marie-Tooth disease type 2DD
Hereditary motor and sensory neuropathy type 5
Hereditary motor and sensory neuropathy, Okinawa type
Demyelinating hereditary motor and sensory neuropathy
Autosomal dominant hereditary demyelinating motor and sensory neuropathy
Autosomal dominant slowed nerve conduction velocity
PMP2-related Charcot-Marie-Tooth disease type 1
Hereditary sensorimotor neuropathy with hyperelastic skin
Autosomal recessive hereditary demyelinating motor and sensory neuropathy
Intermediate Charcot-Marie-Tooth disease
Autosomal dominant intermediate Charcot-Marie-Tooth disease
Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
Autosomal dominant intermediate Charcot-Marie-Tooth disease type A
Autosomal dominant intermediate Charcot-Marie-Tooth disease type B
Autosomal dominant intermediate Charcot-Marie-Tooth disease type C
Autosomal dominant intermediate Charcot-Marie-Tooth disease type D
Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
Autosomal recessive intermediate Charcot-Marie-Tooth disease
Autosomal recessive intermediate Charcot-Marie-Tooth disease type A
Autosomal recessive intermediate Charcot-Marie-Tooth disease type B
Autosomal recessive intermediate Charcot-Marie-Tooth disease type C
Familial recurrent peripheral facial palsy
Autosomal dominant distal hereditary motor neuropathy
Autosomal dominant congenital benign spinal muscular atrophy
Autosomal dominant spastic paraplegia type 17
Distal hereditary motor neuropathy type 1
Distal hereditary motor neuropathy type 2
Distal hereditary motor neuropathy type 5
Distal hereditary motor neuropathy type 7
HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome
Autosomal recessive distal hereditary motor neuropathy
Spinal muscular atrophy with respiratory distress type 1
Distal hereditary motor neuropathy, Jerash type
Young adult-onset distal hereditary motor neuropathy
X-linked distal hereditary motor neuropathy
Spinal muscular atrophy with respiratory distress type 2
Spinocerebellar ataxia with axonal neuropathy type 2
Spinocerebellar ataxia with axonal neuropathy type 1
Hereditary sensory and autonomic neuropathy
X-linked hereditary sensory and autonomic neuropathy with deafness
Autosomal dominant hereditary sensory and autonomic neuropathy
Hereditary sensory and autonomic neuropathy type 1B
Hereditary sensory and autonomic neuropathy type 7
Congenital insensitivity to pain syndrome, Marsili type
Autosomal recessive hereditary sensory and autonomic neuropathy
Hereditary sensory and autonomic neuropathy type 4
Hereditary sensory and autonomic neuropathy type 2
Hereditary sensory and autonomic neuropathy type 5
Congenital insensitivity to pain-anosmia-neuropathic arthropathy
Hereditary sensory and autonomic neuropathy with deafness and global delay
Mutilating hereditary sensory neuropathy with spastic paraplegia
Hereditary sensory and autonomic neuropathy type 6
Cold-induced sweating syndrome-hyperthermia spectrum
KLHL7-related Crisponi/cold-induced sweating-like syndrome
Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
Hereditary sensory and autonomic neuropathy type 8
Congenital insensitivity to pain with severe intellectual disability
Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation
Rare hereditary disease with peripheral neuropathy
Rare hereditary metabolic disease with peripheral neuropathy
Mitochondrial disease with peripheral neuropathy
Rare hereditary systemic disease with peripheral neuropathy
EMILIN-1-related connective tissue disease
Rare hereditary neurologic disease with peripheral neuropathy
Cerebellar ataxia with peripheral neuropathy
Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome
CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome
Hereditary sodium channelopathy-related small fibers neuropathy
Familial episodic pain syndrome with predominantly upper body involvement
Familial episodic pain syndrome with predominantly lower limb involvement
HTRA1-related cerebral small vessel disease
Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
HTRA1-related autosomal dominant cerebral small vessel disease
Bilateral striopallidodentate calcinosis
Genetic neurodegenerative disease with dementia
Early-onset autosomal dominant Alzheimer disease
Autosomal recessive congenital cerebellar ataxia
Autosomal recessive cerebelloparenchymal disorder type 3
Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency
Congenital cerebellar ataxia due to RNU12 mutation
Autosomal recessive metabolic cerebellar ataxia
Autosomal recessive cerebellar ataxia due to a DNA repair defect
Autosomal recessive degenerative and progressive cerebellar ataxia
Early-onset cerebellar ataxia with retained tendon reflexes
Posterior column ataxia-retinitis pigmentosa syndrome
Autosomal recessive syndromic cerebellar ataxia
Autosomal recessive cerebellar ataxia-movement disorder syndrome
Autosomal recessive cerebellar ataxia-psychomotor delay syndrome
Adult-onset autosomal recessive cerebellar ataxia
Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia
Infantile-onset autosomal recessive nonprogressive cerebellar ataxia
Spectrin-associated autosomal recessive cerebellar ataxia
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
Autosomal recessive cerebellar ataxia due to STUB1 deficiency
Autosomal dominant cerebellar ataxia type I
Non-progressive cerebellar ataxia with intellectual disability
PUM1-associated developmental disability-ataxia-seizure syndrome
Autosomal dominant cerebellar ataxia type III
Autosomal dominant cerebellar ataxia type IV
Autosomal dominant cerebellar ataxia type II
Genetic frontotemporal degeneration with dementia
Inclusion body myopathy with Paget disease of bone and frontotemporal dementia
Atypical progressive supranuclear palsy syndrome
Progressive supranuclear palsy-predominant parkinsonism syndrome
Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
Progressive supranuclear palsy-corticobasal syndrome
Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
Classic progressive supranuclear palsy syndrome
Behavioral variant of frontotemporal dementia
Frontotemporal dementia with motor neuron disease
Huntington disease-like syndrome due to C9ORF72 expansions
PRKAR1B-related neurodegenerative dementia with intermediate filaments
Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy
Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
Developmental delay with autism spectrum disorder and gait instability
Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract
GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance
FOXG1 syndrome due to intragenic alteration
Interstitial lung disease-brain calcification syndrome
Neurogenic scapuloperoneal syndrome, Kaeser type
Bulbospinal muscular atrophy of childhood
Generalized bulbospinal muscular atrophy
Spinal atrophy-ophthalmoplegia-pyramidal syndrome
Autosomal recessive lower motor neuron disease with childhood onset
Spinal muscular atrophy associated with central nervous system anomaly
Autosomal dominant proximal spinal muscular atrophy
Autosomal dominant adult-onset proximal spinal muscular atrophy
Lower motor neuron syndrome with late-adult onset
Autosomal dominant childhood-onset proximal spinal muscular atrophy
DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy
BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy
Infantile-onset ascending hereditary spastic paralysis
Spinal muscular atrophy-progressive myoclonic epilepsy syndrome
Vocal cord and pharyngeal distal myopathy
FLNC-related handgrip and calf weakness-distal myopathy
Late-onset distal myopathy, Markesbery-Griggs type
Adult-onset distal myopathy due to VCP mutation
KLHL9-related early-onset distal myopathy
HNRNPA1-related adult-onset distal myopathy
TARDBP-related predominantly upper-limb distal myopathy
Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy
Distal myopathy with anterior tibial onset
Autosomal recessive distal nebulin myopathy
Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome
Adenylosuccinate synthetase-like 1-related distal myopathy
Vacuolar myopathy with sarcoplasmic reticulum protein aggregates
Laminin subunit alpha 2-related congenital muscular dystrophy
Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome
Congenital muscular dystrophy with integrin alpha-7 deficiency
Congenital muscular dystrophy due to LMNA mutation
Congenital muscular dystrophy due to dystroglycanopathy
Congenital muscular dystrophy with hyperlaxity
Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome
Collagen VI-related congenital muscular dystrophy
Intermediate collagen VI-related muscular dystrophy
Congenital muscular dystrophy-cataract-intellectual disability syndrome
Autosomal dominant limb-girdle muscular dystrophy
Calpain-3-related limb-girdle muscular dystrophy D4
DNAJB6-related limb-girdle muscular dystrophy D1
TNP03-related limb-girdle muscular dystrophy D2
HNRNPDL-related limb-girdle muscular dystrophy D3
Autosomal recessive limb-girdle muscular dystrophy
Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23
Calpain-3-related limb-girdle muscular dystrophy R1
TRIM32-related limb-girdle muscular dystrophy R8
Dysferlin-related limb-girdle muscular dystrophy R2
Telethonin-related limb-girdle muscular dystrophy R7
Titin-related limb-girdle muscular dystrophy R10
Anoctamin-5-related limb-girdle muscular dystrophy R12
Plectin-related limb-girdle muscular dystrophy R17
TRAPPC11-related limb-girdle muscular dystrophy R18
TOR1AIP1-related limb-girdle muscular dystrophy
Autosomal recessive limb-girdle muscular dystrophy, type 28
X-linked myopathy with excessive autophagy
X-linked myopathy with postural muscle atrophy
Hereditary myopathy with early respiratory failure
Late-onset scapuloperoneal muscular dystrophy with hyaline bodies
X-linked scapuloperoneal muscular dystrophy
Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome
Progressive scapulohumeroperoneal distal myopathy
Proximal myopathy with focal depletion of mitochondria
Fatal infantile hypertonic myofibrillar myopathy
Hypercontractile muscle stiffness syndrome
Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome
Hereditary continuous muscle fiber activity
Congenital fiber-type disproportion myopathy
Intellectual disability-myopathy-short stature-endocrine defect syndrome
Autosomal recessive centronuclear myopathy
Autosomal dominant centronuclear myopathy
Symptomatic form of X-linked centronuclear myopathy in female carriers
Congenital myopathy with internal nuclei and atypical cores
Autosomal dominant myosin storage myopathy
Autosomal recessive myosin storage myopathy
Congenital myopathy with excess of thin filaments
Myopathy with hexagonally cross-linked tubular arrays
Congenital multicore myopathy with external ophthalmoplegia
Moderate multiminicore disease with hand involvement
Antenatal multiminicore disease with arthrogryposis multiplex congenita
Fetal akinesia-cerebral and retinal hemorrhage syndrome
Congenital myopathy with myasthenic-like onset
Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
Congenital myopathy with reduced type 2 muscle fibers
Metabolic myopathy due to lactate transporter defect
Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome
Desmin-related myopathy with Mallory body-like inclusions
Hereditary inclusion body myopathy type 4
Childhood-onset autosomal recessive myopathy with external ophthalmoplegia
Proximal myopathy with extrapyramidal signs
Periodic paralysis with transient compartment-like syndrome
Qualitative or quantitative protein defects in neuromuscular diseases
Qualitative or quantitative defects of sarcoglycan
Qualitative or quantitative defects of alpha-sarcoglycan
Qualitative or quantitative defects of beta-sarcoglycan
Qualitative or quantitative defects of gamma-sarcoglycan
Qualitative or quantitative defects of delta-sarcoglycan
Qualitative or quantitative defects of dysferlin
Qualitative or quantitative defects of caveolin-3
Isolated asymptomatic elevation of creatine phosphokinase
Qualitative or quantitative defects of dystrophin
Qualitative or quantitative defects of collagen 6
Laminin subunit alpha 2-related muscular dystrophy
Qualitative or quantitative defects of integrin alpha-7
Qualitative or quantitative defects of perlecan
Qualitative or quantitative defects of calpain
Qualitative or quantitative defects of TRIM32
Qualitative or quantitative defects of myotubularin
Qualitative or quantitative defects of myofibrillar proteins
Qualitative or quantitative defects of desmin
Qualitative or quantitative defects of alphaB-cristallin
Qualitative or quantitative defects of filamin C
Qualitative or quantitative defects of protein ZASP
Qualitative or quantitative defects of titin
Qualitative or quantitative defects of telethonin
Qualitative or quantitative defects of alpha-actin
Qualitative or quantitative defects of nebulin
Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)
Qualitative or quantitative defects of emerin
Qualitative or quantitative defects of selenoprotein N1
Qualitative or quantitative defects of plectin
Qualitative or quantitative defects of protein SERCA1
Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -
Qualitative or quantitative defects of troponin
Qualitative or quantitative defects of tropomyosin
Qualitative or quantitative defects of alpha-dystroglycan
Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan
Qualitative or quantitative defects of FKRP
Qualitative or quantitative defects of fukutin
Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase
Qualitative or quantitative defects of protein glycosyltransferase-like
Qualitative or quantitative defects of protein O-mannosyltransferase 1
Qualitative or quantitative defects of protein O-mannosyltransferase 2
Primary qualitative or quantitative defects of alpha-dystroglycan
Qualitative or quantitative defects of Torsin-1A-interacting protein 1
Genetic neurological muscular channelopathy
Neurological muscular channelopathy due to a genetic sodium channel defect
Neurological muscular channelopathy due to a genetic chloride channel defect
Neurological muscular channelopathy due to a genetic calcium channel defect
Neurological muscular channelopathy due to a genetic potassium channel defect
Neurological muscular channelopathy due to a genetic ryanodine receptor defect
Autosomal dominant pure spastic paraplegia
Autosomal dominant spastic paraplegia type 12
Autosomal dominant spastic paraplegia type 19
Autosomal dominant spastic paraplegia type 37
Autosomal dominant spastic paraplegia type 42
Autosomal dominant spastic paraplegia type 41
Autosomal dominant spastic paraplegia type 73
IFIH1-related hereditary spastic paraplegia
ADAR-related hereditary spastic paraplegia
Autosomal dominant spastic paraplegia type 80
Autosomal recessive pure spastic paraplegia
Autosomal recessive spastic paraplegia type 24
Autosomal recessive spastic paraplegia type 28
Autosomal recessive spastic paraplegia type 62
Autosomal recessive spastic paraplegia type 71
Autosomal recessive spastic paraplegia type 83
RNASEH2B-related hereditary spastic paraplegia
Autosomal dominant complex spastic paraplegia
Autosomal dominant spastic paraplegia type 9A
Spastic paraplegia-facial-cutaneous lesions syndrome
Spastic paraplegia-neuropathy-poikiloderma syndrome
Spastic paraplegia-precocious puberty syndrome
Autosomal dominant spastic paraplegia type 29
Autosomal dominant spastic paraplegia type 38
Autosomal dominant spastic paraplegia type 36
Spastic paraplegia-Paget disease of bone syndrome
Autosomal recessive complex spastic paraplegia
Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome
Autosomal recessive spastic paraplegia type 75
Spastic paraplegia-glaucoma-intellectual disability syndrome
Autosomal recessive spastic paraplegia type 20
Autosomal recessive spastic paraplegia type 23
Autosomal recessive spastic paraplegia type 25
Autosomal recessive spastic paraplegia type 26
Autosomal recessive spastic paraplegia type 32
Severe intellectual disability and progressive spastic paraplegia
Autosomal recessive spastic paraplegia type 53
Autosomal recessive spastic paraplegia type 43
Autosomal recessive spastic paraplegia type 54
Autosomal recessive spastic paraplegia type 46
Autosomal recessive spastic paraplegia type 44
Autosomal recessive spastic paraplegia type 61
Autosomal recessive spastic paraplegia type 59
Autosomal recessive spastic paraplegia type 60
Autosomal recessive spastic paraplegia type 63
Autosomal recessive spastic paraplegia type 64
Autosomal recessive spastic paraplegia type 66
Autosomal recessive spastic paraplegia type 69
Autosomal recessive spastic paraplegia type 70
Autosomal recessive spastic paraplegia type 9B
Autosomal recessive spastic paraplegia type 21
Autosomal recessive spastic paraplegia type 35
Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome
Autosomal recessive spastic paraplegia type 76
Autosomal recessive spastic paraplegia type 82
Autosomal recessive spastic paraplegia type 84
Autosomal recessive spastic paraplegia type 78
Autosomal recessive spastic paraplegia type 85
Autosomal recessive spastic paraplegia type 86
MT-ATP6-related mitochondrial spastic paraplegia
Pure or complex hereditary spastic paraplegia
Pure or complex autosomal dominant spastic paraplegia
Autosomal dominant spastic paraplegia type 3
Autosomal dominant spastic paraplegia type 4
Autosomal dominant spastic paraplegia type 6
Autosomal dominant spastic paraplegia type 10
Autosomal dominant spastic paraplegia type 13
Autosomal dominant spastic paraplegia type 31
Autosomal dominant spastic paraplegia type 9B
Autosomal dominant spastic paraplegia type 8
Pure or complex autosomal recessive spastic paraplegia
Autosomal recessive spastic paraplegia type 87
Autosomal recessive spastic paraplegia type 11
Autosomal recessive spastic paraplegia type 5A
Autosomal recessive spastic paraplegia type 14
Autosomal recessive spastic paraplegia type 45
Autosomal recessive spastic paraplegia type 56
Autosomal recessive spastic paraplegia type 27
Pure or complex X-linked spastic paraplegia
Facial onset sensory and motor neuronopathy
X-linked neurodegenerative syndrome, Bertini type
X-linked neurodegenerative syndrome, Hamel type
Childhood-onset benign chorea with striatal involvement
Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
Fatal post-viral neurodegenerative disorder
Sporadic infantile bilateral striatal necrosis
Familial infantile bilateral striatal necrosis
Fibrosis-neurodegeneration-cerebral angiomatosis syndrome
Childhood-onset basal ganglia degeneration syndrome
Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder
Genetic central nervous system and retinal vascular disease
Rare disorder with a moyamoya angiopathy
Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
Leukoencephalopathy with calcifications and cysts
COL4A1 or COL4A2-related cerebral small vessel disease
COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency
COL4A1/2-related familial vascular leukoencephalopathy
Familial isolated retinal arteriolar tortuosity
COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency
Pontine autosomal dominant microangiopathy with leukoencephalopathy
Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
Isolated spontaneous cervical artery dissection
Primary angiitis of the central nervous system
Genetic central nervous system malformation
Genetic non-syndromic central nervous system malformation
Genetic syndrome with a central nervous system malformation as a major feature
Genetic syndrome with a cerebellar malformation as a major feature
Genetic syndrome with a Dandy-Walker malformation as a major feature
Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
Amino acid or protein metabolism disease with epilepsy
Metal transport or utilization disorder with epilepsy
Energy metabolism disorder with epilepsy
Metabolic neurotransmission anomaly with epilepsy
Sterol metabolism disorder with epilepsy
Chromosomal anomaly with epilepsy as a major feature
Mesial temporal lobe epilepsy with hippocampal sclerosis
Developmental and epileptic encephalopathy with spike-wave activation in sleep
Self-limited childhood occipital epilepsy
Self-limited epilepsy with autonomic seizures
Rolandic epilepsy-speech dyspraxia syndrome
Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome
Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation
Hemiconvulsion-hemiplegia-epilepsy syndrome
Neonatal-infantile onset epilepsy syndrome
Benign infantile focal epilepsy with midline spikes and waves during sleep
CNTNAP2-related developmental and epileptic encephalopathy
Early-onset progressive encephalopathy with migrant continuous myoclonus
MECP2-related severe neonatal encephalopathy
SYNGAP1-related developmental and epileptic encephalopathy
Gelastic seizures with hypothalamic hamartoma
Myoclonic epilepsy in non-progressive encephalopathies
Epilepsy with generalized tonic-clonic seizures alone
Familial focal epilepsy with variable foci
Familial encephalopathy with neuroserpin inclusion bodies
Progressive dementia with neuroserpin inclusion bodies
Progressive myoclonic epilepsy with neuroserpin inclusion bodies
PRDM8-related progressive myoclonus epilepsy
X-linked intellectual disability-epilepsy syndrome
X-linked intellectual disability, Hedera type
X-linked epilepsy-learning disabilities-behavior disorders syndrome
X-linked spasticity-intellectual disability-epilepsy syndrome
Infantile epileptic-dyskinetic encephalopathy
Progressive myoclonic epilepsy with dystonia
Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression
Lethal neonatal spasticity-epileptic encephalopathy syndrome
Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome
Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome
Rare non-syndromic intellectual disability
X-linked non-syndromic intellectual disability
Autosomal recessive non-syndromic intellectual disability
Autosomal dominant non-syndromic intellectual disability
GNAO1-related developmental delay-seizures-movement disorder spectrum
Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
Cerebral diseases of vascular origin with epilepsy
Ataxia-tapetoretinal degeneration syndrome
Ataxia-hypogonadism-choroidal dystrophy syndrome
Spinocerebellar ataxia-dysmorphism syndrome
Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome
X-linked intellectual disability-ataxia-apraxia syndrome
Fragile X-associated tremor/ataxia syndrome
X-linked non progressive cerebellar ataxia
Autosomal dominant spastic ataxia type 1
Autosomal recessive spastic ataxia of Charlevoix-Saguenay
Spastic ataxia-corneal dystrophy syndrome
Rare genetic hyperkinetic movement disorder
Rare genetic disease with myoclonus as a major feature
Epilepsy and/or ataxia with myoclonus as a major feature
Non progressive epilepsy and/or ataxia with myoclonus as a major feature
Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity
Benign paroxysmal torticollis of infancy
Blepharospasm-oromandibular dystonia syndrome
Autosomal dominant focal dystonia, DYT25 type
Cranio-cervical dystonia with laryngeal and upper-limb involvement
Adult-onset cervical dystonia, DYT23 type
Infantile-onset generalized dyskinesia with orofacial involvement
Early-onset generalized limb-onset dystonia
Rare disorder with dystonia and other neurologic or systemic manifestation
IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation
Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion
Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome
Benign paroxysmal tonic upgaze of childhood with ataxia
Rare parkinsonian syndrome due to genetic neurodegenerative disease
Early-onset parkinsonism-intellectual disability syndrome
Autosomal dominant striatal neurodegeneration
X-linked parkinsonism-spasticity syndrome
Miscellaneous movement disorder due to genetic neurodegenerative disease
Frontotemporal neurodegeneration with movement disorder
Intellectual disability-hyperkinetic movement-truncal ataxia syndrome
Rare genetic syndromic intellectual disability
Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability
Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome
Hereditary cryohydrocytosis with reduced stomatin
Growth delay-intellectual disability-hepatopathy syndrome
Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome
Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome
Hao-Fountain syndrome due to USP7 mutation
Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome
Actinomyopathy-associated syndromic thrombocytopenia
Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency
Marbach-Schaaf neurodevelopmental syndrome
Growth delay due to insulin-like growth factor type 1 deficiency
Autosomal recessive proximal renal tubular acidosis
X-linked intellectual disability with isolated growth hormone deficiency
X-linked intellectual disability, Cantagrel type
X-linked intellectual disability, Wilson type
Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
Intellectual disability-alacrima-achalasia syndrome
ANK3-related intellectual disability-sleep disturbance syndrome
Optic atrophy-intellectual disability syndrome
Familial acute necrotizing encephalopathy
Growth delay due to insulin-like growth factor I resistance
Isolated permanent neonatal diabetes mellitus
Intellectual disability-expressive aphasia-facial dysmorphism syndrome
X-linked intellectual disability-hypotonia-movement disorder syndrome
Intellectual disability-epilepsy-extrapyramidal syndrome
Infantile inflammatory bowel disease with neurological involvement
Infantile choroidocerebral calcification syndrome
Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome
Laryngeal abductor paralysis-intellectual disability syndrome
X-linked intellectual disability-psychosis-macroorchidism syndrome
AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
Non-specific syndromic intellectual disability
Benign nocturnal alternating hemiplegia of childhood
Inherited congenital spastic tetraplegia
Rare genetic autonomic nervous system disorder
Congenital central hypoventilation syndrome
Peripheral motor neuropathy-dysautonomia syndrome
Postural orthostatic tachycardia syndrome due to NET deficiency
Dentin dysplasia-sclerotic bones syndrome
Rare disease with dentinogenesis imperfecta
Rare genetic odontal or periodontal disorder
Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism
Atypical dentin dysplasia due to SMOC2 deficiency
Hereditary angioedema with C1Inh deficiency
F12-related hereditary angioedema with normal C1Inh
PLG-related hereditary angioedema with normal C1Inh
Hereditary angioedema with normal C1Inh not related to F12 or PLG variant
Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
Rare X-linked non-syndromic sensorineural deafness type DFN
Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
Genetic otorhinolaryngological malformation
Autosomal recessive polycystic kidney disease
Adult familial nephronophthisis-spastic quadriparesia syndrome
Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome
Autosomal dominant polycystic kidney disease
Autosomal dominant tubulointerstitial kidney disease
MUC1-related autosomal dominant tubulointerstitial kidney disease
UMOD-related autosomal dominant tubulointerstitial kidney disease
REN-related autosomal dominant tubulointerstitial kidney disease
Nephropathy secondary to a storage or other metabolic disease
Autosomal recessive infantile hypercalcemia
Congenital disorder of glycosylation with nephropathy as a major feature
Hematological disorder with renal involvement
Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene
Familial hyperthyroidism due to mutations in TSH receptor
Autosomal dominant progressive nephropathy with hypertension
Hypertension due to gain-of-function mutations in the mineralocorticoid receptor
Genetic renal or urinary tract malformation
Genetic non-syndromic renal or urinary tract malformation
Genetic systemic disease with glomerulopathy as a major feature
Hereditary amyloidosis with primary renal involvement
Autoimmune interstitial lung disease-arthritis syndrome
Hypocomplementemic urticarial vasculitis
Disorder with multisystemic involvement and glomerulopathy
Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization
Primary membranoproliferative glomerulonephritis
Immunoglobulin-mediated membranoproliferative glomerulonephritis
Collagen-related glomerular basement membrane disease
Congenital nephrotic syndrome, Finnish type
Hereditary steroid-resistant nephrotic syndrome
Congenital thrombotic thrombocytopenic purpura
Atypical hemolytic uremic syndrome with complement gene abnormality
Atypical hemolytic uremic syndrome with anti-factor H antibodies
Hemolytic uremic syndrome with DGKE deficiency
Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome
Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome
Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
Generalized pseudohypoaldosteronism type 1
Nephrogenic syndrome of inappropriate antidiuresis
Autosomal dominant distal renal tubular acidosis
Distal renal tubular acidosis with anemia
Autosomal dominant proximal renal tubular acidosis
Cataract-nephropathy-encephalopathy syndrome
Rare genetic disorder of the visual organs
Structural developmental eye defect of genetic origin
Rare genetic disorder of the anterior segment of the eye
Rare genetic disorder with corneal involvement as a major feature
Subepithelial mucinous corneal dystrophy
Hereditary benign intraepithelial dyskeratosis
Congenital hereditary endothelial dystrophy type II
Rare genetic inflammatory/autoimmune corneal disorder
Ectopia lentis-chorioretinal dystrophy-myopia syndrome
Rare genetic disorder with lens opacification
Congenital cataract-anterior segment dysgenesis syndrome
Persistent hyperplastic primary vitreous
Foveal hypoplasia-presenile cataract syndrome
Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome
Congenital cataract microcornea with corneal opacity
Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
Familial isolated hypoparathyroidism due to impaired PTH secretion
Hypergonadotropic hypogonadism-cataract syndrome
Anterior segment developmental anomaly of genetic origin
Rare genetic disorder with conjunctival involvement as a major feature
Rare genetic ophthalmic disorder with cranial nerve involvement
Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome
Autosomal recessive isolated optic atrophy
Congenital optic disc excavation of genetic origin
Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
Familial congenital palsy of trochlear nerve
Rare genetic ophthalmic disorder with cortical involvement
Rare genetic ocular motility/alignment disorder
Syndromic genetic disorder with strabismus
Rare genetic neuromuscular disorder with ocular motility/alignment anomaly
Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature
Rare genetic disorder of the ocular adnexa
Rare genetic disorder of the lacrimal apparatus
Lacrimal drainage system anomaly of genetic origin
Rare genetic eyelid malposition disorder
Rare genetic disorder of the posterior segment of the eye
Rare genetic generalized retinal disorder
Rare non-progressive generalized retinal disorder
Rare isolated non-progressive generalized retinal disorder
Congenital stationary night blindness, Riggs type
Congenital stationary night blindness, Schubert-Bornschein type
Complete congenital stationary night blindness, Schubert-Bornschein type
Incomplete congenital stationary night blindness, Schubert-Bornschein type
X-linked cone dysfunction syndrome with myopia
Benign concentric annular macular dystrophy
Rare disorder with non-progressive generalized retinal disorder as a major feature
Rare genetic progressive generalized retinal disorder
Rare genetic isolated progressive generalized retinal disorder
Severe early-childhood-onset retinal dystrophy
Cone dystrophy with supernormal rod response
Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies
Rare disorder with progressive generalized retinal disorder as a major feature
Cone rod dystrophy-short stature syndrome
Primary ciliary dyskinesia-retinitis pigmentosa syndrome
Retinal degeneration-nanophthalmos-glaucoma syndrome
Rare genetic predominantly chorioretinal disorder
Rare genetic non-progressive predominantly chorioretinal disorder
Rare genetic isolated non-progressive predominantly chorioretinal disorder
Pigmented paravenous retinochoroidal atrophy
Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature
Microcornea-myopic chorioretinal atrophy-telecanthus syndrome
Rare genetic progressive predominantly chorioretinal disorder
Rare disorder with progressive predominantly chorioretinal disorder as a major feature
Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
Rare genetic isolated progressive predominantly chorioretinal disorder
Helicoid peripapillary chorioretinal degeneration
Progressive bifocal chorioretinal atrophy
Rare genetic non-progressive predominantly macular disorder
Rare genetic isolated non-progressive predominantly macular disorder
Rare disorder with non-progressive predominantly macular disorder as a major feature
Rare genetic progressive predominantly macular disorder
Rare genetic isolated progressive predominantly macular disorder
Martinique crinkled retinal pigment epitheliopathy
Adult-onset foveomacular vitelliform dystrophy
Reticular dystrophy of the retinal pigment epithelium
Multifocal pattern dystrophy simulating fundus flavimaculatus
Rare disorder with progressive predominantly macular disorder as a major feature
Rare genetic non-progressive retinal vasculopathy
Rare genetic progressive retinal vasculopathy
Rare genetic isolated progressive retinal vasculopathy
Autosomal dominant neovascular inflammatory vitreoretinopathy
Rare genetic disorder with progressive vasculopathy disorder as a major feature
Rare isolated progressive vitreoretinopathy
Autosomal dominant rhegmatogenous retinal detachment
Rare disorder with progressive vitreoretinopathy disorder as a major feature
Rare genetic disorder involving multiple structures of the eye
Pediatric-onset glaucoma of genetic origin
Secondary early-onset glaucoma of genetic origin
Genetic congenital malformation of the eye with glaucoma as a major feature
Rare disease with glaucoma as a major feature
Microcornea-glaucoma-absent frontal sinuses syndrome
Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome
Melanoma and neural system tumor syndrome
Polymalformative genetic syndrome with increased risk of developing cancer
Constitutional mismatch repair deficiency syndrome
BAP1-related tumor predisposition syndrome
MITF-related melanoma and renal cell carcinoma predisposition syndrome
Inherited renal cancer-predisposing syndrome
Hereditary papillary renal cell carcinoma
Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
Hereditary clear cell renal cell carcinoma
Combined immunodeficiency due to OX40 deficiency
MBD4-related tumor predisposition syndrome
Inherited cancer-predisposing lymphoproliferative syndrome
Combined immunodeficiency due to dimerization defective IKAROS mutation
Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome
EBV-induced lymphoproliferative disease due to CARMIL2 deficiency
X-linked lymphoproliferative disease due to SAP deficiency
Familial hemophagocytic lymphohistiocytosis
RAS-associated autoimmune leukoproliferative disease
Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency
Combined immunodeficiency due to CD27 deficiency
Dianzani autoimmune lymphoproliferative disease
EBV-induced lymphoproliferative disease due to CD70 deficiency
Combined immunodeficiency due to ITK deficiency
EBV-induced lymphoproliferative disease due to PRKCD deficiency
EBV-induced lymphoproliferative disease due to RASGRP1 deficiency
EBV-induced lymphoproliferative disease due to CD137 deficiency
EBV-induced lymphoproliferative disease due to TET2 deficiency
Severe combined immunodeficiency due to CTPS1 deficiency
RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome
Inherited gynecological cancer-predisposing syndrome
Inherited hematologic cancer-predisposing syndrome
Familial platelet disorder with associated myeloid malignancy
B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
B-lymphoblastic leukemia/lymphoma with t(17;19)
B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
B-lymphoblastic leukemia/lymphoma with hyperdiploidy
B-lymphoblastic leukemia/lymphoma with hypodiploidy
B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
DDX41-related hematologic malignancy predisposition syndrome
Transient familial neonatal hyperbilirubinemia
Hepatic veno-occlusive disease-immunodeficiency syndrome
Congenital disorder of glycosylation with hepatic involvement
Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
Fever-associated acute infantile liver failure syndrome
Transient infantile hypertriglyceridemia and hepatosteatosis
Acute infantile liver failure-multisystemic involvement syndrome
Growth retardation-mild developmental delay-chronic hepatitis syndrome
Low phospholipid-associated cholelithiasis
Isolated neonatal sclerosing cholangitis
Idiopathic/heritable pulmonary arterial hypertension
Idiopathic pulmonary arterial hypertension
Heritable pulmonary arterial hypertension
Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies
Neonatal acute respiratory distress syndrome
Hereditary pulmonary alveolar proteinosis
Interstitial lung disease due to ABCA3 deficiency
Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
Chronic respiratory distress with surfactant metabolism deficiency
Interstitial lung disease due to SP-C deficiency
Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
Genetic 46,XX difference of sex development
Genetic 46,XY difference of sex development
Genetic 46,XY difference of sex development of endocrine origin
Microcephalic primordial dwarfism-insulin resistance syndrome
Fragile X-associated primary ovarian insufficiency
Obesity due to congenital leptin deficiency
Obesity due to congenital leptin resistance
Obesity due to pro-opiomelanocortin deficiency
Obesity due to prohormone convertase I deficiency
Obesity due to melanocortin 4 receptor deficiency
Obesity due to leptin receptor gene deficiency
Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency
Non-acquired pituitary hormone deficiency
Non-acquired isolated growth hormone deficiency
Short stature due to growth hormone qualitative anomaly
Isolated growth hormone deficiency type IA
Isolated growth hormone deficiency type IB
Isolated growth hormone deficiency type II
Isolated growth hormone deficiency type III
Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia
Isolated growth hormone deficiency type IV
Non-acquired combined pituitary hormone deficiency
Disease associated with non-acquired combined pituitary hormone deficiency
Short stature-pituitary and cerebellar defects-small sella turcica syndrome
Deficiency in anterior pituitary function-variable immunodeficiency syndrome
Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations
Combined pituitary hormone deficiencies, genetic forms
Isolated thyroid-stimulating hormone deficiency
Congenital hypogonadotropic hypogonadism
Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism
Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome
Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature
Isolated congenital hypogonadotropic hypogonadism
Normosmic congenital hypogonadotropic hypogonadism
Isolated follicle stimulating hormone deficiency
Familial peripheral male-limited precocious puberty
Genetic central precocious puberty in male
Genetic central precocious puberty in female
Short stature due to primary acid-labile subunit deficiency
Short stature due to partial GHR deficiency
Muscular pseudohypertrophy-hypothyroidism syndrome
Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome
Congenital hypothyroidism due to developmental anomaly
Primary congenital hypothyroidism without thyroid developmental anomaly
Hypothyroidism due to TSH receptor mutations
Resistance to thyrotropin-releasing hormone syndrome
Hypothyroidism due to deficient transcription factors involved in pituitary development or function
Isolated thyrotropin-releasing hormone deficiency
X-linked central congenital hypothyroidism with late-onset testicular enlargement
Rare disorder with hypergonadotropic hypogonadism
Primary hypergonadotropic hypogonadism-partial alopecia syndrome
Short fifth metacarpals-insulin resistance syndrome
Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
Rare genetic hypothalamic or pituitary disease
Hereditary arginine vasopressin deficiency
Genetic transient congenital hypothyroidism
Syndrome of reduced sensitivity to thyroid hormone
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta
Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha
Short stature-delayed bone age due to thyroid hormone metabolism deficiency
Euthyroid dysprealbuminemic hyperthyroxinemia
Rare genetic parathyroid disease and phosphocalcic metabolism disorder
Pseudoleprechaunism syndrome, Patterson type
Genetic chronic primary adrenal insufficiency
Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency
Hyperandrogenism due to cortisone reductase deficiency
Corticosteroid-binding globulin deficiency
Primary hyperaldosteronism-seizures-neurological abnormalities syndrome
Cushing syndrome due to bilateral macronodular adrenocortical disease
Non-insulinoma pancreatogenous hypoglycemia syndrome
Unstable gamma globin chain variant disease
Low oxygen affinity alpha chain hemoglobin disease
Low oxygen affinity beta chain hemoglobin disease
Low oxygen affinity gamma chain hemoglobin disease
Unstable alpha globin chain variant disease
Syndrome with alpha-thalassemia as a major feature
Alpha-thalassemia-myelodysplastic syndrome
Beta-thalassemia associated with another hemoglobin anomaly
Hemoglobin E-beta-thalassemia intermedia
Hemoglobin Lepore-beta-thalassemia syndrome
Hemoglobin Lepore-beta-thalassemia intermedia
Hemoglobin Lepore-beta-thalassemia major
Beta-thalassemia-X-linked thrombocytopenia syndrome
Unstable beta globin chain variant disease
Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome
Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome
Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant
Sickle cell S-other specified hemoglobin variant
Autosomal recessive sideroblastic anemia
Severe congenital hypochromic anemia with ringed sideroblasts
Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome
Congenital amegakaryocytic thrombocytopenia
Autosomal dominant aplasia and myelodysplasia
Pancytopenia-developmental delay syndrome
Rare constitutional hemolytic anemia due to a red cell membrane anomaly
Hereditary cryohydrocytosis with normal stomatin
Constitutional hemolytic anemia due to acanthocytosis
Rare constitutional hemolytic anemia due to an enzyme disorder
Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies
Hemolytic anemia due to glutathione reductase deficiency
6-phosphogluconate dehydrogenase deficiency
Hemolytic anemia due to a disorder of glycolytic enzymes
Non-spherocytic hemolytic anemia due to hexokinase deficiency
Class I glucose-6-phosphate dehydrogenase deficiency
Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder
Hemolytic anemia due to adenylate kinase deficiency
Constitutional anemia due to iron metabolism disorder
Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder
Constitutional megaloblastic anemia due to folate metabolism disorder
Vitamin B12- and folate-independent constitutional megaloblastic anemia
Thrombocytopenia with congenital dyserythropoietic anemia
Congenital dyserythropoietic anemia type I
Congenital dyserythropoietic anemia type III
Congenital dyserythropoietic anemia type IV
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
Rare hemorrhagic disorder due to a constitutional coagulation factors defect
Combined deficiency of factor VII and factor X
Bleeding disorder in hemophilia A carriers
Bleeding disorder in hemophilia B carriers
Congenital alpha2-antiplasmin deficiency
Congenital plasminogen activator inhibitor type 1 deficiency
Congenital high-molecular-weight kininogen deficiency
Combined deficiency of factor V and factor VIII
Congenital vitamin K-dependent coagulation factors deficiency
Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation
Factor V short isoforms-related bleeding disorder
Thrombomodulin-related bleeding disorder
Rare hemorrhagic disorder due to a constitutional platelet anomaly
Rare hemorrhagic disorder due to a constitutional thrombocytopenia
Syndromic constitutional thrombocytopenia
Periodic fever-immunodeficiency-thrombocytopenia syndrome
Hereditary thrombocytopenia with early-onset myelofibrosis
Macrothrombocytopenia with mitral valve insufficiency
Isolated constitutional thrombocytopenia
Isolated hereditary giant platelet disorder
Severe autosomal recessive macrothrombocytopenia
Autosomal dominant macrothrombocytopenia
Hereditary thrombocytopenia with normal platelets
X-linked thrombocytopenia with normal platelets
Autosomal thrombocytopenia with normal platelets
Bleeding diathesis due to thromboxane synthesis deficiency
Autosomal dominant thrombocytopenia with platelet secretion defect
Congenital autosomal recessive small-platelet thrombocytopenia
Rare hemorrhagic disorder due to a qualitative platelet defect
Bleeding diathesis due to a collagen receptor defect
Bleeding diathesis due to glycoprotein VI deficiency
Bleeding diathesis due to integrin alpha2-beta1 deficiency
Bleeding disorder due to CalDAG-GEFI deficiency
Rare thrombotic disorder due to a constitutional coagulation factors defect
Severe hereditary thrombophilia due to congenital protein S deficiency
Severe hereditary thrombophilia due to congenital protein C deficiency
Hereditary thrombophilia due to congenital antithrombin deficiency
Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency
Rare thrombotic disorder due to a constitutional platelet anomaly
Autosomal recessive secondary polycythemia not associated with VHL gene
Autosomal dominant secondary polycythemia
Rare genetic gastroenterological disease
Genetic intestinal disease due to fat malabsorption
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome
Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome
X-linked lymphoproliferative disease due to XIAP deficiency
X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency
Lysosomal storage disease with skeletal involvement
Rare bone disease related to a common gene or pathway defect
Familial avascular necrosis of femoral head
Rare hereditary disease with avascular necrosis
Dysostosis of genetic origin with limb anomaly as a major feature
Genetic syndrome with limb reduction defects
Rare genetic developmental defect during embryogenesis
Genetic multiple congenital anomalies/dysmorphic syndrome
Genetic lethal multiple congenital anomalies/dysmorphic syndrome
Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability
Genetic syndrome with limb malformations as a major feature
Genetic syndromic esophageal malformation
Genetic visceral malformation of the liver, biliary tract, pancreas or spleen
Genetic respiratory or mediastinal malformation
Genetic malformation syndrome with short stature
Genetic branchial arch or oral-acral syndrome
Genetic malformation syndrome with odontal and/or periodontal component
Genetic complex vascular malformation with associated anomalies
Rare genetic gynecological and obstetrical diseases
Hereditary breast and/or ovarian cancer syndrome
Isolated congenital breast hypoplasia/aplasia
Anomaly of puberty or/and menstrual cycle of genetic origin
Genetic difference of sex development of gynecological interest
Gonadal dysgenesis of gynecological interest
46,XY difference of sex development of gynecological interest
Syndrome with difference of sex development of gynecological interest
Primary immunodeficiency due to a defect in innate immunity
Quantitative and/or qualitative congenital phagocyte defect
Autosomal dominant severe congenital neutropenia
Autosomal recessive severe congenital neutropenia
Severe congenital neutropenia due to G6PC3 deficiency
Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
Severe congenital neutropenia due to JAGN1 deficiency
Syndrome with congenital neutropenia as a major feature
TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome
Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
Congenital neutropenia-myelofibrosis-nephromegaly syndrome
Recurrent infections due to specific granule deficiency
Non-syndromic congenital phagocyte functional defect
Infantile LAD-like disease due to RAC2 deficiency
Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency
Syndrome with congenital phagocyte functional defect as a major feature
Immunodeficiency due to a complement cascade protein anomaly
Immunodeficiency due to a complement cascade component deficiency
Immunodeficiency due to MASP-2 deficiency
Immunodeficiency due to ficolin3 deficiency
Immunodeficiency due to a classical component pathway complement deficiency
Immunodeficiency due to a late component of complement deficiency
Immunodeficiency due to a complement regulatory deficiency
Recurrent Neisseria infections due to factor D deficiency
Genetic susceptibility to infections due to particular pathogens
T-cell immunodeficiency with epidermodysplasia verruciformis
Mendelian susceptibility to mycobacterial diseases
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency
Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency
Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Susceptibility to infection due to TYK2 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
X-linked mendelian susceptibility to mycobacterial diseases
Transient predisposition to invasive pyogenic bacterial infection
Susceptibility to viral and mycobacterial infections due to STAT1 deficiency
Predisposition to invasive fungal disease due to CARD9 deficiency
Autoinflammatory syndrome with immune deficiency
PLCG2-associated antibody deficiency and immune dysregulation
Familial hyperinflammatory lymphoproliferative immunodeficiency
CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome
Other immunodeficiency syndromes due to defects in innate immunity
Primary immunodeficiency with predisposition to severe viral infection
Predisposition to severe viral infection due to IRF7 deficiency
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
Primary immunodeficiency due to a defect in adaptive immunity
T-cell immunodeficiency with thymic aplasia
Severe combined immunodeficiency due to LAT deficiency
T-B+ severe combined immunodeficiency due to gamma chain deficiency
T-B+ severe combined immunodeficiency due to JAK3 deficiency
T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency
T-B+ severe combined immunodeficiency due to CD45 deficiency
T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta
Severe combined immunodeficiency due to CORO1A deficiency
Severe combined immunodeficiency due to FOXN1 deficiency
Severe combined immunodeficiency due to DCLRE1C deficiency
Short-limb skeletal dysplasia with severe combined immunodeficiency
Severe combined immunodeficiency due to DNA-PKcs deficiency
Severe combined immunodeficiency due to complete RAG1/2 deficiency
Reticular dysgenesis-like severe combined immunodeficiency
Combined immunodeficiency due to ZAP70 deficiency
Immunodeficiency by defective expression of MHC class I
Combined immunodeficiency due to CD3gamma deficiency
Susceptibility to respiratory infections associated with CD8alpha chain mutation
Combined immunodeficiency due to partial RAG1 deficiency
X-linked combined immunodeficiency due to SASH3 deficiency
Combined immunodeficiency due to FOXN1 haploinsufficiency
Combined immunodeficiency due to FCHO1 deficiency
Combined immunodeficiency with low immunoglobulins and normal B cells
Late-onset combined immunodeficiency due to ICOSL deficiency
Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency
Combined immunodeficiency due to c-REL deficiency
Combined immunodeficiency with low Ig due to BCL10 deficiency
Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation
Combined immunodeficiency due to HELIOS deficiency
Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency
Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency
Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency
Late-onset combined immunodeficiency due to ICOS deficiency
Combined immunodeficiency due to IKBKB deficiency
Hyper-IgM syndrome with susceptibility to opportunistic infections
Combined immunodeficiency due to DOCK2 deficiency
Combined immunodeficiency due to CARD11 deficiency
Combined immunodeficiency due to TFRC deficiency
Combined immunodeficiency due to IL21R deficiency
Combined immunodeficiency with normal Ig and poor specific antibody response
Combined immunodeficiency due to MALT1 deficiency
Combined immunodeficiency due to RELB deficiency
Combined immunodeficiency with low B cells and hypogammaglobulinemia
Combined immunodeficiency due to IKBKB gain-of-function mutation
Combined immunodeficiency due to DOCK8 deficiency
Combined immunodeficiency due to STK4 deficiency
Combined immunodeficiency due to Moesin deficiency
Immunodeficiency predominantly affecting antibody production
Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells
Immunodeficiency due to selective anti-polysaccharide antibody deficiency
Autosomal non-syndromic agammaglobulinemia
Agammaglobulinemia-skin involvement-failure to thrive syndrome
Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells
Transient hypogammaglobulinemia of infancy
Recurrent infections associated with rare immunoglobulin isotypes deficiency
Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells
Hyper-IgM syndrome without susceptibility to opportunistic infections
Common variable immunodeficiency and related disorders
Common variable immunodeficiency phenotype due to germinal monogenic mutation
Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency
Common variable immunodeficiency phenotype due to SEC61A1 deficiency
X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency
Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency
Common variable immunodeficiency phenotype due to TWEAK deficiency
Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency
Common variable immunodeficiency phenotype due to homozygous TACI deficiency
Common variable immunodeficiency phenotype due to IRF2BP2 deficiency
Common variable immunodeficiency phenotype due to CD21 deficiency
Common variable immunodeficiency phenotype due to CD19/CD81 deficiency
Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations
Common variable immunodeficiency phenotype due to somatic mutations
Immune dysregulation disease with immunodeficiency
Primary hemophagocytic lymphohistiocytosis
Primary hemophagocytic lymphohistiocytosis with hypopigmentation
Primary hemophagocytic lymphohistiocytosis without hypopigmentation
Immunodeficiency syndrome with autoimmunity
Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency
Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency
Early-onset immune dysregulation due to DOCK11 complete deficiency
Immune dysregulation disease with immunodeficiency associated with EBV susceptibility
EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature
Absent thumb-short stature-immunodeficiency syndrome
Combined immunodeficiency due to CRAC channel dysfunction
Combined immunodeficiency due to ORAI1 deficiency
Combined immunodeficiency due to STIM1 deficiency
DNA repair defect other than combined T-cell and B-cell immunodeficiencies
Combined immunodeficiency due to GINS1 deficiency
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis
Syndome with combined immunodeficiency due to thymic defect
Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency
Generalized arterial calcification of infancy
Rare disease with thoracic aortic aneurysm and aortic dissection
Familial thoracic aortic aneurysm and aortic dissection
Hereditary arterial and articular multiple calcification syndrome
Rare genetic systemic or rheumatologic disease
Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome
Progeroid and marfanoid aspect-lipodystrophy syndrome
Rare hereditary connective tissue disease
Marfan syndrome and Marfan-related disorders
Rare hereditary autoinflammatory disease
Infantile-onset periodic fever-panniculitis-dermatosis syndrome
NEMO deleted exon 5 autoinflammatory syndrome
Mixed autoinflammatory and autoimmune syndrome
Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
Male infertility due to gonadal dysgenesis or sperm disorder
Male infertility due to gonadal dysgenesis
Male infertility with spermatogenesis disorder
Male infertility with spermatogenesis disorder due to single gene mutation
Male infertility with azoospermia or oligozoospermia due to single gene mutation
Male infertility with teratozoospermia due to single gene mutation
Male infertility due to acephalic spermatozoa
Male infertility due to large-headed multiflagellar polyploid spermatozoa
Male infertility due to sperm motility disorder
Non-syndromic male infertility due to sperm motility disorder
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
Rare male infertility due to testicular endocrine disorder
Rare male infertility due to adrenal disorder of genetic origin
Male infertility due to obstructive azoospermia of genetic origin
Rare genetic disorder with obstructive azoospermia
Rare female infertility due to gonadal dysgenesis
Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin
Rare female infertility due to a congenital hypogonadotropic hypogonadism
Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism
Rare female infertility due to adrenal disorder of genetic origin
Rare female infertility due to an anomaly of ovarian function of genetic origin
Female infertility due to an implantation defect of genetic origin
Rare female infertility due to oocyte maturation defect
Female infertility due to oocyte meiotic arrest
Female infertility due to zona pellucida defect
Laminopathy with striated muscle involvement
Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene
Retinal ciliopathy due to mutation in the RPGR gene
Retinal ciliopathy due to mutation in the RPGRIP gene
Retinal ciliopathy due to mutation in Usher gene
Retinal ciliopathy due to mutation in nephronophthisis gene
Retinal ciliopathy due to mutation in Bardet-Biedl gene
Serpinopathy with toxic serpin polymerization
Serpinopathy with loss of serpin function
Moderate and severe traumatic brain injury
Acute encephalopathy with inflammation-mediated status epilepticus
Febrile infection-related epilepsy syndrome
Acute encephalopathy with biphasic seizures and late reduced diffusion
Inflammatory and autoimmune disease with epilepsy
Celiac disease-epilepsy-cerebral calcification syndrome
Non-specific autoimmune supratentorial encephalitis with characteristic antibodies
Non-specific autoimmune supratentorial encephalitis without characteristic antibodies
Acute disseminated encephalomyelitis with anti-MOG antibodies
Acute disseminated encephalomyelitis without anti-MOG antibodies
Acute transverse myelitis with anti-MOG antibodies
Multiple system atrophy, cerebellar type
Sporadic adult-onset ataxia of unknown etiology
Non-specific autoimmune cerebellar ataxia without characteristic antibodies
Non-specific autoimmune cerebellar ataxia with characteristic antibodies
Steroid-responsive encephalopathy associated with autoimmune thyroiditis
Progressive encephalomyelitis with rigidity and myoclonus
Rare parkinsonian syndrome due to neurodegenerative disease
Multiple system atrophy, parkinsonian type
Rare parkinsonian syndrome due to intoxication
Delayed encephalopathy due to carbon monoxide poisoning
Off-periods in Parkinson disease not responding to oral treatment
Miscellaneous movement disorder due to neurodegenerative disease
Tremor-nystagmus-duodenal ulcer syndrome
Postinfectious autoimmune disease with chorea
Rare disease with myoclonus as a major feature
Rare neuroinflammatory or neuroimmunological disease
Chronic relapsing inflammatory optic neuritis
Acute inflammatory demyelinating polyradiculoneuropathy
Acute motor and sensory axonal neuropathy
Regional variant of Guillain-Barré syndrome
Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome
Functional variant of Guillain-Barré syndrome
Paraparetic variant of Guillain-Barré syndrome
Chronic inflammatory demyelinating polyneuropathy
Paraneoplastic isolated brainstem encephalitis
Non-specific autoimmune brainstem encephalitis with characteristic antibodies
Non-specific autoimmune brainstem encephalitis without characteristic antibodies
Posttransplant acute limbic encephalitis
Progressive multifocal leukoencephalopathy
Acute necrotizing encephalopathy of childhood
Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies
Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies
Neuromyelitis optica spectrum disorder with anti-MOG antibodies
Frontotemporal degeneration with dementia
Inherited nervous system cancer-predisposing syndrome
Hypothalamic adipsic hypernatraemia syndrome
Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
Inflammatory myopathy with abundant macrophages
Juvenile idiopathic inflammatory myopathy
Infectious, fungal or parasitic myopathy
Immune-mediated acquired neuromuscular junction disease
Rippling muscle disease with myasthenia gravis
Rare central nervous system and retinal vascular disease
Idiopathic macular telangiectasia type 1
Idiopathic macular telangiectasia type 3
Acquired aneurysmal subarachnoid hemorrhage
Congenital retinal arteriovenous communication
Neonatal hypoxic and ischemic brain injury
Infectious disease of the nervous system
Reversible cerebral vasoconstriction syndrome
Rare neurologic disease with psychiatric involvement
Infant-type hemispheric glioma NTRK-altered
Infant-type hemispheric glioma ALK-altered
Infant-type hemispheric glioma ROS1-altered
Infant-type hemispheric glioma MET-altered
High-grade astrocytoma with piloid features
Diffuse pediatric-type high-grade glioma-H3-wildtype-IDH-wildtype
Diffuse hemispheric glioma-H3 G34-mutant
Pilocytic astrocytoma with histological features of anaplasia
Glial tumor of neuroepithelial tissue with unknown origin
Embryonal tumor of neuroepithelial tissue
Medulloblastoma with extensive nodularity
Embryonal tumor with multilayered rosettes
Pineal parenchymal tumor of intermediate differentiation
Desmoplastic infantile astrocytoma/ganglioglioma
Primary germ cell tumor of central nervous system
Embryonal carcinoma of the central nervous system
Yolk sac tumor of central nervous system
Choriocarcinoma of the central nervous system
Mixed germ cell tumor of central nervous system
Primary melanocytic tumor of central nervous system
Primary melanoma of the central nervous system
Malignant peripheral nerve sheath tumor with perineurial differentiation
Painful orbital and systemic neurofibromas-marfanoid habitus syndrome
Infectious disease with peripheral neuropathy
Acute and subacute inflammatory demyelinating polyneuropathy
Subacute inflammatory demyelinating polyneuropathy
Chronic acquired demyelinating polyneuropathy
Non-paraneoplastic sensory ganglionopathy
Systemic inflammatory disease associated with an acquired peripheral neuropathy
Peripheral neuropathy associated with monoclonal gammopathy
Polyneuropathy associated with IgM monoclonal gammopathy
Hematological disease associated with an acquired peripheral neuropathy
Malignant lymphoma with peripheral neuropathy
Solid tumor associated with an acquired peripheral neuropathy
Combined hyperactive dysfunction syndrome of the cranial nerves
Non-recovering obstetric brachial plexus lesion
Anterior cutaneous nerve entrapment syndrome
Rare disease with malignant hyperthermia
Post 5-alpha-reductase inhibitors treatment syndrome
Post-selective serotonin reuptake inhibitor sexual dysfunction
Well-differentiated papillary mesothelial tumour of the peritoneum
Non-malignant and non-cirrhotic portal vein thrombosis
Nodular regenerative hyperplasia of the liver
Fibrohistiocytic inflammatory pseudotumor of the liver
Lymphoplasmacytic inflammatory pseudotumor of the liver
Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
Parenteral nutrition-associated cholestasis
Biliary atresia and associated disorders
Rare tumor of gallbladder and extrahepatic biliary tract
Carcinoma of gallbladder and extrahepatic biliary tract
Adenocarcinoma of the gallbladder and extrahepatic biliary tract
Squamous cell carcinoma of gallbladder and extrahepatic biliary tract
Combined hepatocellular carcinoma and cholangiocarcinoma
Rare tumor of liver and intrahepatic biliary tract
Undifferentiated embryonal sarcoma of the liver
Rare malignant epithelial tumor of liver and intrahepatic biliary tract
Primary hepatic neuroendocrine carcinoma
Carcinoma of liver and intrahepatic biliary tract
Adenocarcinoma of the liver and intrahepatic biliary tract
Undifferentiated carcinoma of liver and intrahepatic biliary tract
Squamous cell carcinoma of liver and intrahepatic biliary tract
Recurrent hepatitis C virus induced liver disease in liver transplant recipients
Hepatitis B reinfection following liver transplantation
Chronic thromboembolic pulmonary hypertension
Drug- or toxin-induced pulmonary arterial hypertension
Pulmonary arterial hypertension associated with another disease
Pulmonary arterial hypertension associated with connective tissue disease
Pulmonary arterial hypertension associated with congenital heart disease
Pulmonary arterial hypertension associated with HIV infection
Pulmonary arterial hypertension associated with portal hypertension
Pulmonary arterial hypertension associated with schistosomiasis
Pulmonary arterial hypertension associated with chronic hemolytic anemia
Pulmonary hypertension owing to lung disease and/or hypoxia
Pulmonary hypertension with unclear multifactorial mechanism
Syndrome with pulmonary hypertension as a major feature
Congenitally short costocoracoid ligament
Rare bronchopulmonary and pleural cavity tumors
Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia
Well-differentiated fetal adenocarcinoma of the lung
Well-differentiated papillary mesothelial tumour of the pleura
Multisystem Langerhans cell histiocytosis
Single-system multifocal Langerhans cell histiocytosis
Transplant-related bronchiolitis obliterans
Non-transplant-related bronchiolitis obliterans
Tracheobronchopathia osteochondroplastica
Interstitial lung disease specific to childhood
Primary interstitial lung disease specific to childhood
Primary interstitial lung disease specific to childhood due to alveolar structure disorder
Primary interstitial lung disease specific to childhood due to alveolar vascular disorder
Interstitial lung disease specific to infancy
Neuroendocrine cell hyperplasia of infancy
Secondary interstitial lung disease specific to childhood associated with a systemic disease
Secondary interstitial lung disease specific to childhood associated with a connective tissue disease
Oligoarticular juvenile idiopathic arthritis
Systemic-onset juvenile idiopathic arthritis
Psoriasis-related juvenile idiopathic arthritis
Enthesitis-related juvenile idiopathic arthritis
Unspecified juvenile idiopathic arthritis
Polyarticular juvenile idiopathic arthritis
Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis
Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis
Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis
Secondary interstitial lung disease specific to childhood associated with a granulomatous disease
Secondary interstitial lung disease specific to childhood associated with a metabolic disease
Interstitial lung disease specific to adulthood
Primary interstitial lung disease specific to adulthood
Autoimmune pulmonary alveolar proteinosis
Adult acute respiratory distress syndrome
Respiratory bronchiolitis-interstitial lung disease syndrome
Combined pulmonary fibrosis-emphysema syndrome
Idiopathic pleuroparenchymal fibroelastosis
Secondary interstitial lung disease specific to adulthood associated with a systemic disease
Interstitial lung disease in childhood and adulthood
Primary interstitial lung disease in childhood and adulthood
Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder
Idiopathic chronic eosinophilic pneumonia
Secondary interstitial lung disease in childhood and adulthood
Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
Anti-glomerular basement membrane disease
Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease
Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
Anti-neutrophil cytoplasmic antibody-associated vasculitis
Exposure-related interstitial lung disease
Non-fibrotic hypersensitivity pneumonitis
Drug or radiation exposure-related interstitial lung disease
Secondary pulmonary alveolar proteinosis
Pulmonary non-tuberculous mycobacterial infection
Pneumonia caused by Pseudomonas aeruginosa infection
Ventilator-induced diaphragmatic dysfunction
Pulmonary fungal infections in patients deemed at risk
Pediatric acute respiratory distress syndrome
Fowler urethral sphincter dysfunction syndrome
Pure squamous carcinoma of the urothelial tract
Non-seminomatous germ cell tumor of testis
Non-syndromic diaphragmatic or thoracic malformation
Syndromic diaphragmatic or thoracic malformation
Circumscribed palmoplantar hypokeratosis
Congenital erosive and vesicular dermatosis
Zinc-responsive necrolytic acral erythema
Graham Little-Piccardi-Lassueur syndrome
Acquired dermis elastic tissue disorder with decreased elastic tissue
Pseudoxanthoma elasticum-like papillary dermal elastolysis
Acquired dermis elastic tissue disorder with increased elastic tissue
Localized lichen myxedematosus with mixed features of different subtypes
Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms
Scleromyxedema without monoclonal gammopathy
Partial deep dermal and full thickness burns
Panniculitis-induced localized lipodystrophy
Pruritic urticarial papules and plaques of pregnancy
Indolent primary cutaneous T-cell lymphoma
Primary cutaneous CD30+ T-cell lymphoproliferative disease
Primary cutaneous anaplastic large cell lymphoma
Subcutaneous panniculitis-like T-cell lymphoma
Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma
Aggressive primary cutaneous T-cell lymphoma
Primary cutaneous peripheral T-cell lymphoma not otherwise specified
Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma
Primary cutaneous gamma/delta-positive T-cell lymphoma
Aggressive primary cutaneous B-cell lymphoma
Primary cutaneous diffuse large B-cell lymphoma, leg type
Indolent primary cutaneous B-cell lymphoma
Primary cutaneous marginal zone B-cell lymphoma
Primary cutaneous follicle center lymphoma
Inflammatory linear verrucous epidermal nevus
Other metabolic disease with skin involvement
Erosive pustular dermatosis of the scalp
Jessner lymphocytic infiltration of the skin
Interstitial granulomatous dermatitis with arthritis
Virus-associated trichodysplasia spinulosa
Infective dermatitis associated with HTLV-1
Classic eosinophilic pustular folliculitis
Pseudoxanthomatous diffuse cutaneous mastocytosis
Telangiectasia macularis eruptiva perstans
Hereditary progressive mucinous histiocytosis
Autoinflammatory syndrome with skin involvement
Autoinflammatory syndrome with acne and/or hidradenitis suppurativa
Infantile onset panniculitis with uveitis and systemic granulomatosis
Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum
Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome
Drug reaction with eosinophilia and systemic symptoms
Acute generalized exanthematous pustulosis
Autoimmune disease with skin involvement
Hypertrophic or verrucous lupus erythematosus
Idiopathic non-lupus full-house nephropathy
Systemic disease with glomerulopathy as a major feature
Non-genetic systemic disease with glomerulopathy as a major feature
Systemic vasculitis associated with glomerulopathy
Pauci-immune glomerulonephritis with ANCA
Pauci-immune glomerulonephritis without ANCA
Non-amyloid monoclonal immunoglobulin deposition disease
Light and heavy chain deposition disease
Nephrotic syndrome without extrarenal manifestations
Idiopathic steroid-resistant nephrotic syndrome
Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy
Idiopathic multidrug-resistant nephrotic syndrome
Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance
Idiopathic steroid-sensitive nephrotic syndrome
Immunotactoid or fibrillary glomerulopathy
Immune-mediated thrombotic thrombocytopenic purpura
Infection-related hemolytic uremic syndrome
Shiga toxin-associated hemolytic uremic syndrome
Streptococcus pneumoniae-associated hemolytic uremic syndrome
De novo thrombotic microangiopathy after kidney transplantation
Acquired monoclonal Ig light chain-associated Fanconi syndrome
Tubulointerstitial nephritis and uveitis syndrome
Multilocular cystic renal neoplasm of low malignant potential
Clear cell papillary renal cell carcinoma
MiT family translocation renal cell carcinoma
Mucinous tubular and spindle cell renal carcinoma
Acquired cystic disease-associated renal cell carcinoma
Rare benign neoplastic choroidal disorder
Rare malignant neoplastic choroidal disorder
Bilateral diffuse uveal melanocytic proliferation disease
Combined hamartoma of the retina and retinal pigment epithelium
Rare ophthalmic disorder with cranial nerve involvement
Autoimmune/inflammatory optic neuropathy
Diffuse unilateral subacute neuroretinitis
Rare neuromuscular disorder with ocular motility/alignment anomaly
Rare ophthalmic disorder with cortical involvement
Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature
Systemic diseases with posterior uveitis
Rare disorder of the posterior segment of the eye
Acute posterior multifocal placoid pigment epitheliopathy
Rare predominantly chorioretinal disorder
Rare non-progressive predominantly chorioretinal disorder
Rare isolated non-progressive predominantly chorioretinal disorder
Melanocytoma of the optic disc and optic nerve
Rare progressive predominantly chorioretinal disorder
Rare isolated progressive predominantly chorioretinal disorder
Rare progressive generalized retinal disorder
Rare isolated progressive generalized retinal disorder
Primary vitreoretinal large B-cell lymphoma
Rare non-progressive retinal vasculopathy
Perifoveal exudative vascular anomalous complex
Rare isolated progressive retinal vasculopathy
Rare disorder with progressive retinal vasculopathy as a major feature
Rare non-progressive predominantly macular disorder
Rare isolated non-progressive predominantly macular disorder
Rare progressive predominantly macular disorder
Rare isolated progressive predominantly macular disorder
Toxic maculopathy due to antimalarial drugs
Acute exudative polymorphous vitelliform maculopathy
Idiopathic Acute exudative polymorphous vitelliform maculopathy
Paraneoplastic acute exudative polymorphous vitelliform maculopathy
Stellate non-hereditary idiopathic foveomacular retinoschisis
Rare disorder involving multiple structures of the eye
Scarring in glaucoma filtration surgical procedures
Inflammatory/autoimmune disorder involving the lacrimal system
IgG4-related dacryoadenitis and sialadenitis
Rare disorder of the anterior segment of the eye
Rare disorder with conjunctival involvement as a major feature
Rare disorder with corneal involvement as a major feature
Rare inflammatory/autoimmune corneal disorder
Idiopathic linear interstitial keratitis
Gastroenteropancreatic neuroendocrine neoplasm
Neuroendocrine tumor with other location
High-grade neuroendocrine carcinoma of the corpus uteri
High-grade neuroendocrine carcinoma of the cervix uteri
Well-differentiated thymic neuroendocrine carcinoma
Moderately-differentiated thymic neuroendocrine carcinoma
Poorly differentiated thymic neuroendocrine carcinoma
Rare parathyroid disease and phosphocalcic metabolism anomaly
Secondary hypoparathyroidism due to impaired parathormon secretion
Transient congenital hypothyroidism due to maternal factor
Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies
Congenital hypothyroidism due to maternal intake of antithyroid drugs
Transient congenital hypothyroidism due to neonatal factor
Primary central precocious puberty in male
Non-genetic central precocious puberty in male
Secondary central precocious puberty in male
Rare central precocious puberty in female
Secondary central precocious puberty in female
Rare non-acquired premature ovarian failure
Rare disease with adrenal Cushing syndrome as a major feature
Rare adrenocortical nodular disease with Cushing syndrome as a major feature
Isolated primary pigmented nodular adrenocortical disease
Isolated micronodular adrenocortical disease
Cushing syndrome due to cortisol-producing adrenocortical adenoma
Sporadic pheochromocytoma/secreting paraganglioma
Acquired chronic primary adrenal insufficiency
Rare surgically correctable form of primary aldosteronism
Adrenocortical carcinoma with pure aldosterone hypersecretion
Rare non surgically correctable form of primary aldosteronism
Congenital thyroid malformation without hypothyroidism
Pituitary hormone deficiency of tumoral origin
Pituitary deficiency due to Rathke cleft cysts
Pituitary hormone deficiency of meningeal origin
Pituitary deficiency due to empty sella turcica syndrome
Pituitary hormone deficiency of vascular origin
Pituitary hormone deficiency secondary to a granulomatous disease
Pituitary hormone deficiency secondary to storage disease
Acquired arginine vasopressin deficiency
Tumor of hematopoietic and lymphoid tissues
Systemic mastocytosis with associated hematologic neoplasm
Acute myeloid leukaemia with myelodysplasia-related features
Therapy related acute myeloid leukemia and myelodysplastic syndrome
Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent
Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor
Acute myeloid leukemia and myelodysplastic syndromes related to radiation
Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
Mixed phenotype acute leukemia with t(v;11q23.3)
Acute myeloid leukemia with recurrent genetic anomaly
Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)
Acute myeloid leukemia with 11q23 abnormalities
Acute myeloid leukemia with t(8;21)(q22;q22) translocation
Acute myeloid leukemia with t(8;16)(p11;p13) translocation
Acute myeloid leukemia with t(6;9)(p23;q34)
Acute myeloid leukemia with t(9;11)(p22;q23)
Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
Acute myeloid leukemia with NPM1 somatic mutations
Acute myeloid leukemia with t(9;22)(q34.1;q11.2)
Acute megakaryoblastic leukemia in children with Down syndrome
Acute megakaryoblastic leukemia in children without Down syndrome
Acute megakaryoblastic leukemia in adult
Acute myeloid leukemia with minimal differentiation
Acute myeloblastic leukemia without maturation
Acute myeloblastic leukemia with maturation
Acquired idiopathic sideroblastic anemia
Refractory cytopenia with multilineage dysplasia
Myelodysplastic neoplasm with low blasts
Myelodysplastic neoplasm with increased blasts
Myelodysplastic neoplasm with increased blasts type 1
Myelodysplastic neoplasm with increased blasts type 2
Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality
Refractory anemia with excess blasts in transformation
Chronic myeloproliferative disease, unclassifiable
Myelodysplastic/myeloproliferative disease
Unclassified myelodysplastic/myeloproliferative disease
Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2
Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement
Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement
Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement
Myeloid/lymphoid neoplasm associated with JAK2 rearrangement
Dendritic cell sarcoma not otherwise specified
Immunodeficiency-associated lymphoproliferative disease
Post-transplant lymphoproliferative disease
Methotrexate-associated lymphoproliferative disorders
Lymphoproliferative disease associated with primary immune disease
Precursor B-cell acute lymphoblastic leukemia
Precursor T-cell acute lymphoblastic leukemia
Splenic diffuse red pulp small B-cell lymphoma
Lymphoplasmacytic lymphoma without IgM production
Primary mediastinal large B-cell lymphoma
Epstein-Barr virus-positive diffuse large B-cell lymphoma
Diffuse large B-cell lymphoma of the central nervous system
T-cell/histiocyte rich large B cell lymphoma
Diffuse large B-cell lymphoma with chronic inflammation
High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement
Blastic plasmacytoid dendritic cell neoplasm
ALK-positive anaplastic large cell lymphoma
ALK-negative anaplastic large cell lymphoma
Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood
Breast implant-associated anaplastic large cell lymphoma
T-cell large granular lymphocyte leukemia
Chronic lymphoproliferative disorder of natural killer cells
Nodal T-follicular helper cell lymphoma, follicular type
Classic Hodgkin lymphoma, nodular sclerosis type
Classic Hodgkin lymphoma, mixed cellularity type
Classic Hodgkin lymphoma, lymphocyte-rich type
Classic Hodgkin lymphoma, lymphocyte-depleted type
Nodular lymphocyte predominant Hodgkin lymphoma
Persistent polyclonal B-cell lymphocytosis
HHV-8-associated multicentric Castleman disease
Idiopathic multicentric Castleman disease
Monoclonal mast cell activation syndrome
Rare thrombotic disease of hematologic origin
Rare thrombotic disorder due to a coagulation factors defect
Rare thrombotic disorder due to an acquired coagulation factors defect
Platelet-activating anti-platelet factor 4 disorder
Classic heparin-induced thrombocytopenia
Autoimmune heparin-induced thrombocytopenia
Spontaneous heparin-induced thrombocytopenia
Vaccine-induced immune thrombotic thrombocytopenia
Rare thrombotic disorder due to a platelet anomaly
Rare thrombotic disorder due to an acquired platelet anomaly
Rare hemorrhagic disorder due to a coagulation factors defect
Rare hemorrhagic disorder due to an acquired coagulation factor defect
Rare hemorrhagic disorder due to a platelet anomaly
Rare hemorrhagic disorder due to an acquired platelet anomaly
Fetal and neonatal alloimmune thrombocytopenia
Drug-induced autoimmune hemolytic anemia
Hemolytic disease due to fetomaternal alloimmunization
Hemolytic disease of the newborn with Kell alloimmunization
Transient erythroblastopenia of childhood
Common variable immunodeficiency without known genetic defect
Secondary hemophagocytic lymphohistiocytosis
Hemophagocytic syndrome associated with an infection
Acquired hemophagocytic lymphohistiocytosis associated with malignant disease
Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies
Acquired angioedema with C1Inh deficiency
Renin-angiotensin-aldosterone system-blocker-induced angioedema
Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome
Myalgia-eosinophilia syndrome associated with tryptophan
Undifferentiated connective tissue syndrome
IgG4-related submandibular gland disease
Unexplained long-lasting fever/inflammatory syndrome
CAR T cell therapy-associated cytokine release syndrome
Multisystem inflammatory syndrome in children and adults
Secondary non-traumatic avascular necrosis
Medial condensing osteitis of the clavicle
Isolated sternocostoclavicular hyperostosis
Rare disease with odontological manifestation
Fibromuscular dysplasia of the cervical and intracranial arteries
Fibromuscular dysplasia of the renal arteries
Fibromuscular dysplasia of the coronary arteries
Fibromuscular dysplasia of the visceral arteries
Fibromuscular dysplasia of the arteries of the extremities
Arterial dissection-lentiginosis syndrome
Peripheral primitive neuroectodermal tumor
Idiopathic pregnancy-associated osteoporosis
Squamous cell carcinoma of head and neck
Squamous cell carcinoma of the hypopharynx
Squamous cell carcinoma of the nasal cavity and paranasal sinuses
Squamous cell carcinoma of the oropharynx
Squamous cell carcinoma of oral cavity and lip
Squamous cell carcinoma of the oral cavity
Male infertility due to obstructive azoospermia
Rare disorder with obstructive azoospermia
Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder
Rare male infertility due to adrenal disorder
Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder
Rare female infertility due to an adrenal disorder
Rare female infertility due to an anomaly of ovarian function
Rare female infertility due to an implantation defect
Extragonadal non-dysgerminomatous germ cell tumor
Non-central nervous system-localized embryonal carcinoma
Malignant non-dysgerminomatous germ cell tumor of ovary
Primary non-gestational choriocarcinoma of ovary
Malignant mixed epithelial and mesenchymal tumor of corpus uteri
Primitive neuroectodermal tumor of the corpus uteri
Squamous cell carcinoma of the corpus uteri
Undifferentiated carcinoma of the corpus uteri
Low-grade neuroendocrine tumor of the corpus uteri
Transitional cell carcinoma of the corpus uteri
Malignant germ cell tumor of the corpus uteri
Squamous cell carcinoma of the cervix uteri
Malignant mixed epithelial and mesenchymal tumor of cervix uteri
Primitive neuroectodermal tumor of the cervix uteri
Adenoid cystic carcinoma of the cervix uteri
Adenoid basal carcinoma of the cervix uteri
Glassy cell carcinoma of the cervix uteri
Malignant germ cell tumor of the cervix uteri
Malignant mixed Müllerian tumor of the ovary
Malignant sex cord stromal tumor of ovary
Malignant granulosa cell tumor of the ovary
Malignant Sertoli-Leydig cell tumor of the ovary
Theca steroid-producing cell malignant tumor of ovary, not further specified
Female adnexal tumor of probable Wolffian origin
Salivary gland type cancer of the breast
Epstein-Barr virus-associated malignant lymphoproliferative disorder
Epstein-Barr Virus-associated mesenchymal tumor
Invasive infections due to vancomycin-resistant enterococci
Chronic Epstein-Barr virus infection syndrome
Severe disseminated cytomegalovirus infection in immunocompetent patients
Adenovirus infection in immunocompromised patients
Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk
Furuncular myiasis due to Cordylobia rodhaini
Furuncular myiasis due to Cordylobia anthropophaga
Furuncular myiasis due to Dermatobia hominis
Rare intoxication due to medical products
Acute tricyclic antidepressant poisoning
Acute poisoning by drugs with membrane-stabilizing effect
Rare disorder related with pregnancy, childbirth and puerperium
Rare disorder related to monochorionic twin pregnancy
Rare disorder due to unbalanced inter-twin blood transfusion
Twin-reversed arterial perfusion sequence
Rare disorder due to inadequate sharing of the placenta
Selective intrauterine growth restriction
Chronic intervillositis of unknown etiology
Familial juvenile hypertrophy of the breast
Rare non-malformative gynecologic or obstetric disease
Rare non-malformative uterovaginal or vulvovaginal disease
Rare non-malformative uterine adnexal disease
Anomaly of puberty or/and menstrual cycle
Rare peripheral precocious puberty in female
Menstrual cycle-dependent periodic fever
Difference of sex development of gynecological interest
Congenital temporomandibular joint ankylosis
Rare systemic or rheumatological disease of childhood
Unexplained periodic fever syndrome of childhood
Pyogenic autoinflammatory syndrome of childhood
Granulomatous autoinflammatory syndrome of childhood
Unclassified autoinflammatory syndrome of childhood
Rare disorder potentially indicated for transplant or complication after transplantation
Complications after hematopoietic stem cell transplantation
Complication after organ transplantation
Rare disorder potentially indicated for transplant
Rare disorder potentially indicated for heart transplant
Rare disorder potentially indicated for liver transplant
Rare disorder potentially indicated for kidney transplant
Rare disorder potentially indicated for bowel transplant
Rare disorder potentially indicated for hematopoietic stem cell transplant
Rare disorder potentially indicated for lung transplant
Functional head of classification for rare disorder without a determined diagnosis after full investigation
Rare disorder without a determined diagnosis after full investigation