HL7 PT FHIR Implementation Guide: Terminologias
1.0.0 - STU1 Portugal flag

HL7 PT FHIR Implementation Guide: Terminologias, publicado por HL7 Portugal. Este guia não é uma publicação autorizada; é a compilação contínua para a versão 1.0.0 construída pela FHIR (HL7® FHIR® Standard) CI Build. Esta versão é baseada no conteúdo atual de https://github.com/hl7-pt/terminologias/tree/master e muda regularmente. Veja o Diretório de versões publicadas
Built from commit 987016b6.

CodeSystem: Orphanet Rare Disease Classification

Official URL: https://www.orpha.net/ORDO/Orphanet_ Version: 1.0.0
Active as of 2025-12-09 Computable Name: OrphanetRareDiseaseClassification

Copyright/Legal: © Orphanet 2025. CC BY 4.0.

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).

This Code system is referenced in the content logical definition of the following value sets:

  • Este CodeSystem não é utilizado aqui; pode ser utilizado noutro local (por exemplo, em especificações e/ou implementações que utilizem este conteúdo)

Propriedades

Este sistema de códigos define as seguintes propriedades para os seus conceitos

NomeCódigoURITipoDescrição
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:

CódigoEcrãParentdisorderType
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