{ "resourceType" : "CodeSystem", "id" : "orphanet-rare-disease-classification", "text" : { "status" : "generated", "div" : "

Narrativa gerada: CodeSystem orphanet-rare-disease-classification

Propriedades

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

NomeCódigoURITipoDescrição
Parentparenthttp://hl7.org/fhir/concept-properties#parentcodeParent concept in the classification hierarchy
disorderTypedisorderTypehttps://www.orpha.net/ORDO/Orphanet_C019stringType 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 diseaseCategory
167848 Rare cardiomyopathy97929Category
247 Inherited arrhythmogenic cardiomyopathy167848, 506225, 98054Clinical group
34217 Naxos disease247, 307804, 434809Disease
217656 Inherited isolated arrhythmogenic cardiomyopathy247, 300755Disease
293888 Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant217656Clinical subtype
293899 Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant217656Clinical subtype
293910 Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant217656Clinical subtype
217569 Rare hypertrophic cardiomyopathy167848, 506225Category
99739 Rare familial disorder with hypertrophic cardiomyopathy217569, 98054Category
217572 Glycogen storage disease with hypertrophic cardiomyopathy99739Category
439854 Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease217572, 79201Disease
365 Glycogen storage disease due to acid maltase deficiency206959, 217572, 217581, 217638, 309337, 79201Disease
308552 Glycogen storage disease due to acid maltase deficiency, infantile onset365Clinical subtype
420429 Glycogen storage disease due to acid maltase deficiency, late-onset365Clinical subtype
366 Glycogen storage disease due to glycogen debranching enzyme deficiency101940, 206959, 217572, 79201Disease
34587 Danon disease206959, 217572, 217607, 309337, 611314, 79201Disease
137625 Glycogen storage disease due to muscle and heart glycogen synthase deficiency217572, 308520Disease
217581 Lysosomal disease with hypertrophic cardiomyopathy99739Category
118 Beta-mannosidosis207018, 217581, 611314, 79215, 93448Disease
349 Fucosidosis217581, 611314, 79215, 93448Disease
324 Fabry disease139009, 183478, 207018, 217581, 217638, 371442, 506213, 568047, 79225, 79379, 93593, 98644Disease
580 Mucopolysaccharidosis type 2217581, 611314, 68385, 79213, 79388, 93448, 98578Disease
217085 Mucopolysaccharidosis type 2, severe form580Clinical subtype
217093 Mucopolysaccharidosis type 2, attenuated form580Clinical subtype
93473 Hurler syndrome102283, 217581, 217638, 579, 611327Clinical subtype
93476 Hurler-Scheie syndrome217581, 579Clinical subtype
217587 Mitochondrial disease with hypertrophic cardiomyopathy99739Category
550 MELAS206966, 217587, 217613, 225700, 225703, 254776, 519343, 522508, 611314, 68385, 90642Disease
551 MERRF206966, 217587, 217613, 225700, 225703, 254776, 441434, 68385, 98261Disease
1349 Mitochondrial DNA-related cardiomyopathy and hearing loss217587, 254776Malformation syndrome
1369 Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome217587, 254830, 352312, 522520, 522548, 98641, 98683Disease
99718 Leber plus disease217587, 217613, 254776, 98671Disease
314637 Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency217587, 35696Disease
319678 Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome217587, 35656Disease
324525 Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation183592, 217587, 254776, 93593, 93603Disease
352563 Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency217587, 35696Disease
369913 Combined oxidative phosphorylation defect type 17217587, 35696Disease
444013 Combined oxidative phosphorylation defect type 23217587, 35696, 611314, 68385Disease
496790 Ocular anomalies-axonal neuropathy-developmental delay syndrome207018, 217587, 254837, 441434, 611314Disease
457185 Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome217587, 35656Disease
570491 QRSL1-related combined oxidative phosphorylation defect217587, 35696Disease
656279 1p36.33 duplication syndrome217587, 254837, 264431, 68385Disease
217591 Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy99739Category
746 Mitochondrial trifunctional protein deficiency206966, 207018, 217591, 309115Disease
159 Carnitine-acylcarnitine translocase deficiency217591, 309130, 611314Disease
5 Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency181402, 207018, 217591, 309127, 716405Disease
26791 Multiple acyl-CoA dehydrogenase deficiency206953, 217591, 309120Disease
394529 Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type26791Clinical subtype
394532 Multiple acyl-CoA dehydrogenase deficiency, mild type26791Clinical subtype
26793 Very long chain acyl-CoA dehydrogenase deficiency206953, 217591, 309120Disease
99901 Acyl-CoA dehydrogenase 9 deficiency217591, 217616, 254843Disease
217595 Syndrome associated with hypertrophic cardiomyopathy99739Category
95 Friedreich ataxia207028, 217595, 519341, 522506, 68385, 98098Disease
273 Steinert myotonic dystrophy206647, 217595, 519347, 522522, 98033, 98578, 98648Disease
589824 Childhood-onset Steinert myotonic dystrophy273, 611314Clinical subtype
589827 Juvenile-onset Steinert myotonic dystrophy273, 611314Clinical subtype
589830 Adult-onset Steinert myotonic dystrophy273, 611314Clinical subtype
589833 Late-onset Steinert myotonic dystrophy273Clinical subtype
589821 Congenital-onset Steinert myotonic dystrophy273, 611314Clinical subtype
116 Beckwith-Wiedemann syndrome156207, 156237, 183422, 217595, 319328, 641343, 93460, 93547Malformation syndrome
96076 Beckwith-Wiedemann syndrome due to 11p15 microduplication116, 262785Etiological subtype
96193 Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11116, 98154Etiological subtype
231117 Beckwith-Wiedemann syndrome due to imprinting defect of 11p15116Etiological subtype
231120 Beckwith-Wiedemann syndrome due to CDKN1C mutation116Etiological subtype
231127 Beckwith-Wiedemann syndrome due to 11p15 microdeletion116, 261947Etiological subtype
231130 Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion116, 263708Etiological subtype
91130 Cardiomyopathy-hypotonia-lactic acidosis syndrome217595, 254830Disease
228012 Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome101934, 217595, 90642Disease
399058 Alpha-B crystallin-related late-onset myopathy206650, 217595, 98910Disease
98909 Desminopathy206650, 206662, 209041, 217595, 217610, 217635, 593Disease
3071 Costello syndrome102283, 139027, 183422, 217595, 228215, 477771, 611327, 98733Malformation syndrome
2701 Noonan syndrome-like disorder with loose anagen hair102283, 217595, 481771, 611327, 79364, 98576, 98733Malformation syndrome
648 Noonan syndrome102283, 139393, 181441, 183422, 217595, 477771, 568047, 611327, 619340, 93547, 98576, 98578, 98733Malformation syndrome
500 Noonan syndrome with multiple lentigines102285, 139027, 183422, 183466, 217595, 330206, 619340, 79375, 90642, 98196, 98733Malformation syndrome
363972 Noonan syndrome-like disorder with juvenile myelomonocytic leukemia183422, 217595, 477771, 98733Malformation syndrome
1340 Cardiofaciocutaneous syndrome102283, 217595, 568047, 611327, 79373, 98733Malformation syndrome
693647 Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome217595, 229720, 331184Disease
217598 Non-familial hypertrophic cardiomyopathy217569Category
1926 Diabetic embryopathy138059, 217598, 251535, 93460Malformation syndrome
85443 AL amyloidosis209013, 217598, 217720, 506210, 567558, 69, 98282Disease
314701 Primary systemic amyloidosis85443Clinical subtype
314709 Primary localized amyloidosis85443Clinical subtype
217604 Dilated cardiomyopathy167848Category
217607 Familial dilated cardiomyopathy217604, 98054Category
2119 HEC syndrome217607, 217635, 217720, 324767Malformation syndrome
367 Glycogen storage disease due to glycogen branching enzyme deficiency101940, 206959, 217607, 506210, 506225, 79201Disease
206583 Adult polyglucosan body disease207018, 367Clinical subtype
308621 Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form367Clinical subtype
308638 Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form367Clinical subtype
308655 Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form367Clinical subtype
308670 Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form367Clinical subtype
308684 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form367Clinical subtype
308698 Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form367Clinical subtype
308712 Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form367Clinical subtype
154 Familial isolated dilated cardiomyopathy207085, 217607, 506225Disease
217610 Neuromuscular disease with dilated cardiomyopathy217607, 506225Category
262 Duchenne and Becker muscular dystrophy206644, 217610Clinical group
98895 Becker muscular dystrophy207085, 262Disease
98896 Duchenne muscular dystrophy207085, 262, 519347, 522522, 611314Disease
206546 Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers207085, 262Disease
261 Emery-Dreifuss muscular dystrophy206644, 217610, 611314Disease
98853 Autosomal dominant Emery-Dreifuss muscular dystrophy261, 300755Etiological subtype
98855 Autosomal recessive Emery-Dreifuss muscular dystrophy261, 300755Etiological subtype
98863 X-linked Emery-Dreifuss muscular dystrophy209188, 261Etiological subtype
62 Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3102015, 207060, 217610Disease
119 Beta-sarcoglycan-related limb-girdle muscular dystrophy R4102015, 207063, 217610Disease
353 Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5102015, 207067, 217610Disease
219 Delta-sarcoglycan-related limb-girdle muscular dystrophy R6102015, 207070, 217610Disease
206554 Fukutin-related limb-girdle muscular dystrophy R13102015, 207122, 217610, 309469, 371047, 371176Disease
289377 Early-onset myopathy with fatal cardiomyopathy206656, 209053, 217610Disease
397937 Polyglucosan body myopathy type 1206959, 217610, 68385, 79201Disease
217613 Mitochondrial disease with dilated cardiomyopathy217607, 506225Category
480 Kearns-Sayre syndrome181402, 206966, 217613, 225700, 225703, 254767, 519347, 522522, 68385, 716405, 90642Disease
111 Barth syndrome206966, 217613, 289902, 331184, 352312Disease
137675 Histiocytoid cardiomyopathy101934, 217613, 254837Disease
217616 Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy217607, 506225Category
158 Systemic primary carnitine deficiency206953, 217616, 309130Disease
217619 Syndrome associated with dilated cardiomyopathy217607, 506225Category
64 Alström syndrome156162, 156165, 181376, 183592, 183625, 217619, 240371, 506213, 522548, 611314, 716405, 90642, 93603, 98641Disease
1345 Cardiomyopathy-cataract-hip spine disease syndrome217619, 522548, 98641Disease
1493 Vici syndrome102283, 102285, 183469, 199639, 217619, 269523, 269567, 269573, 330206, 331217, 522548, 611327, 79376, 98641Malformation syndrome
1606 1p36 deletion syndrome166469, 217619, 261857Malformation syndrome
2229 Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome181441, 217619, 300755Malformation syndrome
2515 Microcephaly-cardiomyopathy syndrome102283, 217619, 269528, 611327Malformation syndrome
59306 McLeod neuroacanthocytosis syndrome217619, 225713, 263440, 68385, 98366Disease
65282 Carvajal syndrome217619, 434809, 79373, 98027, 98357Disease
66634 Dilated cardiomyopathy with ataxia217619, 289902, 611314Disease
73224 Kidney tubulopathy-dilated cardiomyopathy syndrome183592, 217619, 93603Disease
79159 Isobutyryl-CoA dehydrogenase deficiency217619, 79163Disease
168796 Heart-hand syndrome, Slovenian type101934, 217619, 228184, 300755Malformation syndrome
217622 Sensorineural deafness with dilated cardiomyopathy217619Disease
476096 Erythrokeratodermia-cardiomyopathy syndrome183438, 217619, 77830, 79355, 98027Disease
2663 Nathalie syndrome217619, 522548, 90642, 98641Malformation syndrome
300751 Familial dilated cardiomyopathy with conduction defect due to LMNA mutation217607, 300755, 506225Disease
371176 Congenital disorder of glycosylation with dilated cardiomyopathy217607, 506225Category
91131 DK1-CDG281244, 309526, 371176, 371200Disease
263494 DPM3-CDG309526, 370953, 371047, 371176, 611314Disease
319646 PGM1-CDG309347, 371157, 371176, 79201Disease
217629 Non-familial dilated cardiomyopathy217604Category
2022 Endocardial fibroelastosis217629, 217720, 506225Disease
563 Peripartum cardiomyopathy163637, 217629, 506225Disease
324767 Non-familial rare disease with dilated cardiomyopathy217629, 506225Category
183 Eosinophilic granulomatosis with polyangiitis156152, 209007, 324767, 567560Disease
217632 Restrictive cardiomyopathy167848Category
217635 Familial restrictive cardiomyopathy217632, 98054Category
1344 Isolated atrial standstill101934, 217635Disease
758 Pseudoxanthoma elasticum139027, 139030, 156629, 183503, 217635, 228215, 506213, 71281, 716427Disease
75249 Familial isolated restrictive cardiomyopathy217635, 506225Disease
271861 Hereditary ATTR amyloidosis217635, 444116, 506210, 69, 716446Disease
85451 ATTRV122I amyloidosis271861, 506225Clinical subtype
85447 ATTRV30M amyloidosis207021, 271861Clinical subtype
217638 Lysosomal disease with restrictive cardiomyopathy217635, 506225Category
77259 Gaucher disease type 1217638, 264968, 355, 399185, 716405, 98544Clinical subtype
217720 Non-familial restrictive cardiomyopathy217632Category
797 Sarcoidosis166484, 182222, 209007, 217720, 264745, 280373, 280926, 280930, 280933, 324930, 567558, 95617Disease
75565 Tropical endomyocardial fibrosis217720Disease
75566 Loeffler endocarditis217720Disease
85445 AA amyloidosis209013, 217720, 567558, 69Disease
90291 Systemic sclerosis101944, 182228, 217720, 280373, 567558, 801Disease
220393 Diffuse cutaneous systemic sclerosis90291Clinical subtype
220402 Limited cutaneous systemic sclerosis90291Clinical subtype
220407 Limited systemic sclerosis90291Clinical subtype
168956 Hypereosinophilic syndrome217720, 98274Clinical group
314962 Secondary hypereosinophilic syndrome168956Disease
314970 Lymphocytic hypereosinophilic syndrome314962Clinical subtype
3260 Idiopathic hypereosinophilic syndrome168956Disease
314950 Primary hypereosinophilic syndrome168956Disease
570762 Infective endocarditis163582, 163591, 217720Disease
330001 Wild type ATTR amyloidosis217720, 506210, 69Disease
217678 Unclassified cardiomyopathy167848Category
692305 Triglyceride deposit cardiomyovasculopathy165, 217678, 506225Disease
692296 Idiopathic triglyceride deposit cardiomyovasculopathy692305Etiological subtype
565612 Primary triglyceride deposit cardiomyovasculopathy692305Etiological subtype
3403 Uhl anomaly217678Morphological anomaly
54260 Left ventricular noncompaction217678, 300755, 477805Disease
66529 Tako-Tsubo cardiomyopathy217678Disease
478049 Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome217678, 2443, 522548, 68385, 98054, 98641Disease
329874 Idiopathic giant cell myocarditis167848Disease
168194 Rare cardiac tumor97929, 98057Category
1359 Carney complex100091, 100094, 168194, 183466, 271841, 314749, 79375Disease
615 Familial atrial myxoma168194, 271841Disease
874 Primary adult heart tumor168194Disease
875 Primary pediatric heart tumor168194Disease
319340 Carney complex-trismus-pseudocamptodactyly syndrome168194, 183466, 228184, 271841, 79375Disease
685004 Primary pericardial mesothelioma168194Disease
218436 Rare cardiac rhythm disease97929Category
101934 Genetic cardiac rhythm disease218436, 98054Category
768 Congenital long QT syndrome101934Clinical group
65283 Timothy syndrome180772, 611314, 768Malformation syndrome
595098 Timothy syndrome type 165283Clinical subtype
595105 Timothy syndrome type 265283Clinical subtype
595109 Atypical Timothy syndrome65283Clinical subtype
90647 Jervell and Lange-Nielsen syndrome768, 90642Disease
101016 Romano-Ward syndrome768Disease
871 Hereditary progressive cardiac conduction defect101934Disease
392 Holt-Oram syndrome101934, 102285, 156532, 228184, 294955, 330206, 404574Malformation syndrome
1342 Heart-hand syndrome type 3101934, 102285, 228184, 330206Malformation syndrome
1350 Heart-hand syndrome type 2101934, 102285, 228184, 330206Malformation syndrome
2946 Brachydactyly-long thumb syndrome101934, 228184, 498454Malformation syndrome
1479 Atrial septal defect-atrioventricular conduction defects syndrome101934, 156532Malformation syndrome
3283 His bundle tachycardia101934Disease
3286 Catecholaminergic polymorphic ventricular tachycardia101934Disease
130 Brugada syndrome101934Disease
334 Hereditary atrial fibrillation101934Disease
37553 Andersen-Tawil syndrome101934, 206976, 371433, 98741Disease
51083 Congenital short QT syndrome101934Disease
51084 Torsade-de-pointes syndrome with short coupling interval101934Disease
60041 Congenital heart block101934Disease
166282 Hereditary sick sinus syndrome101934Disease
228140 Idiopathic ventricular fibrillation101934Disease
324321 Sinoatrial node dysfunction and deafness101934, 90642Disease
324410 X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome101934, 611314Disease
435988 Chronic atrial and intestinal dysrhythmia syndrome101934, 117569, 165655Disease
436242 Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease101934Disease
480864 Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome101934, 182070, 183500, 225713, 611314Disease
542306 GNB5-related intellectual disability-cardiac arrhythmia syndrome101934, 611314Disease
476084 BVES-related limb-girdle muscular dystrophy101934, 102015Disease
218439 Non-genetic cardiac rhythm disease218436Category
3282 Multifocal atrial tachycardia218439Disease
45452 Idiopathic neonatal atrial flutter218439Disease
45453 Incessant infant ventricular tachycardia218439Disease
363618 LMNA-related cardiocutaneous progeria syndrome300766, 79389, 97929, 98054Disease
97292 Cardiogenic shock97929Particular clinical situation in a disease or syndrome
458718 Idiopathic spontaneous coronary artery dissection97929Disease
263352 Postcardiotomy right ventricular failure97929Particular clinical situation in a disease or syndrome
93890 Rare developmental defect during embryogenesisCategory
1041 Hydrops fetalis93890Malformation syndrome
363999 Non-immune hydrops fetalis1041, 183530Clinical subtype
364013 Immune hydrops fetalis1041Clinical subtype
93545 Renal or urinary tract malformation93626, 93890Category
93546 Non-syndromic renal or urinary tract malformation506213, 93545Category
1851 Multicystic dysplastic kidney357506, 93546Morphological anomaly
97363 Unilateral multicystic dysplastic kidney1851Clinical subtype
97364 Bilateral multicystic dysplastic kidney1851Clinical subtype
322 Exstrophy-epispadias complex108977, 182124, 357506, 93546Malformation syndrome
93928 Isolated epispadias322Clinical subtype
93929 Cloacal exstrophy117573, 322Clinical subtype
93930 Classic bladder exstrophy322Clinical subtype
3033 Renal tubular dysgenesis93546Malformation syndrome
97367 Renal tubular dysgenesis due to twin-twin transfusion3033Etiological subtype
97368 Drug-related renal tubular dysgenesis3033Etiological subtype
97369 Renal tubular dysgenesis of genetic origin3033, 357506Etiological subtype
1309 Medullary sponge kidney357506, 93546Morphological anomaly
2260 Oligomeganephronia93546Morphological anomaly
237 Duplication of urethra182124, 357506, 93546Morphological anomaly
617 Congenital primary megaureter182124, 357506, 93546Morphological anomaly
238642 Primary megaureter, adult-onset form617Clinical subtype
238646 Congenital primary megaureter, obstructed form617Clinical subtype
238650 Congenital primary megaureter, refluxing form617Clinical subtype
238654 Congenital primary megaureter, nonrefluxing and unobstructed form617Clinical subtype
544578 Congenital primary megaureter, refluxing and obstructed form617Clinical subtype
93101 Renal hypoplasia357506, 93546Morphological anomaly
97361 Renal hypoplasia, unilateral93101Clinical subtype
97362 Renal hypoplasia, bilateral93101Clinical subtype
93108 Renal dysplasia357506, 93546Morphological anomaly
93172 Renal dysplasia, unilateral93108Clinical subtype
93173 Renal dysplasia, bilateral93108Clinical subtype
93109 Congenital megacalycosis93546Morphological anomaly
93176 Unilateral congenital megacalycosis93109Clinical subtype
93177 Congenital bilateral megacalycosis93109Clinical subtype
238637 Megacystis-megaureter syndrome93546Disease
411709 Renal agenesis357506, 93546Morphological anomaly
1848 Renal agenesis, bilateral411709Clinical subtype
93100 Renal agenesis, unilateral411709Clinical subtype
435365 Fetal lower urinary tract obstruction182124, 357506, 93546Clinical group
2970 Prune belly syndrome435365Malformation syndrome
105 Atresia of urethra435365Morphological anomaly
93110 Posterior urethral valve435365Morphological anomaly
435372 Anterior urethral valve435365Morphological anomaly
435743 Congenital urachal anomaly182124, 93546Category
488 Urachal cyst435743Morphological anomaly
431341 Patent urachus435743Morphological anomaly
431344 Urachal sinus435743Morphological anomaly
431347 Urachal diverticulum435743Morphological anomaly
289365 Familial vesicoureteral reflux156622, 182124, 93546Malformation syndrome
652528 Supernumerary kidney93546Morphological anomaly
93547 Syndromic renal or urinary tract malformation183539, 506213, 93545Category
881 Turner syndrome165707, 263717, 325546, 325638, 399877, 477771, 485382, 568047, 93547, 95710, 98574, 98642Malformation syndrome
99226 Monosomy X syndrome881Etiological subtype
99228 Mosaic monosomy X syndrome881Etiological subtype
99413 Turner syndrome due to structural X chromosome anomalies881Etiological subtype
138 CHARGE syndrome102283, 156237, 156532, 165707, 181387, 331220, 399846, 611327, 90642, 93547, 98655Malformation syndrome
567 22q11.2 deletion syndrome102283, 117573, 138047, 139036, 156532, 181402, 262182, 331220, 611327, 90642, 93547, 98033Malformation syndrome
783 Rubinstein-Taybi syndrome102283, 139021, 183422, 183570, 240371, 252190, 498454, 611327, 93547, 98638, 98655Malformation syndrome
353277 Rubinstein-Taybi syndrome due to CREBBP mutations783Etiological subtype
353281 Rubinstein-Taybi syndrome due to 16p13.3 microdeletion261956, 783Etiological subtype
353284 Rubinstein-Taybi syndrome due to EP300 haploinsufficiency783Etiological subtype
893 WAGR syndrome102283, 183422, 240371, 261947, 319328, 325638, 522548, 611327, 93547, 98087, 98557, 98638, 98641Malformation syndrome
107 BOR syndrome102285, 139036, 156202, 156237, 183576, 330206, 90642, 93547Malformation syndrome
195 Cat-eye syndrome117573, 263708, 519276, 93547Malformation syndrome
52 Alagille syndrome101941, 102285, 108973, 156532, 156607, 183422, 330206, 506210, 519276, 93547Malformation syndrome
261600 Alagille syndrome due to 20p12 microdeletion261992, 52Etiological subtype
261619 Alagille syndrome due to a JAG1 point mutation52Etiological subtype
261629 Alagille syndrome due to a NOTCH2 point mutation52Etiological subtype
564 Meckel syndrome108973, 139039, 156162, 156165, 269531, 269564, 294959, 459787, 471383, 522548, 93547, 93587, 98641, 98655Malformation syndrome
289 Ellis Van Creveld syndrome1505, 156162, 156165, 156532, 79373, 93547, 93587Malformation syndrome
3378 Trisomy 13 syndrome108979, 117573, 93547, 98131, 98642Malformation syndrome
3380 Trisomy 18 syndrome108979, 117573, 93547, 98131, 98642Malformation syndrome
887 VACTERL/VATER association102285, 108961, 117573, 93547Malformation syndrome
373 Simpson-Golabi-Behmel syndrome102283, 108979, 156207, 156237, 180779, 183422, 611327, 93460, 93547Malformation syndrome
3027 Caudal regression syndrome268843, 444941, 645202, 93547Malformation syndrome
2052 Fraser syndrome102283, 102285, 117573, 330206, 611327, 90642, 93547, 98562Malformation syndrome
955 Hajdu-Cheney syndrome182231, 486955, 93449, 93547Malformation syndrome
971 Acrorenal syndrome102285, 330206, 93547Malformation syndrome
1064 Aniridia-renal agenesis-psychomotor retardation syndrome102283, 522520, 611327, 93547, 98557, 98638, 98683Malformation syndrome
1133 AREDYLD syndrome181381, 183625, 79373, 93547Malformation syndrome
1834 Axial mesodermal dysplasia spectrum117573, 93547Malformation syndrome
1896 EEC syndrome156237, 498477, 519288, 522558, 93547, 98609Malformation syndrome
1973 Faciocardiorenal syndrome102283, 611327, 93547Malformation syndrome
2186 Hydrocephalus-blue sclerae-nephropathy syndrome519296, 93547Malformation syndrome
2237 Hypoparathyroidism-sensorineural deafness-renal disease syndrome181402, 261938, 90642, 93547Malformation syndrome
2241 Megacystis-microcolon-intestinal hypoperistalsis syndrome104009, 93547Malformation syndrome
2256 Fibulo-ulnar hypoplasia-renal anomalies syndrome102285, 330206, 93547Malformation syndrome
672 Pallister-Hall syndrome102283, 117573, 156162, 294959, 611327, 93547, 95495Malformation syndrome
2278 Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome102283, 281244, 522548, 611327, 93547, 98641Malformation syndrome
2669 Nephrosis-deafness-urinary tract-digital malformations syndrome102285, 165707, 330206, 90642, 93547Malformation syndrome
1475 Renal coloboma syndrome519345, 93547Malformation syndrome
2673 Neurofaciodigitorenal syndrome102283, 611327, 93547Malformation syndrome
2697 Arthrogryposis-renal dysfunction-cholestasis syndrome101941, 1037, 156607, 281241, 309816, 93547Malformation syndrome
2704 Urofacial syndrome93547Malformation syndrome
2750 Orofaciodigital syndrome type 1102283, 140997, 183460, 611327, 79372, 79373, 90642, 93547Malformation syndrome
2774 Multicentric carpo-tarsal osteolysis with or without nephropathy93449, 93547Malformation syndrome
2820 Spastic paraplegia-nephritis-deafness syndrome100979, 90642, 93547Clinical syndrome
3109 Mayer-Rokitansky-Küster-Hauser syndrome180068, 399882, 400025, 93547Malformation syndrome
2578 Mayer-Rokitansky-Küster-Hauser syndrome type 2117573, 3109Clinical subtype
247775 Mayer-Rokitansky-Küster-Hauser syndrome type 13109Clinical subtype
798 Schinzel-Giedion syndrome102283, 183422, 611327, 93547Malformation syndrome
3186 Holoprosencephaly-radial heart renal anomalies syndrome102283, 611327, 93547Malformation syndrome
3316 Thomas syndrome102285, 139039, 156532, 330206, 93547Malformation syndrome
3326 Thymic-renal-anal-lung dysplasia102285, 330206, 93547Malformation syndrome
3327 Thyrocerebrorenal syndrome93547Malformation syndrome
3404 Ulbright-Hodes syndrome102283, 611327, 93547Malformation syndrome
1192 Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome90642, 93547Malformation syndrome
3411 Double uterus-hemivagina-renal agenesis syndrome165707, 180148, 93547Malformation syndrome
818 Smith-Lemli-Opitz syndrome102283, 139021, 183570, 294959, 325511, 611327, 79195, 93547, 98574, 98578, 98650Malformation syndrome
93111 HNF1B-related autosomal dominant tubulointerstitial kidney disease181376, 183625, 34149, 93547Clinical subtype
217266 BNAR syndrome102285, 117573, 156246, 330206, 435606, 93547Malformation syndrome
439897 Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome1037, 156162, 165707, 269523, 269528, 269567, 93547Malformation syndrome
444069 Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome156162, 269531, 269564, 459787, 471383, 93547Malformation syndrome
2111 Cystic hamartoma of lung and kidney93547, 93619Disease
3015 Radio-renal syndrome294955, 404574, 93547Malformation syndrome
500135 Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome156162, 165707, 269531, 269564, 459787, 471383, 93547Malformation syndrome
71273 Renal nutcracker syndrome165711, 93547Disease
2838 Renal caliceal diverticuli-deafness syndrome90642, 93547Malformation syndrome
1756 Caudal duplication117573, 269531, 93547Malformation syndrome
500095 Tall stature-intellectual disability-renal anomalies syndrome102283, 611327, 93547Malformation syndrome
508488 8q24.3 microdeletion syndrome102283, 139021, 156532, 183570, 262065, 611327, 93547Malformation syndrome
592574 Menke-Hennekam syndrome102283, 139021, 183570, 611327, 93547Malformation syndrome
521438 Congenital vertebral-cardiac-renal anomalies syndrome102285, 156532, 330206, 90642, 93547Malformation syndrome
3032 NPHP3-related Meckel-like syndrome101939, 156180, 156604, 269546, 269570, 93547Malformation syndrome
597743 SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome102283, 156532, 165707, 269528, 611327, 93547Malformation syndrome
656130 PBX1-related congenital anomalies of kidney-urinary tract syndrome102283, 611327, 90642, 93547Disease
689822 Structural heart defects-renal anomalies syndrome102285, 156532, 330206, 93547Malformation syndrome
97965 Rare surgical cardiac disease93890Category
88991 Rare congenital non-syndromic heart malformation97965Category
474347 Rare congenital anomaly of ventricular septum88991Clinical group
99094 Laubry-Pezzi syndrome474347Morphological anomaly
99092 Interventricular septum aneurysm474347Morphological anomaly
99095 Congenital Gerbode defect88991Morphological anomaly
2846 Congenital pericardium anomaly88991Category
99129 Congenital complete agenesis of pericardium2846Morphological anomaly
99130 Congenital partial agenesis of pericardium2846Morphological anomaly
99131 Pleuro-pericardial cyst2846Morphological anomaly
1081 Coronary artery congenital malformation88991Category
2041 Coronary arterial fistula1081Morphological anomaly
95491 Congenital coronary artery aneurysm1081Morphological anomaly
541478 Anomalous aortic origin of coronary artery1081Clinical group
541443 Anomalous aortic origin of the left coronary artery541478Morphological anomaly
541454 Anomalous aortic origin of the right coronary artery541478Morphological anomaly
541507 Anomalous origin of coronary artery from the pulmonary artery1081Morphological anomaly
542822 Anomaly of the coronary ostia1081Clinical group
99087 Coronary ostial stenosis or atresia542822Morphological anomaly
99089 Abnormal number of coronary ostia542822Morphological anomaly
99090 Malposition of a coronary ostium542822Morphological anomaly
1686 Cardiac diverticulum88991Morphological anomaly
1461 Criss-cross heart88991Morphological anomaly
95483 Univentricular cardiopathy88991Category
2248 Hypoplastic left heart syndrome95483Morphological anomaly
1464 Univentricular heart95483Morphological anomaly
98723 Hypoplastic right heart syndrome95483Clinical group
1208 Pulmonary atresia-intact ventricular septum syndrome98719, 98723Morphological anomaly
439 Isolated right ventricular hypoplasia98723Morphological anomaly
98716 Heart position anomaly88991Category
450 Visceral heterotaxy98716Category
1666 Dextrocardia450Morphological anomaly
95854 Levocardia450Morphological anomaly
97548 Right isomerism108973, 271853, 450Malformation syndrome
101063 Situs inversus totalis108971, 271853, 450Morphological anomaly
157769 Situs ambiguus108971, 271853, 450Morphological anomaly
566862 Left isomerism271853, 450Malformation syndrome
95443 Mesocardia98716Morphological anomaly
98717 Transposition of the great arteries and conotruncal cardiac anomaly88991Category
2445 Conotruncal heart malformations98717Category
3303 Tetralogy of Fallot2445Malformation syndrome
3384 Common arterial trunk2445, 477805Morphological anomaly
665058 Common arterial trunk with pulmonary dominance and interrupted aortic arch3384Clinical subtype
665044 Common arterial trunk with aortic dominance3384Clinical subtype
982 Pulmonary valve agenesis2445, 98719Clinical group
99048 Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome982Malformation syndrome
101206 Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome982Malformation syndrome
1138 Abnormal origin of the pulmonary artery2445Clinical group
658574 Isolated pulmonary artery sling1138Morphological anomaly
99049 Pulmonary artery coming from patent ductus arteriosus1138Morphological anomaly
99050 Abnormal origin of right or left pulmonary artery from the aorta1138, 182111Morphological anomaly
1207 Pulmonary atresia with ventricular septal defect2445Morphological anomaly
2037 Congenital aortopulmonary window2445Morphological anomaly
3426 Double outlet right ventricle2445, 271853Morphological anomaly
99043 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis3426Clinical subtype
99045 Double outlet right ventricle with subpulmonary ventricular septal defect3426Clinical subtype
99046 Double outlet right ventricle with non-committed subpulmonary ventricular septal defect3426Clinical subtype
423693 Double outlet right ventricle with subaortic or doubly committed ventricular septal defect3426Clinical subtype
423712 Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy3426Clinical subtype
3427 Double outlet left ventricle2445Morphological anomaly
98718 Aortic malformation98717, 98724Category
3193 Supravalvular aortic stenosis271853, 98718Morphological anomaly
1457 Coarctation of aorta98718Morphological anomaly
2299 Aortic arch interruption98718Morphological anomaly
3092 Fixed subaortic stenosis98718Morphological anomaly
99051 Discrete fixed membranous subaortic stenosis3092Clinical subtype
99052 Discrete fibromuscular subaortic stenosis3092Clinical subtype
99053 Tunnel subaortic stenosis3092Clinical subtype
3093 Congenital aortic valve stenosis98718, 98725Morphological anomaly
95448 Congenital aortic valve atresia3093Clinical subtype
101043 Congenital aortic valve dysplasia3093Clinical subtype
402075 Familial bicuspid aortic valve271853, 285014, 98718Morphological anomaly
1456 Middle aortic syndrome98718Morphological anomaly
542568 Quadricuspid aortic valve98718Morphological anomaly
98719 Pulmonary artery or pulmonary branch anomaly98717, 98724Category
980 Absence of the pulmonary artery98719Morphological anomaly
3189 Congenital pulmonary valvar stenosis98719Morphological anomaly
3190 Subpulmonary stenosis3189Clinical subtype
3192 Supravalvular pulmonary stenosis3189Clinical subtype
99054 Valvular pulmonary stenosis3189Clinical subtype
1676 Idiopathic pulmonary artery dilatation98719Disease
99083 Pulmonary artery hypoplasia182111, 98719Morphological anomaly
99084 Peripheral pulmonary stenosis98719Morphological anomaly
216675 Transposition of the great arteries98717Category
860 Congenitally uncorrected transposition of the great arteries216675, 271853Morphological anomaly
99042 Congenitally uncorrected transposition of the great arteries with coarctation860Clinical subtype
216718 Isolated congenitally uncorrected transposition of the great arteries860Clinical subtype
216729 Congenitally uncorrected transposition of the great arteries with cardiac malformation860Clinical subtype
216694 Congenitally corrected transposition of the great arteries216675Morphological anomaly
98720 Atrioventricular valve anomaly88991Category
2447 Congenital mitral malformation98720Category
95464 Congenital mitral valve insufficiency and/or stenosis2447Category
741 Familial mitral valve prolapse271853, 95464Morphological anomaly
1205 Mitral atresia95464Morphological anomaly
99057 Congenital mitral stenosis95464Morphological anomaly
99058 Hypoplasia of the mitral valve annulus95464Morphological anomaly
99059 Congenital supravalvular mitral ring95464Morphological anomaly
99060 Congenital unguarded mitral orifice95464Morphological anomaly
99061 Accessory mitral valve tissue95464Morphological anomaly
99062 Mitral valve agenesis95464Morphological anomaly
99063 Shone complex95464Malformation syndrome
101932 Anomaly of the mitral subvalvular apparatus95464Morphological anomaly
95465 Cleft mitral valve2447Morphological anomaly
95474 Double-orifice mitral valve95465Clinical subtype
99064 Straddling and/or overriding mitral valve95465Clinical subtype
98721 Congenital tricuspid malformation98720Category
95459 Congenital tricuspid stenosis98721Morphological anomaly
95461 Straddling or overriding tricuspid valve98721Morphological anomaly
95462 Accessory tricuspid valve tissue98721Morphological anomaly
95463 Anomaly of the tricuspid subvalvular apparatus98721Category
99055 Congenital anomaly of the tricuspid valve chordae95463Morphological anomaly
99056 Parachute tricuspid valve95463Morphological anomaly
555874 Congenital tricuspid valve dysplasia98721Morphological anomaly
1880 Ebstein malformation of the tricuspid valve477805, 98721Morphological anomaly
1209 Tricuspid atresia98721Morphological anomaly
95457 Tricuspid valve agenesis98721Morphological anomaly
98722 Atrioventricular septal defect271853, 98720Clinical group
1329 Complete atrioventricular septal defect98722Morphological anomaly
576227 Complete atrioventricular septal defect without ventricular hypoplasia1329Clinical subtype
99067 Complete atrioventricular septal defect with ventricular hypoplasia1329Clinical subtype
99068 Complete atrioventricular septal defect-tetralogy of Fallot1329Clinical subtype
1330 Partial atrioventricular septal defect98722Morphological anomaly
576232 Partial atrioventricular septal defect with ventricular hypoplasia1330Clinical subtype
576235 Partial atrioventricular septal defect without ventricular hypoplasia1330Clinical subtype
576242 Intermediate atrioventricular septal defect98722Morphological anomaly
555877 FLNA-related X-linked myxomatous valvular dysplasia477805, 98720Morphological anomaly
98724 Congenital anomaly of the great arteries458844, 88991Category
1132 Aortic arch defects108995, 182111, 98724Category
99075 Encircling double aortic arch1132Morphological anomaly
99076 Persistent fifth aortic arch1132Morphological anomaly
99077 Kommerell diverticulum1132Morphological anomaly
99078 Neuhauser anomaly1132Morphological anomaly
99079 Cervical aortic arch1132Morphological anomaly
99081 Right aortic arch1132Morphological anomaly
99082 Dysphagia lusoria1132Morphological anomaly
185 Scimitar syndrome182111, 98724, 98729Malformation syndrome
95485 Arterial duct anomaly98724Category
95486 Premature closure of the arterial duct95485Morphological anomaly
99072 Congenital patent ductus arteriosus aneurysm95485Morphological anomaly
466729 Familial patent arterial duct211240, 271853, 95485Morphological anomaly
98725 Ascending aorta anomaly98724Category
1054 Aneurysm of sinus of Valsalva98725Morphological anomaly
3400 Aorto-ventricular tunnel98725Morphological anomaly
99070 Aorto-right ventricular tunnel3400Clinical subtype
99071 Aorto-left ventricular tunnel3400Clinical subtype
98727 Rare atrial defect and interatrial communication88991Category
1478 Interatrial communication271853, 98727Morphological anomaly
99103 Atrial septal defect, ostium secundum type1478Clinical subtype
99104 Atrial septal defect, coronary sinus type1478Clinical subtype
99105 Atrial septal defect, sinus venosus type1478Clinical subtype
99106 Atrial septal defect, ostium primum type1478Clinical subtype
1463 Triatrial heart98727Clinical group
99098 Cor triatriatum dexter1463Morphological anomaly
99099 Cor triatriatum sinister1463Morphological anomaly
1677 Familial idiopathic dilatation of the right atrium477805, 98727Morphological anomaly
95510 Atrial appendage anomaly98727Category
99100 Juxtaposition of the atrial appendages95510Morphological anomaly
99101 Ectasia of the right atrial appendage95510Morphological anomaly
99102 Ectasia of the left atrial appendage95510Morphological anomaly
99107 Atrial septal aneurysm98727Morphological anomaly
568065 EPHB4-related lymphatic-related hydrops fetalis568044, 98727Disease
363189 Congenital anomaly of the great veins458844, 88991Category
3091 Congenital systemic veins anomaly363189Category
95498 Congenital anomaly of superior vena cava3091Category
652668 Primary superior vena cava aneurysm95498Malformation syndrome
99109 Persistent left superior vena cava connecting through coronary sinus to left-sided atrium95498Morphological anomaly
99110 Right superior vena cava connecting to left-sided atrium95498Morphological anomaly
99111 Persistent left superior vena cava connecting to the roof of left-sided atrium95498Morphological anomaly
99112 Absence of innominate vein95498Morphological anomaly
99113 Subaortic course of innominate vein95498Morphological anomaly
99114 Agenesis of the superior vena cava95498Morphological anomaly
95499 Congenital anomaly of the inferior vena cava3091Category
652678 Primary inferior vena cava aneurysm95499Morphological anomaly
99119 Right inferior vena cava connecting to left-sided atrium95499Morphological anomaly
99120 Persistent eustachian valve95499Morphological anomaly
99121 Azygos continuation of the inferior vena cava95499Morphological anomaly
99122 Congenital stenosis of the inferior vena cava95499Morphological anomaly
99123 Inferior vena cava interruption without azygos continuation95499Morphological anomaly
95500 Congenital anomaly of the coronary sinus3091Category
99117 Coronary sinus stenosis95500Morphological anomaly
99118 Coronary sinus atresia95500Morphological anomaly
95507 Congenital anomaly of hepatic vein101938, 3091, 506210Morphological anomaly
480531 Congenital portosystemic shunt101938, 3091, 506210Morphological anomaly
98729 Congenital pulmonary veins anomaly363189Category
3090 Congenital pulmonary venous return anomaly98729Clinical group
99124 Congenital partial pulmonary venous return anomaly3090Morphological anomaly
99125 Congenital total pulmonary venous return anomaly3090Morphological anomaly
3188 Congenital pulmonary veins atresia or stenosis182111, 506222, 98729Clinical group
99126 Congenital pulmonary vein atresia3188Morphological anomaly
642071 Primary pulmonary vein stenosis3188Disease
448270 Ectopia cordis88991Morphological anomaly
1055 Congenital left ventricular aneurysm88991Malformation syndrome
156532 Rare syndrome with cardiac malformations97965, 98054Category
488618 Transketolase deficiency102283, 139021, 156532, 183570, 611327, 79186Malformation syndrome
467176 Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome156532, 522520, 97245, 98683Disease
2475 White forelock with malformations102285, 156532, 330206, 519296Malformation syndrome
904 Williams syndrome102283, 139021, 139393, 156532, 156629, 183570, 262056, 306765, 506213, 611327, 98033, 98574Malformation syndrome
1352 Atrioventricular defect-blepharophimosis-radial and anal defect syndrome102285, 156532, 330206, 98578Malformation syndrome
2516 Microcephaly-cardiac defect-lung malsegmentation syndrome102285, 156532, 330206Malformation syndrome
2886 TARP syndrome102283, 138044, 156532, 363294, 611327Malformation syndrome
42775 PHACE syndrome102006, 102283, 156532, 210589, 269523, 269567, 371436, 459543, 477771, 611327Malformation syndrome
69737 Bosley-Salih-Alorainy syndrome102283, 156532, 611327, 90642Malformation syndrome
75389 Brain malformation-congenital heart disease-postaxial polydactyly syndrome102283, 156532, 611327Malformation syndrome
137628 Cardiac anomalies-heterotaxy syndrome156532Malformation syndrome
217026 Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type102285, 139021, 156532, 183570, 330206Malformation syndrome
228190 Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome156532, 228184Malformation syndrome
228410 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome102283, 139030, 156532, 611327Malformation syndrome
664404 6q25.1 microdeletion syndrome228410, 262047Etiological subtype
664401 Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation228410Etiological subtype
230851 Cardiac-valvular Ehlers-Danlos syndrome156532, 98249Disease
284247 Familial retinal arterial macroaneurysm156532, 183503, 71281, 716450, 717339Malformation syndrome
369891 Developmental delay-facial dysmorphism syndrome due to MED13L deficiency102283, 156532, 271853, 611327Malformation syndrome
371183 Congenital disorder of glycosylation with cardiac malformation as a major feature156532, 371235Category
709 Peters plus syndrome102283, 309505, 371047, 371183, 519276, 611327, 98638, 98644Malformation syndrome
2953 Musculocontractural Ehlers-Danlos syndrome309450, 371047, 371183, 371200, 371207, 97120, 98249Disease
3474 CHIME syndrome102283, 309515, 371071, 371183, 371200, 371212, 522520, 611327, 79373, 98683Malformation syndrome
79329 MGAT2-CDG309347, 371047, 371183, 611314Disease
79333 COG7-CDG102283, 309568, 371071, 371183, 371200, 611327Disease
284139 Larsen-like syndrome, B3GAT3 type139030, 309450, 371183, 371195, 93441Malformation syndrome
444077 Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome102283, 139021, 156532, 183570, 240371, 611327Malformation syndrome
98733 Noonan syndrome and Noonan-related syndrome139021, 156532, 183570, 536391Category
638 Neurofibromatosis-Noonan syndrome183466, 183487, 79375, 79386, 98196, 98733Malformation syndrome
453499 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome102283, 156532, 611327, 93454Malformation syndrome
352665 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion262074, 453499Etiological subtype
453504 Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation453499Etiological subtype
3191 Subaortic stenosis-short stature syndrome102285, 139021, 156532, 183570, 330206Malformation syndrome
457193 KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome102283, 156532, 611327Malformation syndrome
562569 TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome102283, 156532, 611327Malformation syndrome
870 Down syndrome102283, 117573, 156532, 477771, 522564, 611327, 98131, 98571, 98574, 98576, 98623, 98642Malformation syndrome
2519 Microcephaly-seizures-intellectual disability-heart disease syndrome102283, 156532, 522520, 611327Malformation syndrome
496693 Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome102283, 102285, 108979, 156532, 180779, 294955, 404574, 611327Malformation syndrome
508476 Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome102285, 139039, 156532, 330206, 90642Malformation syndrome
508498 Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome102283, 139021, 156532, 183570, 611327Malformation syndrome
1354 Heart defects-limb shortening syndrome102285, 156532, 294955, 330206, 404574Malformation syndrome
580933 Lethal brain and heart developmental defects156532, 269523, 459787, 471383Malformation syndrome
589435 Spondylometaphyseal dysplasia-corneal dystrophy syndrome102283, 156532, 254, 611327, 98628Malformation syndrome
592570 TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome102283, 109009, 156532, 269531, 269564, 404577, 611327Malformation syndrome
664438 Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome102283, 139042, 156532, 183580, 611327, 98746Malformation syndrome
684305 Neurooculocardiogenitourinary syndrome102283, 156532, 165707, 519288, 611327Disease
684742 2q13 microdeletion syndrome102283, 156532, 262010, 611327Malformation syndrome
688642 Turnpenny-Fry syndrome102283, 156532, 269531, 611327, 90642Malformation syndrome
646278 CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome102283, 156532, 611327Disease
98038 Cranial malformation93890Category
97340 Hunter-McAlpine syndrome98038Malformation syndrome
2050 Cole-Carpenter syndrome102285, 183542, 330206, 519296, 93446, 98038Malformation syndrome
1531 Craniosynostosis183542, 364559, 404568, 98038Category
139390 Non-syndromic craniosynostosis1531Clinical group
620096 Non-syndromic unisutural craniosynostosis139390Clinical group
620102 Non-syndromic unicoronal craniosynostosis620096Morphological anomaly
620113 Non-syndromic unilambdoid craniosynostosis620096Morphological anomaly
620139 Non-syndromic unifrontosphenoidal craniosynostosis620096Morphological anomaly
620146 Non-syndromic unisquamosal craniosynostosis620096Morphological anomaly
3366 Non-syndromic metopic craniosynostosis620096, 98684Morphological anomaly
35093 Non-syndromic sagittal craniosynostosis620096, 98684Morphological anomaly
620152 Non-syndromic multisutural craniosynostosis139390Clinical group
620158 Non-syndromic non-specific multisutural craniosynostosis620152Morphological anomaly
620178 Non-syndromic bilambdoid craniosynostosis620152Morphological anomaly
620186 Non-syndromic unicoronal and sagittal craniosynostosis620152Morphological anomaly
620192 Non-syndromic metopic and sagittal craniosynostosis620152Morphological anomaly
620198 Non-syndromic bicoronal and metopic craniosynostosis620152Morphological anomaly
620205 Non-syndromic bicoronal and sagittal craniosynostosis620152Morphological anomaly
620212 Non-syndromic pansynostosis620152Morphological anomaly
35099 Non-syndromic bicoronal craniosynostosis611314, 620152, 98684Morphological anomaly
1516 Non-syndromic bilambdoid and sagittal craniosynostosis620152Malformation syndrome
139393 Syndromic craniosynostosis1531Category
207 Crouzon syndrome139393, 98650, 98684Malformation syndrome
1308 C syndrome102283, 139393, 611327Malformation syndrome
87 Apert syndrome102283, 138055, 139393, 611327, 98650, 98684Malformation syndrome
83 Antley-Bixler syndrome102283, 139393, 611327Malformation syndrome
63269 Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis418, 83, 90776, 90786Clinical subtype
596008 Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis83Clinical subtype
1225 Baller-Gerold syndrome117573, 139393Malformation syndrome
1515 Cranioectodermal dysplasia139393, 1505, 156162, 506213, 716405, 79373, 93587Malformation syndrome
1527 Craniosynostosis, Philadelphia type139393, 294959Malformation syndrome
1528 Craniotelencephalic dysplasia102010, 139393Malformation syndrome
1540 Jackson-Weiss syndrome139393Malformation syndrome
1553 Curry-Jones syndrome102283, 139393, 199639, 611327Malformation syndrome
1555 Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome102285, 139393, 330206, 477808, 79381Malformation syndrome
2145 Craniosynostosis, Herrmann-Opitz type139393Malformation syndrome
2163 Holoprosencephaly-craniosynostosis syndrome139393, 269531, 522520, 98683Malformation syndrome
2409 Lowry-MacLean syndrome102283, 139393, 611327, 98638Malformation syndrome
2462 Shprintzen-Goldberg syndrome102283, 139393, 284993, 611327Malformation syndrome
2872 Cardiocranial syndrome, Pfeiffer type102283, 139393, 611327Malformation syndrome
3134 SCARF syndrome102283, 139393, 209, 611327Malformation syndrome
313855 FGFR2-related bent bone dysplasia139393, 93439Disease
3365 Trigonocephaly-broad thumbs syndrome139393Malformation syndrome
3369 Trigonocephaly-short stature-developmental delay syndrome102283, 139393, 611327Malformation syndrome
2898 X-linked intellectual disability-plagiocephaly syndrome102283, 139393, 611327Malformation syndrome
1541 Craniosynostosis, Boston type139393Malformation syndrome
1524 Craniomicromelic syndrome139393Malformation syndrome
52054 Craniosynostosis-intracranial calcifications syndrome139393Malformation syndrome
53271 Muenke syndrome102283, 139393, 611327Malformation syndrome
247651 Infantile hypophosphatasia139393, 436, 98027Clinical subtype
85199 Craniosynostosis-anal anomalies-porokeratosis syndrome139393, 93451Malformation syndrome
93262 Crouzon syndrome-acanthosis nigricans syndrome139393, 98684Malformation syndrome
93267 Cloverleaf skull-multiple congenital anomalies syndrome139393, 522548, 98641Malformation syndrome
247638 Prenatal benign hypophosphatasia139393, 436Clinical subtype
100978 Cloverleaf skull-asphyxiating thoracic dysplasia syndrome139393Malformation syndrome
169163 Familial scaphocephaly syndrome139393Category
1538 Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome169163, 269546, 269570Malformation syndrome
168624 Familial scaphocephaly syndrome, McGillivray type102283, 169163, 611327Malformation syndrome
171839 Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome139393, 269531Malformation syndrome
178377 Osteosclerosis-developmental delay-craniosynostosis syndrome139393Malformation syndrome
221054 Acrocephalopolydactyly139393Malformation syndrome
284149 Craniosynostosis-dental anomalies139042, 139393, 183580Malformation syndrome
293925 Lethal occipital encephalocele-skeletal dysplasia syndrome139393Malformation syndrome
247667 Childhood-onset hypophosphatasia139393, 436, 98027Clinical subtype
293843 3MC syndrome102283, 139393, 611327Malformation syndrome
79213 Mucopolysaccharidosis139009, 139393, 506219, 68366, 98638Category
583 Mucopolysaccharidosis type 679213, 93448Disease
276212 Mucopolysaccharidosis type 6, rapidly progressing583Clinical subtype
276223 Mucopolysaccharidosis type 6, slowly progressing583Clinical subtype
584 Mucopolysaccharidosis type 7611314, 79213, 93448Disease
579 Mucopolysaccharidosis type 1611314, 68385, 79213, 93448Disease
93474 Scheie syndrome579Clinical subtype
581 Mucopolysaccharidosis type 3225681, 611314, 68385, 79213, 93448, 98644Disease
79269 Sanfilippo syndrome type A581Etiological subtype
79270 Sanfilippo syndrome type B581Etiological subtype
79271 Sanfilippo syndrome type C581Etiological subtype
79272 Sanfilippo syndrome type D581Etiological subtype
582 Mucopolysaccharidosis type 479213, 93448Disease
309310 Mucopolysaccharidosis type 4B582Clinical subtype
309297 Mucopolysaccharidosis type 4A582Clinical subtype
67041 Hyaluronidase deficiency79213, 93448Disease
662216 Mucopolysaccharidosis type 10611314, 68385, 79213, 93448Disease
2645 Osteoglosphonic dysplasia139393, 93450Malformation syndrome
3270 Radioulnar synostosis-developmental delay-hypotonia syndrome102283, 139393, 522520, 611327, 93459, 98683Malformation syndrome
369837 Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome102283, 139393, 309515, 371195, 611327Malformation syndrome
1520 Craniofrontonasal dysplasia102283, 139393, 250, 364574, 611327Malformation syndrome
65759 Carpenter syndrome102283, 139393, 240371, 363250, 611327Malformation syndrome
2655 Thanatophoric dysplasia139393, 364536, 93420Disease
1860 Thanatophoric dysplasia type 12655Clinical subtype
93274 Thanatophoric dysplasia type 22655Clinical subtype
763 Pycnodysostosis139393, 2781, 68366Disease
1465 Coffin-Siris syndrome102283, 139393, 498454, 611327Malformation syndrome
36 Acrocallosal syndrome102283, 139393, 199639, 269573, 294959, 611327Malformation syndrome
235 Dubowitz syndrome102283, 139021, 139393, 183570, 611327, 79373, 98578Malformation syndrome
647681 Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome139393Malformation syndrome
565858 Craniosynostosis-microretrognathia-severe intellectual disability syndrome102283, 139393, 166472, 611327Malformation syndrome
672979 Craniosynostosis-facial dysmorphism-brachydactyly syndrome139393Malformation syndrome
672985 Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome139393Malformation syndrome
2332 KBG syndrome102283, 139021, 139042, 139393, 183580, 611327Malformation syndrome
96169 Koolen-De Vries syndrome102283, 139393, 611327Malformation syndrome
363958 17q21.31 microdeletion syndrome262137, 96169Etiological subtype
363965 Koolen-De Vries syndrome due to a point mutation96169Etiological subtype
97297 Bohring-Opitz syndrome102283, 139393, 611327Malformation syndrome
1906 Fetal valproate spectrum disorder138059, 139393, 370068Malformation syndrome
710 Pfeiffer syndrome139393, 98684Malformation syndrome
93258 Pfeiffer syndrome type 1710Clinical subtype
93259 Pfeiffer syndrome type 2710Clinical subtype
93260 Pfeiffer syndrome type 3710Clinical subtype
794 Saethre-Chotzen syndrome139393, 183422, 611314, 98578, 98684Malformation syndrome
945 Acalvaria98038Malformation syndrome
1513 Craniodiaphyseal dysplasia183542, 93444, 98038Malformation syndrome
1790 Hypomandibular faciocranial dysostosis102283, 183542, 611327, 98038Malformation syndrome
77296 Morgagni-Stewart-Morel syndrome183542, 98038Malformation syndrome
1114 Aplasia cutis congenita183481, 183542, 79380, 98038Malformation syndrome
93451 Cleidocranial dysplasia and isolated cranial ossification defect364526, 98038Category
251290 Parietal foramina with clavicular hypoplasia93451Malformation syndrome
1452 Cleidocranial dysplasia139042, 183542, 93451Malformation syndrome
3034 Delayed membranous cranial ossification183542, 93451Malformation syndrome
3472 Yunis-Varon syndrome102283, 611327, 93451Malformation syndrome
60015 Enlarged parietal foramina183542, 93451Malformation syndrome
974 Adams-Oliver syndrome102283, 183481, 183542, 294955, 404574, 498454, 522548, 611327, 79380, 98038, 98641Malformation syndrome
1522 Craniometaphyseal dysplasia183542, 93444, 98038Malformation syndrome
1826 Frontometaphyseal dysplasia102283, 183542, 364541, 611327, 98038Disease
2780 Osteopathia striata-cranial sclerosis syndrome183542, 2781, 611314, 98038Malformation syndrome
2763 Osteocraniostenosis183542, 93440, 98038Malformation syndrome
98039 Digestive tract malformation165711, 93890Category
88993 Esophageal malformation183545, 98039Category
108959 Non-syndromic esophageal malformation88993Category
1199 Esophageal atresia108959Morphological anomaly
91357 Duplication of the esophagus108959Clinical group
100047 Isolated esophageal duplication cyst91357Morphological anomaly
100048 Isolated tubular duplication of the esophagus91357Morphological anomaly
91358 Congenital esophageal diverticulum108959Morphological anomaly
645749 Congenital esophageal stenosis108959Morphological anomaly
2004 Laryngotracheoesophageal cleft108959, 108993, 156249, 182111Morphological anomaly
93938 Laryngotracheoesophageal cleft type 12004Clinical subtype
93939 Laryngotracheoesophageal cleft type 22004Clinical subtype
93940 Laryngotracheoesophageal cleft type 32004Clinical subtype
93941 Laryngotracheoesophageal cleft type 42004Clinical subtype
280205 Laryngotracheoesophageal cleft type 02004Clinical subtype
454750 Isolated tracheoesophageal fistula108959, 108993, 182111Morphological anomaly
108961 Syndromic esophageal malformation88993Category
869 Triple A syndrome101960, 108961, 207015, 371445, 611314, 98604Disease
929 Achalasia-microcephaly syndrome108961, 371445Malformation syndrome
1305 Feingold syndrome102283, 108961, 108965, 108993, 117573, 371445, 498454, 611327Malformation syndrome
391641 Feingold syndrome type 11305Clinical subtype
391646 Feingold syndrome type 21305Clinical subtype
77298 Anophthalmia/microphthalmia-esophageal atresia syndrome102283, 108961, 202948, 371445, 611327, 95495Malformation syndrome
514352 Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome108961, 371445Malformation syndrome
97944 Gastroduodenal malformation183545, 98039Category
108963 Non-syndromic gastroduodenal malformation97944Category
662376 Isolated gastric duplication108963Morphological anomaly
662405 Isolated pyloric duplication108963Morphological anomaly
1203 Duodenal atresia108963, 108967Morphological anomaly
199293 Congenital microgastria108963Morphological anomaly
108965 Syndromic gastroduodenal malformation97944Category
2538 Microgastria-limb reduction defect syndrome102283, 108965Malformation syndrome
97945 Intestinal malformation183545, 506216, 98039Category
108967 Non-syndromic intestinal malformation97945Category
2300 Isolated multiple intestinal atresia108967Morphological anomaly
2301 Congenital short bowel syndrome108967, 365563Morphological anomaly
1201 Small bowel atresia108967, 365563Morphological anomaly
1198 Colonic atresia108967Morphological anomaly
662456 Isolated small intestine duplication108967Morphological anomaly
662473 Isolated duodenal duplication662456Clinical subtype
662480 Isolated jejuno-ileal duplication662456Clinical subtype
508410 Familial intestinal malrotation108967Morphological anomaly
662392 Isolated colonic duplication108967Morphological anomaly
108969 Syndromic intestinal malformation97945Category
557866 Rare disorder with Hirschsprung disease as a major feature108969Category
110 Bardet-Biedl syndrome102283, 104009, 156162, 156180, 156183, 181387, 240371, 399846, 506213, 557866, 611327, 716405, 93587Disease
66629 Goldberg-Shprintzen megacolon syndrome102283, 104009, 139039, 557866, 611327, 98578Malformation syndrome
99803 Haddad syndrome101944, 104009, 156610, 423662, 434786, 522520, 557866, 98683Malformation syndrome
163746 Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease104009, 183469, 557866, 611314, 68356, 79376, 90642, 98497Disease
897 Waardenburg-Shah syndrome104009, 183469, 557866, 79376, 90642Disease
2150 Hirschsprung disease-type D brachydactyly syndrome102285, 104009, 330206, 557866Malformation syndrome
2152 Mowat-Wilson syndrome102283, 166472, 557866, 611327Malformation syndrome
261537 Mowat-Wilson syndrome due to monosomy 2q22166469, 2152, 262010Etiological subtype
261552 Mowat-Wilson syndrome due to a ZEB2 point mutation2152Etiological subtype
2153 Hirschsprung disease-nail hypoplasia-dysmorphism syndrome104009, 557866, 79370Malformation syndrome
2155 Hirschsprung disease-deafness-polydactyly syndrome102285, 104009, 330206, 557866, 90642Malformation syndrome
2464 Marfanoid syndrome, De Silva type108969Malformation syndrome
1759 Thoraco-abdominal enteric duplication108969Malformation syndrome
3405 Umbilical cord ulceration-intestinal atresia syndrome108969Malformation syndrome
293864 Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome108969, 108973, 498350Malformation syndrome
436252 Combined immunodeficiency-multiple intestinal atresia108969, 331217, 506219Disease
527468 Diaphragmatic hernia-short bowel-asplenia syndrome108969, 108973, 108979, 180779, 459787, 471383Malformation syndrome
506307 Stromme syndrome102283, 108969, 156162, 156165, 519276, 611327, 716459, 717348Malformation syndrome
684757 Malformation of the anal canal and the rectum183545, 98039Category
96346 Anorectal malformation506216, 684757Category
557 Non-syndromic anorectal malformation96346Clinical group
600952 Non-syndromic perineal fistula557Morphological anomaly
600961 Non-syndromic rectourethral fistula557Morphological anomaly
600966 Non-syndromic rectourethral fistula, bulbar type600961Clinical subtype
600975 Non-syndromic rectourethral fistula, prostatic type600961Clinical subtype
600984 Non-syndromic rectovesical fistula557Morphological anomaly
600993 Non-syndromic vestibular fistula557Morphological anomaly
600998 Non-syndromic cloacal malformation557Morphological anomaly
601002 Non-syndromic anorectal malformation without fistula557Morphological anomaly
601008 Non-syndromic anal stenosis557Morphological anomaly
601013 Non-syndromic pouch colon557Morphological anomaly
601018 Non-syndromic rectal atresia557Morphological anomaly
601023 Non-syndromic rectal stenosis557Morphological anomaly
601028 Non-syndromic rectovaginal fistula557Morphological anomaly
601033 Non-syndromic H-type fistula557Morphological anomaly
117573 Syndromic anorectal malformation96346Category
857 Townes-Brocks syndrome102285, 117573, 294959, 330206, 90642Malformation syndrome
884 Pallister-Killian syndrome108979, 117573, 166469, 180779, 262658, 93461Malformation syndrome
1552 Currarino syndrome117573, 180148, 93454Malformation syndrome
1590 Distal deletion 13q syndrome117573, 262101, 98642Malformation syndrome
1436 X-linked skeletal dysplasia-intellectual disability syndrome102283, 117573, 611327, 93434Malformation syndrome
2315 Johanson-Blizzard syndrome102283, 117573, 139021, 177107, 183570, 611327, 79373, 95495Malformation syndrome
2322 Kabuki syndrome102283, 108979, 117573, 139021, 180779, 183570, 611327, 98570Malformation syndrome
2408 Lowe-Kohn-Cohen syndrome117573, 90642Malformation syndrome
2556 Microphthalmia with linear skin defects syndrome102283, 117573, 139027, 183481, 202948, 611327, 79380, 98638Malformation syndrome
2973 46,XX difference of sex development-anorectal anomalies syndrome117573, 180148, 325109Malformation syndrome
3138 Ulnar-mammary syndrome102283, 117573, 180173, 294955, 404574, 611327Malformation syndrome
3412 VACTERL with hydrocephalus102283, 117573, 611327Malformation syndrome
2745 Opitz GBBB syndrome102283, 108995, 117573, 165707, 611327, 98575Malformation syndrome
782 Axenfeld-Rieger syndrome102285, 117573, 330206, 519276, 95495, 98638Malformation syndrome
75857 6q terminal deletion syndrome117573, 262047Malformation syndrome
83628 LUMBAR syndrome102285, 117573, 210589, 269531, 330206, 79385Malformation syndrome
93271 Short rib-polydactyly syndrome, Verma-Naumoff type117573, 1505Malformation syndrome
93293 Okihiro syndrome117573, 294955, 404574, 522520, 98683Malformation syndrome
261638 Okihiro syndrome due to 20q13 microdeletion262164, 93293Etiological subtype
261647 Okihiro syndrome due to a point mutation93293Etiological subtype
96176 Ring chromosome 13 syndrome117573, 363203Malformation syndrome
96185 Maternal uniparental disomy of chromosome 16 syndrome117573, 98153Malformation syndrome
140952 Syndactyly-telecanthus-anogenital and renal malformations syndrome102285, 117573, 294959, 330206Malformation syndrome
444941 Caudal regression-sirenomelia spectrum109009, 117573, 165707, 404577Clinical group
3169 Sirenomelia444941Malformation syndrome
1768 Familial caudal dysgenesis269531, 269564, 444941Malformation syndrome
496751 EVEN-plus syndrome102285, 117573, 253, 330206Malformation syndrome
93932 FG syndrome type 1102283, 117573, 269531, 611327Disease
2345 Isolated Klippel-Feil syndrome117573, 93454Malformation syndrome
611201 Oculogastrointestinal-neurodevelopmental syndrome102283, 117573, 202948, 611327, 90642Malformation syndrome
93270 Short rib-polydactyly syndrome, Saldino-Noonan type117573, 1505Malformation syndrome
684752 Isolated anal canal duplication684757Morphological anomaly
171220 Isolated rectal duplication684757Morphological anomaly
98041 Visceral malformation of the liver, biliary tract, pancreas or spleen165711, 93890Category
108971 Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen183548, 506216, 98041Category
2040 Congenital respiratory-biliary fistula101941, 108971, 108993, 182111Morphological anomaly
2805 Partial pancreatic agenesis108971Morphological anomaly
675 Annular pancreas108971Morphological anomaly
674 Accessory pancreas108971Morphological anomaly
30391 Isolated biliary atresia108971, 498345, 506210Morphological anomaly
53035 Caroli disease101941, 108971, 156607, 506210Malformation syndrome
101351 Familial isolated congenital asplenia108971, 331193Morphological anomaly
457083 Isolated splenogonadal fusion108971Morphological anomaly
693869 Gallblader arteriovenous malformation108971, 693855Malformation syndrome
662388 Isolated gallbladder duplication101941, 108971Morphological anomaly
688523 Splenic venous malformation108971, 715334Disease
693863 Splenic arteriovenous malformation108971, 693855Malformation syndrome
693826 Pancreatic arteriovenous malformation108971, 693855Malformation syndrome
108973 Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen183548, 98041Category
294415 Renal-hepatic-pancreatic dysplasia101939, 108973, 156162, 156180, 156604, 506213, 93587Malformation syndrome
2063 Splenogonadal fusion-limb defects-micrognathia syndrome108973, 139036, 183576, 294955, 404574Malformation syndrome
244283 Biliary atresia with splenic malformation syndrome108973, 498350, 506210Malformation syndrome
689829 Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome102283, 108973, 202948, 611327Disease
556955 Pancreatic agenesis-holoprosencephaly syndrome102283, 108973, 269531, 269564, 611327Disease
98043 Diaphragmatic or abdominal wall malformation165711, 93890Category
108977 Non-syndromic diaphragmatic or abdominal wall malformation98043Category
2140 Congenital diaphragmatic hernia101944, 108977, 180776Morphological anomaly
660 Omphalocele108977Morphological anomaly
695032 Giant omphalocele660Clinical subtype
695038 Small omphalocele660Clinical subtype
2368 Gastroschisis108977, 365563Morphological anomaly
490 Omphalomesenteric cyst108977Morphological anomaly
697986 Congenital peritoneal encapsulation108977Malformation syndrome
108979 Syndromic diaphragmatic or abdominal wall malformation98043Category
280 Wolf-Hirschhorn syndrome102283, 108979, 166469, 180779, 261884, 611327, 90642, 98642Malformation syndrome
199 Cornelia de Lange syndrome102283, 108979, 138055, 139021, 180779, 183570, 294955, 404574, 611327, 98578Malformation syndrome
287 Classical Ehlers-Danlos syndrome108979, 167762, 180779, 98249Disease
1335 Pentalogy of Cantrell102285, 108979, 180779, 330206Malformation syndrome
2059 Fryns syndrome102283, 108979, 611327Malformation syndrome
2141 Diaphragmatic defect-limb deficiency-skull defect syndrome102285, 108979, 180779, 330206Malformation syndrome
2143 Donnai-Barrow syndrome102283, 108979, 180779, 611327Malformation syndrome
2369 Limb body wall complex108979Malformation syndrome
2470 Matthew-Wood syndrome102283, 102285, 108979, 108993, 108995, 180779, 182108, 182111, 183622, 202948, 330206, 611327Malformation syndrome
2736 Lethal omphalocele-cleft palate syndrome102283, 108979, 139039, 611327Malformation syndrome
2847 Pericardial and diaphragmatic defect108979, 183530Malformation syndrome
3164 Omphalocele syndrome, Shprintzen-Goldberg type102283, 108979, 611327Malformation syndrome
209 Cutis laxa108979, 139027, 139030, 180779, 228215Clinical group
2078 Geroderma osteodysplastica209, 93446Malformation syndrome
2962 De Barsy syndrome102283, 207018, 209, 289866, 611327, 68385, 79389, 98628, 98644Disease
35664 ALDH18A1-related De Barsy syndrome2962Etiological subtype
293633 PYCR1-related De Barsy syndrome2962Etiological subtype
3342 Arterial tortuosity syndrome209, 285014Malformation syndrome
198 Occipital horn syndrome102283, 209, 309839, 611327Disease
90348 Autosomal dominant cutis laxa209Disease
90349 Autosomal recessive cutis laxa type 1209, 233655Disease
90350 Autosomal recessive cutis laxa type 2209, 289866, 93446Clinical group
357058 Autosomal recessive cutis laxa type 2A309778, 371071, 371195, 371200, 611314, 90350Disease
2834 Wrinkly skin syndrome357058Clinical subtype
357074 Autosomal recessive cutis laxa type 2, classic type357058Clinical subtype
357064 Autosomal recessive cutis laxa type 2B90350Disease
217335 RIN2 syndrome102283, 209, 611327Malformation syndrome
221145 Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies209Malformation syndrome
363705 Craniofaciofrontodigital syndrome102283, 209, 611327, 93453Disease
314718 Lethal arteriopathy syndrome due to fibulin-4 deficiency209, 233655Disease
96170 Emanuel syndrome108979, 180779, 263708Malformation syndrome
230839 Classical-like Ehlers-Danlos syndrome type 1108979, 167762, 180779, 98249Disease
280403 Familial omphalocele syndrome with facial dysmorphism108979, 183530Malformation syndrome
314432 Spigelian hernia-cryptorchidism syndrome108979Malformation syndrome
480528 Lethal hydranencephaly-diaphragmatic hernia syndrome108979, 180779, 269531, 269564, 459787, 471383Malformation syndrome
98044 Central nervous system malformation93890, 98006Category
108989 Non-syndromic central nervous system malformation98044Category
2185 Congenital hydrocephalus108989, 269550Malformation syndrome
269505 Congenital communicating hydrocephalus2185Clinical subtype
269510 Congenital non-communicating hydrocephalus2185Clinical subtype
3388 Neural tube defect108989, 269550Category
268357 Neural tube closure defect3388Category
823 Spina bifida and other spinal dysraphisms268357Category
268369 Open spinal dysraphism823Clinical group
645270 Open spinal dysraphism with a posterior meningocele268369, 268744Clinical group
645378 Myelic limited dorsal malformation645270, 645319Morphological anomaly
93969 Open spinal dysraphism with a myelomeningocele645270Morphological anomaly
645383 True myelomeningocele93969Clinical subtype
645388 Hemi-myelomeningocele93969Clinical subtype
645398 Myeloschisis268369Morphological anomaly
645401 True myeloschisis645398Clinical subtype
645393 Hemi-myeloschisis645398Clinical subtype
268744 Spinal dysraphism with a posterior meningocele823Clinical group
268810 Isolated posterior meningocele268744, 645202Morphological anomaly
268813 Myelocystocele268744, 645202Clinical group
645337 Terminal myelocystocele268813, 645319Morphological anomaly
645340 Non-terminal myelocystocele268813Morphological anomaly
645319 Saccular spinal dysraphism with a stalk to the dome268744, 645196Clinical group
645354 Saccular limited dorsal myeloschisis645319Morphological anomaly
645202 Closed spinal dysraphism823Clinical group
573278 Split cord malformation268843, 645202Clinical group
573253 Split cord malformation type II573278Morphological anomaly
1671 Split cord malformation type I573278Morphological anomaly
633076 Split cord malformation, composite type573278Morphological anomaly
656126 Segmental spinal dysgenesis268843, 645202Disease
645273 Dysraphic spinal cord lipoma645202, 645276Clinical group
645362 Dorsal spinal cord lipoma645273Morphological anomaly
645367 Conus spinal cord lipoma645273Clinical group
645285 Chaotic conus spinal cord lipoma645367Morphological anomaly
645297 Extramedullary conus spinal cord lipoma645367Morphological anomaly
645291 Transitional extramedullary conus spinal cord lipoma645297Clinical subtype
645288 Terminal extramedullary conus spinal cord lipoma645297Clinical subtype
645294 Posterior extramedullary conus spinal cord lipoma645297Clinical subtype
645193 Dysraphism with stalk645202Clinical group
645334 Retained medullary cord645193, 645282Morphological anomaly
645188 Spinal dermal sinus645193Morphological anomaly
645196 Limited dorsal myeloschisis645193Clinical group
645343 Non-saccular limited dorsal myeloschisis645196Morphological anomaly
645310 Fibroneural non-saccular limited dorsal myeloschisis645343Histopathological subtype
645300 Lipomatous non-saccular limited dorsal myeloschisis645343Histopathological subtype
645282 Anomaly of the filum268357Clinical group
645279 Fibrolipomatous filum anomaly645282Clinical group
645325 Isolated filum lipoma645279Morphological anomaly
645322 Isolated transitional filum lipoma645279Morphological anomaly
645276 Spinal cord lipoma268357Clinical group
645359 Intramedullary non-dysraphic spinal cord lipoma645276Morphological anomaly
268843 Malformation of the neurenteric canal, spinal cord and column3388Category
63260 Craniorachischisis268843Morphological anomaly
1048 Isolated anencephaly/exencephaly102283, 268843Morphological anomaly
563609 Isolated anencephaly1048Clinical subtype
563612 Isolated exencephaly1048Clinical subtype
63259 Iniencephaly268843Morphological anomaly
268363 Open iniencephaly63259Clinical subtype
268366 Closed iniencephaly63259Clinical subtype
268817 Cephalocele268843Clinical group
199647 Isolated encephalocele268817Morphological anomaly
268826 Parietal encephalocele199647Clinical subtype
268829 Basal encephalocele199647Clinical subtype
1931 Frontal encephalocele199647Clinical subtype
141118 Nasal encephalocele156246, 199647Clinical subtype
268823 Occipital encephalocele199647Clinical subtype
268820 Cranial meningocele268817Morphological anomaly
2789 Lateral meningocele syndrome268843Malformation syndrome
99856 Primary syringomyelia268843, 3280Morphological anomaly
99858 Idiopathic syringomyelia99856Clinical subtype
370034 Familial syringomyelia183515, 99856Clinical subtype
268861 Primary tethered cord syndrome268843Morphological anomaly
268865 Neurenteric cyst268843Morphological anomaly
268868 Isolated amyelia268843Morphological anomaly
268882 Arnold-Chiari malformation type I268843Morphological anomaly
397927 Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome268843Malformation syndrome
98518 Cranial nerve and nuclear aplasia108989, 269550Category
570 Moebius syndrome102283, 139036, 156224, 183576, 522520, 611327, 98518, 98683Disease
233 Duane retraction syndrome519341, 522506, 98518Malformation syndrome
306527 Isolated hereditary congenital facial paralysis156224, 98518Morphological anomaly
306530 Congenital hereditary facial paralysis-variable hearing loss syndrome156224, 98518Morphological anomaly
324353 Congenital achiasma98518Morphological anomaly
98519 Posterior fossa malformation108989Category
98523 Non-syndromic pontocerebellar hypoplasia166478, 269557, 98519Clinical group
2524 Pontocerebellar hypoplasia type 2207012, 98523Malformation syndrome
2254 Pontocerebellar hypoplasia type 1207012, 98523Malformation syndrome
97249 Pontocerebellar hypoplasia type 3441434, 98523Malformation syndrome
166063 Pontocerebellar hypoplasia type 498523Malformation syndrome
166073 Pontocerebellar hypoplasia type 635696, 98523Malformation syndrome
284339 Pontocerebellar hypoplasia type 7102283, 611327, 98523Malformation syndrome
324569 Pontocerebellar hypoplasia type 898523Malformation syndrome
369920 Pontocerebellar hypoplasia type 998523Malformation syndrome
411493 Pontocerebellar hypoplasia type 10102283, 611327, 98523Malformation syndrome
611256 Pontocerebellar hypoplasia type 121037, 98523Malformation syndrome
611247 Pontocerebellar hypoplasia type 11102283, 611327, 98523Malformation syndrome
613267 Pontocerebellar hypoplasia type 13102283, 611327, 98523Malformation syndrome
613274 Pontocerebellar hypoplasia type 14102283, 611327, 98523Malformation syndrome
182061 Cerebellar malformation98519Category
59315 Rhombencephalosynapsis182061Malformation syndrome
98514 Malformation of the cerebellar vermis182061Category
475 Isolated Joubert syndrome102283, 140874, 269560, 611327, 98514Malformation syndrome
199630 Isolated cerebellar vermis hypoplasia98514Morphological anomaly
269203 Isolated cerebellar vermis agenesis98514Morphological anomaly
269206 Isolated total cerebellar vermis agenesis269203Clinical subtype
269209 Isolated partial cerebellar vermis agenesis269203Clinical subtype
98516 Malformation of the cerebellar hemispheres182061Category
269218 Isolated unilateral hemispheric cerebellar hypoplasia98516Morphological anomaly
269221 Isolated bilateral hemispheric cerebellar hypoplasia98516Morphological anomaly
269224 Global cerebellar malformation182061Category
1397 Hydrocephaly-cerebellar agenesis syndrome269224, 269560, 522548Malformation syndrome
1398 Isolated cerebellar agenesis269224Morphological anomaly
269229 Pontine tegmental cap dysplasia98519Morphological anomaly
217 Isolated Dandy-Walker malformation269557, 98519Morphological anomaly
269212 Isolated Dandy-Walker malformation with hydrocephalus217Clinical subtype
269215 Isolated Dandy-Walker malformation without hydrocephalus217Clinical subtype
97252 Mega-cisterna magna98519Morphological anomaly
98922 Blake pouch cyst98519Morphological anomaly
199633 Non-syndromic cerebral malformation108989Category
1665 Sporadic fetal brain disruption sequence199633Malformation syndrome
2477 Isolated megalencephaly199633, 269553Malformation syndrome
99802 Hemimegalencephaly166478, 199633, 530313Malformation syndrome
163209 Non-syndromic cerebral malformation due to abnormal neuronal migration166478, 199633, 269553Category
2149 Nodular neuronal heterotopia102283, 163209, 611327Morphological anomaly
98892 Periventricular nodular heterotopia2149Clinical subtype
101029 Sub-cortical nodular heterotopia2149Clinical subtype
101030 Subependymal nodular heterotopia2149Clinical subtype
35981 Polymicrogyria102283, 163209, 611327Clinical group
268940 Bilateral polymicrogyria35981Morphological anomaly
98889 Bilateral perisylvian polymicrogyria268940Clinical subtype
101070 Bilateral frontoparietal polymicrogyria268940Clinical subtype
208441 Bilateral parasagittal parieto-occipital polymicrogyria268940Clinical subtype
208444 Bilateral frontal polymicrogyria268940Clinical subtype
208447 Bilateral generalized polymicrogyria268940Clinical subtype
268943 Unilateral polymicrogyria35981Morphological anomaly
101071 Unilateral hemispheric polymicrogyria268943Clinical subtype
268947 Unilateral focal polymicrogyria268943Clinical subtype
99796 Subcortical band heterotopia163209Morphological anomaly
268950 Cerebral cortical dysplasia163209Clinical group
65683 Isolated focal cortical dysplasia268950Disease
268961 Isolated focal cortical dysplasia type I65683Clinical subtype
268973 Isolated focal cortical dysplasia type Ia268961Histopathological subtype
268980 Isolated focal cortical dysplasia type Ib268961Histopathological subtype
268987 Isolated focal cortical dysplasia type Ic268961Histopathological subtype
268994 Isolated focal cortical dysplasia type II65683Clinical subtype
269001 Isolated focal cortical dysplasia type IIa268994Histopathological subtype
269008 Isolated focal cortical dysplasia type IIb268994Histopathological subtype
280640 Occipital pachygyria and polymicrogyria163209Malformation syndrome
300570 Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation102283, 163209, 611327Disease
329329 Autosomal recessive frontotemporal pachygyria163209Malformation syndrome
2798 Pachygyria-intellectual disability-epilepsy syndrome102283, 163209, 611327Malformation syndrome
199642 Isolated congenital microcephaly199633, 269553Malformation syndrome
2512 Autosomal recessive primary microcephaly102283, 199642, 519343, 522508, 611327Etiological subtype
2514 Autosomal dominant primary microcephaly102283, 199642, 611327Etiological subtype
268926 Midline cerebral malformation199633, 269553Category
2162 Holoprosencephaly102283, 166478, 268926, 611327, 95495Malformation syndrome
93924 Lobar holoprosencephaly2162Clinical subtype
93925 Alobar holoprosencephaly2162Clinical subtype
93926 Midline interhemispheric variant of holoprosencephaly2162Clinical subtype
220386 Semilobar holoprosencephaly2162Clinical subtype
280195 Septopreoptic holoprosencephaly2162Clinical subtype
1126 Aprosencephaly cerebellar dysgenesis268926Malformation syndrome
314621 Duplication of the pituitary gland181384, 268926Morphological anomaly
280200 Microform holoprosencephaly268926Malformation syndrome
566847 Aprosencephaly/atelencephaly spectrum268926, 459787Morphological anomaly
566852 Atelencephaly566847Clinical subtype
566857 Aprosencephaly566847Clinical subtype
268936 Isolated arhinencephaly199633Morphological anomaly
269190 Encephaloclastic disorder199633, 269553Clinical group
799 Schizencephaly166478, 269190, 98683Disease
485275 Acquired schizencephaly799Etiological subtype
481986 Familial schizencephaly477765, 799Etiological subtype
2177 Hydranencephaly269190Malformation syndrome
2940 Porencephaly166478, 269190Disease
99810 Familial porencephaly2940, 477765Etiological subtype
314697 Acquired porencephaly2940Etiological subtype
319192 Diencephalic-mesencephalic junction dysplasia199633, 269553Morphological anomaly
200 Isolated corpus callosum agenesis199633Morphological anomaly
269194 Central nervous system cystic malformation108989Category
2356 Arachnoid cyst269194, 269550, 95505Morphological anomaly
269197 Glioependymal/ependymal cyst269194Morphological anomaly
530033 Dermoid or epidermoid cyst of the central nervous system269194, 269550Morphological anomaly
108991 Syndrome with a central nervous system malformation as a major feature98044Category
48471 Lissencephaly102283, 108991, 166478, 269564, 611327Category
1083 Microlissencephaly199639, 269573, 48471Morphological anomaly
89844 Lissencephaly syndrome, Norman-Roberts type1083Clinical subtype
51577 Cobblestone lissencephaly48471Clinical group
352682 Cobblestone lissencephaly without muscular or ocular involvement51577Disease
352687 Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies370953, 51577Clinical group
272 Congenital muscular dystrophy, Fukuyama type207122, 309469, 352687, 371071, 371235, 522520, 98638, 98644, 98683Malformation syndrome
899 Walker-Warburg syndrome207119, 207122, 209024, 209030, 209033, 309469, 352687, 371071, 371235, 716446Disease
588 Muscle-eye-brain disease207119, 207122, 209024, 209033, 309469, 352687, 371071, 371235, 522520, 98638, 98644, 98683Malformation syndrome
370997 Muscle-eye-brain disease with bilateral multicystic leucodystrophy352687, 371040Disease
86823 Lissencephaly with cerebellar hypoplasia48471Clinical group
100011 Lissencephaly with cerebellar hypoplasia type A86823Malformation syndrome
100012 Lissencephaly with cerebellar hypoplasia type B86823Malformation syndrome
100013 Lissencephaly with cerebellar hypoplasia type C86823Malformation syndrome
100014 Lissencephaly with cerebellar hypoplasia type D86823Malformation syndrome
100015 Lissencephaly with cerebellar hypoplasia type E86823Malformation syndrome
100016 Lissencephaly with cerebellar hypoplasia type F86823Malformation syndrome
102009 Classic lissencephaly48471Clinical group
572013 Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome102009Malformation syndrome
2148 Lissencephaly type 1 due to doublecortin gene mutation102009Disease
531 Miller-Dieker syndrome102009, 166469, 261965Malformation syndrome
1084 Isolated lissencephaly type 1 without known genetic defects102009Disease
95232 Lissencephaly due to LIS1 mutation102009Disease
102010 Other syndrome with lissencephaly as a major feature48471Category
2510 Micro syndrome102010, 199639, 202948, 269528, 269573, 522548, 98641Malformation syndrome
2995 Baraitser-Winter cerebrofrontofacial syndrome102010, 98578Malformation syndrome
452 X-linked lissencephaly with abnormal genitalia102010, 423655, 98087Malformation syndrome
102011 Lissencephaly type 348471Clinical group
2671 Neu-Laxova syndrome102011, 281238, 281241, 35705, 98563Malformation syndrome
583607 Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency2671Etiological subtype
583612 Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency2671Etiological subtype
583602 Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency2671Etiological subtype
86821 Lissencephaly type 3-familial fetal akinesia sequence syndrome102011Malformation syndrome
86822 Lissencephaly type 3-metacarpal bone dysplasia syndrome102011Malformation syndrome
171680 Lissencephaly due to TUBA1A mutation48471Malformation syndrome
199639 Syndrome with corpus callosum agenesis/dysgenesis as a major feature108991Category
83473 Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome102283, 199639, 269573, 611327Malformation syndrome
50 Aicardi syndrome166478, 183422, 199639, 269573, 611314, 716299Disease
1496 Corpus callosum agenesis-neuronopathy syndrome102283, 199639, 207012, 269573, 611327Disease
1495 Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome102283, 199639, 269573, 611327Malformation syndrome
1777 Temtamy syndrome102283, 199639, 269573, 611327Malformation syndrome
3338 Toriello-Carey syndrome102283, 139039, 199639, 269573, 611327Malformation syndrome
3207 White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome102283, 199639, 611327Malformation syndrome
52055 Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome102283, 199639, 269573, 519276, 519345, 611327Malformation syndrome
171703 Microcephaly-polymicrogyria-corpus callosum agenesis syndrome102283, 199639, 269573, 611327Malformation syndrome
275543 L1 syndrome199639, 269573, 611314Malformation syndrome
2182 Hydrocephalus with stenosis of the aqueduct of Sylvius275543Clinical subtype
2466 MASA syndrome275543, 98888Clinical subtype
1497 X-linked complicated corpus callosum dysgenesis275543Clinical subtype
306617 X-linked complicated spastic paraplegia type 1275543Clinical subtype
423655 ARX-related encephalopathy-brain malformation spectrum102283, 165707, 182079, 199639, 269573, 611327Clinical group
2508 Corpus callosum agenesis-abnormal genitalia syndrome423655Malformation syndrome
459074 Corpus callosum agenesis-macrocephaly-hypertelorism syndrome102283, 199639, 269573, 611327Malformation syndrome
466688 Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome102283, 199639, 269523, 269567, 269573, 611327Malformation syndrome
457284 Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome102283, 199639, 269567, 611327Malformation syndrome
467166 Tubulinopathy-associated dysgyria199639, 269523, 269567, 269573Disease
694937 Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency102283, 199639, 207025, 269573, 611327Malformation syndrome
500159 Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom102283, 199639, 611327Malformation syndrome
447893 Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome199639, 269573, 289494Clinical subtype
269523 Syndrome with a cerebellar malformation as a major feature108991Category
459070 X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome102283, 253, 269523, 269567, 611327Malformation syndrome
468699 SLC39A8-CDG102283, 269523, 269567, 309347, 309851, 611327Disease
314597 Chudley-McCullough syndrome269523, 269531, 269567, 90642Malformation syndrome
443162 NDE1-related microhydranencephaly269523, 269528, 269531, 269567Malformation syndrome
2318 Joubert syndrome with oculorenal defect102283, 140874, 156162, 269523, 269567, 506213, 611327, 716405, 93587Malformation syndrome
1454 Joubert syndrome with hepatic defect101939, 102283, 140874, 156162, 156165, 156604, 269523, 269567, 611327Disease
1532 Gómez-López-Hernández syndrome102283, 269523Malformation syndrome
2246 Cerebellar hypoplasia-tapetoretinal degeneration syndrome269523, 716405Malformation syndrome
2754 Orofaciodigital syndrome type 6102283, 140874, 140997, 269523, 269567, 611327, 90642Malformation syndrome
2941 Porencephaly-cerebellar hypoplasia-internal malformations syndrome269523Malformation syndrome
3322 Hoyeraal-Hreidarsson syndrome269523, 269567, 331217, 611314, 68383Disease
3469 XK aprosencephaly syndrome269523Malformation syndrome
65285 Lhermitte-Duclos disease251934, 269523, 269567, 306498Clinical subtype
65288 Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome224, 269523, 269567Malformation syndrome
85186 Endosteal sclerosis-cerebellar hypoplasia syndrome269523, 269567, 93444Malformation syndrome
137831 X-linked intellectual disability-cerebellar hypoplasia syndrome102283, 166478, 269523, 269567, 611327Disease
163937 X-linked intellectual disability, Najm type102283, 269523, 269567, 522548, 611327, 98641Disease
163961 X-linked cerebral-cerebellar-coloboma syndrome102283, 269523, 269567, 611327Disease
220493 Joubert syndrome with ocular defect102283, 140874, 156165, 269523, 269567, 611327, 716405Malformation syndrome
220497 Joubert syndrome with renal defect102283, 140874, 156162, 156180, 269523, 269567, 506213, 611327, 93587Malformation syndrome
269546 Syndrome with a Dandy-Walker malformation as a major feature269523Category
7 3C syndrome102283, 269546, 269570, 611327Malformation syndrome
916 Aase-Smith syndrome type 1102285, 139039, 269546, 269570, 330206Malformation syndrome
1568 X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome102283, 269546, 269567, 522520, 611327, 98683Malformation syndrome
1970 Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome102283, 269546, 269570, 611327Malformation syndrome
2218 Cervical hypertrichosis-peripheral neuropathy syndrome269546, 269570, 79365Disease
2427 Macrocephaly-short stature-paraplegia syndrome102283, 269546, 611327Malformation syndrome
73245 Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome207012, 269546Malformation syndrome
79332 B4GALT1-CDG269546, 269570, 309526, 371047, 371157, 371235Disease
1566 Dandy-Walker malformation-postaxial polydactyly syndrome269546, 269570, 294959Malformation syndrome
370022 Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome269523, 269567, 611314, 98688Disease
397709 Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome102283, 269523, 269567, 611327Malformation syndrome
401959 Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome166478, 269523, 269567Malformation syndrome
444072 Cerebellar-facial-dental syndrome102283, 164001, 269523, 269567, 420755, 611327Malformation syndrome
300573 Polymicrogyria due to TUBB2B mutation102283, 269523, 269531, 269567, 611327Malformation syndrome
480898 Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome102283, 269523, 269567, 519343, 522508, 611327Disease
495875 Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome102283, 165707, 269523, 269567, 611327, 98628Malformation syndrome
529665 Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome102283, 269523, 269567, 611327Malformation syndrome
2703 Port-wine nevi-mega cisterna magna-hydrocephalus syndrome102285, 269523, 269567, 330206, 458830Malformation syndrome
611223 EN1-related dorsoventral syndrome269523, 269567, 93438Malformation syndrome
615954 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome269523, 459787, 471383Clinical syndrome
615983 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation615954Etiological subtype
615986 Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster261857, 615954Etiological subtype
693549 Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome102283, 269523, 611327Malformation syndrome
269528 Syndrome with microcephaly as a major feature108991, 269564Category
572333 Blepharophimosis-ptosis-epicanthus inversus syndrome plus102283, 262019, 269528, 611327, 98575, 98578Malformation syndrome
481152 PYCR2-related microcephaly-progressive leukoencephalopathy102283, 269528, 611327Malformation syndrome
3433 Microcephaly-brachydactyly-kyphoscoliosis syndrome102283, 269528, 498454, 522548, 611327, 98641Malformation syndrome
1270 Bowen-Conradi syndrome102283, 269528, 611327Malformation syndrome
2522 Microcephaly-cervical spine fusion anomalies syndrome102283, 269528, 611327Malformation syndrome
2523 Microcephaly-brain defect-spasticity-hypernatremia syndrome102283, 269528, 611327Malformation syndrome
2526 Microcephaly-lymphedema-chorioretinopathy syndrome2416, 269528, 611314, 716342Malformation syndrome
2528 Microcephaly-microcornea syndrome, Seemanova type102283, 269528, 522548, 611327, 98641Malformation syndrome
99742 Amish lethal microcephaly269528, 298644Malformation syndrome
293967 Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome181387, 269528, 90642Malformation syndrome
294016 Microcephaly-capillary malformation syndrome211247, 269528, 458830Malformation syndrome
306558 Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome166478, 181381, 183625, 269528Disease
313795 Jawad syndrome102283, 269528, 611327Malformation syndrome
324761 Microcephalic primordial dwarfism102283, 269528, 611327Clinical group
808 Seckel syndrome324761, 93440Malformation syndrome
2554 Ear-patella-short stature syndrome139036, 183576, 324761, 93440, 93455Malformation syndrome
2643 Microcephalic primordial dwarfism, Toriello type324761, 522548, 93440, 98641Malformation syndrome
2636 Microcephalic osteodysplastic primordial dwarfism types I and III324761, 93440, 98638Malformation syndrome
2637 Microcephalic osteodysplastic primordial dwarfism type II240371, 324761, 477771, 93440Malformation syndrome
85172 Microcephalic osteodysplastic dysplasia, Saul-Wilson type324761, 522548, 93440, 98641Disease
319671 Alazami syndrome324761Malformation syndrome
319675 Microcephalic primordial dwarfism, Dauber type324761Malformation syndrome
329228 Microcephalic primordial dwarfism due to ZNF335 deficiency324761Malformation syndrome
468631 Microcephalic cortical malformations-short stature due to RTTN deficiency324761Malformation syndrome
658595 DNMT3A-related microcephalic dwarfism324761Malformation syndrome
572761 DONSON-related microcephaly-short stature-limb abnormalities spectrum139021, 183570, 324761, 93440Malformation syndrome
572768 Microcephaly-micromelia syndrome572761Clinical subtype
572773 Microcephaly-short stature-limb abnormalities syndrome572761Clinical subtype
329332 Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome102283, 269528, 611327Malformation syndrome
391408 Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome102283, 181376, 183625, 269528, 611327Disease
402364 Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly269528Malformation syndrome
404437 Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome166478, 269528Malformation syndrome
434179 Orofaciodigital syndrome type 14102283, 140997, 269528, 611327Malformation syndrome
477814 Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome269528, 331217, 519343, 522508, 611314Malformation syndrome
662762 Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome102283, 269528, 611327Malformation syndrome
662179 Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome102283, 269528, 611327, 90642Malformation syndrome
664923 Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome102283, 1037, 269528, 611327Malformation syndrome
659642 Rauch-Steindl syndrome102283, 139021, 183570, 269528, 611327Malformation syndrome
684240 Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome166472, 269528, 494457, 496916, 611314Malformation syndrome
699844 Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome102283, 269528, 611327Malformation syndrome
633035 Intellectual disability-early-onset cataract-microcephaly syndrome102283, 269528, 611327, 98641Malformation syndrome
269531 Other syndrome with a central nervous system malformation as a major feature108991Category
529574 Duane retraction syndrome with congenital deafness269531, 269564, 519341, 522506, 90642Malformation syndrome
2744 Horizontal gaze palsy with progressive scoliosis269531, 269564, 522520, 93454, 98683Disease
3176 Spina bifida-hypospadias syndrome165707, 269531Malformation syndrome
1647 Oculocerebrocutaneous syndrome166478, 202948, 269531Malformation syndrome
2065 Galloway-Mowat syndrome102283, 269531, 567562, 611327Malformation syndrome
2184 Hydrocephaly-low insertion umbilicus syndrome269531, 269564Malformation syndrome
2165 Holoprosencephaly-caudal dysgenesis syndrome269531Malformation syndrome
2189 Hydrolethalus139039, 269531, 269564, 363250Malformation syndrome
2351 Kousseff syndrome269531Malformation syndrome
2570 Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome269531, 459787, 471383Malformation syndrome
3157 Septo-optic dysplasia spectrum137905, 269531, 269564, 441434, 611314, 95495Malformation syndrome
63862 Schisis association269531Malformation syndrome
66625 Cerebrooculonasal syndrome102283, 269531, 269564, 611327Malformation syndrome
210548 Macrocephaly-intellectual disability-autism syndrome102283, 180772, 269531, 269564, 611327Disease
221126 Fowler vasculopathy269531, 269564Malformation syndrome
247198 Progressive cerebello-cerebral atrophy269531, 269564Disease
250972 Polymicrogyria with optic nerve hypoplasia102283, 137905, 166478, 269531, 269564, 611327Malformation syndrome
251383 CK syndrome269531, 269564, 611314, 79195Malformation syndrome
306547 Porencephaly-microcephaly-bilateral congenital cataract syndrome269531, 269564Malformation syndrome
314993 Cataract-congenital heart disease-neural tube defect syndrome269531, 269564, 522548, 98641Malformation syndrome
356961 SLC35A2-CDG269531, 269564, 309526, 371071, 371235, 611314Disease
443988 Ventriculomegaly-cystic kidney disease269531, 506213, 93587Disease
2117 Hartsfield syndrome102283, 139039, 269531, 269564, 498477, 611327Malformation syndrome
500144 Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome102283, 269531, 269564, 611327, 90642Malformation syndrome
500150 ZTTK syndrome102283, 269531, 269564, 611327Malformation syndrome
1861 Thoracic dysplasia-hydrocephalus syndrome182108, 269531, 269564, 93426Malformation syndrome
544469 PRUNE1-related neurological syndrome102283, 269531, 269564, 611327Malformation syndrome
610569 KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome102283, 1037, 269531, 269564, 611327Disease
664410 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome102283, 269531, 611327Malformation syndrome
228384 5q14.3 microdeletion syndrome166469, 262038, 664410Etiological subtype
664416 Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation664410Etiological subtype
662189 Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome102283, 269531, 611327Malformation syndrome
662207 Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome102283, 269531, 611327Malformation syndrome
659609 Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome102283, 269531, 611327Malformation syndrome
603448 Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome102283, 269531, 269564, 611327Malformation syndrome
98045 Respiratory or mediastinal malformation93890Category
108993 Non-syndromic respiratory or mediastinal malformation183554, 97962, 98045Category
2414 Congenital pulmonary lymphangiectasia108993, 182111, 264683, 264992Disease
2444 Congenital pulmonary airway malformation108993, 182111Malformation syndrome
280827 Congenital pulmonary airway malformation type 02444Clinical subtype
280832 Congenital pulmonary airway malformation type 12444Clinical subtype
280840 Congenital pulmonary airway malformation type 22444Clinical subtype
280847 Congenital pulmonary airway malformation type 32444Clinical subtype
280854 Congenital pulmonary airway malformation type 42444Clinical subtype
3346 Tracheal agenesis108993, 156252, 182111Morphological anomaly
984 Pulmonary agenesis108993, 182111Morphological anomaly
1928 Congenital lobar emphysema108993, 182111, 183622Morphological anomaly
2257 Primary pulmonary hypoplasia108993, 182111, 183622Morphological anomaly
2038 Pulmonary arteriovenous malformation101944, 108993, 182111, 693855Morphological anomaly
3161 Congenital pulmonary sequestration108993, 182111Malformation syndrome
280802 Intralobar congenital pulmonary sequestration3161Clinical subtype
280811 Extralobar congenital pulmonary sequestration3161Clinical subtype
280821 Communicating congenital bronchopulmonary-foregut malformation3161Clinical subtype
70589 Bronchopulmonary dysplasia108993, 182111Malformation syndrome
95430 Congenital tracheomalacia108993, 156252, 182111, 435612Morphological anomaly
411501 Williams-Campbell syndrome108993, 182111Morphological anomaly
700286 Congenital high airway obstruction syndrome108993, 182111Clinical syndrome
649014 Bronchial malformation108993, 182111Clinical group
648992 Non-syndromic bridging bronchus649014Morphological anomaly
649010 Non-syndromic congenital bronchial atresia649014Morphological anomaly
649029 Isolated left bronchial isomerism649014Morphological anomaly
2357 Bronchogenic cyst649014Morphological anomaly
108995 Syndromic respiratory or mediastinal malformation97962, 98045Category
994 Fetal akinesia deformation sequence102285, 1037, 108993, 108995, 182108, 330206Malformation syndrome
1120 Lung agenesis-heart defect-thumb anomalies syndrome108993, 108995, 182111, 183622Malformation syndrome
1486 Lethal congenital contracture syndrome type 1102285, 108993, 108995, 182108, 294965, 330206Malformation syndrome
2407 Laryngo-onycho-cutaneous syndrome108993, 108995, 182111, 183622, 305, 522542, 98027, 98610Disease
3035 Growth delay-hydrocephaly-lung hypoplasia syndrome108995, 182111, 183622Malformation syndrome
98196 Malformation syndrome with hamartosis183530, 93890Category
892 Von Hippel-Lindau disease100091, 100094, 156162, 183503, 252190, 319328, 71281, 93587, 98196, 98638Disease
377 Gorlin syndrome140162, 183487, 252190, 79386, 98027, 98196Malformation syndrome
2869 Peutz-Jeghers syndrome104010, 183422, 183466, 271835, 363314, 589746, 79375, 98196Disease
774 Hereditary hemorrhagic telangiectasia101938, 102006, 139027, 182111, 182222, 183478, 183622, 211266, 371436, 459526, 79379, 98196, 98610Disease
1775 Dyskeratosis congenita140162, 183466, 222628, 331217, 519274, 611314, 68383, 79373, 79375, 98196Disease
2612 Linear nevus sebaceus syndrome294057, 622914, 98196Disease
3205 Sturge-Weber syndrome102006, 156237, 166466, 166487, 211247, 458830, 611314, 693802, 716459, 717348, 79379, 93460, 98196, 98638Malformation syndrome
805 Tuberous sclerosis complex156162, 166466, 180772, 183422, 183481, 183487, 252190, 319328, 506213, 568047, 611314, 79380, 79386, 93587, 98196Disease
1062 Hereditary neurocutaneous malformation102006, 166487, 371436, 459543, 673470, 98196Disease
2092 Focal dermal hypoplasia102283, 183481, 519292, 522554, 611327, 79373, 79380, 98196, 98655Malformation syndrome
296 Ollier disease140162, 183527, 68411, 93450, 93460, 98196Disease
2874 Phakomatosis pigmentokeratotica294057, 622914, 98196Malformation syndrome
2875 Phakomatosis pigmentovascularis183466, 211247, 79375, 98196, 98638Disease
79483 Phakomatosis cesioflammea2875Clinical subtype
79484 Phakomatosis cesiomarmorata2875Clinical subtype
79485 Phakomatosis spilorosea2875Clinical subtype
64755 Becker nevus syndrome180173, 294057, 622914, 98196Disease
93921 Full schwannomatosis183466, 506213, 634518, 79375, 98196Disease
163634 Maffucci syndrome140162, 183478, 183527, 211252, 459537, 68411, 79379, 93450, 93460, 98196Disease
276280 Hemihyperplasia-multiple lipomatosis syndrome156237, 183487, 458830, 530313, 79386, 98196Malformation syndrome
306498 PTEN hamartoma tumor syndrome183422, 183487, 79386, 98196Disease
201 Cowden syndrome104010, 271835, 294057, 306498, 589746, 622914Clinical subtype
109 Bannayan-Riley-Ruvalcaba syndrome102283, 104010, 211277, 306498, 363314, 459537, 611327, 93460Clinical subtype
2969 Proteus-like syndrome294057, 306498, 519286, 522548, 522568, 622914, 98641Clinical subtype
137608 Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome211277, 294057, 306498, 459537, 622914, 93460Clinical subtype
90308 Capillary-lymphatic-venous malformation with segmental distribution183478, 211252, 459537, 715460, 79379, 98196Disease
98553 Developmental defect of the eye93890Category
83461 Congenital primary aphakia183557, 183607, 98553, 98639Malformation syndrome
137905 Syndromic optic nerve hypoplasia183557, 519351, 522512, 98553Category
603494 Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome137905, 202948, 2781, 284811, 90642Malformation syndrome
519333 Congenital optic disc excavation519351, 98553Category
519400 Peripapillary staphyloma519333Morphological anomaly
519404 Optic disc pit519333Morphological anomaly
98947 Coloboma of optic disc519333, 522514Morphological anomaly
464760 Familial cavitary optic disc anomaly519333, 522514Morphological anomaly
35737 Morning glory disc anomaly519333, 522514, 522520, 98683Morphological anomaly
519402 Isolated megalopapilla519333Morphological anomaly
519345 Rare disorder with optic disc malformation183557, 519351, 522512, 98553Category
324737 SRD5A3-CDG309526, 371047, 371200, 519345, 611314Disease
435930 Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome519345Disease
98560 Rare palpebral disorder519266, 98553Category
98561 Congenital malformation of the eyelid522526, 98560Category
98562 Cryptophthalmia98561Category
91396 Isolated cryptophthalmia98562Morphological anomaly
98948 Congenital symblepharon91396Clinical subtype
98949 Complete cryptophthalmia91396Clinical subtype
98950 Partial cryptophthalmia91396Clinical subtype
98563 Microblepharon-ablephara syndrome98561Clinical group
920 Ablepharon macrostomia syndrome102283, 139039, 611327, 98563Malformation syndrome
98564 Eyelid border anomaly98561Category
91397 Isolated ankyloblepharon filiforme adnatum156237, 98564Morphological anomaly
98565 Syndromic ankyloblepharon filiforme adnatum98564Category
294963 Popliteal pterygium syndrome109007, 156237, 98565Clinical group
1234 Bartsocas-Papas syndrome294963, 459787, 471383, 79373, 98566Malformation syndrome
1300 Autosomal dominant popliteal pterygium syndrome102283, 294963, 611327Malformation syndrome
1071 Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome156237, 294955, 404574, 79373, 98565Malformation syndrome
1072 Ankyloblepharon filiforme adnatum-cleft palate syndrome1071Clinical subtype
1074 Ankyloblepharon filiforme adnatum-imperforate anus syndrome1071Clinical subtype
1791 Frontofacionasal dysplasia102285, 139036, 141234, 183576, 250, 330206, 98565, 98566Malformation syndrome
85275 Microphthalmia-ankyloblepharon-intellectual disability syndrome102283, 202948, 611327, 98565Malformation syndrome
98566 Syndromic eyelid coloboma98564Category
861 Treacher-Collins syndrome102285, 138050, 139036, 155899, 183576, 330206, 522520, 90642, 98566, 98576, 98578, 98683Malformation syndrome
245 Nager syndrome102285, 138050, 139036, 183576, 330206, 364574, 98566, 98576Malformation syndrome
246 Postaxial acrofacial dysostosis102285, 139036, 156237, 183576, 330206, 364574, 98566, 98571Malformation syndrome
2399 Nasopalpebral lipoma-coloboma syndrome102285, 330206, 98566Malformation syndrome
2717 Oculotrichoanal syndrome102285, 330206, 98566Malformation syndrome
98946 Coloboma of eyelid98564Morphological anomaly
99176 Congenital eyelid retraction98561Morphological anomaly
98567 Rare eyelid malposition disorder98560Category
98578 Rare disorder with ptosis522528, 98567Category
596 X-linked centronuclear myopathy207110, 595, 611314, 98578Disease
2308 Jacobsen syndrome262092, 331220, 477794, 98578Malformation syndrome
606 Proximal myotonic myopathy181441, 206647, 522548, 98578, 98641Disease
270 Oculopharyngeal muscular dystrophy206644, 519347, 522522, 98578Disease
1876 Oculogastrointestinal muscular dystrophy104009, 519347, 522522, 98578Disease
127 Borjeson-Forssman-Lehmann syndrome102283, 166472, 240371, 611327, 98578Malformation syndrome
1323 Camptodactyly-joint contractures-facial skeletal defects syndrome102285, 330206, 364568, 98578Malformation syndrome
2057 Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome102285, 330206, 522520, 98578, 98683Malformation syndrome
2980 Acrootoocular syndrome519339, 98578Malformation syndrome
2997 Ptosis-vocal cord paralysis syndrome98578Malformation syndrome
2999 Ptosis-strabismus-ectopic pupils syndrome519286, 522520, 522568, 98578, 98683Malformation syndrome
663 Mitochondrial DNA-related progressive external ophthalmoplegia206966, 254767, 520820, 68385, 98578Disease
298 Mitochondrial neurogastrointestinal encephalomyopathy104013, 206966, 225700, 225703, 352456, 519347, 522522, 611314, 79193, 98578Disease
590 Congenital myasthenic syndrome519347, 522522, 98495, 98578Disease
716913 Ubiquitously expressed proteins associated congenital myasthenic syndrome590Etiological subtype
353327 Congenital myasthenic syndrome with glycosylation defect309347, 371047, 716913Etiological subtype
716917 Congenital myasthenic syndrome with mitochondrial defect716913Etiological subtype
98913 Postsynaptic congenital myasthenic syndrome590, 98738Etiological subtype
716742 Congenital myasthenic syndrome with kinetic defect98913Etiological subtype
716758 Fast-channel congenital myasthenic syndrome716742Etiological subtype
716765 Slow-channel congenital myasthenic syndrome716742Etiological subtype
716772 Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance716742Etiological subtype
716816 Congenital myasthenic syndrome with primary acetylcholine receptor deficiency98913Etiological subtype
716881 Congenital myasthenic syndrome due to a sodium channel 1.4 defect98913Etiological subtype
716825 Congenital myasthenic syndrome due to defects in endplate development and maintenance98913Etiological subtype
98914 Presynaptic congenital myasthenic syndromes590, 611314Etiological subtype
716899 Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis98914Etiological subtype
716908 Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis716899Etiological subtype
716903 Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis716899Etiological subtype
716889 Congenital myasthenic syndromes due to defective axonal transport98914Etiological subtype
716893 Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine98914Etiological subtype
98915 Synaptic congenital myasthenic syndrome590Etiological subtype
230 Dopamine beta-hydroxylase deficiency182058, 309830, 448426, 68385, 98578Disease
45358 Congenital fibrosis of extraocular muscles206644, 522520, 98578, 98683Disease
46627 Char syndrome102283, 611327, 98578Malformation syndrome
91412 Marcus-Gunn syndrome98578Disease
98951 Inverse Marcus-Gunn phenomenon91412Clinical subtype
101104 Marin-Amat syndrome91412Clinical subtype
91413 Congenital Horner syndrome519286, 522568, 98578Disease
98897 Oculopharyngodistal myopathy206644, 206650, 206653, 519347, 522522, 98578Disease
228396 Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome519274, 98578Malformation syndrome
126 Blepharophimosis-ptosis-epicanthus inversus syndrome98575, 98578Malformation syndrome
572354 Blepharophimosis-ptosis-epicanthus inversus syndrome type 1126, 399853, 400022, 485382, 95710Clinical subtype
572361 Blepharophimosis-ptosis-epicanthus inversus syndrome type 2126Clinical subtype
293642 Blepharophimosis-intellectual disability syndrome102283, 611327, 98578Clinical group
637013 SMARCA2-related blepharophimosis-intellectual disability syndrome293642Malformation syndrome
1620 Distal deletion 3p syndrome261875, 293642Malformation syndrome
2728 Blepharophimosis-intellectual disability syndrome, Ohdo type293642Malformation syndrome
3047 Blepharophimosis-intellectual disability syndrome, SBBYS type177107, 293642, 597749Malformation syndrome
293707 Blepharophimosis-intellectual disability syndrome, MKB type293642Malformation syndrome
293725 Blepharophimosis-intellectual disability syndrome, Verloes type293642Malformation syndrome
700160 ADNP-related blepharophimosis-intellectual disability syndrome293642Disease
91411 Congenital ptosis98578Disease
502430 Weiss-Kruszka Syndrome102283, 611327, 98578Malformation syndrome
99169 Epiblepharon522528, 98567Morphological anomaly
99172 Euryblepharon522528, 98567Morphological anomaly
519268 Rare disorder with ectropion522528, 98567Category
98570 Congenital ectropion519268Category
1997 Blepharo-cheilo-odontic syndrome102285, 139039, 139042, 183580, 330206, 79373, 98570Malformation syndrome
99171 Isolated congenital ectropion98570Morphological anomaly
357158 Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome139036, 155899, 183576, 98570Disease
98571 Secondary ectropion519268Category
1231 Barber-Say syndrome102285, 330206, 79365, 79373, 98571Malformation syndrome
2269 Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome281238, 611314, 79373, 98571Disease
910 Xeroderma pigmentosum139027, 139033, 183422, 183490, 363245, 519270, 522530, 522548, 611314, 79390, 98097, 98571, 98641Disease
90342 Xeroderma pigmentosum variant139027, 139033, 183422, 183490, 363245, 519270, 522530, 79390, 98571Disease
220295 Xeroderma pigmentosum-Cockayne syndrome complex139027, 139033, 183422, 183490, 363245, 519270, 522530, 611314, 716405, 79389, 79390, 90642, 98097, 98571Disease
281097 Autosomal recessive congenital ichthyosis281082, 98571Clinical group
281127 Acral self-healing collodion baby281097Disease
281122 Self-improving collodion baby281097Disease
457 Harlequin ichthyosis281097Disease
79394 Congenital ichthyosiform erythroderma281097Disease
100976 Bathing suit ichthyosis281097Disease
313 Lamellar ichthyosis281097Disease
289586 Exfoliative ichthyosis250811, 281097Disease
519270 Rare disorder with entropion98567Category
99170 Tarsal kink syndrome519270, 522530Morphological anomaly
519386 Isolated congenital entropion519270Morphological anomaly
519390 Isolated blepharochalasis98567Disease
1253 Ascher syndrome102285, 139027, 330206, 522528, 98567Malformation syndrome
46486 Mucous membrane pemphigoid79669, 98567Disease
98574 Syndromic epicanthus522528, 98567Category
1705 Distal duplication 14q syndrome262941, 98574Malformation syndrome
281 Monosomy 5p syndrome261893, 98574, 98642Malformation syndrome
1587 Monosomy 13q14 syndrome262101, 98574, 98642Malformation syndrome
559 Marinesco-Sjögren syndrome207028, 522520, 522548, 611314, 98098, 98574, 98641, 98683Disease
48431 Congenital cataracts-facial dysmorphism-neuropathy syndrome102283, 140459, 207028, 522548, 611327, 98098, 98574, 98641Malformation syndrome
98575 Syndromic telecanthus522528, 98567Category
894 Waardenburg syndrome type 13440, 98575Clinical subtype
896 Waardenburg syndrome type 33440, 98575Clinical subtype
2707 Oculocerebrofacial syndrome, Kaufman type102283, 611327, 98575Malformation syndrome
98576 Syndromic outer canthal malposition522528, 98567Category
98594 Rare eyebrow/eyelash disorder183557, 519266, 522524, 98553Category
33001 Lymphedema-distichiasis syndrome289825, 522548, 98594, 98641Malformation syndrome
99177 Isolated distichiasis98594Morphological anomaly
98605 Lacrimal drainage system anomaly98553, 98602Category
141083 Nasolacrimal duct cyst156246, 98605Morphological anomaly
451612 Familial congenital nasolacrimal duct obstruction156246, 435606, 522534, 98605Morphological anomaly
519274 Syndromic lacrimal system disorder522534, 98605Category
98606 Syndromic orbital border hypoplasia519274Malformation syndrome
519272 Structural developmental eye defect520814, 98553Category
2484 Melnick-Needles syndrome102285, 330206, 364541, 519272, 519296, 522536Malformation syndrome
98555 Microphthalmia-anophthalmia-coloboma519272, 522536Category
2542 Isolated microphthalmia-anophthalmia-coloboma98555Clinical group
35612 Nanophthalmos2542, 522520, 525677, 98631, 98683Malformation syndrome
98938 Colobomatous microphthalmia2542Malformation syndrome
202948 Syndromic microphthalmia-anophthalmia-coloboma98555Category
568 Microphthalmia, Lenz type102283, 202948, 611327, 98655Malformation syndrome
1106 Microphthalmia with limb anomalies102283, 202948, 611327Malformation syndrome
1466 COFS syndrome191, 202948, 98649Clinical subtype
1806 Ectodermal dysplasia-blindness syndrome202948, 79373Malformation syndrome
2712 Oculofaciocardiodental syndrome102283, 139042, 183580, 202948, 522548, 611327, 98638, 98641Malformation syndrome
3434 MMEP syndrome102283, 202948, 611327Malformation syndrome
77299 Microphthalmia-brain atrophy syndrome102283, 182070, 183500, 202948, 611327Malformation syndrome
139471 Microphthalmia with brain and digit anomalies102283, 202948, 522548, 611327, 98641Malformation syndrome
157962 Oculoauricular syndrome, Schorderet type202948Malformation syndrome
178364 Syndromic microphthalmia type 5202948Malformation syndrome
251279 Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome202948, 716405Disease
363741 Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome102283, 202948, 240371, 611327Disease
424099 Colobomatous microphthalmia-rhizomelic dysplasia syndrome139021, 183570, 202948, 93438Malformation syndrome
431140 X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome102283, 139021, 183570, 202948, 611327Malformation syndrome
2432 Macrosomia-microphthalmia-cleft palate syndrome139039, 202948, 459787, 471383Malformation syndrome
2547 Microphthalmia-microtia-fetal akinesia syndrome1037, 202948, 459787, 471383Malformation syndrome
466682 Euthyroid Graves orbitopathy519272Disease
468672 Colobomatous macrophthalmia-microcornea syndrome519272, 522536Disease
659904 Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome102283, 519272, 522536, 611327Malformation syndrome
519384 Congenital cystic eye519272Morphological anomaly
363396 High myopia-sensorineural deafness syndrome519272, 522536, 90642Disease
88632 Anterior segment developmental anomaly183557, 519284, 522538, 98553Category
98634 Anterior segment developmental anomaly without extraocular manifestations522540, 525677, 88632, 98631Category
69736 Bilateral acute depigmentation of the iris98634Disease
98978 Axenfeld anomaly98634Morphological anomaly
250923 Isolated aniridia522548, 98634, 98641Morphological anomaly
519388 Autosomal recessive anterior segment dysgenesis98634Malformation syndrome
708 Peters anomaly98634Morphological anomaly
91483 Rieger anomaly98634Morphological anomaly
566 Congenital microcoria98634Malformation syndrome
91491 Congenital ectropion uveae98634Malformation syndrome
98944 Coloboma of iris98634Morphological anomaly
488197 Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome716405, 98634Disease
519392 Isolated iridoschisis98634Disease
519276 Anterior segment developmental anomaly with extraocular manifestations522540, 88632Category
139450 Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome519276, 716299Malformation syndrome
1473 Uveal coloboma-cleft lip and palate-intellectual disability102283, 139039, 519276, 611327Malformation syndrome
2090 GMS syndrome102283, 519276, 611327Malformation syndrome
2670 Pierson syndrome519276, 567562Malformation syndrome
3163 SHORT syndrome102283, 139021, 139033, 181368, 183570, 363245, 519276, 519286, 522568, 611327, 98305, 98622, 98638Malformation syndrome
96125 Distal deletion 6p syndrome102283, 261902, 519276, 611327, 98638Malformation syndrome
98557 Syndromic aniridia519276Category
1065 Aniridia-cerebellar ataxia-intellectual disability syndrome611314, 98557Malformation syndrome
1069 Aniridia-absent patella syndrome98557, 98638Malformation syndrome
1067 Aniridia-ptosis-intellectual disability-familial obesity syndrome102283, 519286, 522568, 611327, 98557Malformation syndrome
1068 Aniridia-intellectual disability syndrome102283, 519292, 522548, 522554, 611327, 98557, 98641Malformation syndrome
2321 Jung syndrome177107, 519276Malformation syndrome
91492 Early onset non-syndromic cataract183557, 522546, 98553, 98640Disease
98992 Early-onset partial cataract91492Clinical subtype
98984 Pulverulent cataract98992Clinical subtype
98988 Early-onset anterior polar cataract98992Clinical subtype
98990 Coralliform cataract98992Clinical subtype
98993 Early-onset posterior polar cataract98992Clinical subtype
98995 Early-onset zonular cataract98992Clinical subtype
98985 Early-onset sutural cataract98995Clinical subtype
98991 Early-onset nuclear cataract98995Clinical subtype
441452 Early-onset lamellar cataract98995Clinical subtype
98989 Cerulean cataract98992Clinical subtype
441447 Early-onset posterior subcapsular cataract98992Clinical subtype
98994 Total early-onset cataract91492Clinical subtype
98652 Lens size anomaly98553, 98639Category
519294 Syndromic microspherophakia522550, 98652Category
2551 Microspherophakia-metaphyseal dysplasia syndrome519292, 519294, 522548, 522554, 98641Malformation syndrome
3449 Weill-Marchesani syndrome102285, 330206, 519292, 519294, 522554, 93436, 98638Malformation syndrome
85194 Spondylo-ocular syndrome102283, 519294, 522548, 611327, 716446, 93446, 98641Malformation syndrome
363992 Ichthyosis-short stature-brachydactyly-microspherophakia syndrome139027, 281244, 519294Disease
3086 Autosomal dominant vitreoretinochoroidopathy519294, 716441Disease
2084 Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome519292, 519294, 522554Malformation syndrome
519396 Isolated microspherophakia98652Morphological anomaly
98653 Lens position anomaly98553, 98639Category
1885 Isolated ectopia lentis284993, 522552, 98653Malformation syndrome
519292 Syndromic ectopia lentis98653Category
231736 Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome519292Malformation syndrome
558 Marfan syndrome139030, 284993, 285014, 498448, 519292, 522554, 522564, 98623Disease
284963 Marfan syndrome type 1558Clinical subtype
284973 Marfan syndrome type 2558Clinical subtype
171844 Blindness-scoliosis-arachnodactyly syndrome139030, 519292, 522554, 716405Malformation syndrome
412022 Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome519292, 522554Malformation syndrome
1259 Blepharoptosis-myopia-ectopia lentis syndrome519292, 522554, 98638Disease
2325 Epidermolysis bullosa simplex with anodontia/hypodontia519292, 522554, 595351, 98027Malformation syndrome
394 Homocystinuria due to cystathionine beta-synthase deficiency139009, 225689, 519292, 522554, 611314, 68385, 79173, 98638, 98644Disease
833 Encephalopathy due to sulfite oxidase deficiency139009, 225689, 519292, 522554, 611314, 68385, 79173Disease
99731 Isolated sulfite oxidase deficiency833Clinical subtype
99732 Sulfite oxidase deficiency due to molybdenum cofactor deficiency309833, 833Clinical subtype
308386 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A99732Etiological subtype
308393 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B99732Etiological subtype
308400 Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C99732Etiological subtype
560 Marshall syndrome102285, 253, 330206, 519292, 522548, 522554, 79373, 93422, 98638, 98641Malformation syndrome
98655 Lens shape anomaly183557, 183607, 98553, 98639Category
63 Alport syndrome544590, 716427, 90642, 98646, 98655Disease
88917 X-linked Alport syndrome63Clinical subtype
88918 Autosomal dominant Alport syndrome63Clinical subtype
88919 Autosomal recessive Alport syndrome63Clinical subtype
1018 X-linked Alport syndrome-diffuse leiomyomatosis263756, 63Clinical subtype
653722 Digenic Alport syndrome63Clinical subtype
98943 Coloboma of eye lens183557, 183607, 98553, 98639Morphological anomaly
53691 Congenital cornea plana183557, 519282, 522556, 98553, 98621Morphological anomaly
98635 Corneodysgenesis183557, 519282, 522556, 98553Category
91489 Isolated congenital megalocornea98635Morphological anomaly
91490 Isolated congenital sclerocornea98635Morphological anomaly
98942 Coloboma of choroid and retina183557, 716296, 717311, 98553Morphological anomaly
1471 Coloboma of macula-brachydactyly type B syndrome183557, 716422, 98553Malformation syndrome
91494 Macular coloboma-cleft palate-hallux valgus syndrome139039, 183557, 716427, 98553Malformation syndrome
98945 Coloboma of macula183557, 716419, 717330, 98553Morphological anomaly
156005 Primary early-onset glaucoma183557, 359, 523000, 98553Clinical group
98976 Congenital glaucoma156005Disease
98977 Juvenile glaucoma156005Disease
98631 Congenital malformation of the eye with glaucoma as a major feature519331, 98553Category
190 Coats disease183503, 522520, 525677, 71281, 716459, 717348, 98631, 98683Disease
64734 Iridocorneal endothelial syndrome525677, 98631Disease
98979 Chandler syndrome64734Clinical subtype
98980 Cogan-Reese syndrome64734Clinical subtype
98981 Essential iris atrophy64734Clinical subtype
94058 Neovascular glaucoma98631Particular clinical situation in a disease or syndrome
238763 Glaucoma secondary to spherophakia/ectopia lentis and megalocornea525677, 98631Malformation syndrome
792 X-linked retinoschisis522548, 525677, 716367, 716432, 717336, 98631, 98641Malformation syndrome
98973 Posterior polymorphous corneal dystrophy525677, 98627, 98631Disease
637064 Isolated optic nerve aplasia183557, 519351, 522512, 98553Morphological anomaly
716213 Rare isolated developmental choroidal disorder519309, 98553Category
209956 Idiopathic uveal effusion syndrome280898, 716213Disease
674958 Stellate multiform amelanotic choroidopathy716213Disease
674943 Isolated angioid streaks716213Disease
714138 Circumscribed choroidal hemangioma673470, 716201, 98553Disease
637061 Isolated optic nerve hypoplasia183557, 519351, 522512, 98553Morphological anomaly
139009 Developmental anomaly of metabolic origin183530, 93890Category
585 Multiple sulfatase deficiency139009, 281241, 371442, 68385, 79225, 93448, 98644Disease
436 Hypophosphatasia139009, 93447Disease
247623 Perinatal lethal hypophosphatasia436Clinical subtype
247676 Adult hypophosphatasia436, 98027Clinical subtype
247685 Odontohypophosphatasia436, 98027Clinical subtype
912 Zellweger syndrome102283, 139009, 225686, 506213, 611327, 79189, 93593, 98650Disease
772 Infantile Refsum disease139009, 225686, 79189, 98096Disease
79195 Sterol biosynthesis disorder139009, 79226Category
139 CHILD syndrome102285, 139027, 281210, 294057, 330206, 622914, 79195, 93442Disease
35173 X-linked dominant chondrodysplasia punctata176, 281210, 79195, 98648Disease
46059 Lathosterolosis102283, 611327, 79195, 98644Disease
309025 Mevalonate kinase deficiency290842, 324924, 622720, 79195Disease
29 Mevalonic aciduria309025, 611314, 98644Clinical subtype
343 Hyperimmunoglobulinemia D with periodic fever290839, 309025Clinical subtype
488168 Microcephaly-congenital cataract-psoriasiform dermatitis syndrome183426, 522548, 79195, 79359, 98641Malformation syndrome
1426 Greenberg dysplasia79195, 93442Disease
35107 Desmosterolosis102283, 611327, 79195, 93443Disease
401973 MEND syndrome102283, 611327, 79195Malformation syndrome
79212 Mucolipidosis139009, 309279Category
576 Mucolipidosis type II102283, 611327, 79212, 93448Disease
577 Mucolipidosis type III79212, 93448Disease
423461 Mucolipidosis type III alpha/beta577Clinical subtype
423470 Mucolipidosis type III gamma577Clinical subtype
578 Mucolipidosis type IV225681, 522520, 611314, 716405, 79212, 98683Disease
87876 Sialidosis type 2102283, 139009, 309294, 611327, 93448, 93593Disease
93399 Juvenile sialidosis type 287876Clinical subtype
93400 Congenital sialidosis type 287876Clinical subtype
97593 Pseudohypoparathyroidism139009, 181405, 183592, 208593, 93603Category
457062 Pseudohypoparathyroidism without Albright hereditary osteodystrophy97593Clinical group
94089 Pseudohypoparathyroidism type 1B457062, 641343Disease
94090 Pseudohypoparathyroidism type 2457062Disease
457059 Pseudohypoparathyroidism with Albright hereditary osteodystrophy240371, 477808, 79381, 93436, 97593, 98648Clinical group
79443 Pseudohypoparathyroidism type 1A457059, 611314, 641343Disease
79444 Pseudohypoparathyroidism type 1C457059, 641343Disease
79445 Pseudopseudohypoparathyroidism457059, 641343Disease
369942 CADDS101940, 139009, 68356, 68373, 68385Disease
371235 Congenital disorder of glycosylation with developmental anomaly139009Category
280633 Multiple congenital anomalies-hypotonia-seizures syndrome102283, 309515, 371071, 371235, 611327Malformation syndrome
300496 Multiple congenital anomalies-hypotonia-seizures syndrome type 2102283, 309515, 371071, 371235, 611327Malformation syndrome
370930 XYLT1-CDG102283, 309450, 371047, 371235, 611327Disease
370943 Autism spectrum disorder-epilepsy-arthrogryposis syndrome180772, 309347, 371071, 371235, 611314, 97120Disease
371195 Congenital disorder of glycosylation-related bone disorder364803, 371235Category
2311 Autosomal recessive spondylocostal dysostosis309505, 371195, 93454Malformation syndrome
3144 Schneckenbecken dysplasia309463, 371195, 93434Malformation syndrome
321 Multiple osteochondromas183527, 309450, 371195, 68411, 93450Disease
75496 B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome102283, 309450, 371195, 536471, 611327, 93459Clinical subtype
247262 Hyperphosphatasia-intellectual disability syndrome102283, 309515, 371195, 498454, 611327Disease
263463 CHST3-related skeletal dysplasia309450, 371195, 93441Disease
263508 COG1-CDG102283, 309568, 371047, 371195, 611327Disease
314667 TMEM165-CDG309347, 371047, 371157, 371195, 93446Disease
363417 Temtamy preaxial brachydactyly syndrome139042, 309450, 371047, 371195, 371212, 498454, 611314Malformation syndrome
536467 B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome309450, 371195, 536471, 611314, 93446Clinical subtype
371212 Congenital disorder of glycosylation with deafness as a major feature371235, 90642Category
244310 RFT1-CDG309347, 371071, 371157, 371212, 611314Disease
139012 Rare bone development disorder93890Category
364526 Primary bone dysplasia139012, 183524, 404584, 93419Category
498445 Genetic inflammatory or rheumatoid-like osteoarthropathy364526Category
1159 Progressive pseudorheumatoid dysplasia253, 498445Disease
498474 Hyaline fibromatosis syndrome498445, 93449Disease
2028 Juvenile hyaline fibromatosis139042, 183580, 477808, 498474, 71209, 79381Clinical subtype
2176 Infantile systemic hyalinosis139027, 498474Clinical subtype
1451 CINCA syndrome208650, 280926, 498445, 611314Disease
210115 Sterile multifocal osteomyelitis with periostitis and pustulosis290839, 290842, 324927, 324942, 498445, 619238, 622720Disease
53715 Familial tumoral calcinosis182130, 183487, 183634, 498445, 68415, 79386Disease
306658 Familial normophosphatemic tumoral calcinosis53715Clinical subtype
306661 Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome309458, 371200, 53715Clinical subtype
77297 Majeed syndrome290839, 290842, 293830, 324927, 324942, 498445, 619238, 622720Disease
498448 Overgrowth or tall stature syndrome with skeletal involvement364526Category
622925 X-linked severe syndromic thoracic aortic aneurysm and dissection284993, 285014, 498448Malformation syndrome
659387 PRC-2 complex-related overgrowth spectrum102283, 498448, 611327, 93460Clinical group
659396 Cohen-Gibson syndrome659387Malformation syndrome
3447 Weaver syndrome659387Malformation syndrome
659463 Imagawa-Matsumoto syndrome659387Malformation syndrome
744 Proteus syndrome156237, 166466, 211277, 294057, 459537, 498448, 622914, 93460Malformation syndrome
821 Sotos syndrome102283, 183422, 262038, 498448, 522548, 611327, 93460, 98641Disease
561 Marshall-Smith syndrome102283, 498448, 611327, 93460Malformation syndrome
140944 CLOVES syndrome183484, 211252, 294057, 459537, 498448, 530313, 622914, 715460, 79382Malformation syndrome
115 Congenital contractural arachnodactyly284993, 498448, 97120Malformation syndrome
60030 Loeys-Dietz syndrome284993, 285014, 498448Malformation syndrome
498488 Overgrowth syndrome with 2q37 translocation263708, 498448Malformation syndrome
329191 Tall stature-long halluces-multiple extra-epiphyses syndrome498448, 93454Disease
498485 Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome498448Malformation syndrome
477831 Kosaki overgrowth syndrome498448Malformation syndrome
597738 Luscan-Lumish syndrome102283, 498448, 611327, 93460Malformation syndrome
364536 Primary bone dysplasia with micromelia364526Category
15 Achondroplasia364536, 93420Disease
429 Hypochondroplasia364536, 93420Disease
628 Diastrophic dysplasia364536, 93423Disease
1422 Chondrodysplasia-difference of sex development syndrome325638, 364536, 519286, 522568, 98087Malformation syndrome
85165 Severe achondroplasia-developmental delay-acanthosis nigricans syndrome364536, 79359, 79360, 93420Disease
364541 Otopalatodigital syndrome spectrum disorder364526, 93425Clinical group
90652 Otopalatodigital syndrome type 2102283, 139036, 139042, 156237, 183576, 364541, 611327, 90642Malformation syndrome
90650 Otopalatodigital syndrome type 1102283, 139036, 139042, 156237, 183576, 364541, 611327, 90642Malformation syndrome
137834 Frank-Ter Haar syndrome364541Disease
435804 Short stature-advanced bone age-early-onset osteoarthritis syndrome364526, 674499Disease
253 Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia364526Clinical group
642099 Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type253, 93441Disease
664377 MGP-related spondyloepiphyseal dysplasia139021, 183570, 253Malformation syndrome
2114 Hip dysplasia, Beukes type253Disease
800 Schwartz-Jampel syndrome206644, 206973, 207101, 253, 522548, 674499, 98641Disease
239 Dyggve-Melchior-Clausen disease102283, 253, 611327Disease
2635 Metatropic dysplasia253, 364820Disease
828 Stickler syndrome138041, 253, 716446, 90642, 98638Disease
90653 Stickler syndrome type 1828, 93421, 98648Clinical subtype
90654 Stickler syndrome type 2828, 93422, 98648Clinical subtype
250984 Autosomal recessive Stickler syndrome828, 93429Clinical subtype
1427 Autosomal recessive otospondylomegaepiphyseal dysplasia253, 93421, 93422Disease
1667 Wolcott-Rallison syndrome102283, 181381, 183625, 253, 611327Disease
1830 Schimke immuno-osseous dysplasia169349, 180766, 253, 567562Disease
1865 Dyssegmental dysplasia, Silverman-Handmaker type253, 519296, 674499Disease
485 Kniest dysplasia138041, 253, 93421Disease
3101 Richieri Costa-da Silva syndrome102283, 206973, 253, 611327Malformation syndrome
1856 Spondyloperipheral dysplasia-short ulna syndrome253, 93421Disease
83629 Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome182070, 183500, 253, 68356Disease
2619 Brachydactylous dwarfism, Mseleni type253Disease
93279 Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis253, 93421Disease
93282 Spondyloepimetaphyseal dysplasia, PAPSS2 type253, 93423Disease
93283 Spondyloepiphyseal dysplasia, Kimberley type253, 674499Disease
93284 Spondyloepiphyseal dysplasia tarda253Disease
93346 Spondyloepimetaphyseal dysplasia congenita, Strudwick type253, 93421Disease
93347 Anauxetic dysplasia253Disease
93349 X-linked spondyloepimetaphyseal dysplasia253Disease
93351 Spondyloepimetaphyseal dysplasia, Irapa type253Disease
93352 Spondyloepimetaphyseal dysplasia, Shohat type253Disease
93356 Spondyloepimetaphyseal dysplasia, Missouri type253Disease
93357 SPONASTRIME dysplasia253Disease
93358 Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome253Disease
93360 Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type253, 93441Disease
94068 Spondyloepiphyseal dysplasia congenita253, 93421Disease
99642 Spondyloepimetaphyseal dysplasia, Handigodu type253Disease
137678 Spondyloepiphyseal dysplasia with metatarsal shortening253, 93421Disease
156728 Spondyloepimetaphyseal dysplasia, matrilin-3 type253Disease
156731 Dyssegmental dysplasia, Rolland-Desbuquois type253Disease
157965 SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome253, 519296, 536471Clinical subtype
163649 Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome102283, 139039, 253, 611327Disease
163654 Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome253Disease
163662 Spondyloepiphyseal dysplasia, Reardon type253Disease
163665 Spondyloepiphyseal dysplasia tarda, Kohn type102283, 253, 611327Disease
163668 Spondyloepiphyseal dysplasia, MacDermot type253, 90642Malformation syndrome
166100 Autosomal dominant otospondylomegaepiphyseal dysplasia102285, 138041, 139039, 253, 330206, 90642, 93422Malformation syndrome
168443 Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome253Disease
168451 Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome253Disease
168454 Spondyloepimetaphyseal dysplasia, Geneviève type253Disease
171866 Spondyloepimetaphyseal dysplasia, aggrecan type253, 674499Disease
178355 Smith-McCort dysplasia253Disease
228387 Spondylo-megaepiphyseal-metaphyseal dysplasia253Disease
263482 Spondyloepimetaphyseal dysplasia, Maroteaux type253, 364820Disease
353298 Roifman syndrome102283, 169349, 253, 611327Disease
370015 Spondyloepimetaphyseal dysplasia, Isidor-Toutain type253Disease
420794 Cono-spondylar dysplasia102283, 139021, 183570, 253, 611327Malformation syndrome
436174 Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome156643, 207018, 253, 35696, 522548, 68385, 90642, 90692, 98641Disease
642085 EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity253, 93441Disease
611207 Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome102283, 139021, 183570, 253, 611327, 68356, 716405, 90642Clinical syndrome
1458 CODAS syndrome102283, 102285, 253, 330206, 522548, 611327, 98641Malformation syndrome
457395 Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome102283, 139021, 183570, 253, 611327Malformation syndrome
459051 Spondyloepiphyseal dysplasia, Stanescu type253, 93421Disease
254 Spondylometaphyseal dysplasia364526Clinical group
168555 Spondylometaphyseal dysplasia, A4 type254Disease
448267 Regressive spondylometaphyseal dysplasia254Malformation syndrome
1855 Spondyloenchondrodysplasia254, 477647, 481671Malformation syndrome
85167 Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome254, 716405Disease
93314 Spondylometaphyseal dysplasia, Kozlowski type254, 364820Disease
93315 Spondylometaphyseal dysplasia, 'corner fracture' type254, 93421Disease
93316 Spondylometaphyseal dysplasia, Schmidt type254, 93421Disease
166272 Odontochondrodysplasia180766, 183580, 254Malformation syndrome
168544 Spondylometaphyseal dysplasia, Golden type254Disease
168549 Axial spondylometaphyseal dysplasia254, 716405Disease
168552 Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome254Disease
93426 Ciliopathies with major skeletal involvement364526, 364803Category
1505 Short rib-polydactyly syndrome182108, 93426Clinical group
498497 Short rib-polydactyly syndrome type 51505Malformation syndrome
474 Jeune syndrome1505, 156162, 156165, 183592, 506213, 93603Malformation syndrome
93268 Short rib-polydactyly syndrome, Beemer-Langer type1505Malformation syndrome
93269 Short rib-polydactyly syndrome, Majewski type1505Malformation syndrome
397715 Joubert syndrome with Jeune asphyxiating thoracic dystrophy140874, 1505Malformation syndrome
1803 Thoracomelic dysplasia182108, 93426Disease
2753 Orofaciodigital syndrome type 4102283, 140997, 182108, 611327, 90642, 93426Malformation syndrome
3317 Thoracolaryngopelvic dysplasia182108, 182111, 183622, 93426Malformation syndrome
140969 Saldino-Mainzer syndrome156162, 506213, 716405, 93426, 93587Disease
464366 NEK9-related lethal skeletal dysplasia182108, 363250, 93426Malformation syndrome
93429 Multiple epiphyseal dysplasia and pseudoachondroplasia364526Category
251 Multiple epiphyseal dysplasia93429Clinical group
93307 Multiple epiphyseal dysplasia type 4251, 93423Disease
93308 Multiple epiphyseal dysplasia type 1251Disease
93311 Multiple epiphyseal dysplasia type 5251Disease
166002 Multiple epiphyseal dysplasia due to collagen 9 anomaly251Disease
166016 Multiple epiphyseal dysplasia, Lowry type251Disease
166024 Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome251Disease
166029 Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome251Disease
166032 Multiple epiphyseal dysplasia-miniepiphyses syndrome251Disease
647676 Multiple epiphyseal dysplasia type 7251Disease
1824 Lowry-Wood syndrome93429Disease
750 Pseudoachondroplasia93429Disease
93430 Multiple metaphyseal dysplasia364526Clinical group
1040 Metaphyseal anadysplasia93430Disease
174 Metaphyseal chondrodysplasia, Schmid type93430Disease
1837 Metaphyseal chondrodysplasia, Rosenberg type93430Disease
2501 Metaphyseal chondrodysplasia, Spahr type93430Disease
2502 Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome102283, 611327, 90642, 93430Malformation syndrome
2504 Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome93430Malformation syndrome
175 Cartilage-hair hypoplasia169349, 519296, 522520, 79373, 93430, 98683Disease
811 Shwachman-Diamond syndrome101937, 102283, 165661, 183422, 331184, 611327, 68383, 93430Disease
33067 Metaphyseal chondrodysplasia, Jansen type93430Disease
166038 Metaphyseal chondrodysplasia, Kaitila type93430Disease
79106 Eiken syndrome93430, 93447Malformation syndrome
93434 Spondylodysplastic dysplasia364526Clinical group
2746 Opsismodysplasia93434Disease
932 Achondrogenesis93434Disease
93296 Achondrogenesis type 2932, 93421Clinical subtype
93297 Hypochondrogenesis932, 93421Clinical subtype
93298 Achondrogenesis type 1B932, 93423Clinical subtype
93299 Achondrogenesis type 1A932Clinical subtype
1293 Brachyolmia93434Clinical group
448242 Autosomal recessive brachyolmia1293Malformation syndrome
2899 Brachyolmia-amelogenesis imperfecta syndrome1293, 139042, 183580Malformation syndrome
93302 Brachyolmia, Maroteaux type1293Malformation syndrome
93304 Autosomal dominant brachyolmia1293, 364820Malformation syndrome
3180 Spondylocamptodactyly syndrome93434Malformation syndrome
3275 Spondylocarpotarsal synostosis93425, 93434Malformation syndrome
66637 Diaphanospondylodysostosis93434, 93454Malformation syndrome
85166 Platyspondylic dysplasia, Torrance type93421, 93434Malformation syndrome
93317 Spondylometaphyseal dysplasia, Sedaghatian type93434Malformation syndrome
401979 Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type93434Malformation syndrome
508533 Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome102283, 169349, 611327, 93434Disease
622934 SBDS-related severe neonatal spondylometaphyseal dysplasia93434Malformation syndrome
93436 Acromelic dysplasia364526Clinical group
464288 Short stature-brachydactyly-obesity-global developmental delay syndrome102283, 240371, 611327, 93436Malformation syndrome
623695 MIR140-related spondyloepiphyseal dysplasia93436Malformation syndrome
950 Acrodysostosis102283, 155899, 611327, 93436Malformation syndrome
969 Acromicric dysplasia93436Malformation syndrome
2623 Geleophysic dysplasia93436Malformation syndrome
3041 Intellectual disability-balding-patella luxation-acromicria syndrome102283, 611327, 93436Malformation syndrome
63442 Angel-shaped phalango-epiphyseal dysplasia93436Malformation syndrome
63446 Acrocapitofemoral dysplasia93436Malformation syndrome
85168 Craniofacial conodysplasia93436Malformation syndrome
88630 Terminal osseous dysplasia-pigmentary defects syndrome183466, 79375, 93425, 93436Malformation syndrome
324764 Trichorhinophalangeal syndrome79373, 93436Clinical group
502 Trichorhinophalangeal syndrome type 2102283, 262065, 324764, 611327Malformation syndrome
77258 Trichorhinophalangeal syndrome type 1324764Malformation syndrome
2588 Myhre syndrome102283, 611327, 93436Malformation syndrome
93437 Acromesomelic dysplasia364526Clinical group
968 Acromesomelic dysplasia, Hunter-Thompson type93437Malformation syndrome
40 Acromesomelic dysplasia, Maroteaux type93437Malformation syndrome
2098 Acromesomelic dysplasia, Grebe type93437Malformation syndrome
2496 Mesomelia-synostoses syndrome262065, 93437Malformation syndrome
2639 Fibular aplasia-complex brachydactyly syndrome294955, 404574, 93437Malformation syndrome
93382 Brachydactyly type A6498451, 93437Malformation syndrome
93438 Mesomelic and rhizo-mesomelic dysplasia364526Clinical group
240 Léri-Weill dyschondrosteosis93438Malformation syndrome
1453 Cleidorhizomelic syndrome93438Malformation syndrome
1836 Mesomelic dysplasia, Kantaputra type93438Malformation syndrome
2021 Fibrochondrogenesis93422, 93438Disease
2497 Upper limb mesomelic dysplasia, type Fryns93438Malformation syndrome
2631 Mesomelic dwarfism-cleft palate-camptodactyly syndrome102285, 139039, 330206, 93438Malformation syndrome
2632 Langer mesomelic dysplasia93438Malformation syndrome
2633 Mesomelic dysplasia, Nievergelt type93438Malformation syndrome
2634 Mesomelic dwarfism, Reinhardt-Pfeiffer type93438Malformation syndrome
2733 Omodysplasia93438Malformation syndrome
93328 Autosomal dominant omodysplasia2733Clinical subtype
93329 Autosomal recessive omodysplasia2733Clinical subtype
3098 Rhizomelic syndrome, Urbach type93438Malformation syndrome
2831 Rhizomelic dysplasia, Patterson-Lowry type93438Malformation syndrome
56304 Atelosteogenesis type II102283, 138055, 611327, 93423, 93438Malformation syndrome
85170 Mesomelic dysplasia, Savarirayan type93438Malformation syndrome
97360 Robinow syndrome102283, 139021, 183570, 611327, 93438Malformation syndrome
1507 Autosomal recessive Robinow syndrome97360Clinical subtype
3107 Autosomal dominant Robinow syndrome97360Clinical subtype
314795 SHOX-related short stature93438Disease
397623 Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome102285, 139021, 156243, 183570, 330206, 90642, 93438Malformation syndrome
440354 Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome90642, 93422, 93438Malformation syndrome
163966 X-linked dominant chondrodysplasia, Chassaing-Lacombe type102283, 611327, 93438Disease
580940 QRICH1-related intellectual disability-chondrodysplasia syndrome102283, 139021, 183570, 611327, 93438Malformation syndrome
632603 Mesomelic dysplasia-digital anomalies-intellectual disability syndrome102283, 611327, 93438Malformation syndrome
93439 Campomelic dysplasia and related disorders364526Clinical group
656283 Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency331223, 93439Disease
140 Campomelic dysplasia102283, 325638, 611327, 93439, 98087Malformation syndrome
1318 Campomelia, Cumming type102283, 611327, 93439Malformation syndrome
1801 Kyphomelic dysplasia93439Malformation syndrome
2768 Blount disease93439Malformation syndrome
3344 Weismann-Netter syndrome93439Malformation syndrome
3206 Stüve-Wiedemann syndrome93439Malformation syndrome
324307 Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome93439Malformation syndrome
93440 Slender bone dysplasia364526Clinical group
2333 Kenny-Caffey syndrome139021, 181402, 183570, 93440Malformation syndrome
93324 Autosomal recessive Kenny-Caffey syndrome2333Etiological subtype
93325 Autosomal dominant Kenny-Caffey syndrome2333Etiological subtype
2616 3M syndrome102285, 139021, 183570, 330206, 93440Malformation syndrome
85173 IMAGe syndrome156643, 165707, 595337, 90692, 93440Malformation syndrome
314394 Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome363250, 93440Disease
1506 Thin ribs-tubular bones-dysmorphism syndrome93440Malformation syndrome
2108 Hallermann-Streiff syndrome102283, 139021, 183570, 611327, 79373, 79389, 93440, 98650Malformation syndrome
50811 Lipodystrophy-intellectual disability-deafness syndrome102283, 139033, 363245, 611327, 90642, 93440, 93447, 98305Disease
2109 Hallermann-Streiff-like syndrome102283, 139021, 183570, 611327, 79373, 79389, 93440, 98650Malformation syndrome
93441 Primary bone dysplasia with multiple joint dislocations364526Clinical group
2370 Larsen-like osseous dysplasia-short stature syndrome93441Malformation syndrome
1190 Atelosteogenesis type I138055, 93425, 93441Malformation syndrome
114 Auriculoosteodysplasia93441Malformation syndrome
1263 Boomerang dysplasia93425, 93441Disease
1425 Desbuquois syndrome139030, 93441, 98638Malformation syndrome
1508 Coxoauricular syndrome93441Malformation syndrome
2371 Lethal Larsen-like syndrome139030, 93441Malformation syndrome
503 Larsen syndrome139030, 139039, 93425, 93441Malformation syndrome
56305 Atelosteogenesis type III102283, 138055, 611327, 93425, 93441Malformation syndrome
85174 Pseudodiastrophic dysplasia139030, 93441Malformation syndrome
280586 Chondrodysplasia with joint dislocations, gPAPP type93441Malformation syndrome
438117 Steel syndrome93441Disease
527450 Severe myopia-generalized joint laxity-short stature syndrome139030, 93441Malformation syndrome
589442 Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome102283, 139021, 183570, 611327, 716405, 90642, 93441Malformation syndrome
93442 Chondrodysplasia punctata364526Clinical group
177 Rhizomelic chondrodysplasia punctata225686, 3276, 611314, 68385, 93442, 98648Disease
309803 Rhizomelic chondrodysplasia punctata type 3177Etiological subtype
309789 Rhizomelic chondrodysplasia punctata type 1177Etiological subtype
309796 Rhizomelic chondrodysplasia punctata type 2177Etiological subtype
468717 Rhizomelic chondrodysplasia punctata type 5177Etiological subtype
176 Non-rhizomelic chondrodysplasia punctata93442Clinical group
79345 Brachytelephalangic chondrodysplasia punctata176, 91088Malformation syndrome
79346 Chondrodysplasia punctata, tibial-metacarpal type176Malformation syndrome
79347 Chondrodysplasia punctata, Toriello type176Malformation syndrome
85175 Astley-Kendall dysplasia93442Malformation syndrome
85202 Keutel syndrome102283, 611327, 93442Malformation syndrome
93444 Primary bone dysplasia with increased bone density364526Category
2801 Juvenile Paget disease93444Malformation syndrome
1328 Camurati-Engelmann disease93444Malformation syndrome
1798 Craniofacial dysostosis-diaphyseal hyperplasia syndrome93444Malformation syndrome
1802 Ghosal hematodiaphyseal dysplasia93444Malformation syndrome
2658 Lenz-Majewski hyperostotic dysplasia102283, 611327, 93444Malformation syndrome
2710 Oculodentodigital dysplasia102283, 139042, 183580, 522548, 568047, 611327, 79373, 93444, 98641Malformation syndrome
2779 Osteopathia striata-pigmentary dermopathy-white forelock syndrome183466, 79375, 93444Malformation syndrome
2790 Endosteal hyperostosis, Worth type93444Malformation syndrome
3005 Pyle disease93444Disease
3152 Sclerosteosis93444Malformation syndrome
3352 Tricho-dento-osseous syndrome139042, 183580, 79367, 79373, 93444Malformation syndrome
3416 Hyperostosis corticalis generalisata93444Malformation syndrome
646139 Dysplastic cortical hyperostosis93444Malformation syndrome
2204 Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type646139Clinical subtype
646136 Dysplastic cortical hyperostosis, Al-Gazali type646139Clinical subtype
2781 Osteopetrosis and related disorders506219, 93444Clinical group
94063 12q14 microdeletion syndrome102283, 261821, 2781, 611327Malformation syndrome
166119 Isolated osteopoikilosis2781Disease
178389 Osteopetrosis-hypogammaglobulinemia syndrome101977, 2781Disease
210110 Intermediate osteopetrosis2781Malformation syndrome
53 Albers-Schönberg osteopetrosis2781, 519337Malformation syndrome
2785 Osteopetrosis with renal tubular acidosis2781, 314822, 611314Disease
1782 Dysosteosclerosis2781Malformation syndrome
1879 Melorheostosis with osteopoikilosis2781Malformation syndrome
2485 Melorheostosis2781Malformation syndrome
2777 Osteomesopyknosis2781Malformation syndrome
667 Autosomal recessive malignant osteopetrosis2781, 519337Malformation syndrome
2783 Autosomal dominant osteopetrosis type 12781Malformation syndrome
69088 Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome2781, 331217, 568047, 79373Disease
85179 Infantile osteopetrosis with neuroaxonal dysplasia2781Malformation syndrome
99844 Leukocyte adhesion deficiency type III2781, 2968Clinical subtype
500548 Osteosclerotic metaphyseal dysplasia2781Malformation syndrome
556985 Early-onset calcifying leukoencephalopathy-skeletal dysplasia182070, 183500, 2781, 68356Disease
75325 Osteosclerosis-ichthyosis-premature ovarian failure syndrome281244, 399853, 400022, 485382, 93444, 95710Disease
85182 Diaphyseal medullary stenosis-bone malignancy syndrome183527, 68411, 93444Disease
85184 Craniometadiaphyseal dysplasia, wormian bone type93444Malformation syndrome
85188 Metaphyseal dysplasia, Braun-Tinschert type93444Malformation syndrome
93443 Neonatal osteosclerotic dysplasia93444Clinical group
1310 Caffey disease93443Malformation syndrome
1832 Osteosclerotic bone dysplasia93443Malformation syndrome
50945 Blomstrand lethal chondrodysplasia522548, 93443, 98641Malformation syndrome
248095 Primary hypertrophic osteoarthropathy93444Clinical group
1525 Cranio-osteoarthropathy248095Malformation syndrome
2796 Pachydermoperiostosis248095, 477808, 79381Malformation syndrome
314029 High bone mass osteogenesis imperfecta93444Disease
324364 Mixed sclerosing bone dystrophy with extra-skeletal manifestations93444Disease
391327 X-linked calvarial hyperostosis93444Disease
443098 Hyperostosis cranialis interna90642, 93444Disease
93446 Primary bone dysplasia with decreased bone density364526Category
2771 Bruck syndrome167762, 93446Malformation syndrome
2772 Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome519296, 522548, 93446, 98641Malformation syndrome
2773 Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome102283, 611327, 93446Malformation syndrome
666 Osteogenesis imperfecta93446Disease
216796 Osteogenesis imperfecta type 1519296, 666Clinical subtype
216804 Osteogenesis imperfecta type 2519296, 666Clinical subtype
216812 Osteogenesis imperfecta type 3167762, 519296, 666Clinical subtype
216820 Osteogenesis imperfecta type 4167762, 519296, 666Clinical subtype
216828 Osteogenesis imperfecta type 5666Clinical subtype
2097 Grant syndrome519296, 93446Malformation syndrome
2324 Osteopenia-intellectual disability-sparse hair syndrome102283, 611327, 93446Malformation syndrome
2786 Osteoporosis-oculocutaneous hypopigmentation syndrome93446Malformation syndrome
2788 Osteoporosis-pseudoglioma syndrome102283, 519286, 522548, 522568, 611327, 716459, 717348, 93446, 98641Disease
457378 Complex lethal osteochondrodysplasia363250, 93446Malformation syndrome
53697 Gnathodiaphyseal dysplasia93446, 93450Malformation syndrome
85191 Singleton-Merten dysplasia477647, 481671, 93446Malformation syndrome
85192 Calvarial doughnut lesions-bone fragility syndrome93446Malformation syndrome
85193 Idiopathic juvenile osteoporosis182231, 486955, 93446Malformation syndrome
166277 Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia180766, 183580, 93446Malformation syndrome
230857 Ehlers-Danlos/osteogenesis imperfecta syndrome139027, 139030, 182222, 228215, 619249, 93446Disease
319195 Chondroectodermal dysplasia with night blindness79373, 93446Disease
391330 X-linked osteoporosis with fractures93446Disease
498481 LRP5-related primary osteoporosis93446Malformation syndrome
536532 Classical-like Ehlers-Danlos syndrome type 293446, 98249Disease
93447 Primary bone dysplasia with defective bone mineralization364526Category
557003 Oculoskeletodental syndrome102283, 363250, 522548, 611327, 77830, 90642, 93447, 98027, 98641Disease
417 Neonatal severe primary hyperparathyroidism181408, 208596, 93447Disease
405 Familial hypocalciuric hypercalcemia183634, 264719, 68415, 93447Disease
93372 Familial hypocalciuric hypercalcemia type 1405Etiological subtype
101049 Familial hypocalciuric hypercalcemia type 2405Etiological subtype
101050 Familial hypocalciuric hypercalcemia type 3405Etiological subtype
73230 Ossification anomalies-psychomotor developmental delay syndrome102283, 182108, 611327, 93447Disease
289098 Disorders of vitamin D metabolism183634, 68415, 93447Category
437 Hypophosphatemic rickets183592, 289098, 93603Clinical group
1652 Dent disease437, 506213Disease
93622 Dent disease type 11652Clinical subtype
93623 Dent disease type 21652Clinical subtype
213 Cystinosis437, 79207Disease
411629 Infantile nephropathic cystinosis213, 506213, 93593Clinical subtype
411634 Juvenile nephropathic cystinosis213, 506213, 93593Clinical subtype
411641 Ocular cystinosis213, 98628Clinical subtype
244305 Dominant hypophosphatemia with nephrolithiasis or osteoporosis437, 506213Disease
89936 X-linked hypophosphatemia437Disease
89937 Autosomal dominant hypophosphatemic rickets437Disease
157215 Hereditary hypophosphatemic rickets with hypercalciuria437Disease
289176 Autosomal recessive hypophosphatemic rickets437Disease
289103 Hypocalcemic rickets289098Clinical group
93160 Hypocalcemic vitamin D-resistant rickets289103Disease
289157 Hypocalcemic vitamin D-dependent rickets289103Disease
1416 Familial calcium pyrophosphate deposition182231, 271870, 93447Disease
93449 Primary osteolysis364526Category
647667 Mandibuloacral dysplasia associated to MTX2139033, 363245, 93449Malformation syndrome
1952 Epiphyseal stippling-osteoclastic hyperplasia syndrome93449Malformation syndrome
2457 Mandibuloacral dysplasia102285, 139033, 330206, 363245, 522548, 93449, 98305, 98641Malformation syndrome
90153 Mandibuloacral dysplasia with type A lipodystrophy2457, 300763Clinical subtype
90154 Mandibuloacral dysplasia with type B lipodystrophy2457Clinical subtype
2776 Autosomal recessive distal osteolysis syndrome102283, 611327, 93449Malformation syndrome
740 Hutchinson-Gilford progeria syndrome139027, 139033, 300766, 363245, 79389, 93449Disease
50809 Talo-patello-scaphoid osteolysis93449Malformation syndrome
85195 Familial expansile osteolysis93449Disease
280576 Nestor-Guillermo progeria syndrome139033, 363245, 79389, 93449, 98305Malformation syndrome
352636 Phalangeal microgeodic syndrome93449Disease
371428 Multicentric osteolysis-nodulosis-arthropathy spectrum93449Disease
93450 Primary bone dysplasia with disorganized development of skeletal components364526Category
73 Gorham-Stout disease182231, 235832, 2415, 486955, 93450Malformation syndrome
636 Neurofibromatosis type 1101950, 156629, 166466, 183466, 183487, 183619, 477771, 506213, 536391, 634518, 79375, 79386, 93450Disease
97685 17q11 microdeletion syndrome262137, 636Clinical subtype
363700 Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion636Etiological subtype
337 Fibrodysplasia ossificans progressiva102283, 183484, 364531, 611327, 79382, 93450Disease
2762 Progressive osseous heteroplasia364531, 477808, 79381, 93450Malformation syndrome
595216 Fibrous dysplasia/McCune-Albright syndrome93450Clinical group
562 McCune-Albright syndrome178040, 183422, 183466, 314749, 435564, 595216, 650187, 79375Disease
249 Fibrous dysplasia of bone595216Malformation syndrome
93277 Monostotic fibrous dysplasia249Clinical subtype
93276 Polyostotic fibrous dysplasia249Clinical subtype
184 Cherubism102285, 290839, 324936, 324953, 330206, 619238, 93450, 98027Malformation syndrome
1822 Dysplasia epiphysealis hemimelica93450Malformation syndrome
1962 Exostoses-anetodermia-brachydactyly type E syndrome93450Malformation syndrome
2499 Metachondromatosis93450Malformation syndrome
2767 Carpotarsal osteochondromatosis93450Malformation syndrome
2867 Short stature, Brussels type93450Malformation syndrome
3019 Ramon syndrome102283, 139042, 183580, 611327, 93450Malformation syndrome
3408 Upington disease93450Malformation syndrome
2770 Nasu-Hakola disease276058, 68356, 93450, 98534Malformation syndrome
57782 Mazabraud syndrome71209, 93450Malformation syndrome
85197 Genochondromatosis type 193450Disease
85198 Dysspondyloenchondromatosis93450Malformation syndrome
93398 Genochondromatosis type 293450Disease
99646 Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria93450Disease
488265 Osteofibrous dysplasia93450Disease
93465 Lethal chondrodysplasia364526Category
1842 Bone dysplasia, lethal Holmgren type93465Malformation syndrome
2347 Lethal Kniest-like dysplasia93465Malformation syndrome
3003 Pyknoachondrogenesis93465Malformation syndrome
1423 Lethal recessive chondrodysplasia93465Malformation syndrome
364531 Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments364526Category
364559 Dysostosis139012, 93419Category
66630 Congenital pseudoarthrosis of the clavicle364559, 404568Disease
93453 Dysostosis with predominant craniofacial involvement364559, 404568Category
1517 Cantú syndrome102283, 611327, 93453Malformation syndrome
1794 Oculomaxillofacial dysostosis139039, 93453Malformation syndrome
250 Frontonasal dysplasia93453Clinical group
1519 SPECC1L-related hypertelorism syndrome102285, 250, 330206Malformation syndrome
1521 Craniofrontonasal dysplasia-Poland anomaly syndrome180193, 250Malformation syndrome
1993 Pai syndrome139039, 250Malformation syndrome
1827 Acromelic frontonasal dysplasia102283, 250, 364574, 611327Malformation syndrome
228390 Frontonasal dysplasia-alopecia-genital anomalies syndrome102283, 250, 481771, 522520, 611327, 79364, 98683Malformation syndrome
306542 Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome139036, 139039, 183576, 250Malformation syndrome
391474 Frontorhiny141234, 250, 414726Malformation syndrome
398156 Oculoauriculofrontonasal syndrome250Malformation syndrome
488437 SIX2-related frontonasal dysplasia250Malformation syndrome
157832 Craniorhiny156246, 250Malformation syndrome
521308 Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome250Malformation syndrome
2549 Oculoauriculovertebral spectrum with radial defects102285, 139036, 183576, 330206, 93453Malformation syndrome
2769 Familial osteodysplasia, Anderson type93453Malformation syndrome
3291 Teebi-Shaltout syndrome79373, 93453Malformation syndrome
155896 Otomandibular dysplasia183583, 68329, 93453, 96333Category
137888 Auriculocondylar syndrome139036, 155896, 183576Malformation syndrome
141132 Oculo-auriculo-vertebral spectrum102285, 139036, 155896, 183576, 330206, 519329Malformation syndrome
155899 Mandibulofacial dysostosis155896Clinical group
443995 Mandibulofacial dysostosis with alopecia155899, 481771, 79364, 90642Malformation syndrome
156202 Otomandibular dysplasia associated with monogenic syndromes155896Category
1296 Lambert syndrome102283, 139036, 156202, 183576, 611327Malformation syndrome
140997 Orofaciodigital syndrome139036, 156215, 156237, 183576, 294959, 93453Clinical group
2751 Orofaciodigital syndrome type 2102283, 140997, 611327, 90642Malformation syndrome
2755 Orofaciodigital syndrome type 8140997Malformation syndrome
2919 Orofaciodigital syndrome type 5102283, 140997, 611327Malformation syndrome
141000 Orofaciodigital syndrome type 11140997Malformation syndrome
141007 Orofaciodigital syndrome type 9140997, 716405Malformation syndrome
508501 Orofaciodigital syndrome type 18140997, 363250Malformation syndrome
459061 Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome102283, 139021, 183570, 611327, 93453Malformation syndrome
314555 Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome102283, 139042, 420755, 519329, 522578, 611327, 93453Malformation syndrome
3262 Dobrow syndrome93453Malformation syndrome
93454 Dysostosis with predominant vertebral and costal involvement364559, 404568Category
1393 Cerebrocostomandibular syndrome102283, 611327, 93454Malformation syndrome
1394 Cerebrofaciothoracic dysplasia102283, 611327, 93454Malformation syndrome
2206 Ankylosing vertebral hyperostosis with tylosis93454Malformation syndrome
2482 Melhem-Fahl syndrome93454Malformation syndrome
2759 Imperforate oropharynx-costovertebral anomalies syndrome93454Malformation syndrome
2840 Pelvic dysplasia-arthrogryposis of lower limbs syndrome93454, 97120Malformation syndrome
1797 Autosomal dominant spondylocostal dysostosis93454Malformation syndrome
3456 Wildervanck syndrome139036, 183576, 93454Malformation syndrome
2062 Progressive non-infectious anterior vertebral fusion102285, 330206, 93454Malformation syndrome
85164 Camptodactyly-tall stature-scoliosis-hearing loss syndrome93420, 93454Disease
447974 Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome93454, 97245Malformation syndrome
505248 Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders101944, 102283, 156610, 611327, 93454Malformation syndrome
93455 Patellar dysostosis364559, 404568Category
2614 Nail-patella syndrome567562, 79370, 93455, 98638Malformation syndrome
1509 Coxopodopatellar syndrome93455Disease
86789 Isolated patella aplasia/hypoplasia109011, 93455Morphological anomaly
293150 Familial clubfoot due to PITX1 point mutation199315, 93455Etiological subtype
597749 KAT6B-related multiple congenital anomalies syndrome102283, 165707, 611327, 93455Clinical group
85201 Genitopatellar syndrome597749Malformation syndrome
597746 Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome177107, 597749Malformation syndrome
364568 Dysostosis with limb anomaly as a major feature364559Category
488434 Camptodactyly syndrome, Guadalajara type 3102283, 364568, 404571, 611327Malformation syndrome
3292 Tel Hashomer camptodactyly syndrome206634, 364568Malformation syndrome
498477 Ectrodactyly with and without other manifestations364568, 404571Category
1897 EEM syndrome498477, 716427, 79373Malformation syndrome
69085 Limb-mammary syndrome180173, 498477, 98609Malformation syndrome
1118 Fibular aplasia-ectrodactyly syndrome294957, 498477Malformation syndrome
1892 Ectrodactyly-polydactyly syndrome294959, 498477Malformation syndrome
1406 Charlie M syndrome102285, 139036, 183576, 2749, 330206, 498477Malformation syndrome
1986 Gollop-Wolfgang complex294955, 294957, 294959, 404574, 498477Malformation syndrome
978 ADULT syndrome139042, 183580, 294955, 404574, 498477, 98609Malformation syndrome
2440 Isolated split hand-split foot malformation498477Malformation syndrome
3329 Tibial aplasia-ectrodactyly syndrome139039, 294955, 294957, 404574, 498477Malformation syndrome
2439 Patterson-Stevenson-Fontaine syndrome139036, 183576, 364574, 498477Malformation syndrome
69028 Dysostosis with brachydactyly109009, 364568, 404571, 404577Category
498451 Dysostosis with brachydactyly without extraskeletal manifestations69028Category
1570 Symbrachydactyly of hands and feet498451Malformation syndrome
633211 Preaxial digit brachydactyly-webbed fingers498451Malformation syndrome
93396 Brachydactyly type A2498451Malformation syndrome
93394 Brachydactyly type A4498451Malformation syndrome
93397 Brachydactyly type A7498451Malformation syndrome
498602 Sugarman brachydactyly498451Morphological anomaly
2565 Mononen-Karnes-Senac syndrome498451Malformation syndrome
85169 Familial digital arthropathy-brachydactyly364820, 498451Malformation syndrome
1275 Brachydactyly-elbow wrist dysplasia syndrome498451, 93459Malformation syndrome
93388 Brachydactyly type A1498451Malformation syndrome
93383 Brachydactyly type B498451Malformation syndrome
140908 Brachydactyly type B293383Clinical subtype
572385 Brachydactyly type B193383Clinical subtype
93384 Brachydactyly type C498451Malformation syndrome
93387 Brachydactyly type E498451Malformation syndrome
1487 Cooks syndrome498451, 79370Malformation syndrome
1319 Camptobrachydactyly498451Malformation syndrome
498454 Dysostosis with brachydactyly with extraskeletal manifestations69028Category
589608 Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies139042, 498454, 79373, 79376Disease
166035 Brachydactyly-short stature-retinitis pigmentosa syndrome102283, 498454, 611327, 716405Malformation syndrome
238744 Mammary-digital-nail syndrome180170, 183731, 294955, 404574, 498454Malformation syndrome
1001 2q37 microdeletion syndrome102283, 262010, 498454, 611327Malformation syndrome
1276 Brachydactyly-arterial hypertension syndrome156629, 498454, 506213Malformation syndrome
1078 Thumb stiffness-brachydactyly-intellectual disability syndrome102283, 498454, 611327Malformation syndrome
1278 Brachydactyly-preaxial hallux varus syndrome498454Malformation syndrome
2956 Acrodysplasia scoliosis498454Malformation syndrome
1292 Brachymorphism-onychodysplasia-dysphalangism syndrome102283, 139021, 183570, 498454, 611327Malformation syndrome
1858 Skeletal dysplasia-epilepsy-short stature syndrome102283, 498454, 611327Malformation syndrome
52056 Ulnar/fibula ray defect-brachydactyly syndrome498454Malformation syndrome
2438 Hand-foot-genital syndrome102285, 180148, 330206, 498454Malformation syndrome
1295 Brachytelephalangy-dysmorphism-Kallmann syndrome102285, 181387, 330206, 498454Malformation syndrome
2911 Poland syndrome180193, 498454Malformation syndrome
93457 Non-syndromic limb reduction defect109011, 364568, 404571Category
498457 Non-syndromic longitudinal limb defect93457Category
2130 Non-syndromic hemimelia498457Clinical group
93320 Isolated ulnar hemimelia2130Morphological anomaly
93321 Isolated radial hemimelia2130Morphological anomaly
93322 Isolated tibial hemimelia2130Morphological anomaly
93323 Isolated fibular hemimelia2130Morphological anomaly
294988 Isolated hypoplasia of thumb498457Morphological anomaly
498461 Non-syndromic terminal transverse limb defect93457Category
294925 Non-syndromic amelia498461Clinical group
294967 Isolated amelia of upper limb294925Morphological anomaly
294969 Isolated amelia of lower limb294925Morphological anomaly
294971 Isolated tetra-amelia294925Morphological anomaly
973 Isolated absence/hypoplasia of fingers excluding thumb, unilateral498461Morphological anomaly
498491 Non-syndromic complete hemimelia498461Category
294981 Isolated absence of both lower leg and foot498491Morphological anomaly
294979 Isolated absence of both forearm and hand498491Morphological anomaly
294983 Isolated acheiria498461Morphological anomaly
294986 Isolated apodia498461Morphological anomaly
931 Isolated acheiropodia498461Morphological anomaly
294927 Non-syndromic intercalary limb defects93457Clinical group
294973 Isolated humeral agenesis/hypoplasia294927Morphological anomaly
294975 Isolated absence of upper arm and forearm with hand present294927Morphological anomaly
294977 Isolated absence of thigh and lower leg with foot present294927Morphological anomaly
1987 Isolated femoral agenesis/hypoplasia294927Morphological anomaly
633228 Isolated proximal femoral focal deficiency294927Morphological anomaly
667589 Isolated congenital femoral bifurcation294927Morphological anomaly
93458 Non-syndromic polydactyly, syndactyly and/or hyperphalangy109011, 364568, 404571Category
2913 Non-syndromic polydactyly93458Category
498464 Non-syndromic preaxial polydactyly2913Category
93336 Polydactyly of a triphalangeal thumb498464Morphological anomaly
93337 Polydactyly of an index finger498464Morphological anomaly
93338 Polysyndactyly498464Morphological anomaly
93339 Polydactyly of a biphalangeal thumb and/or hallux498464Morphological anomaly
498467 Non-syndromic postaxial polydactyly2913Category
93334 Postaxial polydactyly type A498467Morphological anomaly
93335 Postaxial polydactyly type B498467Morphological anomaly
498470 Non-syndromic complex polydactyly2913Category
295004 Central polydactyly498470Morphological anomaly
498494 Mirror-image polydactyly498470Morphological anomaly
90025 Non-syndromic syndactyly93458Category
2498 Syndactyly type 890025Morphological anomaly
93402 Syndactyly type 190025Morphological anomaly
295187 Zygodactyly type 193402Clinical subtype
295189 Zygodactyly type 293402Clinical subtype
295191 Zygodactyly type 393402Clinical subtype
295193 Zygodactyly type 493402Clinical subtype
93403 Syndactyly type 290025Morphological anomaly
295195 Synpolydactyly type 193403Clinical subtype
295197 Synpolydactyly type 293403Clinical subtype
295199 Synpolydactyly type 393403Clinical subtype
93404 Syndactyly type 390025Morphological anomaly
93405 Syndactyly type 490025Morphological anomaly
93406 Syndactyly type 590025Morphological anomaly
157801 Mesoaxial synostotic syndactyly with phalangeal reduction90025Morphological anomaly
295012 Syndactyly type 690025Morphological anomaly
295002 Isolated hyperphalangy93458Morphological anomaly
93459 Syndrome with synostosis or other joint formation defect109009, 364568, 404571, 404577Category
1228 Banki syndrome93459Malformation syndrome
1412 Tarsal-carpal coalition syndrome93459Malformation syndrome
2760 OSLAM syndrome183527, 68411, 93459Malformation syndrome
2900 Leri pleonosteosis93459Malformation syndrome
3237 Multiple synostoses syndrome90642, 93459Malformation syndrome
3246 Symphalangism with multiple anomalies of hands and feet294959, 93459Malformation syndrome
3250 Proximal symphalangism93459Malformation syndrome
3268 Radioulnar synostosis-microcephaly-scoliosis syndrome93459Malformation syndrome
71289 Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome477794, 93459Malformation syndrome
3466 WT limb-blood syndrome68383, 93459Disease
157808 Isolated pseudoarthrosis of the limbs109011, 364568, 404571Morphological anomaly
295018 Congenital pseudoarthrosis of the tibia157808Clinical subtype
295020 Congenital pseudoarthrosis of the femur157808Clinical subtype
295022 Congenital pseudoarthrosis of the fibula157808Clinical subtype
295024 Congenital pseudoarthrosis of the radius157808Clinical subtype
295026 Congenital pseudoarthrosis of the ulna157808Clinical subtype
199315 Familial clubfoot with or without associated lower limb anomalies109009, 364568, 404571, 404577Malformation syndrome
238578 Familial clubfoot due to 17q23.1q23.2 microduplication199315, 262968Etiological subtype
293144 Familial clubfoot due to 5q31 microdeletion199315Etiological subtype
228184 Heart-hand syndrome109009, 364568, 404571, 404577Category
294949 Non-syndromic joint formation defects109011, 364568, 404571Category
3248 Isolated distal symphalangism294949Morphological anomaly
3265 Isolated humero-radial synostosis294949Morphological anomaly
3266 Isolated humero-radio-ulnar synostosis294949Morphological anomaly
3269 Isolated radio-ulnar synostosis294949Morphological anomaly
94056 Isolated humero-ulnar synostosis294949Morphological anomaly
295028 Isolated tibio-fibular synostosis294949Morphological anomaly
294955 Syndrome with limb reduction defects109009, 364568Category
488232 Split-foot malformation-mesoaxial polydactyly syndrome102285, 294955, 294959, 330206, 404574, 79370, 90642Malformation syndrome
3320 Thrombocytopenia-absent radius syndrome294955, 404574, 477794Malformation syndrome
84 Fanconi anemia102283, 102285, 183422, 183466, 294955, 330206, 404574, 506213, 611327, 68383, 79375, 93614Malformation syndrome
3103 Roberts syndrome102283, 139039, 294955, 404574, 611327, 98648Malformation syndrome
988 Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome294955, 404574Malformation syndrome
989 Hypoglossia-hypodactyly syndrome102283, 139036, 183576, 2749, 294955, 404574, 611327Malformation syndrome
1112 Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome294955, 404574Malformation syndrome
1113 Aphalangy-syndactyly-microcephaly syndrome294955, 294959, 404574Malformation syndrome
1972 Lethal faciocardiomelic dysplasia294955, 404574, 459787, 471383Malformation syndrome
1988 Femoral-facial syndrome102285, 139039, 294955, 330206, 404574Malformation syndrome
2249 Ulna hypoplasia-intellectual disability syndrome102283, 294955, 404574, 611327Malformation syndrome
2307 IVIC syndrome294955, 404574, 522520, 98683Malformation syndrome
2310 Absence deformity of leg-cataract syndrome294955, 404574, 522548, 98641Malformation syndrome
2329 Karsch-Neugebauer syndrome294955, 404574Malformation syndrome
2564 Tetramelic monodactyly294955, 404574Malformation syndrome
2730 Postaxial tetramelic oligodactyly294955, 404574Malformation syndrome
2839 Pelvis-shoulder dysplasia294955, 404574Malformation syndrome
2854 Fuhrmann syndrome139039, 294955, 294959, 404574Malformation syndrome
2879 Phocomelia, Schinzel type294955, 404574Malformation syndrome
3016 Absent radius-anogenital anomalies syndrome294955, 404574Malformation syndrome
3021 RAPADILINO syndrome102285, 139039, 294955, 330206, 404574Malformation syndrome
3301 Tetraamelia-multiple malformations syndrome102285, 294955, 330206, 404574, 522548, 98641Malformation syndrome
3312 Thalidomide embryopathy251529, 294955Malformation syndrome
3328 Absent tibia-polydactyly-arachnoid cyst syndrome102285, 294955, 294959, 330206, 404574Malformation syndrome
3383 Humerus trochlea aplasia294955, 404574Malformation syndrome
71271 Split hand-split foot-deafness syndrome102285, 294955, 294959, 330206, 404574, 90642Malformation syndrome
93333 Pelviscapular dysplasia294955, 404574Malformation syndrome
329319 Thrombocythemia with distal limb defects248401, 294955, 404574Disease
1891 Intellectual disability-spasticity-ectrodactyly syndrome102283, 294955, 404574, 611327Malformation syndrome
2492 FATCO syndrome294955, 294959, 404574Malformation syndrome
508542 Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome102283, 169349, 294955, 404574, 611327, 86836Disease
221139 Combined immunodeficiency with facio-oculo-skeletal anomalies102283, 169349, 294955, 404574, 506219, 611327Disease
1326 Camptodactyly syndrome, Guadalajara type 2102285, 294955, 330206, 404574Malformation syndrome
294957 Dysostosis with combined reduction defects of upper and lower limbs109009, 364568, 404571, 404577Category
1121 Radial deficiency-tibial hypoplasia syndrome294957Malformation syndrome
1122 Ulnar hypoplasia-split foot syndrome294957Malformation syndrome
2019 Femur-fibula-ulna complex294957Malformation syndrome
294959 Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy109009, 364568, 404571, 404577Category
658805 Greig cephalopolysyndactyly-contiguous gene syndrome102285, 261911, 294959, 330206, 363250Malformation syndrome
567502 B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome102285, 165707, 229720, 294959, 330206Disease
85203 Acropectoral syndrome294959Malformation syndrome
93409 Brachydactyly-syndactyly, Zhao type294959Malformation syndrome
357332 Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome294959Malformation syndrome
369979 Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome294959Malformation syndrome
420584 Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome294959, 95495Malformation syndrome
957 Acropectorovertebral dysplasia182108, 294959Malformation syndrome
1003 Scalp defects-postaxial polydactyly syndrome183481, 294959, 79380Malformation syndrome
1388 Catel-Manzke syndrome102283, 139039, 294959, 611327Malformation syndrome
1757 Fibular dimelia-diplopodia syndrome294959Malformation syndrome
380 Greig cephalopolysyndactyly syndrome102285, 294959, 330206, 363250Malformation syndrome
2110 Hallux varus-preaxial polysyndactyly syndrome294959Malformation syndrome
2363 Lacrimoauriculodentodigital syndrome102285, 139042, 156246, 183580, 294959, 330206, 435606, 98609Malformation syndrome
2378 Laurin-Sandrow syndrome294959Malformation syndrome
2917 Polydactyly-myopia syndrome294959Malformation syndrome
2920 Oliver syndrome102283, 294959, 611327Malformation syndrome
2935 Crossed polysyndactyly294959Malformation syndrome
2947 Triphalangeal thumbs-brachyectrodactyly syndrome294959Malformation syndrome
2957 Guttmacher syndrome165707, 294959Malformation syndrome
3004 Mirror polydactyly-vertebral segmentation-limbs defects syndrome294959Malformation syndrome
3168 Sillence syndrome294959Malformation syndrome
3172 Eyebrow duplication-syndactyly syndrome294959Malformation syndrome
3255 Filippi syndrome102283, 294959, 611327Malformation syndrome
3258 Cenani-Lenz syndrome294959Malformation syndrome
3259 Syndactyly-polydactyly-ear lobe syndrome294959Malformation syndrome
476119 Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome294959, 79365Malformation syndrome
364198 Bipartite talus109011, 364568, 404571Morphological anomaly
364571 Dysostosis with limb and face anomalies as a major feature364568, 404571Category
2749 Oromandibular-limb hypogenesis syndrome156215, 364571Clinical group
141163 Glossopalatine ankylosis2749Malformation syndrome
199332 Endocrine-cerebro-osteodysplasia syndrome101960, 364571, 459787, 471383Malformation syndrome
364574 Acrofacial dysostosis364571Clinical group
949 Acrocraniofacial dysostosis102285, 330206, 364574Malformation syndrome
952 Acrofacial dysostosis, Weyers type102285, 139036, 183576, 330206, 364574, 79373Malformation syndrome
1131 X-linked mandibulofacial dysostosis102283, 139036, 183576, 364574, 611327Malformation syndrome
1784 Acrofrontofacionasal dysostosis364574Malformation syndrome
1786 Acrofacial dysostosis, Catania type102283, 139036, 183576, 364574, 611327Malformation syndrome
1788 Acrofacial dysostosis, Rodríguez type102283, 139036, 183576, 364574, 611327Malformation syndrome
1787 Acrofacial dysostosis, Palagonia type139036, 183576, 364574Malformation syndrome
64542 Acrofacial dysostosis, Kennedy-Teebi type139036, 183576, 364574Malformation syndrome
79113 Mandibulofacial dysostosis-microcephaly syndrome102283, 139036, 139039, 183576, 364574, 611327Malformation syndrome
3102 Richieri Costa-Pereira syndrome102285, 139039, 330206, 364574Malformation syndrome
2793 Otoonychoperoneal syndrome102285, 330206, 364568, 404571, 79370Malformation syndrome
3023 External auditory canal atresia-vertical talus-hypertelorism syndrome102285, 156243, 330206, 364568, 404571Malformation syndrome
1321 Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome102283, 364568, 611327Malformation syndrome
139021 Malformation syndrome with short stature93890Category
915 Aarskog-Scott syndrome102283, 139021, 165707, 183570, 611327Malformation syndrome
125 Bloom syndrome139021, 169346, 183422, 183490, 183570, 611314, 68347, 79390Disease
813 Silver-Russell syndrome102283, 139021, 183422, 183570, 519296, 611327, 641343Disease
96182 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7813, 98153Etiological subtype
231137 Silver-Russell syndrome due to 7p11.2p13 microduplication262749, 813Etiological subtype
231140 Silver-Russell syndrome due to an imprinting defect of 11p15813Etiological subtype
231144 Silver-Russell syndrome due to 11p15 microduplication262785, 813Etiological subtype
231147 Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11813, 98153Etiological subtype
397590 Silver-Russell syndrome due to a point mutation813Etiological subtype
1974 Autosomal recessive faciodigitogenital syndrome102285, 139021, 165707, 183570, 330206Malformation syndrome
2044 Floating-Harbor syndrome102283, 139021, 183570, 611327Malformation syndrome
2576 Mulibrey nanism139021, 183570Malformation syndrome
99741 King-Denborough syndrome102283, 139021, 183570, 466658, 611327, 97245, 98742Malformation syndrome
141333 Biemond syndrome type 2102283, 139021, 611327Disease
352712 Facial dysmorphism-immunodeficiency-livedo-short stature syndrome139021, 139027, 183570, 331217Disease
391677 Short stature-optic atrophy-Pelger-Huët anomaly syndrome139021, 183570, 441434Malformation syndrome
423306 Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome102283, 139021, 183570, 611327Malformation syndrome
1937 Eng-Strom syndrome139021, 183570Malformation syndrome
456298 1p35.2 microdeletion syndrome102283, 139021, 261857, 611327, 90642Malformation syndrome
457240 X-linked intellectual disability-short stature-overweight syndrome102283, 139021, 183570, 611327Malformation syndrome
457365 Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome102283, 139021, 183570, 611327Malformation syndrome
1964 Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome102283, 139021, 183466, 183570, 611327, 79375Malformation syndrome
480880 X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability102283, 139021, 183570, 611327Malformation syndrome
2183 Hydrocephalus-obesity-hypogonadism syndrome139021, 181441, 183570, 240371Malformation syndrome
2714 Oculo-palato-cerebral syndrome102283, 139021, 139039, 183570, 522548, 611327, 98641Malformation syndrome
494439 Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome102283, 139021, 183570, 611327, 716405, 90642Malformation syndrome
476406 Congenital generalized hypercontractile muscle stiffness syndrome139021, 183570, 284790, 476403Disease
902 Werner syndrome139021, 139027, 139033, 183422, 183570, 222628, 363245, 522548, 79389, 98641Disease
611216 Aplastic anemia-intellectual disability-dwarfism syndrome139021, 183570, 611314, 68383Disease
694946 Alazami-Yuan syndrome102283, 139021, 183570, 611327, 79365Malformation syndrome
686488 RNU4-2-related autosomal dominant neurodevelopmental disorder102283, 139021, 183570, 611327Malformation syndrome
633004 KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome102283, 139021, 183570, 611327Disease
659702 Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome102283, 139021, 183570, 611327Malformation syndrome
139024 Overgrowth/obesity syndrome93890Category
93460 Overgrowth syndrome139024, 183573Category
2128 Isolated hemihyperplasia156207, 183422, 93460Morphological anomaly
2849 Perlman syndrome183422, 319328, 93460Malformation syndrome
33445 Neuroectodermal melanolysosomal disease139027, 166466, 183466, 522520, 79375, 93460, 98683Malformation syndrome
93461 Chromosomal disease with overgrowth93460Category
1742 Trisomy 5p syndrome262725, 93461, 98642Malformation syndrome
96072 4p16.3 microduplication syndrome262716, 93461Malformation syndrome
314585 15q overgrowth syndrome102283, 262950, 611327, 93461, 98642Malformation syndrome
1707 Distal duplication 15q syndrome314585Etiological subtype
314588 Distal triplication 15q syndrome314585Etiological subtype
137634 Overgrowth-macrocephaly-facial dysmorphism syndrome102283, 611327, 93460Malformation syndrome
90307 Parkes Weber syndrome183478, 211266, 235832, 459537, 715466, 79379, 93460Disease
293964 Hypoinsulinemic hypoglycemia and body hemihypertrophy156638, 93460, 97978Disease
404443 Tatton-Brown-Rahman syndrome102283, 611327, 93460Malformation syndrome
300305 11p15.4 microduplication syndrome102283, 262785, 611327, 93460Malformation syndrome
404476 Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome319328, 506213, 93460Malformation syndrome
420179 Malan overgrowth syndrome102283, 611327, 93460Malformation syndrome
457359 Megalencephaly-severe kyphoscoliosis-overgrowth syndrome102283, 611327, 93460Malformation syndrome
530313 PIK3CA-related overgrowth syndrome93460Clinical group
60040 Megalencephaly-capillary malformation-polymicrogyria syndrome102283, 183422, 183478, 458830, 530313, 611327, 715453, 79379Malformation syndrome
314662 Segmental progressive overgrowth syndrome with fibroadipose hyperplasia530313Disease
295239 Macrodactyly of fingers, unilateral295044, 530313Clinical subtype
295243 Macrodactyly of toes, unilateral295047, 530313Clinical subtype
583097 Congenital infiltrating lipomatosis of the face530313Disease
168984 CLAPO syndrome530313, 715460Malformation syndrome
642675 CHD8 overgrowth syndrome102283, 611327, 93460Disease
240371 Syndromic obesity139024, 77828Category
819 Smith-Magenis syndrome102283, 180772, 240371, 261965, 611327Malformation syndrome
908 Fragile X syndrome102283, 166469, 180772, 240371, 306765, 522520, 611327, 98683Malformation syndrome
739 Prader-Willi syndrome102283, 181387, 240371, 399846, 611327, 641343, 98033Disease
98754 Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15739, 98153Etiological subtype
98793 Prader-Willi syndrome due to paternal 15q11q13 deletion262119, 739Etiological subtype
177901 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 198793Etiological subtype
177904 Prader-Willi syndrome due to paternal deletion of 15q11q13 type 298793Etiological subtype
177907 Prader-Willi syndrome due to translocation739Etiological subtype
177910 Prader-Willi syndrome due to imprinting mutation739Etiological subtype
192 Coffin-Lowry syndrome102283, 240371, 611327Malformation syndrome
193 Cohen syndrome102283, 240371, 331184, 611327, 716405Malformation syndrome
276630 Symptomatic form of Coffin-Lowry syndrome in female carriers102283, 240371, 611327Malformation syndrome
1435 Xq21 microdeletion syndrome240371, 716342, 90642Malformation syndrome
2563 MOMO syndrome240371Malformation syndrome
3459 Wilson-Turner syndrome102283, 240371, 611327Malformation syndrome
75858 MORM syndrome156165, 240371, 611314, 716405Disease
85282 MEHMO syndrome102283, 225700, 225703, 240371, 611327Malformation syndrome
261222 Distal 16p11.2 microdeletion syndrome240371, 261956Malformation syndrome
352530 Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome102283, 240371, 611327Disease
369950 Intellectual disability-seizures-macrocephaly-obesity syndrome102283, 240371, 263708, 611327Disease
397973 Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome102283, 240371, 611327Disease
398073 Prader-Willi-like syndrome102283, 181387, 240371, 399846, 611327, 98033Clinical group
633028 CPE-related Prader-Willi-like syndrome398073Disease
171829 6q16 microdeletion syndrome262047, 398073Disease
398079 SIM1-related Prader-Willi-like syndrome398073Disease
398069 Schaaf-Yang syndrome398073, 641343Disease
99704 Early-onset obesity-hyperphagia-severe developmental delay syndrome180772, 240371, 611314Disease
254516 Temple syndrome102283, 240371, 611327, 641343Malformation syndrome
96184 Temple syndrome due to maternal uniparental disomy of chromosome 14254516, 98153Etiological subtype
254525 Temple syndrome due to paternal 14q32.2 microdeletion254516, 262110Etiological subtype
254531 Temple syndrome due to paternal 14q32.2 hypomethylation254516Etiological subtype
521390 Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome100979, 240371, 611314Malformation syndrome
589905 PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome102283, 240371, 611327, 98033Disease
652487 Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome240371, 611314Malformation syndrome
293987 Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome101944, 156610, 240371Disease
620363 Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome183592, 240371, 309848, 611314, 93603Disease
600731 Clark-Baraitser syndrome102283, 240371, 611327Malformation syndrome
647799 MYT1L-related developmental delay-intellectual disability-obesity syndrome240371, 611314, 98033Disease
139027 Rare developmental defect with skin/mucosae involvement183530, 93890Category
100 Ataxia-telangiectasia139027, 166466, 169346, 183422, 183478, 252190, 485382, 519341, 522506, 522520, 611314, 79379, 95710, 98097, 98683Disease
191 Cockayne syndrome102283, 139027, 139033, 182070, 183422, 183500, 363245, 611327, 716405, 79389, 90642Disease
90321 Cockayne syndrome type 1191Clinical subtype
90322 Cockayne syndrome type 2191Clinical subtype
90324 Cockayne syndrome type 3191Clinical subtype
3440 Waardenburg syndrome102285, 139027, 183469, 330206, 79376, 90642Disease
895 Waardenburg syndrome type 23440Clinical subtype
113 Bazex-Dupré-Christol syndrome139027, 183487, 79386Disease
37 Acrodermatitis enteropathica104005, 139027, 309845, 363306, 79217, 79387Disease
1116 Aplasia cutis congenita-intestinal lymphangiectasia syndrome117569, 139027, 165655, 183481, 568044, 79380Disease
1117 Aplasia cutis-myopia syndrome139027, 183481, 716405, 79380Disease
1662 Restrictive dermopathy102283, 139027, 300766, 611327Disease
2272 Ichthyosis-oral and digital anomalies syndrome102285, 139027, 281244, 330206Malformation syndrome
2273 Ichthyosis follicularis-alopecia-photophobia syndrome139027, 281210, 481771, 79364Disease
2309 Pachyonychia congenita139027, 79370, 98353Disease
2959 Progeria-short stature-pigmented nevi syndrome139027, 139033, 363245, 79389Malformation syndrome
3455 Wiedemann-Rautenstrauch syndrome102283, 139027, 139033, 363245, 611327, 79389, 98305Malformation syndrome
2295 Familial articular hypermobility syndrome139027, 139030, 182222, 228215, 271870Disease
697356 Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome102283, 139027, 139042, 611327, 79359Malformation syndrome
257 Epidermolysis bullosa simplex with muscular dystrophy139027, 206644, 209196, 519288, 522558, 595351Disease
305 Junctional epidermolysis bullosa139027, 79361Clinical group
79403 Junctional epidermolysis bullosa with pyloric atresia305, 98027Disease
79404 Severe generalized junctional epidermolysis bullosa305, 519288, 522558, 98027Disease
79405 Junctional epidermolysis bullosa inversa305, 98027Disease
79406 Late-onset junctional epidermolysis bullosa305, 98027Disease
251393 Localized junctional epidermolysis bullosa305, 98027Disease
231556 Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome305, 611314, 98027Disease
306504 Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome264670, 264992, 305, 567562Disease
79402 Intermediate generalized junctional epidermolysis bullosa305, 98027Disease
303 Dystrophic epidermolysis bullosa139027, 79361Clinical group
79408 Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form303, 519288, 522558Disease
79409 Recessive dystrophic epidermolysis bullosa inversa303Disease
595356 Localized dystrophic epidermolysis bullosa303Disease
79410 Localized dystrophic epidermolysis bullosa, pretibial form595356Clinical subtype
158673 Localized dystrophic epidermolysis bullosa, acral form595356Clinical subtype
158676 Localized dystrophic epidermolysis bullosa, nails only595356Clinical subtype
79411 Self-improving dystrophic epidermolysis bullosa303Disease
89842 Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form303, 519288, 522558Disease
89843 Dystrophic epidermolysis bullosa pruriginosa303Disease
231568 Autosomal dominant generalized dystrophic epidermolysis bullosa303Disease
530 Lipoid proteinosis139027, 477808, 79381Malformation syndrome
79143 Isolated congenital anonychia139027, 79369Disease
90390 Anonychia-onychodystrophy syndrome79143Clinical subtype
94150 Anonychia congenita totalis79143Clinical subtype
79373 Ectodermal dysplasia syndrome139027, 183447, 79362Category
3200 Arthrogryposis-ectodermal dysplasia syndrome79373, 97120Malformation syndrome
464 Incontinentia pigmenti166466, 611314, 716459, 717348, 79373, 98027Malformation syndrome
477 KID syndrome281244, 307804, 519290, 522566, 79373, 90642, 98352Disease
189 Hidrotic ectodermal dysplasia522548, 79373, 98352, 98641Disease
1946 Amelocerebrohypohidrotic syndrome139042, 183580, 611314, 79373Malformation syndrome
1005 Alopecia-contractures-dwarfism-intellectual disability syndrome102283, 611327, 79373Malformation syndrome
1010 Autosomal dominant palmoplantar keratoderma and congenital alopecia79373, 98352Disease
1028 Amelo-onycho-hypohidrotic syndrome79373Malformation syndrome
1174 Cerebellar ataxia-ectodermal dysplasia syndrome79373Malformation syndrome
1262 Böök syndrome79373Malformation syndrome
1264 Tricho-retino-dento-digital syndrome522548, 716405, 79373, 98641Malformation syndrome
1366 Autosomal recessive palmoplantar keratoderma and congenital alopecia307804, 522548, 79373, 98641Disease
1375 Cataract-hypertrichosis-intellectual disability syndrome522548, 611314, 79365, 79373, 98641Malformation syndrome
1433 Choroidal atrophy-alopecia syndrome716299, 79373Malformation syndrome
1484 Contractures-ectodermal dysplasia-cleft lip/palate syndrome102283, 139039, 611327, 79373Malformation syndrome
1563 Dahlberg-Borer-Newcomer syndrome102285, 181402, 330206, 522548, 568044, 79373, 98641Malformation syndrome
1573 Hypotrichosis with juvenile macular degeneration716427, 79373Malformation syndrome
1657 Dermatoosteolysis, Kirghizian type79373Malformation syndrome
1660 Dermoodontodysplasia139042, 183580, 79373Malformation syndrome
2251 Thumb deformity-alopecia-pigmentation anomaly syndrome109009, 404577, 79373Malformation syndrome
1808 Hidrotic ectodermal dysplasia, Christianson-Fourie type79373Malformation syndrome
1809 Hidrotic ectodermal dysplasia, Halal type102283, 611327, 79373Malformation syndrome
1812 Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome102283, 611327, 79373Malformation syndrome
1882 Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome177107, 79373Malformation syndrome
1883 Ectodermal dysplasia-sensorineural deafness syndrome79373, 90642Malformation syndrome
1816 Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome102283, 611327, 79373Malformation syndrome
1818 Ectodermal dysplasia, trichoodontoonychial type139042, 183580, 79373Malformation syndrome
2026 Gingival fibromatosis-hypertrichosis syndrome139042, 183580, 79365, 79373Malformation syndrome
2036 Scalp-ear-nipple syndrome102285, 180173, 183481, 330206, 522548, 79373, 79380, 98641Malformation syndrome
2067 GAPO syndrome102283, 139042, 183580, 441434, 522564, 611327, 79373, 98623Malformation syndrome
2220 Hypertrichosis cubiti79365, 79373Malformation syndrome
2222 Hypertrichosis lanuginosa congenita79365, 79373Disease
1023 Congenital generalized hypertrichosis, Ambras type2222Clinical subtype
79495 X-linked congenital generalized hypertrichosis2222Clinical subtype
2228 Hypodontia-dysplasia of nails syndrome139042, 183580, 79373Malformation syndrome
2316 Johnson neuroectodermal syndrome102283, 611327, 79373Malformation syndrome
2561 Pyramidal molars-abnormal upper lip syndrome102285, 139042, 183580, 330206, 79373Malformation syndrome
2713 Oculoosteocutaneous syndrome522520, 79373, 98683Malformation syndrome
2718 Oculotrichodysplasia716393, 79373Malformation syndrome
2721 Odonto-onycho-dermal dysplasia139042, 183580, 307804, 79373Disease
2722 Odonto-onycho dysplasia-alopecia syndrome139042, 183580, 79373Malformation syndrome
2723 Odontotrichomelic syndrome139039, 139042, 183580, 79373Malformation syndrome
678 Papillon-Lefèvre syndrome139042, 183580, 307804, 309340, 674648, 79373Disease
2890 Pili torti-onychodysplasia syndrome79373Malformation syndrome
2892 Pilodental dysplasia-refractive errors syndrome139042, 183580, 79373Malformation syndrome
2930 Cronkhite-Canada syndrome104010, 79373Disease
3194 Corneodermatoosseous syndrome79373, 98628Malformation syndrome
3220 Deafness-enamel hypoplasia-nail defects syndrome139042, 183580, 79373, 90642Malformation syndrome
3231 Deafness-onychodystrophy syndrome102283, 522548, 611327, 79370, 79373, 90642, 98641Clinical group
79499 Autosomal dominant deafness-onychodystrophy syndrome3231Malformation syndrome
79500 DOORS syndrome3231Malformation syndrome
3236 Conductive deafness-ptosis-skeletal anomalies syndrome79373Malformation syndrome
3339 Oculoectodermal syndrome79373Malformation syndrome
3351 Trichodental syndrome139042, 183580, 79367, 79373Malformation syndrome
3353 Trichodermodysplasia-dental alterations syndrome139042, 183580, 79373Malformation syndrome
3355 Trichoodontoonychial dysplasia139042, 183580, 79373Malformation syndrome
3363 Trichomegaly-retina pigmentary degeneration-dwarfism syndrome102283, 611327, 716342, 79373Malformation syndrome
33364 Trichothiodystrophy281222, 399771, 522548, 611314, 79367, 79373, 98641Disease
50944 Schöpf-Schulz-Passarge syndrome139042, 183422, 183580, 307804, 79373Disease
69082 Odonto-tricho-ungual-digito-palmar syndrome139042, 183580, 79373Malformation syndrome
69083 Ectodermal dysplasia with natal teeth, Turnpenny type139042, 183580, 79373Malformation syndrome
69084 Pure hair and nail ectodermal dysplasia79373Malformation syndrome
69087 Naegeli-Franceschetti-Jadassohn syndrome183466, 79373, 79375, 98352Disease
69125 Anonychia with flexural pigmentation79370, 79373Malformation syndrome
79129 Trichodysplasia-amelogenesis imperfecta syndrome139042, 183580, 79373Malformation syndrome
86920 Dermatopathia pigmentosa reticularis183466, 79373, 79375, 98352Disease
98609 EEC syndrome and related disorders522532, 79373, 98602Category
99672 Fried's tooth and nail syndrome79373Malformation syndrome
99688 Dermotrichic syndrome79373Malformation syndrome
140936 Lelis syndrome79373Malformation syndrome
158668 Ectodermal dysplasia-skin fragility syndrome79373Disease
238468 Hypohidrotic ectodermal dysplasia79373, 98027, 98604Disease
181 X-linked hypohidrotic ectodermal dysplasia238468Etiological subtype
248 Autosomal recessive hypohidrotic ectodermal dysplasia238468Etiological subtype
1810 Autosomal dominant hypohidrotic ectodermal dysplasia238468Etiological subtype
247820 Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome79373Malformation syndrome
247827 Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome79373Malformation syndrome
307766 Curly hair-acral keratoderma-caries syndrome139042, 79373, 98352Disease
307936 Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome139042, 79373, 98353Disease
3253 Cleft lip/palate-ectodermal dysplasia syndrome139039, 611314, 79373Malformation syndrome
398166 Focal facial dermal dysplasia79373Malformation syndrome
1807 Focal facial dermal dysplasia type III398166Clinical subtype
79133 Focal facial dermal dysplasia type I398166Clinical subtype
398173 Focal facial dermal dysplasia type II398166Clinical subtype
398189 Focal facial dermal dysplasia type IV398166Clinical subtype
423454 Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome183466, 79373, 79375, 98357Disease
1401 CHAND syndrome156237, 79373Malformation syndrome
293165 Skin fragility-woolly hair-palmoplantar keratoderma syndrome307804, 434809, 79373Disease
2266 Hypotrichosis-intellectual disability, Lopes type102283, 611327, 79373Disease
447961 Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome140162, 183463, 307804, 481771, 77830, 79364, 79373, 79374, 98027Disease
685067 Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome102285, 330206, 79373, 98027Disease
98813 Hypohidrotic ectodermal dysplasia with immunodeficiency331217, 506219, 79373, 98027, 98604Disease
98249 Ehlers-Danlos syndrome139027, 139030, 182222, 228215, 619249Clinical group
285 Hypermobile Ehlers-Danlos syndrome98249Disease
286 Vascular Ehlers-Danlos syndrome285014, 98249Disease
536545 Kyphoscoliotic Ehlers-Danlos syndrome98249Disease
1900 Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency519296, 536545Clinical subtype
300179 Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency536545Clinical subtype
1899 Arthrochalasia Ehlers-Danlos syndrome98249Disease
1901 Dermatosparaxis Ehlers-Danlos syndrome98249Disease
75392 Periodontal Ehlers-Danlos syndrome98027, 98249Disease
536471 Spondylodysplastic Ehlers-Danlos syndrome98249Disease
75497 X-linked Ehlers-Danlos syndrome98249Disease
90354 Brittle cornea syndrome98249, 98628Disease
536516 Myopathic Ehlers-Danlos syndrome97242, 98249Disease
636941 Vascular Ehlers-Danlos-polymicrogyria syndrome98249Disease
289465 Isolated congenital adermatoglyphia139027Disease
438134 PCNA-related progressive neurodegenerative photosensitivity syndrome139027, 139033, 182070, 183422, 183500, 363245, 611314, 79389, 90642Disease
139030 Rare developmental defect with connective tissue involvement183530, 93890Category
79094 Grange syndrome102283, 102285, 139030, 330206, 611327Malformation syndrome
171719 Cutis laxa-Marfanoid syndrome139030, 284993Malformation syndrome
300284 Connective tissue disorder due to lysyl hydroxylase-3 deficiency139030, 182222, 619249, 90642Disease
314041 Marfanoid habitus-inguinal hernia-advanced bone age syndrome139030Malformation syndrome
697101 Fontaine progeroid syndrome139030, 139033, 182222, 619249, 79389Disease
2963 Progeroid syndrome, Petty type697101Clinical subtype
2095 Gorlin-Chaudhry-Moss syndrome697101Clinical subtype
139033 Progeroid syndrome93890Category
508 Donohue syndrome102285, 139033, 181368, 330206, 363245, 79365Malformation syndrome
528 Congenital generalized lipodystrophy102283, 139033, 181368, 363245, 611327, 98305Disease
696289 Congenital generalized lipodystrophy type 2528Clinical subtype
696242 PPARG-associated congenital generalized lipodystrophy528Clinical subtype
696206 Congenital generalized lipodystrophy type 3528Clinical subtype
696189 Congenital generalized lipodystrophy type 1528Clinical subtype
228429 Congenital generalized lipodystrophy type 4528Clinical subtype
2348 Familial partial lipodystrophy, Dunnigan type139033, 300763, 363245, 98306Disease
2985 Pseudoprogeria syndrome102283, 139033, 363245, 611327Malformation syndrome
2909 Rothmund-Thomson syndrome139033, 183490, 222628, 363245, 79390, 98649Disease
221008 Rothmund-Thomson syndrome type 12909Clinical subtype
221016 Rothmund-Thomson syndrome type 2183422, 2909Clinical subtype
79474 Atypical Werner syndrome139033, 300766, 363245Disease
276432 Ogden syndrome102283, 139033, 363245, 611327Malformation syndrome
363649 Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome139033, 363245, 79389, 90642, 98305Disease
363665 Acroosteolysis-keloid-like lesions-premature aging syndrome139033, 363245, 79389Disease
435953 Progeroid features-hepatocellular carcinoma predisposition syndrome139033, 140162, 363245Disease
659873 Wormian bones-micrognathia-abnormal dentition-progeroid syndrome102285, 139033, 139042, 330206, 363245Malformation syndrome
139036 Branchial arch or oral-acral syndrome93890Category
2213 Hypertelorism-microtia-facial clefting syndrome102283, 139036, 139039, 183576, 611327Malformation syndrome
2792 Otofaciocervical syndrome102283, 139036, 183576, 611327Malformation syndrome
231742 Epibulbar lipodermoid-preauricular appendage-polythelia syndrome139036, 183576Malformation syndrome
139042 Malformation syndrome with odontal and/or periodontal component93890, 98026Category
2720 Oculocerebral hypopigmentation syndrome, Preus type102283, 139042, 183580, 284811, 522548, 611327, 98641Malformation syndrome
576278 SATB2-associated syndrome102283, 139042, 156237, 611327, 77830Malformation syndrome
251028 SATB2-associated syndrome due to a chromosomal rearrangement262010, 576278Etiological subtype
576283 SATB2-associated syndrome due to a pathogenic variant576278Etiological subtype
627 Nance-Horan syndrome102283, 139042, 183580, 611327, 98649Malformation syndrome
1031 Enamel-renal syndrome139042, 183580, 506213, 93593Malformation syndrome
3196 Steroid dehydrogenase deficiency-dental anomalies syndrome101940, 139042, 183580Disease
1811 Odontomicronychial dysplasia139042, 79370Malformation syndrome
1873 Jalili syndrome139042, 183580, 716405Malformation syndrome
2010 Cleft palate-stapes fixation-oligodontia syndrome139042, 183580Malformation syndrome
2025 Gingival fibromatosis-facial dysmorphism syndrome102285, 139042, 183580, 330206Malformation syndrome
2027 Gingival fibromatosis-progressive deafness syndrome139042, 183580, 90642Malformation syndrome
2342 Haim-Munk syndrome139042, 183580, 307804, 309340Disease
2709 Oculodental syndrome, Rutherfurd type139042, 183580, 98628Malformation syndrome
2719 Oculocerebral hypopigmentation syndrome, Cross type102283, 139042, 183580, 284811, 522548, 611327, 98641Malformation syndrome
2724 Odontomatosis-aortae esophagus stenosis syndrome139042, 183580Malformation syndrome
2791 Otodental syndrome139042, 183580, 262092Malformation syndrome
2916 Postaxial polydactyly-dental and vertebral anomalies syndrome139042, 183580Malformation syndrome
2972 Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome139042, 183580Malformation syndrome
3184 Steatocystoma multiplex-natal teeth syndrome139042, 183460, 183580, 79372Malformation syndrome
3230 Deafness-oligodontia syndrome139042, 183580, 90642Malformation syndrome
562559 Anterior maxillary protrusion-strabismus-intellectual disability syndrome102283, 139042, 522520, 611327, 77830, 98683Malformation syndrome
3473 Zimmermann-Laband syndrome102283, 139042, 183580, 611327Malformation syndrome
99806 Oculootodental syndrome139042, 183580, 262092Malformation syndrome
180766 Malformative syndrome with dentinogenesis imperfecta139042, 77830Category
71267 Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome102283, 180766, 183580, 611327, 90642Malformation syndrome
401911 AXIN2-related polyposis104010, 139042Disease
684232 Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome102283, 139042, 166472, 183580, 611327Malformation syndrome
598603 Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome102283, 139042, 183580, 611327, 79365Malformation syndrome
155832 Rare head and neck malformation93890Category
1991 Cleft lip with or without cleft palate155832, 68329Clinical group
141291 Cleft lip and alveolus1991Morphological anomaly
199302 Isolated cleft lip1991Morphological anomaly
199306 Cleft lip/palate1991Morphological anomaly
2699 Median nodule of the upper lip155832Malformation syndrome
2014 Cleft palate155832, 68329Clinical group
99771 Bifid uvula2014Morphological anomaly
99772 Cleft velum2014Morphological anomaly
101023 Cleft hard palate2014Morphological anomaly
155878 Submucosal cleft palate2014Morphological anomaly
664372 Soft and hard cleft palate2014Morphological anomaly
1166 Congenital unilateral hypoplasia of depressor anguli oris155832Morphological anomaly
96333 Rare otorhinolaryngological malformation155832, 98036Category
155835 Cysts and fistulae of the face and oral cavity96333Category
93953 Familial thyroglossal duct cyst155835, 95718Morphological anomaly
141013 First branchial cleft anomaly155835Morphological anomaly
141022 Second branchial cleft anomaly155835Morphological anomaly
141030 Third branchial cleft anomaly155835Morphological anomaly
141037 Fourth branchial cleft anomaly155835Morphological anomaly
141046 Cervical dermoid cyst155835Morphological anomaly
141051 Facial dermoid cyst155835Morphological anomaly
141061 Commissural lip fistula155835Morphological anomaly
141064 Isolated lower lip fistula155835Morphological anomaly
141067 Cervicofacial fibrochondroma155835Morphological anomaly
141071 Isolated digestive duplication cyst of the tongue155835Morphological anomaly
141103 Nasal dermoid cyst155835Morphological anomaly
141219 Nasal dorsum fistula155835Morphological anomaly
155838 Pinnae fistula or cyst155835Morphological anomaly
156243 Pinnae and external auditory canal anomaly435603, 96333Category
83463 Microtia156243Morphological anomaly
93976 Anotia156243Morphological anomaly
141074 External auditory canal aplasia/hypoplasia156243Morphological anomaly
500188 X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome156243, 90642Malformation syndrome
156246 Nose and cavum anomaly96333Category
99141 Lymphedema-posterior choanal atresia syndrome156246, 2415, 289825, 435606Malformation syndrome
2250 Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome102285, 156246, 181387, 330206, 435606, 522548, 98641Disease
1200 Burn-McKeown syndrome102285, 156246, 330206, 435606, 90642Malformation syndrome
1252 Blepharonasofacial malformation syndrome102283, 156246, 435606, 611327Malformation syndrome
2695 Bifid nose141234, 156246, 435606Malformation syndrome
3026 Radial ray hypoplasia-choanal atresia syndrome156246, 435606, 522520, 98683Malformation syndrome
1134 Isolated arrhinia156246Malformation syndrome
137622 Intractable diarrhea-choanal atresia-eye anomalies syndrome156246, 363300, 435606, 73014Malformation syndrome
137914 Choanal atresia156246Morphological anomaly
137917 Choanal atresia, unilateral137914Clinical subtype
137920 Choanal atresia, bilateral137914Clinical subtype
141091 Polyrrhinia156246Malformation syndrome
141096 Supernumerary nostril156246Malformation syndrome
141099 Proboscis lateralis156246Malformation syndrome
141112 Nasal glial heterotopia156246, 98061Disease
162516 Isolated congenital nasal pyriform aperture stenosis156246Malformation syndrome
466695 Supratip dysplasia156246Morphological anomaly
589856 Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome102283, 156246, 177107, 181402, 435606, 611327, 90642Malformation syndrome
156249 Larynx anomaly96333Category
2373 Congenital laryngomalacia156249, 435609Malformation syndrome
2374 Isolated congenital laryngeal web156249, 435609Malformation syndrome
1202 Larynx atresia156249, 435609Malformation syndrome
2372 Laryngocele156249Malformation syndrome
2291 Congenital velopharyngeal incompetence156249, 435609Morphological anomaly
2808 Laryngeal abductor paralysis156249, 435609Malformation syndrome
137926 Primary laryngeal lymphangioma156249Malformation syndrome
137932 Congenital laryngeal palsy156249, 182086Malformation syndrome
137935 Airway infantile hemangioma156249, 210589Disease
141121 Congenital subglottic stenosis156249Malformation syndrome
141124 Congenital laryngeal cyst156249Morphological anomaly
156252 Tracheal anomaly96333Category
141127 Congenital tracheal stenosis156252, 435612Morphological anomaly
164004 Middle and/or inner ear anomaly96333Category
502318 Cochlear nerve deficiency164004Morphological anomaly
686556 Isolated congenital cholesteatoma of the middle ear164004Morphological anomaly
502305 Cochleovestibular malformation164004Morphological anomaly
162526 Isolated congenital auditory ossicle malformation164004Morphological anomaly
141229 Facial cleft155832, 68329Category
141234 Median facial cleft141229Clinical group
2006 Median cleft lip/mandible141234Morphological anomaly
141239 Median cleft of the upper lip and maxilla141234Morphological anomaly
141288 Midline cervical cleft141234Morphological anomaly
401942 Familial median cleft of the upper and lower lips141234, 414726Malformation syndrome
141253 Oblique facial cleft141229Clinical group
141258 Tessier number 4 facial cleft141253, 414726Morphological anomaly
141261 Tessier number 5 facial cleft141253Morphological anomaly
141265 Tessier number 6 facial cleft141253Morphological anomaly
155884 Coloboma of superior eyelid141253Morphological anomaly
155889 Coloboma of inferior eyelid141253Morphological anomaly
141269 Lateral facial cleft141229, 414726Clinical group
141276 Tessier number 7 facial cleft141269Morphological anomaly
155867 Paramedian facial cleft141229Clinical group
141242 Paramedian nasal cleft155867Morphological anomaly
156207 Macroglossia155832, 183583, 68329Category
2430 Congenital macroglossia156207Malformation syndrome
141145 Hemifacial hyperplasia156207Malformation syndrome
141148 Hemifacial myohyperplasia156207Malformation syndrome
156212 Hypoglossia/aglossia155832, 183583, 68329Category
141152 Isolated congenital hypoglossia/aglossia156212Morphological anomaly
563954 Isolated congenital hypoglossia141152Clinical subtype
563951 Isolated congenital aglossia141152Clinical subtype
156215 Oromandibular-limb anomalies syndrome156212Category
156224 Paralytic facial malformation155832, 183583, 68329Category
156237 Syndrome or malformation associated with head and neck malformations155832, 183583, 68329, 98036Category
458833 Common cystic lymphatic malformation156237, 2415Clinical group
79489 Macrocystic lymphatic malformation458833Malformation syndrome
79490 Microcystic lymphatic malformation458833Malformation syndrome
458792 Mixed cystic lymphatic malformation458833Malformation syndrome
1600 Monosomy 18q syndrome156237, 262146, 98642Malformation syndrome
718 Isolated Pierre Robin sequence156237Malformation syndrome
888 Van der Woude syndrome102285, 156237, 330206Malformation syndrome
1150 Arthrogryposis multiplex congenita-whistling face syndrome1037, 156237Malformation syndrome
1248 Maxillonasal dysplasia102285, 156237, 330206, 90642Malformation syndrome
2215 Multiple pterygium-malignant hyperthermia syndrome1037, 156237, 466658Malformation syndrome
2461 Marden-Walker syndrome102283, 1037, 156237, 611327Malformation syndrome
2952 Adducted thumbs-arthrogryposis syndrome, Christian type1037, 156237Malformation syndrome
2460 Van den Ende-Gupta syndrome102285, 1037, 156237, 330206Malformation syndrome
138044 Rare disease with Pierre Robin syndrome156237Category
138041 Pierre Robin syndrome associated with collagen disease138044, 363294Category
138047 Pierre Robin syndrome associated with a chromosomal anomaly138044, 363294Category
436003 Contractures-developmental delay-Pierre Robin syndrome102283, 138047, 262038, 611327Malformation syndrome
261323 21q22.11q22.12 microdeletion syndrome102283, 138047, 262173, 477794, 611327Malformation syndrome
138050 Pierre Robin syndrome associated with branchial archs anomalies138044, 363294Category
138055 Pierre Robin syndrome associated with bone disease138044, 363294Category
138059 Teratogenic Pierre Robin syndrome138044Category
1920 Toluene embryopathy138059, 251529Malformation syndrome
1923 Methimazole embryofetopathy138059, 251529Malformation syndrome
2209 Maternal phenylketonuria syndrome102283, 138059, 251535, 611327, 708881Malformation syndrome
2216 Maternal hyperthermia-induced birth defects138059, 251535Malformation syndrome
2305 Isotretinoin syndrome138059, 251529Malformation syndrome
1915 Fetal alcohol syndrome138059, 251529Malformation syndrome
295 Fetal parvovirus syndrome138059, 232035Malformation syndrome
1908 Aminopterin/methotrexate embryofetopathy138059, 251529Malformation syndrome
1909 Indomethacin embryofetopathy138059, 251529Malformation syndrome
1910 Fetal iodine syndrome138059, 238696, 251529Malformation syndrome
1911 Cocaine embryofetopathy138059, 251529Malformation syndrome
1918 Fetal minoxidil syndrome138059, 251529Malformation syndrome
1912 Fetal hydantoin syndrome138059, 370068Malformation syndrome
1913 Fetal trimethadione syndrome138059, 370068Malformation syndrome
1914 Vitamin K antagonist embryofetopathy138059, 251529Malformation syndrome
1917 Fetal methylmercury syndrome138059, 251529Malformation syndrome
1919 Phenobarbital embryopathy138059, 370068Malformation syndrome
485358 Propylthiouracil embryofetopathy138059, 251529Malformation syndrome
364577 Intellectual disability-brachydactyly-Pierre Robin syndrome102283, 138044, 363294, 611327Malformation syndrome
139039 Orofacial clefting syndrome156237Category
124 Diamond-Blackfan anemia139039, 183422, 611314, 68383, 79191Disease
1358 Carey-Fineman-Ziter syndrome102283, 139039, 611327, 97245Malformation syndrome
921 Abruzzo-Erickson syndrome102285, 139039, 165707, 330206Malformation syndrome
1226 Bamforth-Lazarus syndrome139039, 177107Malformation syndrome
1241 Bencze syndrome102285, 139039, 330206Malformation syndrome
1297 Branchio-oculo-facial syndrome102285, 139039, 330206Malformation syndrome
1512 Crane-Heise syndrome102283, 139039, 611327Malformation syndrome
2001 Cleft lip/palate-intestinal malrotation-cardiopathy syndrome102285, 139039, 330206Malformation syndrome
2003 Cleft lip/palate-deafness-sacral lipoma syndrome139039, 90642Malformation syndrome
2008 Acrocardiofacial syndrome102283, 139039, 611327Malformation syndrome
2013 Cleft palate-large ears-small head syndrome139039Malformation syndrome
2016 Cleft palate-lateral synechia syndrome102285, 139039, 330206Malformation syndrome
2075 Genitopalatocardiac syndrome102285, 139039, 330206, 98087Malformation syndrome
376 Gordon syndrome102285, 139039, 330206, 97120Malformation syndrome
2167 Holzgreve syndrome102285, 139039, 330206Malformation syndrome
2319 Juberg-Hayward syndrome102285, 139039, 330206Malformation syndrome
2328 Kapur-Toriello syndrome102283, 139039, 611327Malformation syndrome
2476 Dysraphism-cleft lip/palate-limb reduction defects syndrome139039Malformation syndrome
2511 Microbrachycephaly-ptosis-cleft lip syndrome102283, 139039, 522520, 611327, 98683Malformation syndrome
2521 Microcephaly-cleft palate-abnormal retinal pigmentation syndrome102283, 139039, 611327Malformation syndrome
2804 W syndrome102283, 139039, 611327Malformation syndrome
2825 PARC syndrome102285, 139039, 330206Malformation syndrome
2888 Pierre Robin syndrome-faciodigital anomaly syndrome139039Malformation syndrome
3104 Robin sequence-oligodactyly syndrome139039Malformation syndrome
3201 Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome102285, 139039, 330206Malformation syndrome
3424 Velo-facial-skeletal syndrome102285, 139039, 330206Malformation syndrome
3429 Verloove Vanhorick-Brubakk syndrome102285, 139039, 330206Malformation syndrome
3448 Weaver-Williams syndrome102283, 139039, 611327Malformation syndrome
477993 Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome102283, 139039, 183580, 611327Malformation syndrome
1415 Hardikar syndrome139039, 716342Malformation syndrome
2015 Cleft palate-short stature-vertebral anomalies syndrome102283, 139039, 611327Malformation syndrome
1779 Dysmorphism-cleft palate-loose skin syndrome139039Malformation syndrome
3263 Syngnathia-cleft palate syndrome139039Malformation syndrome
77300 Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome102285, 139039, 330206Malformation syndrome
140963 Bilateral microtia-deafness-cleft palate syndrome139039, 90642Malformation syndrome
168572 Native American myopathy139039, 466658, 97245Malformation syndrome
324601 X-linked cleft palate and ankyloglossia139039Malformation syndrome
660021 Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome102283, 139039, 611327Malformation syndrome
141214 Isolated congenital syngnathia156237Malformation syndrome
694956 Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome102283, 156237, 611327Malformation syndrome
68335 Rare chromosomal anomaly93890, 98053Category
1052 Mosaic variegated aneuploidy syndrome102283, 183422, 611327, 68335, 98638, 98642Malformation syndrome
96321 Polyploidy syndrome68335Category
3305 Tetraploidy syndrome96321Malformation syndrome
3376 Triploidy syndrome459787, 471383, 96321, 98642Malformation syndrome
98127 Autosomal anomaly syndrome68335Category
363203 Ring chromosome syndrome98127Category
96172 Ring chromosome 3 syndrome363203Malformation syndrome
96173 Ring chromosome 9 syndrome363203Malformation syndrome
96175 Ring chromosome 11 syndrome363203Malformation syndrome
96177 Ring chromosome 15 syndrome363203Malformation syndrome
96178 Ring chromosome 16 syndrome363203Malformation syndrome
251043 Ring chromosome 5 syndrome363203Malformation syndrome
1442 Ring chromosome 18 syndrome363203Malformation syndrome
1446 Ring chromosome 22 syndrome363203Malformation syndrome
1437 Ring chromosome 1 syndrome363203Malformation syndrome
1438 Ring chromosome 10 syndrome102283, 363203, 611327Malformation syndrome
1439 Ring chromosome 12 syndrome363203Malformation syndrome
1444 Ring chromosome 20 syndrome166469, 363203Malformation syndrome
1447 Ring chromosome 4 syndrome363203Malformation syndrome
1448 Ring chromosome 6 syndrome363203Malformation syndrome
1450 Ring chromosome 8 syndrome363203Malformation syndrome
1445 Ring chromosome 21 syndrome363203Malformation syndrome
1440 Ring chromosome 14 syndrome166469, 363203Malformation syndrome
1443 Ring chromosome 19 syndrome363203Malformation syndrome
1449 Ring chromosome 7 syndrome363203Malformation syndrome
1441 Ring chromosome 17 syndrome363203Malformation syndrome
96171 Ring chromosome 2 syndrome363203Malformation syndrome
98130 Autosomal trisomy syndrome98127Category
98131 Total autosomal trisomy syndrome98130Category
1703 Mosaic trisomy 14 syndrome98131Malformation syndrome
1692 Mosaic trisomy 1 syndrome98131Malformation syndrome
1698 Mosaic trisomy 12 syndrome98131Malformation syndrome
1706 Mosaic trisomy 15 syndrome98131Malformation syndrome
1708 Mosaic trisomy 16 syndrome98131Malformation syndrome
1711 Mosaic trisomy 17 syndrome98131Malformation syndrome
1723 Mosaic trisomy 2 syndrome98131Malformation syndrome
1724 Mosaic trisomy 20 syndrome98131Malformation syndrome
1747 Mosaic trisomy 7 syndrome98131Malformation syndrome
96059 Mosaic trisomy 4 syndrome98131Malformation syndrome
96060 Mosaic trisomy 5 syndrome98131Malformation syndrome
96061 Mosaic trisomy 8 syndrome98131Malformation syndrome
96063 Mosaic trisomy 10 syndrome98131Malformation syndrome
96068 Mosaic trisomy 22 syndrome98131Malformation syndrome
99776 Mosaic trisomy 9 syndrome98131Malformation syndrome
100071 Mosaic trisomy 3 syndrome98131Malformation syndrome
98132 Partial autosomal duplication/triplication syndrome98130Category
96055 Tetrasomy 21 syndrome98132Malformation syndrome
262191 Partial duplication of chromosome 1 syndrome98132Category
262833 Partial duplication of the long arm of chromosome 1 syndrome262191Category
250994 1q21.1 microduplication syndrome262833Malformation syndrome
261344 Trisomy 1q syndrome262833Malformation syndrome
264431 Partial duplication of the short arm of chromosome 1 syndrome262191Category
96069 Distal duplication 1p36 syndrome264431Malformation syndrome
262196 Partial duplication of chromosome 2 syndrome98132Category
262698 Partial duplication of the short arm of chromosome 2 syndrome262196Category
699850 2p25.3 microduplication syndrome262698, 611314Malformation syndrome
96070 Distal duplication 2p syndrome262698, 98642Malformation syndrome
262842 Partial duplication of the long arm of chromosome 2 syndrome262196Category
96094 Distal duplication 2q syndrome262842Malformation syndrome
294026 Syndactyly-nystagmus syndrome due to 2q31.1 microduplication262842Malformation syndrome
313947 2q23.1 microduplication syndrome102283, 262842, 611327Malformation syndrome
262201 Partial duplication of chromosome 3 syndrome98132Category
262707 Partial duplication of the short arm of chromosome 3 syndrome262201Category
96071 Distal duplication 3p syndrome262707Malformation syndrome
262851 Partial duplication of the long arm of chromosome 3 syndrome262201Category
96095 3q26 microduplication syndrome262851, 98642Malformation syndrome
251038 3q29 microduplication syndrome262851Malformation syndrome
262206 Partial duplication of chromosome 4 syndrome98132Category
262716 Partial duplication of the short arm of chromosome 4 syndrome262206Category
1738 Trisomy 4p syndrome262716Malformation syndrome
262860 Partial duplication of the long arm of chromosome 4 syndrome262206Category
96096 Distal duplication 4q syndrome262860Malformation syndrome
262211 Partial duplication/triplication of chromosome 5 syndrome98132Category
262725 Partial duplication/triplication of the short arm of chromosome 5 syndrome262211Category
3309 Tetrasomy 5p syndrome262725, 98642Malformation syndrome
329802 5p13 microduplication syndrome102283, 262725, 611327Malformation syndrome
262869 Partial duplication of the long arm of chromosome 5 syndrome262211Category
96097 Distal duplication 5q syndrome262869Malformation syndrome
99027 Adult-onset autosomal dominant leukodystrophy262869, 519341, 522506, 68356Disease
228415 5q35 microduplication syndrome262869Malformation syndrome
262628 Partial duplication of chromosome 6 syndrome98132Category
262740 Partial duplication of the short arm of chromosome 6 syndrome262628Category
1745 Distal duplication 6p syndrome262740Malformation syndrome
262878 Partial duplication of the long arm of chromosome 6 syndrome262628Category
96098 Distal duplication 6q syndrome262878Malformation syndrome
262633 Partial duplication of chromosome 7 syndrome98132Category
262749 Partial duplication of the short arm of chromosome 7 syndrome262633Category
96074 Distal duplication 7p syndrome262749Malformation syndrome
314034 7p22.1 microduplication syndrome102283, 262749, 611327Malformation syndrome
262887 Partial duplication of the long arm of chromosome 7 syndrome262633Category
96121 7q11.23 microduplication syndrome262887Malformation syndrome
261102 Distal 7q11.23 microduplication syndrome262887Malformation syndrome
262638 Partial duplication of chromosome 8 syndrome98132Category
262758 Partial duplication of the short arm of chromosome 8 syndrome262638Category
251076 8p23.1 duplication syndrome262758Malformation syndrome
264450 Trisomy 8p syndrome262758Malformation syndrome
262896 Partial duplication of the long arm of chromosome 8 syndrome262638Category
1752 Trisomy 8q syndrome262896Malformation syndrome
96100 Distal duplication 8q syndrome262896Malformation syndrome
228399 8q12 microduplication syndrome262896, 522520, 98683Malformation syndrome
262643 Partial duplication/triplication of chromosome 9 syndrome98132Category
262767 Partial duplication/triplication of the short arm of chromosome 9 syndrome262643Category
236 Trisomy 9p syndrome262767, 519286, 522568, 98642Malformation syndrome
3310 Tetrasomy 9p syndrome262767Malformation syndrome
262905 Partial duplication of the long arm of chromosome 9 syndrome262643Category
96101 Distal duplication 9q syndrome262905Malformation syndrome
96112 Non-distal duplication 9q syndrome262905Malformation syndrome
262648 Partial duplication of chromosome 10 syndrome98132Category
262776 Partial duplication of the short arm of chromosome 10 syndrome262648Category
171929 Trisomy 10p syndrome262776Malformation syndrome
262914 Partial duplication of the long arm of chromosome 10 syndrome262648Category
1695 Non-distal duplication 10q syndrome262914, 98642Malformation syndrome
1307 Distal limb deficiencies-micrognathia syndrome102283, 262914, 611327Malformation syndrome
96102 Distal duplication 10q syndrome262914, 98642Malformation syndrome
276422 10q22.3q23.3 microduplication syndrome262914Malformation syndrome
262653 Partial duplication of chromosome 11 syndrome98132Category
262785 Partial duplication of the short arm of chromosome 11 syndrome262653Category
262923 Partial duplication of the long arm of chromosome 11 syndrome262653Category
96103 Distal duplication 11q syndrome262923Malformation syndrome
289522 Microtriplication 11q24.1 syndrome102283, 262923, 611327Malformation syndrome
262658 Partial duplication/triplication of the short arm of chromosome 12 syndrome98132Category
1699 Trisomy 12p syndrome262658Malformation syndrome
262672 Partial duplication of chromosome 16 syndrome98132Category
262794 Partial duplication of the short arm of chromosome 16 syndrome262672Category
96078 16p13.3 microduplication syndrome262794Malformation syndrome
261204 16p11.2p12.2 microduplication syndrome262794Malformation syndrome
261243 16p13.11 microduplication syndrome262794Malformation syndrome
370079 Proximal 16p11.2 microduplication syndrome262794, 611314Malformation syndrome
485405 16p12.1p12.3 triplication syndrome102283, 262794, 611327Malformation syndrome
262959 Partial duplication of the long arm of chromosome 16 syndrome262672Category
96106 Distal duplication 16q syndrome262959Malformation syndrome
262677 Partial duplication of chromosome 17 syndrome98132Category
262803 Partial duplication of the short arm of chromosome 17 syndrome262677Category
1713 17p11.2 microduplication syndrome102283, 262803, 611327Malformation syndrome
101081 Charcot-Marie-Tooth disease type 1A262803, 65753Disease
217385 17p13.3 microduplication syndrome102283, 262803, 611327Malformation syndrome
261290 Trisomy 17p syndrome262803Malformation syndrome
262968 Partial duplication of the long arm of chromosome 17 syndrome262677Category
3379 Distal duplication 17q syndrome262968Malformation syndrome
139474 17q11.2 microduplication syndrome102283, 262968, 611327Malformation syndrome
217340 17q21.31 microduplication syndrome102283, 262968, 611327Malformation syndrome
261272 17q12 microduplication syndrome262968Malformation syndrome
477817 PMP22-RAI1 contiguous gene duplication syndrome102283, 140453, 262968, 611327Malformation syndrome
262682 Partial duplication/triplication of chromosome 18 syndrome98132Category
262812 Partial duplication/triplication of the short arm of chromosome 18 syndrome262682Category
1715 Trisomy 18p syndrome262812Malformation syndrome
3307 Tetrasomy 18p syndrome262812Malformation syndrome
262977 Partial duplication of the long arm of chromosome 18 syndrome262682Category
1716 Distal duplication 18q syndrome262977Malformation syndrome
262687 Partial duplication of chromosome 19 syndrome98132Category
262986 Partial duplication of the long arm of chromosome 19 syndrome262687Category
1717 Distal duplication 19q syndrome262986Malformation syndrome
447985 Partial duplication of the short arm of chromosome 19 syndrome262687Category
447980 19p13.3 microduplication syndrome102283, 447985, 611327Malformation syndrome
262692 Partial duplication of chromosome 20 syndrome98132Category
261318 Trisomy 20p syndrome262692Malformation syndrome
262995 Partial duplication of the long arm of chromosome 20 syndrome262692Category
96107 Distal duplication 20q syndrome262995Malformation syndrome
363659 20q11.2 microduplication syndrome102283, 262995, 611327Malformation syndrome
262932 Partial duplication of the long arm of chromosome 13 syndrome98132Category
1702 Non-distal duplication 13q syndrome262932Malformation syndrome
96105 Distal duplication 13q syndrome262932Malformation syndrome
262941 Partial duplication of the long arm of chromosome 14 syndrome98132Category
261229 14q11.2 microduplication syndrome262941Malformation syndrome
488280 14q32 duplication syndrome262941, 98274Disease
262950 Partial duplication of the long arm of chromosome 15 syndrome98132Category
238446 15q11q13 microduplication syndrome262950Malformation syndrome
263004 Partial duplication of the long arm of chromosome 22 syndrome98132Category
1727 22q11.2 duplication syndrome263004Malformation syndrome
96109 Distal duplication 22q syndrome263004Malformation syndrome
261337 Distal 22q11.2 microduplication syndrome263004Malformation syndrome
98152 Autosomal uniparental disomy syndrome98127Category
98153 Maternal uniparental disomy syndrome98152Category
96179 Maternal uniparental disomy of chromosome 2 syndrome98153Malformation syndrome
96180 Maternal uniparental disomy of chromosome 4 syndrome98153Malformation syndrome
96181 Maternal uniparental disomy of chromosome 6 syndrome98153Malformation syndrome
96183 Maternal uniparental disomy of chromosome 9 syndrome98153Malformation syndrome
96186 Maternal uniparental disomy of chromosome 20 syndrome98153Malformation syndrome
96187 Maternal uniparental disomy of chromosome 21 syndrome98153Malformation syndrome
96188 Maternal uniparental disomy of chromosome 22 syndrome98153Malformation syndrome
97678 Maternal uniparental disomy of chromosome 13 syndrome98153Malformation syndrome
251009 Maternal uniparental disomy of chromosome 1 syndrome98153Malformation syndrome
98154 Paternal uniparental disomy syndrome98152Category
96190 Paternal uniparental disomy of chromosome 5 syndrome98154Malformation syndrome
96191 Paternal uniparental disomy of chromosome 6 syndrome98154Malformation syndrome
96192 Paternal uniparental disomy of chromosome 7 syndrome98154Malformation syndrome
96194 Paternal uniparental disomy of chromosome 20 syndrome98154Malformation syndrome
96195 Paternal uniparental disomy of chromosome 21 syndrome98154Malformation syndrome
96334 Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14254519, 98154Etiological subtype
98795 Angelman syndrome due to paternal uniparental disomy of chromosome 1572, 98154Etiological subtype
99324 Paternal uniparental disomy of chromosome 13 syndrome98154Malformation syndrome
251004 Paternal uniparental disomy of chromosome 1 syndrome98154Malformation syndrome
329813 Mosaic genome-wide paternal uniparental disomy syndrome98152Malformation syndrome
102020 Autosomal monosomy syndrome98127Category
98141 Total autosomal monosomy syndrome102020Category
96123 Monosomy 22 syndrome98141Malformation syndrome
98142 Partial autosomal deletion syndrome102020Category
261766 Partial deletion of chromosome 1 syndrome98142Category
261857 Partial deletion of the short arm of chromosome 1 syndrome261766Category
293948 1p21.3 microdeletion syndrome180772, 261857, 611314Malformation syndrome
401986 1p31p32 microdeletion syndrome102283, 261857, 611327Malformation syndrome
262001 Partial deletion of the long arm of chromosome 1 syndrome261766Category
36367 Distal deletion 1q syndrome102283, 262001, 611327Malformation syndrome
238769 1q44 microdeletion syndrome262001Malformation syndrome
250989 1q21.1 microdeletion syndrome262001Malformation syndrome
250999 1q41q42 microdeletion syndrome262001Malformation syndrome
261771 Partial deletion of chromosome 2 syndrome98142Category
261866 Partial deletion of the short arm of chromosome 2 syndrome261771Category
261349 2p15p16.1 microdeletion syndrome261866Malformation syndrome
363680 2p13.2 microdeletion syndrome102283, 261866, 611327Malformation syndrome
369886 Homozygous 2p21 microdeletion syndrome261866Clinical group
238517 Hypotonia-cystinuria type 1 syndrome183592, 369886, 506213, 79166, 93603Clinical group
163690 Hypotonia-cystinuria syndrome238517Disease
163693 2p21 microdeletion syndrome238517Disease
238523 Atypical hypotonia-cystinuria syndrome238517Disease
369881 2p21 microdeletion syndrome without cystinuria369886Malformation syndrome
262010 Partial deletion of the long arm of chromosome 2 syndrome261771Category
228402 2q23.1 microdeletion syndrome102283, 166469, 262010, 611327Malformation syndrome
251014 2q31.1 microdeletion syndrome262010Malformation syndrome
251019 2q32q33 deletion syndrome102283, 262010, 611327Malformation syndrome
261776 Partial deletion of chromosome 3 syndrome98142Category
261875 Partial deletion of the short arm of chromosome 3 syndrome261776Category
435638 3p25.3 microdeletion syndrome261875, 611314Malformation syndrome
262019 Partial deletion of the long arm of chromosome 3 syndrome261776Category
1621 3q13 microdeletion syndrome262019Malformation syndrome
65286 3q29 microdeletion syndrome262019Malformation syndrome
695611 3q26q28 deletion syndrome102283, 262019, 611327Malformation syndrome
261781 Partial deletion of chromosome 4 syndrome98142Category
261884 Partial deletion of the short arm of chromosome 4 syndrome261781Category
262029 Partial deletion of the long arm of chromosome 4 syndrome261781Category
96145 Distal deletion 4q syndrome262029Malformation syndrome
238750 4q21 microdeletion syndrome262029Malformation syndrome
502437 4q25 proximal deletion syndrome102283, 262029, 611327Malformation syndrome
261786 Partial deletion of chromosome 5 syndrome98142Category
261893 Partial deletion of the short arm of chromosome 5 syndrome261786Category
262038 Partial deletion of the long arm of chromosome 5 syndrome261786Category
1627 Deletion 5q35 syndrome262038Malformation syndrome
261584 5q22 microdeletion syndrome102283, 104010, 262038, 611327Disease
314655 Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion262038, 438213Etiological subtype
261791 Partial deletion of chromosome 6 syndrome98142Category
261902 Partial deletion of the short arm of chromosome 6 syndrome261791Category
251046 6p22 microdeletion syndrome261902Malformation syndrome
262047 Partial deletion of the long arm of chromosome 6 syndrome261791Category
251056 6q25.2q25.3 microdeletion syndrome262047Malformation syndrome
261796 Partial deletion of chromosome 7 syndrome98142Category
261911 Partial deletion of the short arm of chromosome 7 syndrome261796Category
96126 Distal deletion 7p syndrome261911Malformation syndrome
262056 Partial deletion of the long arm of chromosome 7 syndrome261796Category
1636 Distal monosomy 7q36 syndrome262056Malformation syndrome
251061 7q31 microdeletion syndrome262056Malformation syndrome
254351 Distal 7q11.23 microdeletion syndrome262056Malformation syndrome
261801 Partial deletion of chromosome 8 syndrome98142Category
261920 Partial deletion of the short arm of chromosome 8 syndrome261801Category
251066 8p11.2 deletion syndrome261920Malformation syndrome
251071 8p23.1 microdeletion syndrome165707, 261920Malformation syndrome
262065 Partial deletion of the long arm of chromosome 8 syndrome261801Category
178303 8q22.1 microdeletion syndrome102285, 262065, 330206Malformation syndrome
284160 8q21.11 microdeletion syndrome102283, 262065, 611327Malformation syndrome
261806 Partial deletion of chromosome 9 syndrome98142Category
261929 Partial deletion of the short arm of chromosome 9 syndrome261806Category
1642 Distal deletion 9p syndrome261929, 325638, 98087Malformation syndrome
261112 Monosomy 9p syndrome261929Malformation syndrome
324313 9p13 microdeletion syndrome102283, 261929, 611327Malformation syndrome
262074 Partial deletion of the long arm of chromosome 9 syndrome261806Category
77301 Monosomy 9q22.3 syndrome262074, 522520, 98683Malformation syndrome
96147 Kleefstra syndrome due to 9q34 microdeletion166469, 261494, 262074Etiological subtype
401923 9q31.1q31.3 microdeletion syndrome102283, 262074, 611327Malformation syndrome
495818 9q33.3q34.11 microdeletion syndrome102283, 166469, 262074, 611327, 79370Malformation syndrome
531151 9q21.13 microdeletion syndrome262074, 611314Malformation syndrome
261811 Partial deletion of chromosome 10 syndrome98142Category
261938 Partial deletion of the short arm of chromosome 10 syndrome261811Category
1580 Distal deletion 10p syndrome261938Clinical group
687695 10p13-p14 deletion syndrome102283, 1580, 331220, 611327Malformation syndrome
687424 ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion1580, 694304Etiological subtype
284169 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion261938, 466943Clinical subtype
262083 Partial deletion of the long arm of chromosome 10 syndrome261811Category
79076 Juvenile polyposis of infancy262083, 2929Clinical subtype
1581 Non-distal deletion 10q syndrome262083, 522520, 98683Malformation syndrome
96148 Distal deletion 10q syndrome262083Malformation syndrome
276413 10q22.3q23.3 microdeletion syndrome262083Malformation syndrome
261816 Partial deletion of chromosome 11 syndrome98142Category
261947 Partial deletion of the short arm of chromosome 11 syndrome261816Category
52022 Potocki-Shaffer syndrome102283, 261947, 611327Malformation syndrome
262092 Partial deletion of the long arm of chromosome 11 syndrome261816Category
851 Paris-Trousseau thrombocytopenia262092, 98455Disease
444002 11q22.2q22.3 microdeletion syndrome102283, 262092, 611327Malformation syndrome
261826 Partial deletion of chromosome 16 syndrome98142Category
261956 Partial deletion of the short arm of chromosome 16 syndrome261826Category
88924 Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis156162, 261956, 506213, 93587Disease
98791 Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16232288, 261956, 611314Malformation syndrome
261197 Proximal 16p11.2 microdeletion syndrome261956Malformation syndrome
261211 16p11.2p12.2 microdeletion syndrome261956Malformation syndrome
261236 16p13.11 microdeletion syndrome261956Malformation syndrome
500055 Hao-Fountain syndrome due to 16p13.2 microdeletion261956, 643549Etiological subtype
262128 Partial deletion of the long arm of chromosome 16 syndrome261826Category
658540 16q22 deletion syndrome102283, 262128, 611327Malformation syndrome
261250 16q24.3 microdeletion syndrome262128Malformation syndrome
352629 16q24.1 microdeletion syndrome262128, 264683, 264992Disease
261831 Partial deletion of chromosome 17 syndrome98142Category
261965 Partial deletion of the short arm of chromosome 17 syndrome261831Category
640 Hereditary neuropathy with liability to pressure palsies140453, 261965Malformation syndrome
261257 Distal 17p13.3 microdeletion syndrome261965Malformation syndrome
319171 Distal 17p13.1 microdeletion syndrome102283, 261965, 611327Malformation syndrome
262137 Partial deletion of the long arm of chromosome 17 syndrome261831Category
529962 17q24.2 microdeletion syndrome102283, 262137, 611327Malformation syndrome
1597 Distal deletion 17q syndrome262137Malformation syndrome
261265 17q12 microdeletion syndrome262137Malformation syndrome
261279 17q23.1q23.2 microdeletion syndrome262137Malformation syndrome
261836 Partial deletion of chromosome 18 syndrome98142Category
261974 Partial deletion of the short arm of chromosome 18 syndrome261836Category
1598 Monosomy 18p syndrome261974, 98642Disease
262146 Partial deletion of the long arm of chromosome 18 syndrome261836Category
261841 Partial deletion of chromosome 19 syndrome98142Category
261983 Partial deletion of the short arm of chromosome 19 syndrome261841Category
96129 Distal deletion 19p syndrome261983Malformation syndrome
254346 19p13.12 microdeletion syndrome261983Malformation syndrome
357001 19p13.13 microdeletion syndrome102283, 261983, 611327Malformation syndrome
262155 Partial deletion of the long arm of chromosome 19 syndrome261841Category
217346 19q13.11 microdeletion syndrome102283, 262155, 611327Malformation syndrome
261846 Partial deletion of chromosome 20 syndrome98142Category
261992 Partial deletion of the short arm of chromosome 20 syndrome261846Category
261295 20p12.3 microdeletion syndrome261992Malformation syndrome
313781 20p13 microdeletion syndrome102283, 261992, 611327Malformation syndrome
262164 Partial deletion of the long arm of chromosome 20 syndrome261846Category
261304 Paternal 20q13.2q13.3 microdeletion syndrome262164Malformation syndrome
261311 20q13.33 microdeletion syndrome262164Malformation syndrome
444051 20q11.2 microdeletion syndrome102283, 262164, 611327Malformation syndrome
262101 Partial deletion of the long arm of chromosome 13 syndrome98142Category
96168 Monosomy 13q34 syndrome262101, 98642Malformation syndrome
412035 13q12.3 microdeletion syndrome102283, 262101, 611327, 79359Malformation syndrome
262110 Partial deletion of the long arm of chromosome 14 syndrome98142Category
96150 Distal deletion 14q syndrome262110Malformation syndrome
254528 Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion254519, 262110Etiological subtype
261120 14q11.2 microdeletion syndrome262110Malformation syndrome
261144 FOXG1 syndrome due to 14q12 microdeletion262110, 561854Clinical subtype
264200 14q22q23 microdeletion syndrome102285, 262110, 330206Malformation syndrome
401935 14q24.1q24.3 microdeletion syndrome102283, 262110, 611327Malformation syndrome
262119 Partial deletion of the long arm of chromosome 15 syndrome98142Category
1596 Distal deletion 15q syndrome262119Malformation syndrome
94064 Deafness-infertility syndrome262119, 399813, 90642Malformation syndrome
94065 15q24 microdeletion syndrome262119, 500163Etiological subtype
98794 Angelman syndrome due to maternal 15q11q13 deletion262119, 72Etiological subtype
199318 15q13.3 microdeletion syndrome102283, 166469, 262119, 611327, 98033Malformation syndrome
261183 15q11.2 microdeletion syndrome262119Malformation syndrome
261190 Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion262119, 652519Clinical subtype
262173 Partial deletion of the long arm of chromosome 21 syndrome98142Category
574 21q deletion syndrome262173, 98642Malformation syndrome
268261 DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion262173, 464306Etiological subtype
262182 Partial deletion of the long arm of chromosome 22 syndrome98142Category
662169 Phelan-McDermid syndrome due to 22q13.3 deletion262182, 48652Etiological subtype
261330 Distal 22q11.2 microdeletion syndrome262182Malformation syndrome
282124 Partial deletion of chromosome 12 syndrome98142Category
261821 Partial deletion of the long arm of chromosome 12 syndrome282124Category
96149 Distal deletion 12q syndrome261821Malformation syndrome
96160 Non-distal deletion 12q syndrome261821Malformation syndrome
289513 12q15q21 microdeletion syndrome261821, 697760Etiological subtype
316244 Partial deletion of the short arm of chromosome 12 syndrome282124Category
280325 Distal deletion 12p syndrome316244Malformation syndrome
313884 12p12.1 microdeletion syndrome316244, 530983Clinical subtype
263708 Complex chromosomal rearrangement syndrome98127Category
3306 Inverted duplicated chromosome 15 syndrome166469, 180772, 263708Malformation syndrome
96092 8p inverted duplication/deletion syndrome263708Malformation syndrome
96167 Recombinant 8 syndrome263708Malformation syndrome
98155 Sex-chromosome anomaly syndrome68335Category
98156 Sex-chromosome number anomaly syndrome98155Category
263714 X chromosome number anomaly syndrome98156Category
263717 X chromosome number anomaly with female phenotype syndrome263714Category
263723 Polysomy of X chromosome syndrome263717Category
11 Pentasomy X syndrome263723Malformation syndrome
9 Tetrasomy X syndrome263723, 399853, 400022, 485382, 95710Malformation syndrome
3375 Trisomy X syndrome263723, 399853, 400022, 485382, 95710Malformation syndrome
263720 X chromosome number anomaly with male phenotype syndrome263714Category
96263 48,XXXY syndrome102283, 165707, 263720, 325546, 611327, 98313Malformation syndrome
96264 49,XXXXY syndrome102283, 165707, 263720, 325546, 611327, 98313Malformation syndrome
263746 Y chromosome number anomaly syndrome98156Category
8 47,XYY syndrome263746Malformation syndrome
1772 45,X/46,XY mixed gonadal dysgenesis263746, 325546, 98074, 98313Malformation syndrome
99329 48,XYYY syndrome102283, 165707, 263746, 611327, 98313Malformation syndrome
99330 49,XYYYY syndrome102285, 263746, 330206Malformation syndrome
263749 X and Y chromosomal anomaly syndrome98156Category
10 48,XXYY syndrome102283, 165707, 263749, 325546, 611327Malformation syndrome
199310 Tetragametic chimerism syndrome263749, 325546, 325638Malformation syndrome
261534 49,XXXYY syndrome263749Malformation syndrome
98157 Sex-chromosome structural anomaly syndrome98155Category
98158 Chromosome Y structural anomaly syndrome98157Category
1646 Chromosome Y microdeletion syndrome399775, 98158Malformation syndrome
96325 Isochromosome Y syndrome98158Category
98797 Isochromosomy Yp syndrome96325Malformation syndrome
98798 Isochromosomy Yq syndrome96325Malformation syndrome
261529 Ring chromosome Y syndrome98158Malformation syndrome
98159 Chromosome X structural anomaly syndrome98157Category
96201 X small rings syndrome399853, 400022, 485382, 95710, 98159Malformation syndrome
263726 Partial deletion of chromosome X syndrome98159Category
263731 Partial deletion of the short arm of the chromosome X syndrome263726Category
1643 Xp22.3 microdeletion syndrome263731Malformation syndrome
85332 X-linked intellectual disability-retinitis pigmentosa syndrome263731, 611314, 716405Disease
261476 Xp21 deletion syndrome263731, 308993, 595337Disease
261501 Atypical Norrie disease due to Xp11.3 microdeletion263731Malformation syndrome
263756 Partial deletion of the long arm of chromosome X syndrome263726Category
86818 Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome102283, 182043, 263756, 567554, 611327Disease
456328 X-linked myotubular myopathy-abnormal genitalia syndrome207110, 263756, 595, 611314, 98087Disease
263768 Partial duplication of chromosome X syndrome98159Category
263775 Partial duplication of the short arm of chromosome X syndrome263768Category
217377 Microduplication Xp11.22p11.23 syndrome102283, 166469, 263775, 611327Malformation syndrome
284180 Xp22.13p22.2 duplication syndrome102283, 263775, 611327Malformation syndrome
263783 Partial duplication of the long arm of chromosome X syndrome263768Category
521258 Xq25 microduplication syndrome102283, 263783, 611327Malformation syndrome
1762 Proximal Xq28 duplication syndrome102283, 263783, 611327Malformation syndrome
261483 Xq27.3q28 duplication syndrome263783Malformation syndrome
293939 Distal Xq28 microduplication syndrome263783, 611314Malformation syndrome
314389 Xq12-q13.3 duplication syndrome180772, 263783Malformation syndrome
263793 Uniparental disomy of chromosome X syndrome98159Category
261519 Maternal uniparental disomy of chromosome X syndrome263793Malformation syndrome
261524 Paternal uniparental disomy of chromosome X syndrome263793Malformation syndrome
68341 Multiple congenital anomalies/dysmorphic syndrome93890Category
459787 Lethal multiple congenital anomalies/dysmorphic syndrome68341Category
633099 PAICS deficiency459787, 471383, 79191Malformation syndrome
1780 Thakker-Donnai syndrome459787, 471383Malformation syndrome
1895 Edinburgh malformation syndrome459787, 471383Malformation syndrome
1681 Diprosopus459787Morphological anomaly
210144 Lethal polymalformative syndrome, Boissel type459787, 471383Malformation syndrome
33108 Lethal multiple pterygium syndrome294060, 459787, 471383Malformation syndrome
2077 German syndrome109007, 2416, 459787, 471383Malformation syndrome
102283 Multiple congenital anomalies/dysmorphic syndrome-intellectual disability102369, 68341Category
464282 Spastic paraplegia-severe developmental delay-epilepsy syndrome100981, 102283, 166472, 611327Disease
496641 Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome102283, 166472, 182070, 183500, 441434, 611327Malformation syndrome
72 Angelman syndrome102283, 166469, 611327, 641343, 98033Malformation syndrome
411515 Angelman syndrome due to imprinting defect in 15q11-q1372Etiological subtype
411511 Angelman syndrome due to a point mutation72Etiological subtype
280679 Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome102283, 181441, 477771, 611327Disease
88618 S-adenosylhomocysteine hydrolase deficiency102283, 611327, 79173Disease
85285 X-linked intellectual disability, Schimke type102283, 611327Malformation syndrome
85288 X-linked intellectual disability, Stocco Dos Santos type102283, 611327Malformation syndrome
85320 X-linked intellectual disability-macrocephaly-macroorchidism syndrome102283, 611327Malformation syndrome
85323 X-linked intellectual disability, Seemanova type102283, 611327Disease
85324 X-linked intellectual disability, Shrimpton type102283, 611327Malformation syndrome
85297 X-linked spinocerebellar ataxia type 3102283, 247765, 611327Malformation syndrome
85327 X-linked intellectual disability-acromegaly-hyperactivity syndrome102283, 611327Disease
163956 X-linked intellectual disability, Nascimento type102283, 611327Disease
163971 X-linked intellectual disability, Cilliers type102283, 181441, 611327Disease
163976 X-linked intellectual disability, Van Esch type102283, 181441, 611327Malformation syndrome
163979 X-linked intellectual disability-craniofacioskeletal syndrome102283, 611327Disease
363528 Intellectual disability-strabismus syndrome102283, 522520, 611327, 98683Disease
369939 Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome102283, 370106, 611327, 90642Malformation syndrome
391372 FOXP1 Syndrome102283, 611327Malformation syndrome
435628 Keppen-Lubinsky syndrome102283, 611327, 98305, 98746Malformation syndrome
397951 Microcephaly-thin corpus callosum-intellectual disability syndrome102283, 611327Disease
404448 Helsmoortel-Van der Aa syndrome102283, 611327Malformation syndrome
404451 FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome102283, 611327Malformation syndrome
404473 Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome102283, 611327, 716446Malformation syndrome
411986 Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome102283, 166472, 519343, 522508, 611327Malformation syndrome
420561 Temple-Baraitser syndrome102283, 611327, 79370Disease
435938 X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome102283, 611327Malformation syndrome
436141 HIDEA syndrome102283, 522520, 611327, 98683Malformation syndrome
438213 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome102283, 611327Disease
438216 PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation438213Etiological subtype
439822 PDE4D haploinsufficiency syndrome102283, 611327Malformation syndrome
1246 Brachydactyly-nystagmus-cerebellar ataxia syndrome102283, 522520, 611327, 98683Malformation syndrome
52503 X-linked creatine transporter deficiency102283, 611327, 68385, 79172Disease
73246 Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome102283, 522520, 611327, 98683Malformation syndrome
83617 Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome102283, 183494, 229720, 611327, 79391Malformation syndrome
85273 X-linked intellectual disability, Abidi type102283, 611327Malformation syndrome
85274 Syndromic X-linked intellectual disability 7102283, 611327Malformation syndrome
85276 X-linked intellectual disability, Armfield type102283, 522548, 611327, 98641Malformation syndrome
85278 Christianson syndrome102283, 166478, 247765, 522520, 611327, 98683Malformation syndrome
85279 KDM5C-related syndromic X-linked intellectual disability102283, 166472, 611327Malformation syndrome
85280 X-linked intellectual disability-cubitus valgus-dysmorphism syndrome102283, 611327Malformation syndrome
85284 BRESEK syndrome102283, 611327Malformation syndrome
85286 X-linked intellectual disability, Shashi type102283, 611327Malformation syndrome
85287 X-linked intellectual disability, Siderius type102283, 611327Malformation syndrome
85293 X-linked intellectual disability, Cabezas type102283, 611327Malformation syndrome
85317 X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome102283, 611327Malformation syndrome
85319 X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome102283, 611327Malformation syndrome
85321 Deafness-intellectual disability syndrome, Martin-Probst type102283, 522548, 611327, 90642, 98641Malformation syndrome
85322 X-linked intellectual disability, Pai type102283, 611327Malformation syndrome
85325 X-linked intellectual disability, Stevenson type102283, 611327Malformation syndrome
85326 X-linked intellectual disability, Stoll type102283, 611327Malformation syndrome
85329 X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome102283, 611327Malformation syndrome
85335 Fried syndrome102283, 611327Malformation syndrome
94066 Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia102283, 611327Malformation syndrome
217017 Zechi-Ceide syndrome102283, 611327Malformation syndrome
221120 Pseudoaminopterin syndrome102283, 611327Malformation syndrome
228426 Syndromic multisystem autoimmune disease due to Itch deficiency101944, 102283, 156610, 169355, 182228, 522043, 611327Disease
254519 Kagami-Ogata syndrome102283, 611327, 641343Malformation syndrome
254534 Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation254519Etiological subtype
261494 Kleefstra syndrome102283, 611327Malformation syndrome
261652 Kleefstra syndrome due to a point mutation261494Etiological subtype
314575 Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome102283, 611327Malformation syndrome
314679 Cerebrofacioarticular syndrome102283, 611327Malformation syndrome
319182 Wiedemann-Steiner syndrome102283, 611327Malformation syndrome
324416 Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome102283, 611327Malformation syndrome
324540 Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome102283, 611327Malformation syndrome
329224 Schuurs-Hoeijmakers syndrome102283, 611327Malformation syndrome
352490 Autism spectrum disorder due to AUTS2 deficiency102283, 180772, 611327Disease
352577 Bainbridge-Ropers syndrome102283, 611327Disease
357175 Short ulna-dysmorphism-hypotonia-intellectual disability syndrome102283, 611327Malformation syndrome
363444 THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome102283, 611327Malformation syndrome
363611 CTCF-related neurodevelopmental disorder102283, 611327Disease
363686 Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome102283, 611327Disease
364028 X-linked intellectual disability due to GRIA3 mutations102283, 611327Disease
370010 Intellectual disability-facial dysmorphism-hand anomalies syndrome102283, 611327Malformation syndrome
370927 SSR4-CDG102283, 309347, 371071, 611327Disease
371364 Hypotonia-speech impairment-severe cognitive delay syndrome102283, 182070, 183500, 611327, 98738Disease
700333 Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency371364Clinical subtype
700336 Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency371364Clinical subtype
391307 Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome102283, 611327Malformation syndrome
397612 Macrocephaly-developmental delay syndrome102283, 611327Malformation syndrome
48652 Phelan-McDermid syndrome102283, 568047, 611327Malformation syndrome
662172 Phelan-McDermid syndrome due to SHANK3 mutation48652Etiological subtype
50810 Microlissencephaly-micromelia syndrome102283, 166478, 611327Malformation syndrome
50815 Branchiogenic deafness syndrome102283, 522520, 611327, 90642, 98683Malformation syndrome
436245 Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome102283, 611327, 716405Disease
99812 LIG4 syndrome102283, 183422, 480549, 611327Disease
289553 Dysmorphism-conductive hearing loss-heart defect syndrome102283, 611327, 90642Malformation syndrome
83472 CAMOS syndrome102283, 441434, 611327, 98095Malformation syndrome
79156 Seizures-intellectual disability due to hydroxylysinuria syndrome102283, 289832, 611327, 68385Disease
2058 Fryns-Smeets-Thiry syndrome102283, 611327Malformation syndrome
3078 Severe X-linked intellectual disability, Gustavson type102283, 441434, 611327Malformation syndrome
1514 Craniodigital-intellectual disability syndrome102283, 611327Malformation syndrome
1548 Cryptorchidism-arachnodactyly-intellectual disability syndrome102283, 522520, 611327, 98683Malformation syndrome
1825 Epiphyseal dysplasia-hearing loss-dysmorphism syndrome102283, 611327Malformation syndrome
2824 Paraplegia-intellectual disability-hyperkeratosis syndrome102283, 611327Malformation syndrome
2083 Prominent glabella-microcephaly-hypogenitalism syndrome102283, 611327Malformation syndrome
2107 Hall-Riggs syndrome102283, 611327Malformation syndrome
2115 Harrod syndrome102283, 522548, 611327, 98641Malformation syndrome
2136 Hennekam syndrome102283, 331217, 568044, 611327Malformation syndrome
2139 Hernández-Aguirre Negrete syndrome102283, 611327Malformation syndrome
2166 Holoprosencephaly-postaxial polydactyly syndrome102283, 611327Malformation syndrome
2172 Microcephaly-glomerulonephritis-marfanoid habitus syndrome102283, 611327Malformation syndrome
1051 Ramos-Arroyo syndrome102283, 611327, 716405, 90642Malformation syndrome
2234 Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome102283, 181441, 611327Malformation syndrome
2261 Hypospadias-intellectual disability, Goldblatt type syndrome102283, 165707, 611327Malformation syndrome
2282 Dysmorphism-short stature-deafness-difference of sex development syndrome102283, 325638, 611327, 98087Malformation syndrome
2323 Sanjad-Sakati syndrome102283, 181402, 611327Malformation syndrome
2429 Macrocephaly-spastic paraplegia-dysmorphism syndrome102283, 320346, 611327Malformation syndrome
2463 Marfanoid habitus-autosomal recessive intellectual disability syndrome102283, 611327Malformation syndrome
2471 McDonough syndrome102283, 522520, 611327, 98683Malformation syndrome
2489 Upper limb defect-eye and ear abnormalities syndrome102283, 522548, 611327, 98641Malformation syndrome
2533 Microcephaly-deafness-intellectual disability syndrome102283, 611327, 90642Malformation syndrome
2608 N syndrome102283, 183422, 611327, 90642Malformation syndrome
2617 Microcephalic primordial dwarfism, Montreal type102283, 611327Malformation syndrome
2743 Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome102283, 519347, 522522, 611327Malformation syndrome
2865 Short stature-webbed neck-heart disease syndrome102283, 611327Malformation syndrome
2871 Pfeiffer-Palm-Teller syndrome102283, 611327Malformation syndrome
2921 Preaxial polydactyly-colobomata-intellectual disability syndrome102283, 611327Malformation syndrome
2988 Pterygium colli-intellectual disability-digital anomalies syndrome102283, 611327Malformation syndrome
3038 Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome102283, 522520, 611327, 98683Malformation syndrome
3044 Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome102283, 181371, 181441, 183625, 611327Malformation syndrome
3079 Intellectual disability, Buenos-Aires type102283, 611327Malformation syndrome
3080 Intellectual disability, Wolff type102283, 611327Malformation syndrome
3121 Ruvalcaba syndrome102283, 611327Malformation syndrome
3132 Say-Barber-Miller syndrome101977, 102283, 611327Malformation syndrome
3199 Stimmler syndrome102283, 611327Malformation syndrome
3219 Fountain syndrome102283, 611327, 90642Malformation syndrome
3224 Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome102283, 165707, 611327, 90642Malformation syndrome
3242 Renpenning syndrome102283, 611327Malformation syndrome
93945 X-linked intellectual disability, Porteous type3242Clinical subtype
93946 Hamel cerebro-palato-cardiac syndrome3242Clinical subtype
93947 X-linked intellectual disability, Golabi-Ito-Hall type3242Clinical subtype
93950 X-linked intellectual disability, Sutherland-Haan type3242Clinical subtype
3293 Telecanthus-hypertelorism-strabismus-pes cavus syndrome102283, 522520, 611327, 98683Malformation syndrome
3304 Fallot complex-intellectual disability-growth delay syndrome102283, 611327Malformation syndrome
3409 Urban-Rogers-Meyer syndrome102283, 611327Malformation syndrome
1277 Brachydactyly-mesomelia-intellectual disability-heart defects syndrome102283, 611327Malformation syndrome
1778 Facial dysmorphism-shawl scrotum-joint laxity syndrome102283, 611327Malformation syndrome
3074 Intellectual disability-short stature-hypertelorism syndrome102283, 611327Malformation syndrome
3051 Nicolaides-Baraitser syndrome102283, 611327Malformation syndrome
1272 Aymé-Gripp syndrome102283, 522548, 611327, 98641Malformation syndrome
1129 Arachnodactyly-abnormal ossification-intellectual disability syndrome102283, 522520, 611327, 98683Malformation syndrome
1383 Cataract-deafness-hypogonadism syndrome102283, 522548, 611327, 90642, 98641Malformation syndrome
1123 Caudal appendage-deafness syndrome102283, 611327, 90642Malformation syndrome
3082 Intellectual disability-polydactyly-uncombable hair syndrome102283, 611327Malformation syndrome
3055 X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome102283, 281244, 522520, 611327, 98683Malformation syndrome
505237 Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome102283, 166472, 611327Malformation syndrome
544503 RNF13-related severe early-onset epileptic encephalopathy102283, 166472, 611327, 90642Disease
529965 Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome102283, 611327Malformation syndrome
506358 Gabriele-de Vries syndrome102283, 611327Malformation syndrome
562528 Congenital limbs-face contractures-hypotonia-developmental delay syndrome102283, 611327, 97120, 98738Malformation syndrome
500533 Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome102283, 166472, 611327Disease
500163 Witteveen-Kolk syndrome102283, 611327Malformation syndrome
500166 SIN3-related intellectual disability syndrome due to a point mutation500163Etiological subtype
457485 Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome102283, 611327Malformation syndrome
457279 Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome102283, 611327Malformation syndrome
1239 Behr syndrome102283, 207025, 522548, 611327, 98641Malformation syndrome
1236 Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome102283, 183518, 611327Malformation syndrome
2896 Pitt-Hopkins syndrome102283, 166472, 611327Malformation syndrome
502434 STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome102283, 611327Malformation syndrome
476126 Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome102283, 611327Malformation syndrome
480907 X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome102283, 611327Malformation syndrome
464306 DYRK1A-related intellectual disability syndrome102283, 611327Malformation syndrome
464311 Intellectual disability syndrome due to a DYRK1A point mutation464306Etiological subtype
464738 Basel-Vanagaite-Smirin-Yosef syndrome102283, 522548, 611327, 98641Malformation syndrome
2479 Megalocornea-intellectual disability syndrome102283, 519288, 522558, 611327Malformation syndrome
847 X-linked alpha-thalassemia-intellectual disability syndrome102283, 232288, 325638, 611327, 98087Malformation syndrome
2377 Laurence-Moon syndrome102283, 156183, 181387, 611327, 716342Malformation syndrome
776 Lujan-Fryns syndrome102283, 611327Malformation syndrome
1948 Epilepsy-microcephaly-skeletal dysplasia syndrome102283, 611327Malformation syndrome
1951 Epilepsy-telangiectasia syndrome102283, 166472, 611327Disease
990 Agnathia-holoprosencephaly-situs inversus syndrome102283, 611327Malformation syndrome
1110 Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome102283, 611327Malformation syndrome
1193 Atkin-Flaitz syndrome102283, 611327Malformation syndrome
1261 Bonnemann-Meinecke-Reich syndrome102283, 611327Malformation syndrome
1299 Branchioskeletogenital syndrome102283, 165707, 611327Malformation syndrome
1355 Congenital heart defect-round face-developmental delay syndrome102283, 611327Malformation syndrome
1387 Cataract-intellectual disability-hypogonadism syndrome102283, 181387, 522548, 611327, 98641Malformation syndrome
1389 Cortical blindness-intellectual disability-polydactyly syndrome102283, 519343, 522508, 611327Malformation syndrome
1184 Ataxia-photosensitivity-short stature syndrome102283, 183518, 611327Malformation syndrome
466943 WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome102283, 611327Malformation syndrome
466950 Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation466943Clinical subtype
468678 White-Sutton syndrome102283, 611327Disease
466791 Macrocephaly-intellectual disability-left ventricular non compaction syndrome102283, 611327Malformation syndrome
2233 Hypogonadism-mitral valve prolapse-intellectual disability syndrome102283, 181441, 611327Disease
642763 Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation102283, 611327Malformation syndrome
521426 PLAA-associated neurodevelopmental disorder102283, 441434, 611327Malformation syndrome
488627 Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome102283, 183466, 611327, 79375Malformation syndrome
488632 TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome102283, 611327Malformation syndrome
488642 TELO2-related intellectual disability-neurodevelopmental disorder102283, 519343, 522508, 611327Malformation syndrome
456312 Infantile multisystem neurologic-endocrine-pancreatic disease101937, 102283, 140459, 165661, 177107, 611327, 90642Disease
513456 Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome102283, 611327Disease
494344 RERE-related neurodevelopmental syndrome102283, 611327Malformation syndrome
487796 Takenouchi-Kosaki syndrome102283, 477794, 568047, 611327Malformation syndrome
487825 Pierpont syndrome102283, 611327Malformation syndrome
3010 Qazi-Markouizos syndrome102283, 522520, 611327, 97245, 98683Disease
647 Nijmegen breakage syndrome102283, 102285, 169346, 183422, 330206, 611327Malformation syndrome
1488 Cooper-Jabs syndrome102283, 611327Malformation syndrome
599082 CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome102283, 611327Malformation syndrome
1130 Arachnodactyly-intellectual disability-dysmorphism syndrome102283, 611327Malformation syndrome
1229 Pseudo-TORCH syndrome type 1102283, 611327Malformation syndrome
1399 Richards-Rundle syndrome102283, 183518, 611327, 90642Malformation syndrome
603684 KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome102283, 401993, 603699, 611327, 716405Malformation syndrome
1947 Northern epilepsy102283, 166472, 228354, 611327Clinical subtype
3085 Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome102283, 156165, 522548, 611327, 90642, 98641Malformation syndrome
2518 Autosomal recessive chorioretinopathy-microcephaly syndrome102283, 611327, 716342Malformation syndrome
1014 Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome102283, 481771, 611327, 79364Disease
352587 Focal epilepsy-intellectual disability-cerebro-cerebellar malformation102283, 166472, 166478, 611327Disease
2662 Keipert syndrome102283, 102285, 330206, 611327Malformation syndrome
2031 Hepatic fibrosis-renal cysts-intellectual disability syndrome101939, 102283, 156604, 611327, 93587Malformation syndrome
2101 Grubben-de Cock-Borghgraef syndrome102283, 519296, 611327Malformation syndrome
73223 Global developmental delay-osteopenia-ectodermal defect syndrome102283, 611327Malformation syndrome
2928 Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome102283, 611327Malformation syndrome
3063 X-linked intellectual disability, Snyder type102283, 611327Disease
530983 Lamb-Shaffer syndrome102283, 611327Disease
313892 Developmental and speech delay due to SOX5 deficiency530983Clinical subtype
544488 Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome102283, 289869, 611327, 68385Disease
2180 Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome102283, 611327Malformation syndrome
2306 Isotretinoin-like syndrome102283, 611327Malformation syndrome
603689 KLHL7-related Bohring-Opitz-like syndrome102283, 603699, 611327Malformation syndrome
2958 X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome102283, 611327Malformation syndrome
600668 CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome102283, 611327Disease
3052 X-linked intellectual disability-seizures-psoriasis syndrome102283, 522520, 611327, 98683Disease
457205 Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome102283, 182070, 183500, 441434, 611327, 91024Disease
457212 Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome102283, 306712, 307061, 611327Disease
2863 Short stature-wormian bones-dextrocardia syndrome102283, 611327Malformation syndrome
684216 Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome102283, 166472, 611327, 90642Malformation syndrome
684226 Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome102283, 611327Malformation syndrome
686482 BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome102283, 611327Malformation syndrome
686495 MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome101956, 102283, 183643, 611327Disease
685017 Combined immunodeficiency due to TBX1 deficiency102283, 331220, 611327Disease
689422 Okur-Chung neurodevelopmental syndrome102283, 611327Malformation syndrome
689397 Poirier-Bienvenu neurodevelopmental syndrome102283, 166472, 611327Malformation syndrome
689408 Shashi-Pena syndrome102283, 611327Malformation syndrome
692193 CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome102283, 611327Malformation syndrome
694304 ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome102283, 611327Disease
694308 ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation694304Etiological subtype
697760 Intellectual disability-nasal speech-craniofacial dysmorphism syndrome102283, 611327Malformation syndrome
697764 Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation697760Etiological subtype
697067 Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome102283, 611327Malformation syndrome
698085 Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome102283, 611327Malformation syndrome
698090 Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome102283, 611327Malformation syndrome
699835 Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome102283, 611327Malformation syndrome
700325 NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome102283, 611327Malformation syndrome
619233 Hereditary persistence of fetal hemoglobin-intellectual disability syndrome102283, 611327, 97992Disease
659975 Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome102283, 611327, 90642Malformation syndrome
662175 Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome102283, 611327Malformation syndrome
675775 Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome102283, 225707, 611327, 98274Disease
675782 Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN102283, 309340, 611327Disease
664430 Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome102283, 611327Malformation syndrome
662829 Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome102283, 331223, 611327Disease
652519 Cleft palate-congenital heart defect-intellectual disability syndrome102283, 611327Disease
652514 Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation652519Clinical subtype
653712 CHD4-related neurodevelopmental disorder102283, 611327Disease
653767 Jansen-de Vries syndrome102283, 611327Disease
656135 Intellectual disability-cupped ears syndrome102283, 611327Disease
658843 Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome102283, 611327Malformation syndrome
662198 Neurodevelopmental delay-intellectual disability-skeletal defects syndrome102283, 611327Malformation syndrome
662234 Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome102283, 611327Malformation syndrome
2983 Difference of sex development-intellectual disability syndrome102283, 325638, 611327, 98087Disease
3042 Intellectual disability-cataracts-calcified pinnae-myopathy syndrome102283, 522548, 611327, 98641Malformation syndrome
3177 Spinocerebellar degeneration-corneal dystrophy syndrome102283, 183518, 611327, 98628Malformation syndrome
2339 Keratosis follicularis-dwarfism-cerebral atrophy syndrome102283, 611327, 79359, 79360Malformation syndrome
3454 Wieacker-Wolff syndrome102283, 1037, 206634, 611327Malformation syndrome
2326 Kallmann syndrome-heart disease syndrome102283, 181387, 611327Malformation syndrome
2715 Severe oculo-renal-cerebellar syndrome102283, 522520, 567562, 611327, 716459, 717348, 98683Malformation syndrome
2135 Cutaneous mastocytosis-deafness-microtia syndrome102283, 611327Malformation syndrome
2557 Mietens syndrome102283, 522520, 611327, 98628, 98683Malformation syndrome
102285 Multiple congenital anomalies/dysmorphic syndrome without intellectual disability68341Category
2412 Dislocation of the hip-dysmorphism syndrome102285, 330206Malformation syndrome
2437 Czeizel-Losonci syndrome102285, 165707, 330206Malformation syndrome
2473 McKusick-Kaufman syndrome102285, 156162, 156183, 330206Malformation syndrome
2491 Müllerian duct anomalies-limb anomalies syndrome102285, 165707, 180148, 330206Malformation syndrome
2513 Microcephaly-albinism-digital anomalies syndrome102285, 330206Malformation syndrome
2674 Cyprus facial-neuromusculoskeletal syndrome102285, 206634, 330206, 522520, 522548, 98641, 98683Malformation syndrome
2832 Short tarsus-absence of lower eyelashes syndrome102285, 330206Malformation syndrome
2868 Short stature-valvular heart disease-characteristic facies syndrome102285, 330206Malformation syndrome
2876 PHAVER syndrome102285, 330206Malformation syndrome
2934 Polysyndactyly-cardiac malformation syndrome102285, 330206Malformation syndrome
2964 Autosomal dominant prognathism102285, 330206Malformation syndrome
2990 Autosomal recessive multiple pterygium syndrome102285, 294060, 330206Malformation syndrome
3241 Deafness-craniofacial syndrome102285, 330206, 90642Malformation syndrome
3368 Trigonocephaly-bifid nose-acral anomalies syndrome102285, 330206Malformation syndrome
1101 Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome102285, 330206Malformation syndrome
3439 Von Voss-Cherstvoy syndrome102285, 330206Malformation syndrome
50814 Craniolenticulosutural dysplasia102285, 330206, 522548, 98641Malformation syndrome
52047 Braddock syndrome102285, 275853, 330206, 519296Malformation syndrome
52429 Branchiootic syndrome102285, 330206, 90642Malformation syndrome
1655 Müllerian derivatives-lymphangiectasia-polydactyly syndrome102285, 165707, 330206, 568047Malformation syndrome
79107 Developmental malformations-deafness-dystonia syndrome102285, 330206, 370106, 522548, 90642, 98641Malformation syndrome
83619 Macrostomia-preauricular tags-external ophthalmoplegia syndrome102285, 330206Malformation syndrome
137776 Lethal congenital contracture syndrome type 2102285, 294965, 330206Malformation syndrome
137783 Lethal congenital contracture syndrome type 3102285, 294965, 330206Malformation syndrome
240760 Nijmegen breakage syndrome-like disorder102285, 169346, 183422, 330206Malformation syndrome
280558 Warsaw breakage syndrome102285, 183422, 330206Malformation syndrome
314002 Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome102285, 330206Malformation syndrome
1146 Distal arthrogryposis type 1102285, 330206, 97120, 98738Malformation syndrome
2053 Freeman-Sheldon syndrome102285, 330206, 97120, 98738Malformation syndrome
958 Acro-renal-mandibular syndrome102285, 330206Malformation syndrome
959 Acro-renal-ocular syndrome102285, 330206Malformation syndrome
991 PAGOD syndrome102285, 180148, 180779, 325109, 325638, 330206, 98087Malformation syndrome
1094 Anonychia-microcephaly syndrome102285, 330206Malformation syndrome
1104 Anophthalmia plus syndrome102285, 330206Malformation syndrome
1237 Beemer-Ertbruggen syndrome102285, 330206Malformation syndrome
1327 Camptodactyly syndrome, Guadalajara type 1102285, 330206Malformation syndrome
1338 Heart defect-tongue hamartoma-polysyndactyly syndrome102285, 330206Malformation syndrome
1373 Cataract-aberrant oral frenula-growth delay syndrome102285, 330206, 522548, 98641Malformation syndrome
1390 Night blindness-skeletal anomalies-dysmorphism syndrome102285, 330206Malformation syndrome
1529 Craniofacial-deafness-hand syndrome102285, 330206, 90642Malformation syndrome
1547 Cryptomicrotia-brachydactyly-excess fingertip arch syndrome102285, 330206Malformation syndrome
2007 Alar cartilages hypoplasia-coloboma-telecanthus syndrome102285, 330206Malformation syndrome
2064 Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome102285, 330206Malformation syndrome
2091 Multinodular goiter-cystic kidney-polydactyly syndrome102285, 330206Malformation syndrome
2994 Short stature-craniofacial anomalies-genital hypoplasia syndrome102285, 330206Malformation syndrome
2181 Hydrocephaly-tall stature-joint laxity syndrome102285, 330206Malformation syndrome
2211 Hypertelorism-hypospadias-polysyndactyly syndrome102285, 165707, 330206Malformation syndrome
2252 Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome102285, 165707, 330206Malformation syndrome
2353 Schilbach-Rott syndrome102285, 165707, 330206Malformation syndrome
2104 Dysmorphism-pectus carinatum-joint laxity syndrome102285, 330206Malformation syndrome
2835 Pectus excavatum-macrocephaly-dysplastic nails syndrome102285, 330206, 79370Malformation syndrome
1968 Flat face-microstomia-ear anomaly syndrome102285, 330206Malformation syndrome
1969 Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome102285, 330206Malformation syndrome
688581 Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome102285, 182043, 183592, 330206, 90642, 93603Malformation syndrome
647811 Cardiac-urogenital syndrome102285, 330206Disease
643503 Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome102285, 330206Disease
68378 Congenital limb malformation93890Category
109009 Syndrome with limb malformations as a major feature68378Category
1325 Camptodactyly-taurinuria syndrome109009, 404577Malformation syndrome
1927 Emery-Nelson syndrome109009, 404577Malformation syndrome
3294 Extensor tendons of finger anomalies109009, 404577Malformation syndrome
109007 Arthrogryposis syndrome109009, 404577Category
97120 Distal arthrogryposis109007Clinical group
65743 Autosomal dominant multiple pterygium syndrome294060, 97120Malformation syndrome
1147 Sheldon-Hall syndrome97120, 98738Malformation syndrome
1154 Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome97120Malformation syndrome
1144 Arthrogryposis-like hand anomaly-sensorineural deafness syndrome90642, 97120Malformation syndrome
3377 Trismus-pseudocamptodactyly syndrome97120Malformation syndrome
65720 Arthrogryposis-severe scoliosis syndrome97120Malformation syndrome
251515 Distal arthrogryposis type 1097120Malformation syndrome
329457 Distal arthrogryposis type 5D97120Disease
294060 Multiple pterygium syndrome109007Clinical group
79447 X-linked lethal multiple pterygium syndrome294060Malformation syndrome
294965 Lethal congenital contracture syndrome109007Clinical group
488586 Congenital amyoplasia109007Malformation syndrome
1037 Arthrogryposis multiplex congenita109007Clinical group
1143 Neurogenic arthrogryposis multiplex congenita1037Disease
1145 Infantile-onset X-linked spinal muscular atrophy1037, 404538Disease
1149 Kuskokwim syndrome1037Malformation syndrome
1485 Arthrogryposis-hyperkeratosis syndrome, lethal form1037Malformation syndrome
2680 Hypomyelination neuropathy-arthrogryposis syndrome1037Malformation syndrome
53696 Arthrogryposis-anterior horn cell disease syndrome1037Malformation syndrome
319332 Autosomal recessive myogenic arthrogryposis multiplex congenita1037, 97242Disease
210163 Congenital lethal myopathy, Compton-North type1037, 97245Disease
498693 MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome1037Disease
486811 Prenatal-onset spinal muscular atrophy with congenital bone fractures1037, 98505Disease
465824 Fetal encasement syndrome109009, 404577Malformation syndrome
109011 Non-syndromic limb malformation183536, 68378Category
294944 Congenital deformities of limbs109011Category
178382 Congenital vertical talus294944Morphological anomaly
295201 Congenital vertical talus, unilateral178382Clinical subtype
295203 Congenital vertical talus, bilateral178382Clinical subtype
294947 Congenital deformities of fingers294944Category
295014 Familial isolated clinodactyly of fingers294947Morphological anomaly
295016 Camptodactyly of fingers294947Morphological anomaly
294951 Congenital joint dislocations109011Category
295030 True congenital shoulder dislocation294951Morphological anomaly
295032 Isolated congenital radial head dislocation294951Morphological anomaly
295225 Congenital elbow dislocation, unilateral295032Clinical subtype
295227 Congenital elbow dislocation, bilateral295032Clinical subtype
295034 Congenital knee dislocation294951Morphological anomaly
295229 Congenital genu recurvatum295034Clinical subtype
295232 Congenital genu flexum295034Clinical subtype
295036 Congenital patella dislocation294951Morphological anomaly
294953 Non-syndromic limb overgrowth109011Category
295044 Macrodactyly of fingers294953Morphological anomaly
295241 Macrodactyly of fingers, bilateral295044Clinical subtype
295047 Macrodactyly of toes294953Morphological anomaly
295245 Macrodactyly of toes, bilateral295047Clinical subtype
295049 Upper limb hypertrophy294953Morphological anomaly
295051 Lower limb hypertrophy294953Morphological anomaly
295000 Amniotic band syndrome2416, 68378Malformation syndrome
68419 Rare vascular anomaly93890, 98028Category
211266 Fast-flow vascular malformation68419Category
715762 Unifocal fast-flow vascular malformation211266Clinical group
707944 Peripheral fast-flow vascular malformation715762Clinical group
708051 Peripheral congenital arteriovenous fistula707944Malformation syndrome
708007 Intramuscular fast-flow vascular anomaly707944Malformation syndrome
708046 Peripheral arteriovenous malformation707944Malformation syndrome
715744 Fast-flow vascular malformation of the central nervous system715762Clinical group
715750 Intracranial fast-flow vascular malformation715744Clinical group
46724 Brain arteriovenous malformation102006, 211240, 371436, 715750Morphological anomaly
715292 Brain pial arteriovenous fistula715750Disease
715318 Acquired intracranial dural arteriovenous fistula715750Disease
97339 Dural sinus malformation with arteriovenous shunt102006, 715750Morphological anomaly
692271 Cerebral proliferative angiopathy166487, 715750, 98022Disease
1053 Vein of Galen malformation102006, 211240, 371436, 715750Morphological anomaly
715025 Spinal fast-flow vascular malformation715744Clinical group
715284 Spinal cord arteriovenous malformation715025Morphological anomaly
715302 Spinal pial arteriovenous fistula715025Disease
715307 Acquired spinal dural arteriovenous fistula715025Morphological anomaly
715326 Spinal epidural arteriovenous malformation715025Morphological anomaly
715331 Paraspinal arteriovenous malformation715025Morphological anomaly
715757 Metameric fast-flow vascular malformation715762Clinical group
53721 Spinal arteriovenous metameric syndrome102006, 715757, 79379Malformation syndrome
141189 Cerebrofacial arteriovenous metameric syndrome102006, 715757Malformation syndrome
693855 Visceral arteriovenous malformation715762Clinical group
693846 Hepatic arteriovenous malformation101938, 506210, 693855Malformation syndrome
693839 Renal arteriovenous malformation506213, 693855, 93618Malformation syndrome
693832 Gastrointestinal tract arteriovenous malformation117569, 165711, 693855Malformation syndrome
693815 Uterine arteriovenous malformation101433, 693855Malformation syndrome
693872 Urinary tract arteriovenous malformation101433, 693855Malformation syndrome
714698 Arteriovenous malformation of the thoraco-abdominal-pelvic cavity715762Clinical group
714709 Mediastinal arteriovenous malformation714698Morphological anomaly
714726 Retroperitoneal arteriovenous malformation714698Morphological anomaly
714715 Pelvic arteriovenous malformation714698Morphological anomaly
714702 Abdominal arteriovenous malformation714698Morphological anomaly
137667 Capillary malformation-arteriovenous malformation211240, 211266, 506222, 536391, 715466Clinical group
693907 RASA1-related capillary malformation-arteriovenous malformation137667Malformation syndrome
693912 EPHB4-related capillary malformation-arteriovenous malformation137667Malformation syndrome
211252 Slow-flow malformation, venous type68419Category
715339 Multifocal peripheral venous malformation211252Clinical group
2451 Mucocutaneous venous malformations459548, 715339Malformation syndrome
714806 Multifocal sporadic venous malformation715339Morphological anomaly
83454 Glomuvenous malformation102006, 371436, 459548, 715334, 715339Malformation syndrome
140436 Familial intraosseous vascular malformation235832, 715339Disease
1059 Blue rubber bleb nevus140162, 183478, 459548, 715339, 79379Malformation syndrome
715334 Unifocal peripheral venous malformation211252Clinical group
714785 Unifocal sporadic venous malformation715334Morphological anomaly
715923 Intraosseous venous malformation715334Morphological anomaly
464318 Verrucous hemangioma458837, 715334Disease
699683 Fibro-adipose vascular anomaly715334Disease
217008 Segmental venous malformation715334, 79379Malformation syndrome
717564 Dural sinus malformation without arteriovenous shunt211252Malformation syndrome
714734 Sinus pericranii211252Morphological anomaly
221061 Familial cerebral cavernous malformation102006, 211252, 371436, 459548Malformation syndrome
211247 Rare capillary malformation68419Category
95429 Angioma serpiginosum183478, 211247, 79379Disease
624 Familial multiple nevi flammei183478, 211247, 459526, 79379Morphological anomaly
715446 Geographic pattern capillary malformation211247Clinical group
715460 Syndromic geographic pattern capillary malformation715446Clinical group
715345 Isolated geographic pattern capillary malformation715446Morphological anomaly
458830 Rare capillary malformation with associated anomalies211247, 459526Category
715453 Reticulated capillary malformation211247Clinical group
715353 Isolated reticulated capillary malformation715453Morphological anomaly
714737 Diffuse capillary malformation with overgrowth715453Morphological anomaly
715463 Low resistance capillary malformation211247Clinical group
715359 Isolated low resistance capillary malformation715463Morphological anomaly
715466 Syndromic low resistance capillary malformation715463Clinical group
1556 Cutis marmorata telangiectatica congenita211247, 79379Malformation syndrome
211255 Slow-flow malformation, lymphatic type68419Category
77240 Primary lymphedema211240, 211255, 68346, 89826Category
568041 Primary lymphedema without systemic or visceral involvement77240Category
2416 Congenital primary lymphedema without systemic or visceral involvement568041Clinical group
79452 Milroy disease2416Disease
569821 Congenital primary lymphedema of Gordon2416Disease
289825 Late-onset primary lymphedema without systemic or visceral involvement568041Clinical group
1414 Cholestasis-lymphedema syndrome156601, 289825, 57146Disease
90186 Meige disease289825Disease
569816 CELSR1-related late-onset primary lymphedema289825Disease
568051 GJC2-related late-onset primary lymphedema289825Disease
568044 Primary lymphedema with systemic or visceral involvement77240Category
568062 PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis568044Disease
568056 Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome140162, 183494, 331193, 568044, 79391Disease
662 Lymphedema with yellow nails264683, 568044, 79370Disease
69735 Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome567562, 568044Disease
86915 Lymphedema-atrial septal defects-facial changes syndrome568044Malformation syndrome
568047 Disorder with multisystemic involvement and primary lymphedema77240Category
742 Prolidase deficiency568047, 611314, 68385, 79187, 79387Disease
99807 PEHO-like syndrome166472, 568047Disease
2836 PEHO syndrome166472, 182070, 183500, 441434, 568047Disease
2415 Isolated rare lymphatic malformation211255Category
464321 Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome2415, 248347Disease
141209 Diffuse lymphatic malformation2415Malformation syndrome
464329 Kaposiform lymphangiomatosis2415Disease
717582 Coagulation abnormality associated with a vascular anomaly68419Clinical group
2330 Kasabach-Merritt phenomenon248308, 717582Particular clinical situation in a disease or syndrome
717585 Kasabach-Merritt-like phenomenon248308, 717582Particular clinical situation in a disease or syndrome
717593 Disseminated intravascular coagulation associated with a vascular anomaly717582Particular clinical situation in a disease or syndrome
717588 Localized intravascular coagulation717582Particular clinical situation in a disease or syndrome
458844 Rare vascular malformation of major vessels68419Category
981 Internal carotid absence102006, 458844Morphological anomaly
97598 Congenital renal artery stenosis458844, 506213, 93618Disease
698260 Carotid web458844Disease
494424 Extracranial carotid artery aneurysm458844Morphological anomaly
458837 Rare combined vascular malformation68419Clinical group
717611 Capillary-venous malformation458837Morphological anomaly
717605 Capillary-lymphatic malformation458837Morphological anomaly
717598 Lymphatic-venous malformation458837Malformation syndrome
717619 Capillary-lymphatic-venous malformation458837Morphological anomaly
211277 Complex vascular malformation with associated anomalies68419Category
86914 Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome211277Malformation syndrome
211237 Rare vascular tumor68419, 98057Category
673466 Malignant vascular tumor211237Clinical group
157791 Epithelioid hemangioendothelioma459543, 673466Disease
263413 Angiosarcoma3394, 673466Disease
673470 Benign vascular tumor211237Clinical group
1063 Tufted angioma459543, 673470Disease
71213 Retinal capillary malformation102006, 371436, 673470, 716450Disease
210584 Spindle cell hemangioma673470Disease
458775 Congenital hemangioma673470Clinical group
458785 Partially involuting congenital hemangioma458775Disease
141184 Rapidly involuting congenital hemangioma458775Disease
141179 Non-involuting congenital hemangioma458775Disease
675359 Anastomosing haemangioma459543, 673470Disease
675597 Acquired elastotic haemangioma673470Disease
675362 Hobnail hemangioma673470Disease
675369 Microvenular haemangioma673470Disease
675396 Epithelioid hemangioma459543, 673470Disease
673543 Papillary hemangioma673470Disease
673574 Reactive angioendotheliomatosis673470Disease
673568 Eccrine angiomatous hamartoma673470, 79386Disease
673538 Littoral cell hemangioma of the spleen673470Disease
673525 Intravascular papillary endothelial hyperplasia673470, 79386Disease
210589 Rare infantile hemangioma673470Clinical group
2123 Multifocal infantile hemangioma with extracutenous involvement210589Disease
675380 Isolated segmental infantile hemangioma210589Disease
673473 Borderline vascular tumor211237Clinical group
2122 Kaposiform hemangioendothelioma673473, 71209Disease
33276 Kaposi sarcoma102024, 3394, 673473Disease
458758 Composite hemangioendothelioma673473Disease
458763 Retiform hemangioendothelioma673473Disease
458768 Papillary intralymphatic angioendothelioma673473Disease
673556 Pseudomyogenic hemangioendothelioma459543, 673473Disease
211243 Simple vascular malformation68419Category
694228 Congenital intrahepatic arterioportal fistula101938, 211243Malformation syndrome
52662 Rare teratologic disease93890Category
232035 Infectious embryofetopathy52662, 68416Category
290 Congenital rubella syndrome166490, 232035, 98641Disease
858 Congenital toxoplasmosis163588, 166490, 232035Disease
291 Congenital varicella syndrome232035, 98641Disease
293 Congenital herpes simplex virus infection163585, 232035Disease
294 Fetal cytomegalovirus syndrome166490, 232035Disease
292 Congenital enterovirus infection232035Disease
70596 Congenital Epstein-Barr virus infection163585, 232035Disease
499009 Congenital syphilis232035Disease
251529 Toxic or drug-related embryofetopathy108999, 52662Category
1916 Diethylstilbestrol syndrome180065, 251529, 399882Malformation syndrome
40366 Acitretin/etretinate embryopathy251529Malformation syndrome
268249 Mycophenolate mofetil embryopathy251529Malformation syndrome
370068 Fetal anticonvulsant syndrome251529Clinical group
370076 Fetal carbamazepine syndrome370068Malformation syndrome
251535 Maternal disease-related embryofetopathy52662Category
83001 Urogenital tract malformation101433, 93890Category
165704 Non-syndromic urogenital tract malformation506213, 83001Category
182117 Non-syndromic urogenital tract malformation of female165704Category
180065 Non-syndromic uterovaginal malformation180062, 182117Category
73217 Müllerian aplasia156622, 180065, 183731Clinical group
180068 Partial bilateral aplasia of the Müllerian ducts73217Clinical group
247768 Müllerian aplasia and hyperandrogenism180068, 325109, 325638Malformation syndrome
180071 Unilateral aplasia of the Müllerian ducts73217Clinical group
180074 True unicornuate uterus180071Morphological anomaly
180079 Pseudounicornuate uterus180071Morphological anomaly
180122 Septate uterus180065, 399882Clinical group
180126 Complete septate uterus180122Morphological anomaly
180129 Partial septate uterus180122Morphological anomaly
180134 Bicornuate uterus180065Clinical group
180086 Didelphys uterus180134Morphological anomaly
180106 Bicervical bicornuate uterus and blind hemivagina180086Clinical subtype
180111 Bicervical bicornuate uterus with patent cervix and vagina180086Clinical subtype
180114 Unicervical bicornuate uterus180134Morphological anomaly
180139 Uterine hypoplasia180065Morphological anomaly
180142 Absence of uterine body180065, 399882Morphological anomaly
180145 Uterine cervical aplasia and agenesis180065, 399882Morphological anomaly
180151 Rare vaginal malformation182117, 96344, 98049Category
65681 Vaginal atresia180151Morphological anomaly
96269 Isolated partial vaginal agenesis180151Morphological anomaly
180154 Septate vagina180151Morphological anomaly
180157 Longitudinal vaginal septum180154Clinical subtype
180160 Transverse vaginal septum180154Clinical subtype
603515 Isolated female hypospadias182117Morphological anomaly
647794 Isolated persistent urogenital sinus182117Morphological anomaly
182121 Non-syndromic urogenital tract malformation of male165704Category
48 Congenital bilateral absence of vas deferens156622, 182121, 399998, 98343Morphological anomaly
2842 Penoscrotal transposition182121Morphological anomaly
49 Penile agenesis182121, 98085Morphological anomaly
227 Diphallia182121Morphological anomaly
95706 Non-syndromic posterior hypospadias156622, 182121Morphological anomaly
95707 Idiopathic isolated micropenis182121Morphological anomaly
696897 Congenital megaprepuce182121Morphological anomaly
495879 Congenital agenesis of the scrotum182121Morphological anomaly
182124 Non-syndromic urogenital tract malformation of male and female165704Category
165707 Syndromic urogenital tract malformation156622, 83001Category
1046 Lethal hemolytic anemia-genital anomalies syndrome165707, 182043Malformation syndrome
2487 Lower limb malformation-hypospadias syndrome165707Malformation syndrome
3341 Torticollis-keloids-cryptorchidism-renal dysplasia syndrome165707Malformation syndrome
90642 Rare syndromic genetic deafness68361, 93890, 96210Category
521445 Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome102006, 371436, 90642Malformation syndrome
171848 Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome207015, 352309, 716405, 90642Disease
171851 MEDNIK syndrome183438, 281238, 309839, 611314, 79355, 90642Disease
199343 EAST syndrome182083, 183518, 183592, 611314, 90642, 93603, 98746Disease
280406 Familial steroid-resistant nephrotic syndrome with sensorineural deafness35656, 567562, 90642Disease
293958 Hypertelorism-preauricular sinus-punctual pits-deafness syndrome90642Malformation syndrome
300333 Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome567562, 595351, 90642Disease
314404 Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome68354, 90642, 94145Disease
329336 Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy206966, 254767, 519347, 522522, 68385, 90642Disease
330029 Hypotrichosis-deafness syndrome308166, 481771, 79364, 79370, 90642Disease
330054 Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome206966, 2443, 522548, 611314, 90642, 98641Disease
352328 MEGDEL syndrome289902, 309136, 352306, 68385, 90642Disease
397744 MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome140465, 206650, 90642Disease
402041 Autosomal recessive distal renal tubular acidosis18, 90642Clinical subtype
411590 Wolfram-like syndrome181371, 183625, 441434, 90642Disease
445062 Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome181381, 183518, 183625, 90642Disease
448251 Progressive autosomal recessive ataxia-deafness syndrome90642Disease
637 Full NF2-related schwannomatosis506213, 522548, 634518, 90642, 98641Disease
649 Norrie disease522548, 611314, 716459, 717348, 90642, 98641Malformation syndrome
998 Albinism-deafness syndrome183469, 79376, 90642Malformation syndrome
999 Ermine phenotype90642Malformation syndrome
1000 Ocular albinism with late-onset sensorineural deafness284804, 90642Disease
705 Pendred syndrome177107, 90642Malformation syndrome
886 Usher syndrome156177, 716405, 90642Disease
231183 Usher syndrome type 3886Clinical subtype
231169 Usher syndrome type 1886Clinical subtype
231178 Usher syndrome type 2886Clinical subtype
3463 Wolfram syndrome181371, 183625, 441434, 90642Disease
2597 Mitochondrial myopathy-lactic acidosis-deafness syndrome206966, 254837, 90642Disease
1187 Lethal ataxia with deafness and optic atrophy247765, 611314, 79191, 90642Disease
1188 Ataxia-deafness-intellectual disability syndrome247765, 522520, 611314, 90642, 98683Malformation syndrome
1368 Cataract-ataxia-deafness syndrome183518, 522548, 90642, 98641Disease
1490 Corneal dystrophy-perceptive deafness syndrome90642, 98628Malformation syndrome
2202 Palmoplantar keratoderma-deafness syndrome90642, 98352Disease
494 Keratoderma hereditarium mutilans307773, 90642Disease
2405 Thickened earlobes-conductive deafness syndrome90642Malformation syndrome
3216 Conductive deafness-malformed external ear syndrome90642Malformation syndrome
631248 Mitchell Syndrome140453, 90642Disease
457351 Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome519343, 522508, 611314, 90642Malformation syndrome
2074 Gemignani syndrome90642, 98099Malformation syndrome
457223 Syndromic sensorineural deafness due to combined oxidative phosphorylation defect35696, 90642Disease
231720 Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome90642, 95495Malformation syndrome
182050 MYH9-related syndromic thrombocytopenia477794, 567562, 90642Disease
2589 Myoclonus-cerebellar ataxia-deafness syndrome183518, 90642Malformation syndrome
2668 Nephropathy-deafness-hyperparathyroidism syndrome90642Malformation syndrome
2690 Neutropenia-monocytopenia-deafness syndrome331184, 90642Disease
2698 Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome90642, 98352Disease
2732 Olivopontocerebellar atrophy-deafness syndrome90642Malformation syndrome
2815 Spastic paraparesis-deafness syndrome90642Malformation syndrome
2855 Perrault syndrome325109, 325638, 35696, 399877, 485382, 90642, 95710Disease
642945 Perrault syndrome type 12855Clinical subtype
642976 Perrault syndrome type 22855Clinical subtype
2866 Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome90642Malformation syndrome
3214 Deaf blind hypopigmentation syndrome, Yemenite type183469, 522520, 79376, 90642, 98683Malformation syndrome
3217 Deafness-small bowel diverticulosis-neuropathy syndrome90642Disease
3218 Deafness-epiphyseal dysplasia-short stature syndrome90642Malformation syndrome
69739 Athabaskan brainstem dysgenesis syndrome71859, 90642, 98006Disease
3225 Hearing loss-familial salivary gland insensitivity to aldosterone syndrome90642Malformation syndrome
3232 Deafness-ear malformation-facial palsy syndrome90642Malformation syndrome
3233 Cochleosaccular degeneration-cataract syndrome522548, 90642, 98641Malformation syndrome
3235 Progressive deafness with stapes fixation90642Malformation syndrome
3238 Cardiospondylocarpofacial syndrome90642Malformation syndrome
3239 Deafness-vitiligo-achalasia syndrome90642Malformation syndrome
1171 Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome441434, 90642, 94145Disease
3240 Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome314822, 611314, 696870, 90642Disease
42665 Tietz syndrome183469, 79376, 90642Malformation syndrome
49827 Thiamine-responsive megaloblastic anemia syndrome181381, 183625, 298644, 90642, 98362, 98415Disease
52368 Mohr-Tranebjaerg syndrome182070, 183500, 254834, 441434, 611314, 90642Disease
64747 X-linked Charcot-Marie-Tooth disease166, 611314, 90642Clinical group
99014 X-linked Charcot-Marie-Tooth disease type 5441434, 64747, 79191Disease
101075 X-linked Charcot-Marie-Tooth disease type 164747Disease
101076 X-linked Charcot-Marie-Tooth disease type 264747Disease
101077 X-linked Charcot-Marie-Tooth disease type 364747Disease
101078 X-linked Charcot-Marie-Tooth disease type 464747Disease
352675 X-linked Charcot-Marie-Tooth disease type 664747Disease
66633 Sensorineural hearing loss-early graying-essential tremor syndrome306712, 307061, 519296, 90642Disease
89938 Bartter syndrome type 4112, 506213, 90642Clinical subtype
90024 Deafness with labyrinthine aplasia, microtia, and microdontia90642Malformation syndrome
90103 Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome140459, 611314, 90642Malformation syndrome
90646 Deafness-hypogonadism syndrome181441, 90642Malformation syndrome
90658 Charcot-Marie-Tooth disease type 1E65753, 90642Disease
97229 Riboflavin transporter deficiency206704, 441434, 90642Malformation syndrome
572543 RFVT2-related riboflavin transporter deficiency183518, 97229Clinical subtype
572550 RFVT3-related riboflavin transporter deficiency97229Clinical subtype
139512 Neuropathy with hearing impairment140453, 90642Disease
140917 Stapes ankylosis with broad thumbs and toes90642Malformation syndrome
447954 Combined oxidative phosphorylation defect type 2535696, 68385, 90642Disease
456318 Hereditary sensory neuropathy-deafness-dementia syndrome140474, 276058, 90642, 98534Disease
494444 DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome477794, 90642Disease
542585 Auditory neuropathy-optic atrophy syndrome309136, 441434, 68385, 90642Disease
543470 Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome207018, 309136, 441434, 611314, 68385, 90642Disease
633014 SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome611314, 90642Disease
633021 SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome633014Clinical subtype
633024 SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome633014Clinical subtype
168569 H syndrome181371, 183466, 183625, 79375, 90642Malformation syndrome
652532 Adult-onset progressive leukoencephalopathy-early-onset deafness68356, 90642Disease
90771 Difference of sex development101433, 93890, 97978Category
2982 46,XX difference of sex development90771Category
98078 46,XX difference of sex development induced by androgens excess2982, 325620Category
90776 46,XX difference of sex development induced by fetal androgens excess325665, 325697, 98078Category
786 Generalized glucocorticoid resistance syndrome181412, 90776Disease
90791 Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency418, 90776, 90786Disease
90794 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency399584, 399849, 399994, 400018, 418, 90776Disease
315306 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form90794Clinical subtype
315311 Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form90794Clinical subtype
90795 Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency418, 90776Disease
95699 Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency418, 90776, 90786Disease
91144 46,XX difference of sex development induced by maternal-derived androgen98078Category
325093 46,XX difference of sex development induced by endogenous maternal-derived androgen91144Clinical group
325099 46,XX difference of sex development induced by exogenous maternal-derived androgen91144Clinical group
325061 46,XX difference of sex development induced by fetoplacental androgens excess325665, 325697, 98078Category
91 Aromatase deficiency163637, 325061, 399572, 399831, 399983, 400011, 485382, 95710Disease
325055 46,XX disorder of gonadal development2982, 325697Category
243 46,XX gonadal dysgenesis325055, 399877, 485382, 506213, 95710, 98074Malformation syndrome
2138 46,XX ovotesticular difference of sex development325055, 399877, 506213, 98074Malformation syndrome
393 46,XX testicular difference of sex development325055, 506213, 98313Malformation syndrome
444048 46,XX ovarian dysgenesis-short stature syndrome325055, 399877, 485382, 95710, 98074Disease
325109 Syndrome with 46,XX difference of sex development2982, 325697Category
2975 46,XX difference of sex development-skeletal anomalies syndrome325109, 325638Malformation syndrome
85112 Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome307804, 325109, 325638Disease
137631 Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome264665, 264992, 317416, 325109, 325638Disease
139466 SERKAL syndrome325109Malformation syndrome
98085 46,XY difference of sex development90771Category
98087 Syndrome with 46,XY difference of sex development325706, 98085Category
1770 XY type gonadal dysgenesis-associated anomalies syndrome325638, 506213, 98087Malformation syndrome
3097 Meacham syndrome180148, 325638, 98087Malformation syndrome
220 Denys-Drash syndrome183422, 325638, 567562, 98087Disease
347 Frasier syndrome183422, 325638, 567562, 98087Disease
95700 Familial adrenal hypoplasia with absent pituitary luteinizing hormone181390, 595337, 98087Disease
168563 46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome325638, 506213, 98087Malformation syndrome
168593 Sudden infant death-dysgenesis of the testes syndrome101944, 156610, 98087Malformation syndrome
494433 MIRAGE syndrome156643, 181412, 595337, 611314, 90692, 98087Disease
325118 46,XY disorder of gonadal development325706, 98085Category
242 46,XY complete gonadal dysgenesis325118, 506213, 98074Malformation syndrome
983 Testicular regression syndrome325118, 98313Morphological anomaly
251510 46,XY partial gonadal dysgenesis325118, 399877, 506213, 98074, 98313Malformation syndrome
325124 Testicular agenesis325118, 98313Morphological anomaly
325345 46,XY ovotesticular difference of sex development325118, 506213, 98074Disease
325351 46,XY difference of sex development of endocrine origin98085Category
754 Androgen insensitivity syndrome325351, 325632, 325713, 399685Clinical group
90797 Partial androgen insensitivity syndrome754Disease
99429 Complete androgen insensitivity syndrome754Disease
2856 Persistent Müllerian duct syndrome325351, 399824, 400003Malformation syndrome
325357 46,XY difference of sex development due to impaired androgen production325351, 325713, 506213Category
755 Leydig cell hypoplasia325357, 399685Disease
96265 Leydig cell hypoplasia due to complete LH resistance755Clinical subtype
96266 Leydig cell hypoplasia due to partial LH resistance755Clinical subtype
325448 Leydig cell hypoplasia due to LHB deficiency755Clinical subtype
90783 46,XY difference of sex development due to a testosterone synthesis defect325357Category
90786 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect325632, 90783Category
90790 Congenital lipoid adrenal hyperplasia due to STAR deficency399849, 400018, 418, 485382, 90786, 95710Disease
325524 Classic congenital lipoid adrenal hyperplasia due to STAR deficency90790Clinical subtype
325529 Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency399584, 399994, 90790Clinical subtype
90793 Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency399584, 399849, 399994, 400018, 418, 485382, 90786, 95710Disease
168558 46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency101960, 90786Disease
90787 46,XY difference of sex development due to testicular steroidogenesis defect325632, 90783Category
752 46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency399685, 399849, 400018, 90787Disease
90796 46,XY difference of sex development due to isolated 17,20-lyase deficiency90787Disease
325511 46,XY difference of sex development due to a cholesterol synthesis defect90783Category
98086 46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue325357, 325632Category
753 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency399685, 98086Disease
443090 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect325357Category
443087 46,XY difference of sex development due to testicular 17,20-desmolase deficiency443090Disease
325537 46,XY difference of sex development induced by maternal exposure to endocrine disruptors325351, 506213Category
325546 Sex chromosome difference of sex development325690, 90771Category
647916 Conjoined twins93890Malformation syndrome
68367 Rare inborn errors of metabolism98053Category
137 Congenital disorder of glycosylation68367Category
309347 Disorder of protein N-glycosylation137Category
79318 PMM2-CDG309347, 371071, 371157, 371200, 611314Disease
79319 MPI-CDG309347, 371157, 371188, 611314Disease
79320 ALG6-CDG309347, 371071, 371188, 611314Disease
79321 ALG3-CDG309347, 371071, 611314Disease
79324 ALG12-CDG309347, 371047, 611314Disease
79325 ALG8-CDG309347, 371047, 371157, 371188, 371207, 611314, 98644Disease
79326 ALG2-CDG309347, 371071, 371157, 611314, 98644Disease
79327 ALG1-CDG309347, 371071, 611314Disease
79328 ALG9-CDG309347, 371071, 371157, 611314Disease
79330 MOGS-CDG309347, 371071, 371157, 611314, 696870Disease
86309 DPAGT1-CDG309347, 371071, 611314Disease
280071 ALG11-CDG309347, 371071, 611314Disease
300536 DDOST-CDG309347, 371047, 371157, 611314Disease
324422 ALG13-CDG309347, 371071, 371157, 611314Disease
370921 STT3A-CDG309347, 371071, 611314Disease
370924 STT3B-CDG309347, 371071, 611314Disease
397941 MAN1B1-CDG309347, 371047, 611314Disease
697734 ST3GAL3-CDG309347Disease
695110 MAN2B2-CDG309347, 611314Disease
695783 EDEM3-CDG309347, 611314Disease
309447 Disorder of protein O-glycosylation137Category
309450 Disorder of O-xylosylglycan synthesis309447Category
466926 Seizures-scoliosis-macrocephaly syndrome309450, 371071, 611314Disease
480682 POGLUT1-related limb-girdle muscular dystrophy R21102015, 309450Disease
309458 Disorder of O-N-acetylgalactosaminylglycan synthesis309447Category
309463 Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis309447Category
309469 Disorder of O-mannosylglycan synthesis309447Category
34515 FKRP-related limb-girdle muscular dystrophy R9102015, 207119, 309469, 371047Disease
86812 POMT1-related limb-girdle muscular dystrophy R11102015, 209030, 309469, 371047, 611314Disease
206559 POMT2-related limb-girdle muscular dystrophy R14102015, 209033, 309469, 371047, 611314Disease
206564 POMGNT1-related limb-girdle muscular dystrophy R15102015, 209024, 309469, 371047Disease
352479 ISPD-related limb-girdle muscular dystrophy R20102015, 207113, 309469, 371047, 611314Disease
363623 GMPPB-related limb-girdle muscular dystrophy R19102015, 309469, 371047, 611314Disease
370959 Congenital muscular dystrophy with cerebellar involvement309469, 370953, 371047, 611314Disease
370968 Congenital muscular dystrophy with intellectual disability309469, 370953, 371047, 611314Disease
370980 Congenital muscular dystrophy without intellectual disability309469, 370953, 371047Disease
445110 Limb-girdle muscular dystrophy due to POMK deficiency102015, 207113, 309469, 68385Disease
309505 Disorder of fucoglycosan synthesis309447Category
79145 Dowling-Degos disease183466, 309505, 371200, 79375Disease
309515 Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation137Category
401820 Autosomal recessive spastic paraplegia type 67100981, 309515Disease
370933 GM3 synthase deficiency309515, 352306, 371071, 371200, 611314Disease
397922 Ferro-cerebro-cutaneous syndrome101939, 101940, 156604, 182070, 183500, 309515Disease
447 Paroxysmal nocturnal hemoglobinuria158300, 164823, 182047, 309515Disease
83639 Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency248361, 309515, 371071Disease
488635 Early-onset epilepsy-intellectual disability-brain anomalies syndrome309515, 371071, 611314Disease
309526 Disorder of multiple glycosylation137Category
602 GNE myopathy206653, 206662, 209203, 309526, 371047, 477794Disease
79322 DPM1-CDG309526, 371071, 611314Disease
79323 MPDU1-CDG309526, 371071, 371200, 611314Disease
98873 Congenital dyserythropoietic anemia type II309526, 85Disease
99843 Leukocyte adhesion deficiency type II2968, 309526, 371071, 611314Clinical subtype
238459 SLC35A1-CDG309526, 371071, 371207, 611314Disease
309568 Defect in conserved oligomeric Golgi complex309526Category
464443 COG6-CGD309568, 371047Disease
95428 COG8-CDG309568, 371071, 611314Disease
263487 COG5-CDG309568, 371047, 611314Disease
263501 COG4-CDG309568, 371071, 371157, 611314Disease
435934 COG2-CDG309568, 371047Disease
309778 Defect in V-ATPase309526Category
692790 ATP6AP1-CDG309778, 371047, 371157, 371200Disease
329178 Congenital muscular dystrophy with intellectual disability and severe epilepsy309526, 370953, 371071, 371157, 611314Disease
443811 PGM3-CDG309526, 331223, 611314Disease
448010 CAD-CDG309526, 79193Disease
466703 TMEM199-CDG309526, 477811Disease
468684 CCDC115-CDG309526, 477811Disease
68366 Lysosomal disease68367Category
306511 Autosomal recessive spastic paraplegia type 48320346, 68366, 68385Disease
216 Neuronal ceroid lipofuscinosis182070, 183500, 225681, 68366, 68385, 716405, 98543Clinical group
228329 CLN1 disease216, 98261Disease
699718 Infantile CLN1 disease228329Clinical subtype
699739 Juvenile CLN1 disease228329Clinical subtype
699745 Adult CLN1 disease228329Clinical subtype
699734 Late infantile CLN1 disease228329Clinical subtype
228349 CLN2 disease216, 98261Disease
699751 Infantile CLN2 disease228349Clinical subtype
699769 Juvenile CLN2 disease228349Clinical subtype
699761 Late infantile CLN2 disease228349Clinical subtype
228346 CLN3 disease216, 98261Disease
699780 Juvenile CLN3 disease228346Clinical subtype
699796 Protracted juvenile CLN3 disease228346Clinical subtype
228343 CLN4 disease216, 98261Disease
314632 CLN12 disease216, 514980Disease
314629 CLN11 disease216, 98261Disease
699708 CLN14 disease216Disease
228360 CLN5 disease216, 98261Disease
699802 Late infantile CLN5 disease228360Clinical subtype
699807 Juvenile CLN5 disease228360Clinical subtype
699812 Adult CLN5 disease228360Clinical subtype
228363 CLN6 disease216, 98261Disease
700477 Adult CLN6 disease228363Clinical subtype
700467 Late infantile CLN6 disease228363Clinical subtype
700472 Juvenile CLN6 disease228363Clinical subtype
228366 CLN7 disease216, 98261Disease
228354 CLN8 disease216, 98261Disease
700484 Late infantile CLN8 disease228354Clinical subtype
352709 CLN13 disease216, 98261Disease
228337 CLN10 disease216, 98261Disease
700487 Congenital CLN10 disease228337Clinical subtype
700492 Late infantile CLN10 disease228337Clinical subtype
700497 Juvenile CLN10 disease228337Clinical subtype
35121 Lysosomal acid phosphatase deficiency68366Disease
79207 Disorder of lysosomal amino acid transport68366Category
834 Free sialic acid storage disease225681, 611314, 68385, 79207Disease
309324 Free sialic acid storage disease, infantile form834, 93448Clinical subtype
309331 Intermediate severe Salla disease834Clinical subtype
309334 Salla disease834Clinical subtype
79225 Sphingolipidosis506219, 68366Category
333 Farber disease183484, 371442, 611314, 68385, 716405, 79225, 79382Disease
487 Krabbe disease182070, 183500, 371442, 441434, 68356, 68385, 79225Disease
206443 Late-infantile/juvenile Krabbe disease487Clinical subtype
206448 Adult Krabbe disease487, 98544Clinical subtype
206436 Infantile Krabbe disease487Clinical subtype
512 Metachromatic leukodystrophy207018, 371442, 441434, 68356, 68385, 79225, 98543Disease
309256 Metachromatic leukodystrophy, late infantile form512Clinical subtype
309263 Metachromatic leukodystrophy, juvenile form512Clinical subtype
309271 Metachromatic leukodystrophy, adult form512Clinical subtype
355 Gaucher disease79225Disease
2072 Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome355, 98688Clinical subtype
77260 Gaucher disease type 2264719, 355, 371442, 522520, 68385, 98544, 98683Clinical subtype
77261 Gaucher disease type 3264719, 355, 371442, 399185, 519341, 522506, 68385, 98544, 98688Clinical subtype
85212 Fetal Gaucher disease281241, 355Clinical subtype
309252 Atypical Gaucher disease due to saposin C deficiency355Clinical subtype
79204 Lipid storage disease79225Category
646 Niemann-Pick disease type C182070, 183500, 264968, 371442, 68385, 79204, 98544, 98687Disease
216972 Niemann-Pick disease type C, severe perinatal form646Clinical subtype
216975 Niemann-Pick disease type C, severe early infantile neurologic onset646Clinical subtype
216978 Niemann-Pick disease type C, late infantile neurologic onset646Clinical subtype
216981 Niemann-Pick disease type C, juvenile neurologic onset646Clinical subtype
216986 Niemann-Pick disease type C, adult neurologic onset646Clinical subtype
275761 Lysosomal acid lipase deficiency101940, 181437, 79204Disease
75233 Wolman disease275761Clinical subtype
75234 Cholesteryl ester storage disease275761Clinical subtype
139406 Encephalopathy due to prosaposin deficiency371442, 68385, 79225Disease
309144 Gangliosidosis371442, 79225Category
354 GM1 gangliosidosis309144, 611314, 68385, 93448Disease
79255 GM1 gangliosidosis type 1354, 519341, 522506, 716405Clinical subtype
79256 GM1 gangliosidosis type 2354, 519341, 522506Clinical subtype
79257 GM1 gangliosidosis type 3354Clinical subtype
309152 GM2 gangliosidosis182070, 183500, 309144, 68385Clinical group
796 Sandhoff disease207018, 309152, 716405, 98544Disease
309155 Sandhoff disease, infantile form796Clinical subtype
309162 Sandhoff disease, juvenile form796Clinical subtype
309169 Sandhoff disease, adult form796Clinical subtype
845 Tay-Sachs disease207018, 309152, 716405, 98544Disease
309178 Tay-Sachs disease, infantile form845Clinical subtype
309185 Tay-Sachs disease, juvenile form845Clinical subtype
309192 Tay-Sachs disease, adult form845Clinical subtype
309246 GM2 gangliosidosis, AB variant309152Disease
352641 Autosomal recessive cerebellar ataxia with late-onset spasticity79225, 98096Disease
618899 Acid sphingomyelinase deficiency101940, 264719, 264992, 79225Clinical group
77292 Infantile neurovisceral acid sphingomyelinase deficiency371442, 611314, 618899, 68385, 716427Disease
77293 Chronic visceral acid sphingomyelinase deficiency207018, 477811, 611314, 618899Disease
618891 Chronic neurovisceral acid sphingomyelinase deficiency371442, 477811, 618899, 68385Disease
309279 Glycoproteinosis68366Category
79215 Oligosaccharidosis139009, 309279Category
61 Alpha-mannosidosis611314, 68385, 79215, 93448, 98644Disease
309282 Alpha-mannosidosis, infantile form61Clinical subtype
309288 Alpha-mannosidosis, adult form61Clinical subtype
93 Aspartylglucosaminuria225681, 611314, 68385, 79215, 93448Disease
351 Galactosialidosis68385, 716427, 79215, 93448Disease
3137 Alpha-N-acetylgalactosaminidase deficiency225681, 522548, 611314, 68385, 79215, 98641Disease
79279 Alpha-N-acetylgalactosaminidase deficiency type 13137Clinical subtype
79280 Alpha-N-acetylgalactosaminidase deficiency type 23137Clinical subtype
79281 Alpha-N-acetylgalactosaminidase deficiency type 33137, 522520, 98644, 98683Clinical subtype
309294 Sialidosis716405, 79215Clinical group
812 Sialidosis type 1309294, 611314, 68385Disease
309319 Disorder of sialic acid metabolism68366Category
3166 Sialuria309319Disease
309337 Lysosomal glycogen storage disease68366Category
68373 Peroxisomal disease68367Category
79189 Peroxisome biogenesis disorder101940, 207018, 68356, 68373, 68385, 716405Clinical group
44 Neonatal adrenoleukodystrophy101960, 225686, 522520, 79189, 98644, 98683Disease
309810 Disorder of peroxisomal alpha-, beta- and omega-oxidation506219, 68373Category
773 Adult Refsum disease207018, 281238, 309810, 519286, 522568, 611314, 68356, 68385, 716405, 98096, 98644Disease
926 Acatalasemia309810Disease
35706 Glutaric acidemia type 3225696, 309810Disease
79095 Congenital bile acid synthesis defect type 4207018, 309810, 485631Disease
79188 Peroxisomal beta-oxidation disorder309810Category
2971 Peroxisomal acyl-CoA oxidase deficiency225686, 611314, 79188Disease
43 X-linked adrenoleukodystrophy101960, 181441, 182070, 183500, 225686, 68356, 68385, 79188, 98543Disease
139396 X-linked cerebral adrenoleukodystrophy43, 611314Clinical subtype
139399 Adrenomyeloneuropathy207018, 43Clinical subtype
300 Bifunctional enzyme deficiency79188Disease
163684 Leukoencephalopathy-dystonia-motor neuropathy syndrome68356, 79188Disease
93598 Primary hyperoxaluria type 1309810, 416Clinical subtype
3276 Disorder of plasmalogens biosynthesis68373Category
438178 Fatty acyl-CoA reductase 1 deficiency225686, 3276, 611314, 68385, 98644Disease
642954 Autosomal recessive ataxia due to PEX16 deficiency68373, 68385, 98096Disease
642965 Autosomal recessive ataxia due to PEX2 deficiency68373, 68385, 98096Disease
95433 Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome68373, 68385, 98096Disease
247815 Autosomal recessive ataxia due to PEX10 deficiency68373, 68385, 98096Disease
79062 Disorder of amino acid and other organic acid metabolism68367Category
468726 Severe primary trimethylaminuria79062Disease
79166 Disorder of amino acid absorption and transport79062Category
534 Oculocerebrorenal syndrome of Lowe156162, 183592, 506213, 519286, 522568, 611314, 79166, 93603, 98638, 98646Malformation syndrome
214 Cystinuria183592, 506213, 79166, 93603Disease
93612 Cystinuria type A214Etiological subtype
93613 Cystinuria type B214Etiological subtype
2195 Dicarboxylic aminoaciduria79166Disease
470 Lysinuric protein intolerance664482, 79166Disease
94086 Blue diaper syndrome79166Disease
308451 Disorder of neutral amino acid transport79166Category
2116 Hartnup disease183490, 308451, 611314, 68385, 79390, 93593Disease
42062 Iminoglycinuria308451Disease
363429 Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome79166, 98096Disease
324262 Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency363429, 611314Clinical subtype
363432 Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency363429, 611314Clinical subtype
79167 Disorder of urea cycle metabolism and ammonia detoxification79062Category
90 Argininemia79167Disease
23 Argininosuccinic aciduria611314, 79167Disease
147 Carbamoyl-phosphate synthetase 1 deficiency79167Disease
187 Citrullinemia79167Category
247525 Citrullinemia type I187Disease
247546 Acute neonatal citrullinemia type I247525Clinical subtype
247573 Late-onset citrullinemia type I247525Clinical subtype
247582 Citrin deficiency187Category
247585 Citrullinemia type II101940, 247582Disease
247598 Neonatal intrahepatic cholestasis due to citrin deficiency247582Disease
415 Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome611314, 79167Disease
927 Hyperammonemia due to N-acetylglutamate synthase deficiency611314, 79167Disease
35878 Hyperinsulinism-hyperammonemia syndrome165985, 79167Disease
401948 Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency79167, 79177, 79197Disease
664 Ornithine transcarbamylase deficiency611314, 79167Disease
79173 Disorder of methionine cycle and sulfur amino acid metabolism79062Category
562538 Autosomal recessive extra-oral halitosis79173Disease
619979 Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome331217, 68385, 79173Disease
212 Cystathioninuria79173Disease
622 Homocystinuria without methylmalonic aciduria68385, 79171, 79173, 98396Disease
2169 Methylcobalamin deficiency type cblE611314, 622Clinical subtype
2170 Methylcobalamin deficiency type cblG622Clinical subtype
308380 Methylcobalamin deficiency type cblDv1622Clinical subtype
168598 Methionine adenosyltransferase I/III deficiency611314, 68385, 79173Disease
289290 Hypermethioninemia encephalopathy due to adenosine kinase deficiency68385, 79173Disease
289891 Hypermethioninemia due to glycine N-methyltransferase deficiency79173Disease
1035 Beta-mercaptolactate cysteine disulfiduria447874, 79173Biological anomaly
79181 Disorder of histidine metabolism79062Category
2157 Histidinemia79181Disease
210128 Urocanic aciduria68385, 79181Disease
2158 Histidinuria-renal tubular defect syndrome79181Disease
79185 Disorder of ornithine or proline metabolism79062Category
289866 Disorder of proline metabolism79185Category
419 Hyperprolinemia type 1225689, 289866, 611314, 68385Disease
79101 Hyperprolinemia type 2225689, 289866, 68385Disease
289869 Disorder of ornithine metabolism79185Category
414 Gyrate atrophy of choroid and retina207018, 289869, 716348, 717317, 98644Disease
79187 Disorder of peptide metabolism79062Category
1361 Carnosinase deficiency447874, 79187Biological anomaly
79190 Disorder of phenylalanin or tyrosine metabolism79062Category
284814 Disorder of phenylalanine metabolism79190Category
708881 Phenylalanine hydroxylase deficiency284814Clinical group
716 Phenylketonuria225689, 68385, 708881Disease
293284 Tetrahydrobiopterin-responsive phenylketonuria716Clinical subtype
708895 Tetrahydrobiopterin-unresponsive phenylketonuria716Clinical subtype
79651 Mild hyperphenylalaninemia708881Clinical subtype
284818 Disorder of tyrosine metabolism79190Category
56 Alkaptonuria284818, 519296, 79217, 79387Disease
2118 Hawkinsinuria284818Disease
3402 Transient tyrosinemia of the newborn284818Disease
882 Tyrosinemia type 1101940, 183422, 207018, 284818, 506210, 506213, 93593Disease
28378 Tyrosinemia type 2284818, 519288, 522558, 611314, 98357Disease
69723 Tyrosinemia type 3284818Disease
101150 Autosomal recessive dopa-responsive dystonia255, 284818, 611314Disease
79194 Disorder of serine or glycine metabolism79062Category
3129 Sarcosinemia79194Disease
407 Glycine encephalopathy225689, 611314, 68385, 79194Disease
289857 Neonatal glycine encephalopathy407Clinical subtype
289860 Infantile glycine encephalopathy407Clinical subtype
289863 Atypical glycine encephalopathy407Clinical subtype
35705 Neurometabolic disorder due to serine deficiency68385, 79194Category
447997 Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome35705, 611314Disease
583595 Serine biosynthesis pathway deficiency, infantile/juvenile form35705, 611314Disease
79351 3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form583595Etiological subtype
79350 3-phosphoserine phosphatase deficiency, infantile/juvenile form583595Etiological subtype
284417 Phosphoserine aminotransferase deficiency, infantile/juvenile form583595Etiological subtype
243343 Dimethylglycine dehydrogenase deficiency79194Disease
79196 Disorder of the gamma-glutamyl cycle79062Category
32 Glutathione synthetase deficiency611314, 79196, 98370Disease
289846 Glutathione synthetase deficiency with 5-oxoprolinuria32Clinical subtype
289849 Glutathione synthetase deficiency without 5-oxoprolinuria32Clinical subtype
33572 5-oxoprolinase deficiency79196Disease
33573 Gamma-glutamyl transpeptidase deficiency79196Disease
33574 Glutamate-cysteine ligase deficiency79196, 98370Disease
79197 Disorder of branched-chain amino acid metabolism79062Category
511 Maple syrup urine disease611314, 79197Disease
268145 Classic maple syrup urine disease511Clinical subtype
268162 Intermediate maple syrup urine disease511Clinical subtype
268173 Intermittent maple syrup urine disease511Clinical subtype
268184 Thiamine-responsive maple syrup urine disease511Clinical subtype
289307 Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency79197Disease
308410 Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency225689, 79197Disease
289829 Disorder of tryptophan metabolism79062Category
2224 Hypertryptophanemia289829Disease
79155 Hydroxykynureninuria289829, 68385Disease
289832 Disorder of lysine and hydroxylysine metabolism79062Category
2203 Hyperlysinemia289832Disease
3124 Saccharopinuria289832Disease
79154 2-aminoadipic 2-oxoadipic aciduria289832Disease
289841 Disorder of glutamine metabolism79062Category
557056 Spastic ataxia-dysarthria due to glutaminase deficiency289841, 316240, 68385Disease
557064 Neonatal epileptic encephalopathy due to glutaminase deficiency225689, 289841, 68385Disease
71278 Congenital brain dysgenesis due to glutamine synthetase deficiency289841, 611314, 68385Disease
289899 Organic aciduria79062Category
79158 Cerebral organic aciduria289899Category
653880 Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency79158Disease
19 2-hydroxyglutaric aciduria225689, 68385, 79158Clinical group
79314 L-2-hydroxyglutaric aciduria19, 611314Disease
79315 D-2-hydroxyglutaric aciduria19Disease
356978 D,L-2-hydroxyglutaric aciduria19Disease
25 Glutaryl-CoA dehydrogenase deficiency68385, 79158Disease
308448 Aminoacylase deficiency79158Clinical group
141 Canavan disease182070, 183500, 225689, 308448, 68356, 68385Disease
314911 Severe Canavan disease141Clinical subtype
314918 Mild Canavan disease141Clinical subtype
137754 Aminoacylase 1 deficiency308448, 611314, 68385Disease
391417 HSD10 disease611314, 68385, 79158Disease
85295 HSD10 disease, atypical type391417Clinical subtype
391428 HSD10 disease, infantile type391417Clinical subtype
391457 HSD10 disease, neonatal type391417Clinical subtype
79163 Classic organic aciduria289899Category
33 Isovaleric acidemia611314, 79163Disease
148 Multiple carboxylase deficiency79163, 79217, 79387Clinical group
26 Methylmalonic acidemia with homocystinuria611314, 79163, 79171, 98396Disease
79282 Methylmalonic acidemia with homocystinuria, type cblC207018, 26, 544458, 576742, 716405Clinical subtype
79283 Methylmalonic acidemia with homocystinuria, type cblD26Clinical subtype
79284 Methylmalonic acidemia with homocystinuria type cblF26Clinical subtype
369955 Methylmalonic acidemia with homocystinuria, type cblJ26Clinical subtype
369962 Methylmalonic acidemia with homocystinuria, type cblX26Clinical subtype
134 Beta-ketothiolase deficiency611314, 79163, 79183Disease
939 3-hydroxyisobutyric aciduria79163Disease
20 3-hydroxy-3-methylglutaric aciduria309115, 79163Disease
6 3-methylcrotonyl-CoA carboxylase deficiency79163Disease
35 Propionic acidemia79163Disease
79157 2-methylbutyryl-CoA dehydrogenase deficiency225689, 68385, 79163Disease
88639 Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency611314, 68385, 79163Disease
289504 Combined malonic and methylmalonic acidemia611314, 79163Disease
289902 3-methylglutaconic aciduria79163Clinical group
505208 3-methylglutaconic aciduria type 8289902, 611314, 68385Disease
67046 3-methylglutaconic aciduria type 1289902, 611314Disease
67047 3-methylglutaconic aciduria type 3289902, 441434Disease
67048 3-methylglutaconic aciduria type 4289902, 98644Disease
445038 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome289902, 331184, 611314, 68385, 98644Disease
505216 3-methylglutaconic aciduria type 9225689, 289902, 611314, 68385Disease
293355 Methylmalonic acidemia without homocystinuria79163Clinical group
27 Vitamin B12-unresponsive methylmalonic acidemia293355, 506213, 611314, 93593Disease
79312 Vitamin B12-unresponsive methylmalonic acidemia type mut-27Clinical subtype
289916 Vitamin B12-unresponsive methylmalonic acidemia type mut027Clinical subtype
28 Vitamin B12-responsive methylmalonic acidemia293355, 506213, 79171, 93593Disease
79310 Vitamin B12-responsive methylmalonic acidemia type cblA28Clinical subtype
79311 Vitamin B12-responsive methylmalonic acidemia type cblB28Clinical subtype
308442 Vitamin B12-responsive methylmalonic acidemia, type cblDv228Clinical subtype
308425 Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency293355Disease
308407 Disorder of beta and omega amino acid metabolism79062Category
2066 Gamma-aminobutyric acid transaminase deficiency225707, 308407, 68385, 79175Disease
352728 Disorder of melanin metabolism79062Category
55 Oculocutaneous albinism183469, 352728, 79376, 98706Clinical group
79432 Oculocutaneous albinism type 255Disease
79433 Oculocutaneous albinism type 355Disease
79435 Oculocutaneous albinism type 4522520, 55, 98683Disease
352731 Oculocutaneous albinism type 155Disease
79431 Oculocutaneous albinism type 1A352731Clinical subtype
79434 Oculocutaneous albinism type 1B352731, 522520, 98683Clinical subtype
352734 Minimal pigment oculocutaneous albinism type 1352731Clinical subtype
352737 Temperature-sensitive oculocutaneous albinism type 1352731Clinical subtype
352745 Oculocutaneous albinism type 755Disease
370091 Oculocutaneous albinism type 555Disease
370097 Oculocutaneous albinism type 655Disease
597733 Oculocutaneous albinism type 855Disease
284804 Ocular albinism352728, 98706Clinical group
54 X-linked recessive ocular albinism284804Disease
391381 Disorder of asparagine metabolism79062Category
391376 Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome391381, 68385Disease
79161 Disorder of carbohydrate metabolism68367Category
79177 Gluconeogenesis disorder79161Category
348 Fructose-1,6-bisphosphatase deficiency308463, 79177Disease
2880 Phosphoenolpyruvate carboxykinase deficiency79177Disease
3008 Pyruvate carboxylase deficiency611314, 79177Disease
353308 Pyruvate carboxylase deficiency, infantile type3008Clinical subtype
353314 Pyruvate carboxylase deficiency, severe neonatal type3008Clinical subtype
353320 Pyruvate carboxylase deficiency, benign type3008Clinical subtype
79179 Disorder of glycerol metabolism79161Category
308993 Glycerol kinase deficiency79179Clinical group
408 Isolated glycerol kinase deficiency308993Disease
284411 Glycerol kinase deficiency, juvenile form408Clinical subtype
284414 Glycerol kinase deficiency, adult form408Clinical subtype
79201 Glycogen storage disease79161Category
368 Glycogen storage disease due to muscle glycogen phosphorylase deficiency206959, 79201Disease
369 Glycogen storage disease due to liver glycogen phosphorylase deficiency101940, 79201Disease
371 Glycogen storage disease due to muscle phosphofructokinase deficiency206959, 79201, 98372Disease
370 Glycogen storage disease due to phosphorylase kinase deficiency79201Clinical group
715 Glycogen storage disease due to muscle phosphorylase kinase deficiency206959, 370Disease
79240 Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency101940, 206959, 370Disease
264580 Glycogen storage disease due to liver phosphorylase kinase deficiency101940, 370Disease
364 Glycogen storage disease due to glucose-6-phosphatase deficiency101940, 506210, 79201, 93593Disease
79258 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia364Clinical subtype
79259 Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib331184, 364Clinical subtype
57 Glycogen storage disease due to aldolase A deficiency79201, 98372Disease
713 Glycogen storage disease due to phosphoglycerate kinase 1 deficiency206959, 611314, 79201, 98372Disease
2088 Fanconi-Bickel syndrome101940, 79178, 79201, 93593Disease
2364 Glycogen storage disease due to lactate dehydrogenase deficiency79201Disease
284426 Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency206959, 2364Clinical subtype
284435 Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency2364Clinical subtype
97234 Glycogen storage disease due to phosphoglycerate mutase deficiency206959, 79201Disease
99849 Glycogen storage disease due to muscle beta-enolase deficiency206959, 79201Disease
263297 Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency206959, 79201Disease
308520 Glycogen storage disease due to glycogen synthase deficiency79201Clinical group
2089 Glycogen storage disease due to hepatic glycogen synthase deficiency308520Disease
456369 Polyglucosan body myopathy type 2206959, 68385, 79201Disease
308459 Disorder of glycolysis79161Category
868 Triose phosphate-isomerase deficiency225696, 308459, 68385, 98372Disease
712 Hemolytic anemia due to glucophosphate isomerase deficiency308459, 98372Disease
79299 Congenital glucokinase-related hyperinsulinism165985, 308459Disease
308463 Disorder of fructose metabolism79161Category
469 Hereditary fructose intolerance101940, 104003, 308463, 309001, 506210, 93593Disease
2056 Essential fructosuria308463Disease
308467 Disorder of galactose metabolism79161Category
352 Galactosemia308467, 93593, 98644Category
79237 Galactokinase deficiency352Disease
79238 Galactose epimerase deficiency101940, 352Disease
308473 Erythrocyte galactose epimerase deficiency79238Clinical subtype
308487 Generalized galactose epimerase deficiency79238Clinical subtype
79239 Classic galactosemia101940, 352, 399853, 400022, 485382, 506210, 611314, 95710Disease
570422 Galactose mutarotase deficiency352Disease
308998 Disorder of glyoxylate metabolism79161Category
941 D-glyceric aciduria308998Disease
416 Primary hyperoxaluria308998, 506213, 716405, 93593Disease
93599 Primary hyperoxaluria type 2416Clinical subtype
93600 Primary hyperoxaluria type 3416Clinical subtype
309001 Disorder of carbohydrate absorption and transport79161Category
35122 Congenital sucrase-isomaltase deficiency104006, 309001Disease
53690 Congenital lactase deficiency104006, 309001Disease
79178 Glucose transport disorder309001Category
35710 Glucose-galactose malabsorption104003, 79178Disease
69076 Familial renal glucosuria79178, 93593Disease
71277 Classic glucose transporter type 1 deficiency syndrome225713, 68385, 693802, 79178Disease
103907 Chronic diarrhea due to glucoamylase deficiency104006, 309001Disease
103909 Trehalase deficiency104006, 309001Disease
165991 Exercise-induced hyperinsulinism165985, 309001Disease
247794 Juvenile cataract-microcornea-renal glucosuria syndrome309001, 522548, 93593, 98641Disease
440701 Disorders of pentose/polyol metabolism79161Category
2843 Pentosuria440701Disease
79186 Disorder of pentose phosphate metabolism440701Category
101028 Transaldolase deficiency79186Disease
440706 Ribose-5-P isomerase deficiency68356, 79186Disease
440713 Isolated sedoheptulokinase deficiency79186Disease
79200 Disorder of energy metabolism68367Category
68380 Mitochondrial disease79200Category
223713 Mitochondrial oxidative phosphorylation disorder68380Category
2443 Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies223713Category
527276 Encephalopathy due to mitochondrial and peroxisomal fission defect207018, 2443, 611314, 68385Disease
330050 DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect527276Etiological subtype
485421 MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect527276Etiological subtype
611237 Parkinsonism with polyneuropathy207018, 2443, 306666, 307055Disease
506 Leigh syndrome225700, 225703, 2443, 68385, 98687Disease
1561 Fatal infantile cytochrome C oxidase deficiency2443, 611314Disease
35656 Coenzyme Q10 deficiency225700, 225703, 2443, 68385Clinical group
139485 Autosomal recessive ataxia due to ubiquinone deficiency1172, 35656, 611314Disease
254898 Deafness-encephaloneuropathy-obesity-valvulopathy syndrome35656Disease
658778 COQ7-related distal hereditary motor neuropathy140468, 35656Disease
35696 Mitochondrial disorder due to a defect in mitochondrial protein synthesis2443Category
2598 Mitochondrial myopathy and sideroblastic anemia206966, 35696, 611314, 98362Disease
99013 Spastic paraplegia type 7183518, 320342, 320346, 35696, 441434Disease
101109 Spinocerebellar ataxia type 2835696, 94145Disease
137681 Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1101940, 35696Disease
137898 Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome35696, 611314, 68356Disease
137908 Hypotonia with lactic acidemia and hyperammonemia35696Disease
168566 Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 335696, 611314Disease
217371 Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins101939, 101940, 156604, 35696Disease
238329 Severe X-linked mitochondrial encephalomyopathy35696, 611314, 68385Disease
254343 Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome316240, 35696Disease
254920 Combined oxidative phosphorylation defect type 235696Disease
254925 Combined oxidative phosphorylation defect type 435696Disease
314051 Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome35696, 68356Disease
314603 Autosomal recessive spastic ataxia with leukoencephalopathy316240, 35696, 611314Disease
319504 Combined oxidative phosphorylation defect type 835696Disease
319509 Combined oxidative phosphorylation defect type 935696Disease
319514 Combined oxidative phosphorylation defect type 1335696Disease
319519 Combined oxidative phosphorylation defect type 1435696Disease
319524 Combined oxidative phosphorylation defect type 1535696Disease
324535 Combined oxidative phosphorylation defect type 1135696, 68385Disease
363694 Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome183592, 275853, 35696, 506213, 93603Disease
420728 Combined oxidative phosphorylation defect type 2035696, 68385Disease
420733 Combined oxidative phosphorylation defect type 2135696, 68385Disease
444458 Combined oxidative phosphorylation defect type 2435696Disease
565624 Combined oxidative phosphorylation defect type 3935696, 611314, 68385Disease
528091 Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome35696Disease
478042 Combined oxidative phosphorylation defect type 3035696, 68385Disease
466784 Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect254830, 35696Disease
477774 Combined oxidative phosphorylation defect type 2735696, 611314, 68385Disease
497623 C12ORF65-related combined oxidative phosphorylation defect35696, 441434, 611314, 68385Clinical group
254930 Combined oxidative phosphorylation defect type 7497623Disease
320375 Autosomal recessive spastic paraplegia type 55431320, 497623Disease
477684 Combined oxidative phosphorylation defect type 2635696Disease
466722 Autosomal recessive spastic paraplegia type 77320346, 35696, 68385Disease
478029 Combined oxidative phosphorylation defect type 29182070, 183500, 35696Disease
572798 WARS2-related combined oxidative phosphorylation defect35696, 611314, 68385Disease
199337 Pancreatic insufficiency-anemia-hyperostosis syndrome101937, 165661, 2443, 293830Disease
254822 Mitochondrial oxidative phosphorylation disorder with no known mechanism2443Category
50812 Zellweger-like syndrome without peroxisomal anomalies254822, 611314Disease
67036 Autosomal dominant optic atrophy and cataract254822, 98672Disease
98673 Autosomal dominant optic atrophy, classic form254822, 98672Disease
166105 FASTKD2-related infantile mitochondrial encephalomyopathy254822, 68385Disease
227976 Autosomal recessive optic atrophy, OPA7 type254822, 441434Disease
250932 Autosomal dominant optic atrophy and peripheral neuropathy254822, 98672Disease
391348 Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome254822, 68385Disease
436271 Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy207018, 254822, 68356, 68385Disease
457050 Autosomal dominant mitochondrial myopathy with exercise intolerance206966, 254822, 68385Disease
309136 Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes2443Category
1194 TMEM70-related mitochondrial encephalo-cardio-myopathy309136, 611314Disease
123 Björnstad syndrome309136, 611314, 79367Disease
53693 GRACILE syndrome101940, 309136Disease
254843 Exercise intolerance with lactic acidosis309136Clinical group
43115 Hereditary myopathy with lactic acidosis due to ISCU deficiency254843, 98486Disease
254902 Renal tubulopathy-encephalopathy-liver failure syndrome101940, 309136Disease
289573 Multiple mitochondrial dysfunctions syndrome309136, 401854, 68385Clinical group
569290 Multiple mitochondrial dysfunctions syndrome type 6182070, 183500, 289573Disease
363424 Multiple mitochondrial dysfunctions syndrome type 3289573Disease
401869 Multiple mitochondrial dysfunctions syndrome type 1289573Disease
401874 Multiple mitochondrial dysfunctions syndrome type 2289573Disease
457406 Multiple mitochondrial dysfunctions syndrome type 4182070, 183500, 289573, 441434, 68356Disease
569274 Multiple mitochondrial dysfunctions syndrome type 5182070, 183500, 289573Disease
397593 Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency309136Disease
352456 Mitochondrial DNA maintenance syndrome2443Category
35698 Mitochondrial DNA depletion syndrome104013, 352456Category
254803 Mitochondrial DNA depletion syndrome, encephalomyopathic form35698, 68385Clinical group
1933 Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria254803, 611314Disease
17 Fatal infantile lactic acidosis with methylmalonic aciduria254803Disease
255235 Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy254803, 611314Disease
369897 Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies254803Disease
254871 Mitochondrial DNA depletion syndrome, hepatocerebral form101940, 35698Clinical group
1186 Infantile-onset spinocerebellar ataxia254871, 98098Disease
726 Alpers-Huttenlocher syndrome182070, 183500, 225700, 225703, 254871, 611314, 68385Disease
255229 Navajo neurohepatopathy254871Disease
279934 Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency254871, 79191Disease
363534 Mitochondrial DNA depletion syndrome, hepatocerebrorenal form183592, 254871, 506213, 68385, 93603Disease
254875 Mitochondrial DNA depletion syndrome, myopathic form206966, 35698, 68385, 79193Disease
313772 Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome316240, 35698Disease
254807 Multiple mitochondrial DNA deletion syndrome352456Category
1215 Autosomal dominant optic atrophy plus syndrome140456, 254807, 98672Disease
254818 Ataxia neuropathy spectrum254807Clinical group
70595 Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome206966, 225700, 225703, 254818Disease
94125 Recessive mitochondrial ataxia syndrome254818, 98096Disease
254881 Spinocerebellar ataxia with epilepsy254818Disease
254886 Autosomal recessive progressive external ophthalmoplegia254807, 520820, 68385Disease
254892 Autosomal dominant progressive external ophthalmoplegia254807, 520820, 68385Disease
329314 Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency206966, 254807Disease
352470 DNA2-related mitochondrial DNA deletion syndrome206966, 254807Disease
352447 Progressive external ophthalmoplegia-myopathy-emaciation syndrome206966, 352456, 519347, 522522, 611314, 68385Disease
391351 SURF1-related Charcot-Marie-Tooth disease type 42443, 64749Disease
435998 Autosomal recessive intermediate Charcot-Marie-Tooth disease type D2443, 268337Disease
70472 Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type225700, 225703, 2443, 68385, 98687Disease
254758 Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies223713Category
254767 Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA254758Category
699 Pearson syndrome104013, 181402, 254767, 98362Disease
1670 Chronic diarrhea with villous atrophy254767, 363300, 73014Disease
254776 Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA254758Category
104 Leber hereditary optic neuropathy254776, 98671Disease
644 NARP syndrome225700, 225703, 254776, 611314, 68385, 716405Disease
90641 Rare mitochondrial non-syndromic sensorineural deafness254776, 87884Etiological subtype
254788 Mitochondrial DNA-related mitochondrial myopathy254776Clinical group
2596 Myopathy and diabetes mellitus181381, 183625, 206953, 254788Disease
254854 Pure mitochondrial myopathy254788Disease
254857 Lethal infantile mitochondrial myopathy254788Disease
254864 Mitochondrial myopathy with reversible cytochrome C oxidase deficiency254788Disease
254851 Mitochondrial DNA-related dystonia254776Disease
255210 Mitochondrial DNA-associated Leigh syndrome254776, 68385Disease
397750 Periodic paralysis with later-onset distal motor neuropathy206976, 254776, 371433Disease
620371 Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation183592, 254776, 506213, 93593, 93603Disease
254846 Isolated oxidative phosphorylation complex disorder223713Category
2609 Isolated complex I deficiency206966, 225700, 254846, 611314, 68385Disease
3208 Isolated succinate-CoQ reductase deficiency206966, 254846, 611314Disease
1460 Isolated complex III deficiency254846, 611314Disease
254905 Isolated cytochrome C oxidase deficiency254846, 611314Disease
254913 Isolated ATP synthase deficiency254846Disease
254827 Mitochondrial membrane transport disorder68380Category
254830 Mitochondrial substrate carrier disorder254827Category
255132 Adult-onset autosomal recessive sideroblastic anemia254830, 98362Disease
353217 Epileptic encephalopathy with global cerebral demyelination225700, 254830Disease
254834 Mitochondrial protein import disorder254827Category
254837 Unspecified mitochondrial disorder68380Clinical group
502423 Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome183518, 206966, 254837, 611314Disease
2802 X-linked sideroblastic anemia and spinocerebellar ataxia247765, 254837, 98362Disease
51188 Ethylmalonic encephalopathy254837, 611314Disease
98672 Autosomal dominant optic atrophy254837, 98671Clinical group
401854 Lipoic acid biosynthesis defect68380Category
2394 Pyruvate dehydrogenase E3 deficiency401854, 765Clinical subtype
401859 Lipoic acid synthetase deficiency225700, 401854, 68385Disease
401862 Lipoyl transferase 1 deficiency401854Disease
401866 Childhood-onset spasticity with hyperglycinemia316226, 401854, 68385Disease
447795 Lipoyl transferase 2 deficiency225700, 401854, 68385Biological anomaly
508093 MEPAN syndrome182070, 183500, 391711, 401854, 441434, 68385Malformation syndrome
79172 Creatine deficiency syndrome225696, 79200Clinical group
382 Guanidinoacetate methyltransferase deficiency611314, 68385, 79172Disease
35704 L-Arginine:glycine amidinotransferase deficiency68385, 79172Disease
79174 Disorder of fatty acid oxidation and ketone body metabolism79200Category
79183 Disorder of ketolysis79174Category
832 Succinyl-CoA:3-oxoacid CoA transferase deficiency79183Disease
309115 Disorder of fatty acid oxidation and ketogenesis79174Category
35701 3-hydroxy-3-methylglutaryl-CoA synthase deficiency309115Disease
309120 Acyl-CoA dehydrogenase deficiency309115Clinical group
42 Medium chain acyl-CoA dehydrogenase deficiency309120Disease
26792 Short chain acyl-CoA dehydrogenase deficiency206953, 309120Disease
329942 Transient neonatal multiple acyl-CoA dehydrogenase deficiency309120Disease
309127 3-hydroxyacyl-CoA dehydrogenase deficiency309115Clinical group
71212 Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency165985, 225696, 309127, 68385Disease
309130 Disorder of carnitine cycle and carnitine transport79174Category
157 Carnitine palmitoyltransferase II deficiency206953, 309130Disease
228302 Carnitine palmitoyl transferase II deficiency, myopathic form157Clinical subtype
228305 Carnitine palmitoyl transferase II deficiency, severe infantile form157Clinical subtype
228308 Carnitine palmitoyl transferase II deficiency, neonatal form157Clinical subtype
156 Carnitine palmitoyl transferase 1A deficiency309130Disease
309133 Metabolic disease due to other fatty acid oxidation disorder79174Category
943 Malonic aciduria309133Disease
438072 Disorder of keton body transport79174Category
438075 Ketoacidosis due to monocarboxylate transporter-1 deficiency438072Disease
254746 Pyruvate metabolism disorder79200Category
765 Pyruvate dehydrogenase deficiency225700, 225703, 254746, 611314Disease
79243 Pyruvate dehydrogenase E1-alpha deficiency765Clinical subtype
79244 Pyruvate dehydrogenase E2 deficiency765Clinical subtype
79246 Pyruvate dehydrogenase phosphatase deficiency765Clinical subtype
255138 Pyruvate dehydrogenase E1-beta deficiency765Clinical subtype
255182 Pyruvate dehydrogenase E3-binding protein deficiency765Clinical subtype
766 Hemolytic anemia due to red cell pyruvate kinase deficiency254746, 98372Disease
447784 Mitochondrial pyruvate carrier deficiency254746, 68385Disease
254749 Tricarboxylic acid cycle disorder79200Category
615964 Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate254749, 68385Disease
31 Oxoglutaric aciduria225700, 225703, 254749, 68385Disease
24 Fumaric aciduria225700, 225703, 254749, 68385Disease
313850 Infantile cerebellar-retinal degeneration182070, 183500, 254749, 441434, 68385, 716405Disease
79214 Disorder of biogenic amine metabolism and transport68367Category
79169 Disorder of neurotransmitter metabolism and transport79214Category
3057 Monoamine oxidase A deficiency611314, 68385, 79169Disease
309819 Disorder of pterin metabolism68385, 79169Category
255 Dopa-responsive dystonia309819, 391711Clinical group
70594 Dopa-responsive dystonia due to sepiapterin reductase deficiency255, 611314Disease
98808 Autosomal dominant dopa-responsive dystonia255, 611314Disease
238583 Hyperphenylalaninemia due to tetrahydrobiopterin deficiency309819Disease
226 Dihydropteridine reductase deficiency238583Clinical subtype
13 6-pyruvoyl-tetrahydropterin synthase deficiency238583Clinical subtype
2102 GTP cyclohydrolase I deficiency238583Clinical subtype
1578 Pterin-4 alpha-carbinolamine dehydratase deficiency238583Clinical subtype
508523 Hyperphenylalaninemia due to DNAJC12 deficiency309819, 391711Disease
309830 Disorder of catecholamine synthesis79169Category
35708 Aromatic L-amino acid decarboxylase deficiency309830, 68385Disease
352649 Brain dopamine-serotonin vesicular transport disease391711, 611314, 79169Disease
79175 Disorder of gamma-aminobutyric acid metabolism79214Category
22 Succinic semialdehyde dehydrogenase deficiency225707, 611314, 68385, 79175Disease
79192 Disorder of pyridoxine metabolism79214Category
3006 Pyridoxine-dependent-developmental and epileptic encephalopathy225707, 611314, 68385, 693802, 79192Disease
79096 Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy225707, 309833, 611314, 68385, 693802, 79192Disease
79219 Metabolic disease involving other neurotransmitter deficiency225707, 79214Category
3197 Hereditary hyperekplexia183521, 306773, 611314, 68385, 79219, 98747Disease
132 Hereditary butyrylcholinesterase deficiency79219Disease
79097 Folinic acid-responsive seizures68385, 79219Disease
79224 Disorder of purine or pyrimidine metabolism68367Category
79191 Disorder of purine metabolism79224Category
45 Adenosine monophosphate deaminase deficiency206966, 68385, 79191Disease
760 Purine nucleoside phosphorylase deficiency480549, 611314, 79191Disease
3467 Hereditary xanthinuria79191, 93593Disease
93601 Xanthinuria type I3467Etiological subtype
93602 Xanthinuria type II3467Etiological subtype
46 Adenylosuccinate lyase deficiency180772, 225713, 611314, 79191Disease
976 Adenine phosphoribosyltransferase deficiency506213, 79191, 93593Disease
3222 Phosphoribosylpyrophosphate synthetase superactivity611314, 79191, 93593Disease
411536 Mild phosphoribosylpyrophosphate synthetase superactivity3222Clinical subtype
411543 Severe phosphoribosylpyrophosphate synthetase superactivity3222Clinical subtype
277 Severe combined immunodeficiency due to adenosine deaminase deficiency317419, 79191Disease
99138 Hemolytic anemia due to erythrocyte adenosine deaminase overproduction79191, 98374Disease
206428 Hypoxanthine-guanine phosphoribosyltransferase deficiency506213, 611314, 68385, 79191, 93593, 98415Clinical group
510 Lesch-Nyhan syndrome206428Disease
79233 Hypoxanthine guanine phosphoribosyltransferase partial deficiency206428Disease
250977 AICA-ribosiduria611314, 716342, 79191Disease
423479 X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency611314, 68385, 716405, 79191Disease
457375 ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement182070, 183500, 225713, 68385, 79191Disease
79193 Disorder of pyrimidine metabolism79224Category
30 Hereditary orotic aciduria611314, 79193, 98415Disease
1675 Dihydropyrimidine dehydrogenase deficiency79193Disease
35120 Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency79193, 98374Disease
38874 Dihydropyrimidinuria79193Disease
65287 Beta-ureidopropionase deficiency225707, 68385, 79193Disease
309147 Hyper-beta-alaninemia225689, 79193Disease
91088 Other metabolic disease68367Category
657 Congenital isolated hyperinsulinism276525, 91088Clinical group
165985 Diazoxide-sensitive diffuse hyperinsulinism657Clinical group
263455 Congenital hyperinsulinism due to HNF4A deficiency165985Disease
276556 Hyperinsulinism due to UCP2 deficiency165985Disease
276575 Autosomal dominant hyperinsulinism due to SUR1 deficiency165985Disease
276580 Autosomal dominant hyperinsulinism due to Kir6.2 deficiency165985Disease
324575 Hyperinsulinism due to HNF1A deficiency165985Disease
276585 Diazoxide-resistant hyperinsulinism657Clinical group
79298 Diazoxide-resistant focal hyperinsulinism276585Clinical group
276598 Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency79298Disease
276603 Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency79298Disease
165988 Diazoxide-resistant diffuse hyperinsulinism276585Clinical group
79643 Autosomal recessive hyperinsulinism due to SUR1 deficiency165988Disease
79644 Autosomal recessive hyperinsulinism due to Kir6.2 deficiency165988, 611314Disease
289877 Transient hyperammonemia of the newborn91088Particular clinical situation in a disease or syndrome
60 Alpha-1-antitrypsin deficiency101940, 101944, 156610, 250808, 506210, 91088, 93593Disease
714 Hemolytic anemia due to diphosphoglycerate mutase deficiency91088, 98372Disease
79507 Hypotonia-failure to thrive-microcephaly syndrome91088Disease
99845 Genetic recurrent myoglobinuria206953, 352312, 91088Disease
99846 Autosomal dominant myoglobinuria206953, 91088Disease
404454 Alacrimia-choreoathetosis-liver dysfunction syndrome183484, 281244, 611314, 79382, 91088, 98604Disease
555402 NAD(P)HX dehydratase deficiency182070, 183500, 68385, 91088Disease
555407 NAD(P)HX epimerase deficiency182070, 183500, 68385, 91088Disease
309005 Disorder of lipid metabolism68367Category
79226 Sterol metabolism disorder309005Category
79168 Disorder of bile acid synthesis79226Category
84065 Idiopathic malabsorption due to bile acid synthesis defects104005, 79168Disease
163631 Bile acid synthesis defect with cholestasis and malabsorption284385, 506210, 79168Category
485631 Congenital bile acid synthesis defect163631Clinical group
79301 Congenital bile acid synthesis defect type 1485631Disease
79302 Congenital bile acid synthesis defect type 3485631Disease
79303 Congenital bile acid synthesis defect type 2485631Disease
909 Cerebrotendinous xanthomatosis163631, 181437, 183484, 207018, 225710, 611314, 68356, 68385, 79382, 98096, 98544, 98644Disease
238475 Familial hypercholanemia163631Disease
276066 Bile acid CoA ligase deficiency and defective amidation163631Disease
209902 Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency477811, 79168Disease
101953 Rare dyslipidemia156638, 309005, 97978Category
181422 Rare hyperlipidemia101953Category
412 Dysbetalipoproteinemia181422Disease
181428 Familial Hyperalphalipoproteinemia181422Biological anomaly
444490 Familial chylomicronemia syndrome181422Disease
309015 Familial lipoprotein lipase deficiency444490Etiological subtype
309020 Familial apolipoprotein C-II deficiency444490Etiological subtype
535453 Familial lipase maturation factor 1 deficiency444490Etiological subtype
535458 Familial GPIHBP1 deficiency444490Etiological subtype
530849 Familial apolipoprotein A5 deficiency444490Etiological subtype
140905 Hyperlipidemia due to hepatic triacylglycerol lipase deficiency181422Disease
477811 Rare hypercholesterolemia181422Category
391665 Homozygous familial hypercholesterolemia477811Disease
181431 Rare hypolipidemia101953Category
31153 Hypoalphalipoproteinemia181431Clinical group
650 LCAT deficiency31153, 506213, 93593, 98628Disease
79292 Fish-eye disease650Clinical subtype
79293 Familial LCAT deficiency182043, 650Clinical subtype
425 Apolipoprotein A-I deficiency31153Disease
31150 Tangier disease207018, 207021, 31153, 68385Disease
31154 Hypobetalipoproteinemia181431Clinical group
14 Abetalipoproteinemia104005, 207018, 31154, 363306, 68385, 716405, 98096, 98366, 98644Disease
71 Chylomicron retention disease104005, 31154, 363306Disease
181437 Rare syndromic dyslipidemia101953Category
2882 Sitosterolemia181437Disease
329481 Lipoprotein glomerulopathy181437, 183586, 93548Disease
309028 Disorder of lipid absorption and transport101937, 165661, 309005Category
309031 Pancreatic triacylglycerol lipase deficiency309028Disease
309108 Pancreatic colipase deficiency309028Disease
309111 Combined pancreatic lipase-colipase deficiency309028Disease
352301 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis309005Category
352306 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement352301Category
615938 Spastic paraparesis-cataracts-speech delay syndrome100979, 352306, 68385, 98644Clinical syndrome
506353 Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction100981, 352306, 611314Disease
816 Sjögren-Larsson syndrome281238, 352306, 611314, 68385, 716427Disease
139480 Autosomal recessive spastic paraplegia type 39100981, 352306Disease
157850 Pantothenate kinase-associated neurodegeneration263440, 309833, 352306, 385, 716405Disease
216866 Classic pantothenate kinase-associated neurodegeneration157850Clinical subtype
216873 Atypical pantothenate kinase-associated neurodegeneration157850Clinical subtype
329303 PLA2G6-associated neurodegeneration352306, 385Clinical group
35069 Infantile neuroaxonal dystrophy329303, 98497Disease
199351 Adult-onset dystonia-parkinsonism306666, 307055, 329303, 391711Disease
329308 Fatty acid hydroxylase-associated neurodegeneration100981, 352306, 385, 441434Disease
352333 Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome281238, 352306, 611314, 68385Disease
423296 Spinocerebellar ataxia type 38352306, 94148Disease
424027 Progressive myoclonic epilepsy type 8352306, 98261Disease
431361 Progressive encephalopathy with leukodystrophy due to DECR deficiency352306, 68356, 68385Disease
352309 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement352301Category
36386 Hereditary sensory and autonomic neuropathy type 1140474, 352309Disease
352312 Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement352301Category
165 Neutral lipid storage disease206953, 352312Clinical group
98907 Neutral lipid storage disease with ichthyosis165, 281244, 611314, 98644Disease
98908 Neutral lipid storage disease with myopathy165Disease
280671 Megaconial congenital muscular dystrophy352312, 97242Disease
506334 Familial steroid-resistant nephrotic syndrome with adrenal insufficiency352301, 567562, 595337Disease
309340 Disorder of lysosomal-related organelles68367Category
167 Chédiak-Higashi syndrome182070, 183494, 183500, 207015, 284811, 309340, 331249, 79391, 98456Disease
79430 Hermansky-Pudlak syndrome284811, 309340, 98456Disease
183678 Hermansky-Pudlak syndrome due to AP-3 deficiency331184, 331249, 79430Clinical subtype
664500 Hermansky-Pudlak syndrome due to AP3B1 deficiency183678Clinical subtype
664511 Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency183678, 611314Clinical subtype
231500 Hermansky-Pudlak syndrome due to BLOC-3 deficiency264719, 79430Clinical subtype
231512 Hermansky-Pudlak syndrome due to BLOC-2 deficiency79430Clinical subtype
231531 Hermansky-Pudlak syndrome due to BLOC-1 deficiency79430Clinical subtype
309813 Disorder of porphyrin and heme metabolism68367Category
738 Porphyria183490, 309813, 79387, 79390, 93593Clinical group
659681 Erythropoietic porphyria738Clinical group
79277 Congenital erythropoietic porphyria659681, 98369Disease
79278 Autosomal erythropoietic protoporphyria659681, 98369Disease
443197 X-linked erythropoietic protoporphyria659681Disease
280379 Erythropoietic uroporphyria associated with myeloid malignancy659681Disease
95159 Hepatoerythropoietic porphyria659681Disease
659672 Harderoporphyria659681, 98369Disease
659694 Hepatic porphyria101940, 738Clinical group
95157 Acute hepatic porphyria207018, 506210, 659694Clinical group
79273 Hereditary coproporphyria95157Disease
79276 Acute intermittent porphyria95157Disease
79473 Variegate porphyria95157Disease
100924 Porphyria due to ALA dehydratase deficiency95157Disease
659698 Hepatic cutaneous porphyria659694Clinical group
101330 Porphyria cutanea tarda659698Disease
443057 Sporadic porphyria cutanea tarda101330Clinical subtype
443062 Familial porphyria cutanea tarda101330Clinical subtype
75563 X-linked sideroblastic anemia309813, 98362Disease
309816 Disorder of bilirubin metabolism and excretion309813Category
205 Crigler-Najjar syndrome101940, 309816, 506210Disease
79234 Crigler-Najjar syndrome type 1205Clinical subtype
79235 Crigler-Najjar syndrome type 2205Clinical subtype
234 Dubin-Johnson syndrome101940, 309816Disease
3111 Rotor syndrome101940, 309816Disease
172 Progressive familial intrahepatic cholestasis284385, 309816, 506210Disease
79304 Progressive familial intrahepatic cholestasis type 2172Clinical subtype
79305 Progressive familial intrahepatic cholestasis type 3172Clinical subtype
79306 Progressive familial intrahepatic cholestasis type 1172Clinical subtype
480483 Progressive familial intrahepatic cholestasis type 4172Clinical subtype
480491 MYO5B-related progressive familial intrahepatic cholestasis172Clinical subtype
480476 Progressive familial intrahepatic cholestasis type 5172Clinical subtype
168583 Hereditary North American Indian childhood cirrhosis172Clinical subtype
65682 Benign recurrent intrahepatic cholestasis284385, 309816Disease
99960 Benign recurrent intrahepatic cholestasis type 165682Clinical subtype
99961 Benign recurrent intrahepatic cholestasis type 265682Clinical subtype
415286 Bilirubin encephalopathy309816, 68385Clinical group
529799 Acute bilirubin encephalopathy415286Clinical syndrome
529808 Chronic bilirubin encephalopathy415286Clinical syndrome
562509 Heme oxygenase-1 deficiency309813Disease
309824 Disorder of metabolite absorption and transport68367Category
309827 Disorder of vitamin and non-protein cofactor absorption and transport309824Category
79171 Disorder of cobalamin metabolism and transport309827Category
859 Transcobalamin deficiency331217, 79171, 98396Disease
2967 Transcobalamin I deficiency79171Disease
332 Congenital intrinsic factor deficiency79171, 98396Disease
35858 Imerslund-Gräsbeck syndrome104004, 79171, 93593, 98396Disease
280183 Methylmalonic aciduria due to transcobalamin receptor defect79171Biological anomaly
285657 Disorder of folate metabolism and transport309827Category
597874 MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome225713, 285657, 611314, 68356, 68385Disease
658813 Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency285657, 98408Disease
661412 Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency285657, 331217, 98408Disease
395 Homocystinuria due to methylene tetrahydrofolate reductase deficiency207018, 225713, 285657Disease
51208 Formiminoglutamic aciduria285657, 98408Disease
90045 Hereditary folate malabsorption104004, 285657, 331217, 611314, 98408Disease
217382 Neurodegenerative syndrome due to cerebral folate transport deficiency182070, 183500, 225713, 285657, 68385Disease
319651 Constitutional megaloblastic anemia with severe neurologic disease225713, 285657, 98408Disease
298644 Disorder of thiamine metabolism and transport309827Category
217396 Progressive polyneuropathy with bilateral striatal necrosis298644, 68385Disease
65284 Biotin-thiamine-responsive basal ganglia disease298644, 68385Disease
199348 Thiamine-responsive encephalopathy166472, 298644Disease
263410 Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome298644, 611314Disease
293955 Childhood encephalopathy due to thiamine pyrophosphokinase deficiency298644Disease
309833 Disorder of other vitamins and cofactors metabolism and transport309827Category
96 Ataxia with vitamin E deficiency207018, 309833, 68385, 716405, 98096Disease
79241 Biotinidase deficiency207018, 309833Disease
98434 Hereditary combined deficiency of vitamin K-dependent clotting factors169826, 309833Disease
199285 Hereditary hypercarotenemia and vitamin A deficiency309833Disease
352718 Progressive retinal dystrophy due to retinol transport defect309833, 716410, 717324Disease
411712 Maternal riboflavin deficiency309833Disease
79242 Holocarboxylase synthetase deficiency309833Disease
521268 Sodium-dependent multivitamin transporter deficiency207018, 309833Disease
309836 Disorder of mineral absorption and transport309824Category
309839 Disorder of copper metabolism309836Category
905 Wilson disease101940, 207018, 225692, 306712, 307061, 309839, 370106, 506210, 68385, 93593, 98033, 98687Disease
565 Menkes disease225692, 309839, 611314, 68385, 79367Disease
1551 Familial benign copper deficiency309839Disease
139557 X-linked distal spinal muscular atrophy type 3309839, 404538Disease
300313 Congenital cataract-hearing loss-severe developmental delay syndrome309839, 522548, 611314, 68385, 98641Disease
48818 Aceruloplasminemia309839, 309842, 385, 716405, 98360Disease
521411 Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect309839, 91024Disease
309842 Disorder of iron metabolism and transport309836Category
446 Neonatal hemochromatosis101940, 309842, 506210Disease
1195 Congenital atransferrinemia309842, 98360Disease
83642 Microcytic anemia with liver iron overload309842, 98360Disease
139507 Dietary iron overload disease101940, 309842Disease
157846 Neuroferritinopathy158266, 309842, 385Disease
220489 Rare hereditary hemochromatosis101940, 309842, 506210Category
465508 Symptomatic form of HFE-related hemochromatosis220489Disease
648569 Non-HFE-related hemochromatosis220489Clinical group
225123 TFR2-related hemochromatosis648569Disease
647834 SLC40A1-related hemochromatosis648569Disease
79230 HJV or HAMP-related hemochromatosis648569Disease
648581 Digenic hemochromatosis220489Disease
247790 FTH1-related iron overload101940, 309842Disease
440731 L-ferritin deficiency158300, 309842, 97992Biological anomaly
163 Hereditary hyperferritinemia-cataract syndrome309842, 522548, 98641Disease
648562 Ferroportin disease101940, 309842Disease
309845 Disorder of zinc metabolism and transport309836Category
505242 Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome182070, 183500, 183592, 309845, 93603, 98688Disease
251523 Hyperzincemia and hypercalprotectinemia290842, 309845, 324927, 324942, 619238, 622720, 79387Disease
309848 Disorder of magnesium transport309836Category
30924 Primary hypomagnesemia with secondary hypocalcemia183592, 309848, 93603Disease
34528 Autosomal dominant primary hypomagnesemia with hypocalciuria183592, 309848, 93603Disease
199326 Isolated autosomal dominant hypomagnesemia, Glaudemans type183592, 309848, 93603Disease
564178 Primary hypomagnesemia-refractory seizures-intellectual disability syndrome166472, 183592, 309848, 611314, 93603Disease
620368 EGF-related primary hypomagnesemia with intellectual disability183592, 309848, 93603Disease
306516 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis183592, 309848, 506213, 93603Disease
2196 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement306516, 716405Clinical subtype
31043 Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement306516Clinical subtype
309851 Disorder of manganese transport309836Category
309854 Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome101940, 306666, 307055, 309851Disease
521406 Dystonia-parkinsonism-hypermanganesemia syndrome309851, 391711, 611314Disease
97935 Rare gastroenterologic diseaseCategory
101936 Rare gastroesophageal disease97935Category
231080 High-grade dysplasia in patients with Barrett esophagus101936Particular clinical situation in a disease or syndrome
930 Idiopathic achalasia101936Disease
2494 Ménétrier disease101936Disease
2070 Eosinophilic gastroenteritis101936, 402029Disease
2198 Palmoplantar keratoderma-esophageal carcinoma syndrome101936, 140162, 165658, 98353Disease
2575 Cystic fibrosis-gastritis-megaloblastic anemia syndrome101936, 165658Disease
54028 Plummer-Vinson syndrome101936, 248302Disease
71272 Sandifer syndrome101936, 306768Disease
180821 Rare gastroesophageal tumor101936, 98059Category
63443 Rare epithelial tumor of stomach180821Category
100075 Neuroendocrine tumor of stomach481508, 63443Disease
423771 Rare carcinoma of stomach63443Category
36273 Gastric linitis plastica423771Disease
313920 Epstein-Barr virus-associated gastric carcinoma289651, 423771Disease
418959 Squamous cell carcinoma of the stomach423771Disease
423776 Hereditary gastric cancer423771Category
26106 Hereditary diffuse gastric cancer165658, 271835, 423776Disease
314022 Gastric adenocarcinoma and proximal polyposis of the stomach423776Disease
423786 Undifferentiated carcinoma of stomach423771Disease
464756 Familial gastric type 1 neuroendocrine tumor63443Disease
70482 Carcinoma of esophagus180821Clinical group
99976 Adenocarcinoma of the oesophagus and oesophagogastric junction70482Disease
99977 Squamous cell carcinoma of the esophagus70482Disease
418945 Carcinoma of esophagus, salivary gland type70482Disease
418951 Undifferentiated carcinoma of esophagus70482Disease
506136 Neuroendocrine neoplasm of esophagus180821, 481508Disease
329883 Non-hypoproteinemic hypertrophic gastropathy101936Disease
401945 Moyamoya disease with early-onset achalasia101936, 165658, 477771Disease
558411 Idiopathic gastroparesis101936Disease
2069 Gastrocutaneous syndrome101936, 165658, 183466, 79375Disease
487809 Pediatric collagenous gastritis101936Disease
101937 Rare pancreatic disease97935Category
586 Cystic fibrosis101937, 101941, 101944, 156607, 156610, 165661, 399824, 400003, 506210, 506222Disease
676 Autosomal dominant hereditary chronic pancreatitis101937, 165661, 181381, 183625Disease
103918 Tropical pancreatitis101937Disease
103919 Autoimmune pancreatitis101937Clinical group
280302 Autoimmune pancreatitis type 1103919, 596448Clinical subtype
280315 Autoimmune pancreatitis type 2103919Disease
180824 Rare tumor of pancreas101937, 98059Category
424033 Rare epithelial tumor of pancreas180824Category
677 Pancreatoblastoma424033Disease
506052 Neuroendocrine neoplasm of pancreas100092, 424033Category
97253 Neuroendocrine tumor of pancreas506052Category
506060 Functioning neuroendocrine tumor of pancreas97253Category
913 Zollinger-Ellison syndrome100076, 506060Disease
97261 GRFoma506060Disease
97278 PPoma506060Disease
97279 Insulinoma506060Disease
97280 Glucagonoma506060Disease
97282 VIPoma506060Disease
97283 Somatostatinoma100076, 100077, 506060Disease
99889 Cushing syndrome due to ectopic ACTH secretion506060, 99892Disease
506090 Serotonin-producing neuroendocrine tumor of pancreas506060Disease
506075 Non-functioning neuroendocrine tumor of pancreas97253Disease
506098 Neuroendocrine carcinoma of pancreas506052Disease
506112 Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas506052Disease
217074 Rare carcinoma of pancreas424033Category
1333 Familial pancreatic carcinoma165661, 217074Disease
424039 Squamous cell carcinoma of pancreas217074Disease
424046 Acinar cell carcinoma of pancreas217074Disease
424053 Mucinous cystadenocarcinoma of the pancreas217074Disease
424058 Intraductal papillary mucinous carcinoma of pancreas217074Disease
424065 Pancreatic solid pseudopapillary neoplasm217074Disease
424073 Serous cystadenocarcinoma of pancreas217074Disease
424080 Undifferentiated carcinoma with osteoclast-like giant cells of pancreas217074Disease
93292 Adenoma of pancreas165711, 424033Disease
580572 Intraductal tubulopapillary neoplasm of pancreas424033Disease
438274 GCGR-related hyperglucagonemia165711, 180824Disease
300552 Follicular cholangitis and pancreatitis101937, 101941Disease
313906 Congenital pancreatic cyst101937, 506216Morphological anomaly
697132 Lymphoepithelial cyst of the pancreas101937Disease
700133 Idiopathic chronic pancreatitis101937Disease
700136 Early-onset idiopathic chronic pancreatitis700133Clinical subtype
700139 Late-onset idiopathic chronic pancreatitis700133Clinical subtype
700124 Autosomal recessive hereditary chronic pancreatitis101937, 165661Disease
695131 Acinar cystic transformation of the pancreas101937Disease
117569 Rare intestinal disease97935Category
3452 Whipple disease117569, 163582, 183710, 306753Disease
556 Malakoplakia117569Disease
36204 Intestinal lymphangiectasia117569Clinical group
90362 Primary intestinal lymphangiectasia165655, 36204Disease
90363 Secondary intestinal lymphangiectasia36204Disease
566175 Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome165655, 36204Disease
70475 Radiation proctitis117569, 521132Disease
73014 Intractable diarrhea of infancy117569, 506216Category
2290 Microvillus inclusion disease104007, 363300, 73014Disease
84064 Trichohepatoenteric syndrome101939, 156604, 363300, 477647, 481671, 717865, 73014Disease
92050 Congenital tufting enteropathy104007, 363300, 717865, 73014Disease
329242 Congenital chronic diarrhea with protein-losing enteropathy363300, 73014Disease
103908 Congenital sodium diarrhea104003, 363300, 717851, 73014Disease
563708 Syndromic congenital sodium diarrhea104003, 363300, 73014Disease
522037 Primary autoimmune enteropathy73014, 94075Disease
522043 Syndromic autoimmune enteropathy363300, 73014, 94075Clinical group
37042 Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome101956, 169355, 183643, 522043Disease
436159 Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency169355, 522043, 664450Disease
391487 STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome101956, 169355, 183643, 183710, 522043, 664450Disease
169100 Immunodeficiency due to CD25 deficiency169355, 522043Disease
438159 STAT3-related early-onset multisystem autoimmune disease169355, 182228, 280373, 522043, 664450, 71203, 98375Disease
220465 Laron syndrome with immunodeficiency181393, 331217, 522043Disease
3453 Autoimmune polyendocrinopathy type 1101960, 169355, 181405, 183643, 208593, 282196, 399853, 522043, 522548, 664450, 95709, 98641Disease
445018 Syndromic autoimmune enteropathy due to LRBA deficiency101956, 183643, 480549, 522043Disease
94075 Severe immune-mediated enteropathy117569Category
572 Immunodeficiency by defective expression of MHC class II480549, 94075Disease
397959 TCR-alpha-beta-positive T-cell deficiency480549, 94075Disease
280142 Combined immunodeficiency due to LCK deficiency317419, 94075Disease
104003 Congenital intestinal transport defect117569, 165655, 506216Category
53689 Congenital chloride diarrhea104003, 717851Disease
104004 Intestinal disease due to vitamin absorption anomaly117569, 165655Category
104005 Intestinal disease due to fat malabsorption117569Category
104006 Congenital intestinal disease due to an enzymatic defect117569, 165655Category
168601 Congenital enteropathy due to enteropeptidase deficiency104006Disease
104007 Congenital enteropathy involving intestinal mucosa development117569, 165655, 506216Category
83620 Enteric anendocrinosis104007Disease
103910 Congenital enterocyte heparan sulfate deficiency104007Disease
104008 Short bowel syndrome117569, 506216Clinical group
95427 Secondary short bowel syndrome104008Disease
365563 Primary short bowel syndrome104008, 165655Clinical group
104009 Rare disease involving intestinal motility117569, 165655, 506216Category
388 Hirschsprung disease104009Disease
2604 Familial visceral myopathy104009Disease
2978 Chronic intestinal pseudoobstruction syndrome104009Clinical syndrome
99811 Neuronal intestinal pseudoobstruction2978Etiological subtype
104077 Myopathic intestinal pseudoobstruction2978Etiological subtype
104078 Unclassified intestinal pseudoobstruction2978Etiological subtype
314373 Chronic infantile diarrhea due to guanylate cyclase 2C overactivity104009, 717865Disease
314376 Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency104009Disease
404463 Multisystemic smooth muscle dysfunction syndrome101433, 104009, 156619, 183503, 275853, 285014, 519286, 522568, 71281Disease
2151 Hirschsprung disease-ganglioneuroblastoma syndrome104009, 519286, 522568Malformation syndrome
104011 Rare tumor of intestine117569, 506216, 98059Category
423793 Rare tumor of small intestine104011Category
652658 Monomorphic epitheliotropic intestinal T-cell lymphoma171918, 423793Disease
86880 Enteropathy-associated T-cell lymphoma171918, 423793Disease
423798 Mesenchymal tumor of small intestine423793Category
44890 Gastrointestinal stromal tumor271835, 423798Disease
104076 Leiomyosarcoma of small intestine423798Disease
425368 Rare epithelial tumor of small intestine423793Category
423957 Rare carcinoma of small intestine425368Category
104075 Adenocarcinoma of the small intestine423957Disease
423968 Squamous cell carcinoma of the small intestine423957Disease
423975 Neuroendocrine tumor of the small intestine425368, 481508Category
100076 Duodenal neuroendocrine tumor423975Category
100077 Jejunal neuroendocrine tumor423975Category
100078 Ileal neuroendocrine tumor423975Disease
423982 Epithelial tumor of the appendix104011Category
100079 Neuroendocrine neoplasm of appendix423982, 481508Disease
329977 Classic neuroendocrine tumor of appendix100079Clinical subtype
329984 Goblet cell carcinoma100079Clinical subtype
391723 Mucinous adenocarcinoma of the appendix423982Disease
423991 Rare epithelial tumor of colon104011Category
100080 Neuroendocrine tumor of the colon423991, 481508Disease
423994 Squamous cell carcinoma of the colon423991Disease
423998 Rare epithelial tumor of rectum104011Category
100081 Neuroendocrine tumor of the rectum423998, 481508Disease
424002 Squamous cell carcinoma of the rectum423998Disease
424010 Epithelial tumor of anal canal104011Category
100082 Neuroendocrine tumor of anal canal424010, 481508Disease
424013 Carcinoma of the anal canal424010Clinical group
424016 Adenocarcinoma of the anal canal424013Disease
424019 Squamous cell carcinoma of the anal canal424013Disease
104012 Rare inflammatory bowel disease117569, 506216Category
717851 Rare non-syndromic inflammatory bowel disease104012Clinical group
468641 Chronic enteropathy associated with SLCO2A1 gene165655, 717851Disease
597201 TRIM22-related inflammatory bowel disease165655, 717851Disease
477661 IL21-related infantile inflammatory bowel disease165655, 695164, 717851Disease
597887 ALPI-related inflammatory bowel disease165655, 717851Disease
714410 CARD8-related inflammatory bowel disease165655, 717851Disease
714481 SCGN-related severe early-onset hereditary ulcerative colitis165655, 717851Disease
714484 AGR2-related infantile-onset inflammatory bowel disease165655, 717851Disease
714490 PERCC1-related congenital intractable malabsorptive diarrhea165655, 717851Disease
717862 Rare disorder with inflammatory bowel disease104012Category
717865 Rare congenital-chronic-intractable diarrhea with inflammatory bowel disease717862Category
714487 Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome717865Disease
2881 Cutaneous photosensitivity-lethal colitis syndrome717865Disease
717757 Rare immune disease with inflammatory bowel disease717862Category
714423 Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome717757Disease
714496 Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome717757Disease
714477 Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome717757Disease
714493 Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency717757Disease
714472 Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome717757Disease
717868 Rare skin disease with inflammatory bowel disease717862Category
717871 Rare systemic or rheumatologic diseases with inflammatory bowel disease717862Category
717874 Rare inborn error of metabolism with inflammatory bowel disease717862Category
717877 Rare miscellaneous disease with inflammatory bowel disease717862Category
104013 Metabolic disease with intestinal involvement117569, 165655Category
371188 Congenital disorder of glycosylation with intestinal involvement104013Category
209964 Solitary rectal ulcer syndrome117569Disease
294422 Chronic intestinal failure117569, 506216Clinical syndrome
397606 PrP systemic amyloidosis117569, 140474, 280400Disease
398063 Refractory celiac disease117569Disease
436166 Periodic fever-infantile enterocolitis-autoinflammatory syndrome117569, 290842, 324924, 622720Disease
565641 Primary desmosis coli117569Disease
583861 Isolated mesenteric vein thrombosis117569Disease
622099 Superior mesenteric artery syndrome117569, 165711Disease
645793 Spontaneous intestinal perforation117569, 165711Disease
160148 Cap polyposis117569Disease
217067 Pouchitis117569Particular clinical situation in a disease or syndrome
228113 Anal fistula117569, 165711Particular clinical situation in a disease or syndrome
238621 Ileal pouch anal anastomosis related faecal incontinence117569Particular clinical situation in a disease or syndrome
468635 Cryptogenic multifocal ulcerous stenosing enteritis117569, 165655, 506216Disease
477787 Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder117569, 165655, 275736Disease
3130 Satoyoshi syndrome117569, 182228, 79364, 95710Disease
391673 Necrotizing enterocolitis117569Disease
263665 NK-cell enteropathy97935Disease
276142 Rare tumor of salivary glands290849, 97935, 98059Category
276145 Malignant epithelial tumor of salivary glands276142Disease
276148 Benign epithelial tumor of salivary glands276142Disease
300557 Carcinoma of the ampulla of Vater97935, 98059Disease
402029 Primary eosinophilic gastrointestinal disease97935Clinical group
402035 Eosinophilic colitis402029Disease
425003 Inherited digestive cancer-predisposing syndrome140162, 97935Category
99361 Isolated familial medullary thyroid carcinoma100088, 425003Disease
652 Multiple endocrine neoplasia type 1100091, 2207, 276161, 314749, 425003Disease
653 Multiple endocrine neoplasia type 2100088, 276161, 425003Disease
247698 Multiple endocrine neoplasia type 2A100091, 653Clinical subtype
247709 Multiple endocrine neoplasia type 2B100091, 653Clinical subtype
104010 Intestinal polyposis syndrome425003, 506216Clinical group
247798 MUTYH-related polyposis104010Disease
447877 Polymerase proofreading-related polyposis104010Disease
454840 NTHL1-related polyposis104010Disease
480536 MSH3-related polyposis104010Disease
733 Familial adenomatous polyposis104010, 271835, 363314, 716393Disease
2929 Juvenile polyposis syndrome104010, 363314Disease
329971 Generalized juvenile polyposis/juvenile polyposis coli2929Clinical subtype
157794 Hereditary mixed polyposis syndrome104010, 363314Disease
157798 Serrated polyposis syndrome104010, 363314Disease
220460 Attenuated familial adenomatous polyposis104010, 271835, 363314Disease
443909 Hereditary nonpolyposis colon cancer271835, 425003, 589746Clinical group
144 Lynch syndrome443909Disease
440437 Familial colorectal cancer Type X443909Disease
456333 Hereditary neuroendocrine tumor of small intestine425003Disease
583856 Isolated splenic vein thrombosis97935Disease
645859 Primary tuberculosis of the digestive system3389, 97935Disease
696175 Encapsulating peritoneal sclerosis165711, 97935Disease
98053 Rare genetic diseaseCategory
536391 RASopathy98053Category
634511 Mosaic Legius syndrome183466, 536391, 79375Disease
137605 Legius syndrome183466, 536391, 611314, 79375Malformation syndrome
447874 Biological anomaly without phenotypic characterization98053Category
168612 Congenital deficiency in alpha-fetoprotein447874Biological anomaly
168615 Hereditary persistence of alpha-fetoprotein447874Biological anomaly
254704 Genetic hyperferritinemia without iron overload447874Biological anomaly
641343 Imprinting disorders98053Clinical group
99886 Transient neonatal diabetes mellitus224, 641343Disease
68336 Rare genetic tumor98053Category
183487 Genetic skin tumor or hamartoma68336, 68346Category
2396 Encephalocraniocutaneous lipomatosis183484, 183487, 79382Disease
840 Syringocystadenoma papilliferum183487, 79386Disease
3110 Rombo syndrome183487, 79386Disease
2591 Infantile myofibromatosis183487, 206982, 271832, 71209, 79386Disease
618 Familial melanoma183487, 79386Disease
122 Birt-Hogg-Dubé syndrome156610, 183487, 264740, 319328, 363250, 79386Malformation syndrome
493 Familial keratoacanthoma183487, 79386Disease
523 Hereditary leiomyomatosis and renal cell cancer183487, 319328, 589746, 79386Disease
31112 Dermatofibrosarcoma protuberans183487, 271832, 3394, 79386Disease
65748 Multiple self-healing squamous epithelioma183487, 79386Disease
79493 Brooke-Spiegler syndrome183487, 79386Disease
211 Familial cylindromatosis79493Clinical subtype
867 Familial multiple trichoepithelioma79493Clinical subtype
168632 Generalized basaloid follicular hamartoma syndrome183487, 79386Disease
404560 Familial atypical multiple mole melanoma syndrome140162, 183487, 79386Disease
622914 Rare genetic nevus183487Category
35125 Epidermal nevus syndrome294057, 522548, 622914, 98641Disease
497737 Epidermolytic nevus281103, 294057, 622914Disease
497757 MME-related autosomal dominant Charcot Marie Tooth disease type 2294057, 622914, 64746Disease
626 Large/giant congenital melanocytic nevus294057, 622914Disease
64754 Nevus comedonicus syndrome294057, 622914Disease
166286 Porokeratotic eccrine ostial and dermal duct nevus294057, 622914Disease
171723 White sponge nevus294057, 622914Disease
313936 PENS syndrome294057, 622914Disease
538756 Familial multiple discoid fibromas183487, 79386Disease
183527 Genetic bone tumor68336Category
178 Chordoma100101, 183527, 271847, 68411, 95503Disease
435329 Familial ossifying fibroma183527, 68411Disease
183595 Genetic renal tumor68336Category
654 Nephroblastoma183595, 506213, 93619Disease
457246 Clear cell sarcoma of kidney183595, 506213, 93619Disease
183619 Genetic eye tumor101435, 68336Category
357027 Hereditary retinoblastoma140162, 183619, 790Clinical subtype
91481 Ring dermoid of cornea101950, 183619Disease
183734 Genetic gynecological tumor68336Category
227535 Hereditary breast cancer180257, 183734, 626609Disease
271832 Genetic soft tissue tumor68336Category
271835 Genetic digestive tract tumor68336Category
271841 Genetic cardiac tumor68336Category
271844 Genetic urogenital tumor68336Category
1331 Familial prostate cancer156619, 271844, 98058Disease
271847 Genetic neuroendocrine tumor68336Category
404 Familial hyperaldosteronism type II100091, 235936, 271847Disease
29072 Hereditary pheochromocytoma-paraganglioma183637, 271847, 573163Disease
100094 Multiple polyglandular tumor101956, 182130, 183643, 271847Category
97286 Carney-Stratakis syndrome100094Disease
139411 Carney triad100094Disease
276161 Multiple endocrine neoplasia100094Clinical group
276152 Multiple endocrine neoplasia type 4276161Disease
319494 Familial nonmedullary thyroid carcinoma100088, 271847Clinical group
97290 Familial papillary thyroid carcinoma with renal papillary neoplasia319328, 319494Disease
319487 Familial papillary or follicular thyroid carcinoma319494Disease
324299 Multiple paragangliomas associated with polycythemia183637, 250165, 271847, 573163, 98427Disease
322126 Genetic tumor of hematopoietic and lymphoid tissues68336Category
319465 Inherited acute myeloid leukemia322126, 519, 619340Disease
319480 Acute myeloid leukemia with CEBPA somatic mutations322126, 98277Disease
68346 Rare genetic skin disease98053Category
622720 Genetic autoinflammatory syndrome with skin involvement68346Category
617919 F12-associated cold autoinflammatory syndrome290842, 324924, 622720Disease
32960 Tumor necrosis factor receptor 1 associated periodic syndrome290839, 290842, 324924, 622720Disease
90340 Blau syndrome264714, 280926, 280933, 290839, 290842, 324930, 324950, 477808, 522548, 619238, 622720, 79381, 98641Disease
208650 NLRP3-associated autoinflammatory disease290839, 290842, 324924, 622720Clinical group
575 Muckle-Wells syndrome208650, 567556Disease
47045 Familial cold urticaria208650Disease
647815 Keratitis fugax hereditaria208650, 519329Disease
247868 NLRP12-associated hereditary periodic fever syndrome290842, 324924, 622720Disease
294023 Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome165655, 290839, 290842, 324927, 324942, 611314, 619238, 622720, 79359, 79360Disease
324977 Proteasome-associated autoinflammatory syndrome290842, 477647, 481671, 622720, 98305Disease
404546 DITRA290839, 290842, 324927, 324942, 619238, 622720Disease
425120 STING-associated vasculopathy with onset in infancy101944, 156146, 156610, 233655, 280369, 290842, 477647, 481671, 622720Disease
576349 NLRC4-related familial cold autoinflammatory syndrome290842, 324924, 622720Disease
619367 SAMD9L-associated autoinflammatory syndrome264699, 290839, 290842, 477647, 481671, 622720Disease
3243 Sweet syndrome290842, 319719, 324927, 619238, 622720Disease
619363 NOCARH syndrome290842, 324936, 619238, 622720, 664482Disease
674762 Early-onset autoinflammatory syndrome due to A20 haploinsufficiency290839, 290842, 324936, 324953, 619238, 622720Disease
652510 Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa619238, 622720Clinical group
641380 PAPASH syndrome652510, 653434Disease
69126 PAPA syndrome324942, 652510, 653434Disease
289478 PASH syndrome652510, 653434Disease
79385 Unclassified genetic skin disorder68346, 89826Category
1954 Congenital lethal erythroderma79385Disease
2505 Multiple benign circumferential skin creases on limbs611314, 79385Disease
2812 Parana hard skin syndrome79385Disease
2833 Stiff skin syndrome79385Disease
231031 Erythema palmare hereditarium79385Disease
79387 Metabolic disease with skin involvement68346, 89826Category
79388 Mucopolysaccharidosis with skin involvement79387Category
371200 Congenital disorder of glycosylation with skin involvement79387Category
79389 Premature aging68346, 89826Category
2047 Flynn-Aird syndrome522548, 71859, 79389, 98006, 98641Disease
2500 Acrogeria611314, 79389Malformation syndrome
183426 Genetic epidermal disorder68346Category
2841 Hailey-Hailey disease183426, 79359Disease
79357 Hereditary palmoplantar keratoderma183426, 79353Category
307141 Diffuse palmoplantar keratoderma79357Category
307148 Isolated diffuse palmoplantar keratoderma307141Clinical group
98349 Autosomal dominant isolated diffuse palmoplantar keratoderma307148Category
495 Transgrediens et progrediens palmoplantar keratoderma98349Disease
2199 Epidermolytic palmoplantar keratoderma98349Disease
2337 Diffuse palmoplantar keratoderma, Bothnian type98349Disease
369999 Diffuse palmoplantar keratoderma with painful fissures98349Disease
530838 KRT1-related diffuse nonepidermolytic keratoderma98349Disease
98356 Autosomal recessive isolated diffuse palmoplantar keratoderma307148Category
87503 Mal de Meleda98356Disease
140966 Palmoplantar keratoderma, Nagashima type250811, 98356Disease
307711 Disease with diffuse palmoplantar keratoderma as a major feature307141Category
98352 Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature307711Category
316 Progressive symmetric erythrokeratodermia308166, 98352Disease
384 Huriez syndrome98352Disease
86918 Diffuse palmoplantar keratoderma-acrocyanosis syndrome98352Disease
86919 Keratosis palmaris et plantaris-clinodactyly syndrome98352Disease
307773 Autosomal dominant diffuse mutilating palmoplantar keratoderma98352Clinical group
659 Mutilating palmoplantar keratoderma with periorificial keratotic plaques307773Disease
79395 Keratoderma hereditarium mutilans with ichthyosis281082, 307773Disease
281201 Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome281082, 307773Disease
352662 Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome522562, 98352, 98625Disease
538574 Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome140456, 98352Disease
307804 Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature307711Category
363523 Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome307804, 611314, 98027Disease
66631 CEDNIK syndrome281241, 307804, 611314Disease
307837 Focal palmoplantar keratoderma79357Category
307846 Isolated focal palmoplantar keratoderma307837Clinical group
50942 Striate palmoplantar keratoderma307846Disease
79141 Hereditary painful callosities307846Disease
370002 Focal palmoplantar keratoderma with joint keratoses307846Disease
402003 Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering307846Disease
448264 Isolated focal non-epidermolytic palmoplantar keratoderma307846Disease
307871 Disease with focal palmoplantar keratoderma as a major feature307837Category
98353 Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature307871Category
2200 Focal palmoplantar and gingival keratoderma98353Disease
98357 Autosomal recessive disease with focal palmoplantar keratoderma as a major feature307871Category
420686 Woolly hair-palmoplantar keratoderma syndrome434809, 98357Disease
307967 Punctate palmoplantar keratoderma79357Category
2338 Isolated punctate palmoplantar keratoderma307967Clinical group
737 Porokeratosis plantaris palmaris et disseminata183444, 2338, 79358Disease
79501 Punctate palmoplantar keratoderma type 12338Disease
79502 Punctate palmoplantar keratoderma type 22338Disease
307995 Marginal papular palmoplantar keratoderma2338Clinical group
38 Acrokeratoelastoidosis of Costa183441, 228224, 307995, 79356Disease
308013 Focal acral hyperkeratosis307995Disease
444138 Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome2338, 281082Disease
308023 Disease with punctate palmoplantar keratoderma as a major feature307967Category
308031 Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature308023Category
1336 Hyperkeratosis-hyperpigmentation syndrome183466, 308031, 79375Disease
2201 Palmoplantar keratoderma-spastic paralysis syndrome308031Disease
324561 Hypopigmentation-punctate palmoplantar keratoderma syndrome308031Disease
308041 Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature308023Category
2386 Leukoencephalopathy-palmoplantar keratoderma syndrome308041Disease
79360 Other genetic epidermal disease183426Category
482606 X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome441434, 79359, 79360Malformation syndrome
158687 Lethal acantholytic erosive disorder79359, 79360Disease
218 Darier disease79359, 79360Disease
1658 Absence of fingerprints-congenital milia syndrome79359, 79360Disease
1867 Hereditary bullous dystrophy, macular type611314, 79359, 79360Disease
2388 Choreoacanthocytosis207018, 225713, 263440, 68385, 79359, 79360Disease
409 Hyperkeratosis lenticularis perstans79359, 79360Disease
498 Keratosis pilaris atrophicans79359, 79360Clinical group
2340 Keratosis follicularis spinulosa decalvans498Disease
3406 Ulerythema ophryogenesis498Disease
79100 Atrophoderma vermiculata498Disease
50943 Keratolytic winter erythema79359, 79360Disease
90301 Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome181368, 79359, 79360Disease
247353 Generalized pustular psoriasis79359, 79360Disease
369992 Severe dermatitis-multiple allergies-metabolic wasting syndrome79359, 79360, 98050Disease
163927 Pustulosis palmaris et plantaris79359, 79360Disease
163931 Acrodermatitis continua of Hallopeau79359, 79360Disease
79361 Inherited epidermolysis bullosa183426, 79353Category
304 Epidermolysis bullosa simplex79361Clinical group
595346 Epidermolysis bullosa simplex without extracutaneous involvement304Category
412181 Epidermolysis bullosa simplex due to BP230 deficiency595346Disease
412189 Epidermolysis bullosa simplex due to exophilin 5 deficiency595346Disease
79396 Autosomal dominant generalized epidermolysis bullosa simplex, severe form595346Disease
79397 Epidermolysis bullosa simplex with mottled pigmentation595346Disease
79399 Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form595346Disease
79400 Localized epidermolysis bullosa simplex595346Disease
79401 PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement595346Disease
89838 Autosomal recessive generalized epidermolysis bullosa simplex595346Disease
158681 Epidermolysis bullosa simplex with circinate migratory erythema595346Disease
595351 Epidermolysis bullosa simplex with extracutaneous involvement304Category
508529 Intermediate epidermolysis bullosa simplex with cardiomyopathy595351Disease
158684 Epidermolysis bullosa simplex with pyloric atresia595351Disease
2908 Kindler epidermolysis bullosa183490, 79361, 79390Disease
168606 Seborrhea-like dermatitis with psoriasiform elements183426, 79359Disease
183435 Inherited ichthyosis183426, 79354Category
281082 Inherited non-syndromic ichthyosis183435Category
461 Recessive X-linked ichthyosis281082, 98628Disease
317 Erythrokeratodermia variabilis281082, 308166, 522548, 98641Disease
817 Peeling skin syndrome281082Clinical group
263534 Acral peeling skin syndrome817Disease
263543 Generalized peeling skin syndrome817Disease
263553 Peeling skin syndrome type B263543Clinical subtype
263548 Peeling skin syndrome type A263543Clinical subtype
281103 Keratinopathic ichthyosis281082Clinical group
281190 Congenital reticular ichthyosiform erythroderma281103Disease
312 Autosomal dominant epidermolytic ichthyosis281103Disease
455 Superficial epidermolytic ichthyosis281103Disease
79503 Ichthyosis hystrix of Curth-Macklin281103Disease
281139 Annular epidermolytic ichthyosis281103Disease
512103 Autosomal recessive epidermolytic ichthyosis281103Disease
281085 Inherited ichthyosis syndromic form183435Category
281210 X-linked ichthyosis syndrome281085Clinical group
281090 Syndromic recessive X-linked ichthyosis281210Disease
281217 Autosomal ichthyosis syndrome281085Category
281222 Autosomal ichthyosis syndrome with prominent hair abnormalities281217Category
634 Netherton syndrome281222, 331223Disease
59303 Neonatal ichthyosis-sclerosing cholangitis syndrome156607, 281222, 447771Disease
91132 Ichthyosis-hypotrichosis syndrome281222, 481771, 79364Disease
281238 Autosomal ichthyosis syndrome with prominent neurologic signs281217Category
2271 Congenital ichthyosis-microcephalus-tetraplegia syndrome281238Disease
281241 Autosomal ichthyosis syndrome with fatal disease course281217Category
281244 Autosomal ichthyosis syndrome with other associated signs281217Category
3151 Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome281244, 68334Disease
2274 Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome183518, 281244Disease
88621 Ichthyosis-prematurity syndrome281244Disease
183438 Genetic erythrokeratoderma183426Category
2897 Pityriasis rubra pilaris183438, 79355Disease
1955 Spinocerebellar ataxia type 34183438, 79355, 94145Disease
315 Erythrokeratoderma ''en cocardes''183438, 79355Disease
308166 Erythrokeratoderma variabilis progressiva183438, 79355Clinical group
183441 Genetic acrokeratoderma183426Category
79151 Acrokeratosis verruciformis of Hopf183441, 79356Disease
99710 Punctate acrokeratoderma freckle-like pigmentation183441, 79356Disease
183444 Genetic porokeratosis183426Category
735 Porokeratosis of Mibelli183444, 79358Disease
79152 Disseminated superficial actinic porokeratosis183444, 79358Disease
222628 Hereditary poikiloderma183426, 79353Category
221039 Hereditary sclerosing poikiloderma, Weary type222628Disease
221043 Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome206656, 222628, 264740, 264992Disease
221046 Poikiloderma with neutropenia222628, 331184Disease
2907 Hereditary acrokeratotic poikiloderma222628Disease
183447 Genetic epidermal appendage anomaly68346Category
183450 Genetic hair anomaly183447Category
481771 Genetic alopecia183450Category
1008 Alopecia-epilepsy-pyorrhea-intellectual disability syndrome481771, 611314, 79364Disease
701 Alopecia universalis481771, 79364Disease
2850 Alopecia-intellectual disability syndrome481771, 611314, 79364Disease
168 Loose anagen syndrome481771, 79364Disease
444 Marie Unna hereditary hypotrichosis481771, 79364Disease
55654 Hypotrichosis simplex481771, 79364Disease
86819 Atrichia with papular lesions481771, 79364Disease
90368 Hypotrichosis simplex of the scalp481771, 79364Disease
157954 ANE syndrome181387, 481771, 611314, 79364, 95495Disease
217407 Hereditary hypotrichosis with recurrent skin vesicles481771, 79364Disease
79365 Rare disorder with hypertrichosis183450, 79363Category
1021 Amaurosis-hypertrichosis syndrome716405, 79365Disease
769 Rabson-Mendenhall syndrome181368, 79365Malformation syndrome
3387 Isolated anterior cervical hypertrichosis79365Disease
79366 Isolated hair shaft abnormality183450, 79363Category
1410 Uncombable hair syndrome79366Disease
2889 Pili torti79366Disease
169 Ringed hair disease79366Disease
170 Woolly hair79366Disease
573 Monilethrix79366Disease
720 Pili bifurcati79366Disease
79414 Woolly hair nevus79366Disease
79492 Pili gemini79366Disease
79367 Syndromic hair shaft abnormality183450, 79363Category
2891 Pili torti-developmental delay-neurological abnormalities syndrome79367Malformation syndrome
3361 Trichodysplasia-xeroderma syndrome79367Malformation syndrome
434809 Syndrome with woolly hair79367Category
411788 Familial isolated trichomegaly183450, 79363Disease
183454 Genetic nail anomaly183447Category
79369 Isolated nail anomaly183454, 79368Category
2387 Leukonychia totalis79369Disease
79153 Idiopathic trachyonychia79369Disease
217059 Isolated nail clubbing79369Morphological anomaly
280654 Autosomal recessive nail dysplasia79369Disease
79370 Syndromic nail anomaly183454, 79368Category
2045 FLOTCH syndrome79370Disease
210133 Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome79370, 79375Disease
183460 Genetic sebaceous gland anomaly183447Category
841 Sebocystomatosis183460, 79372Disease
542657 Isolated hyperchlorhidrosis183447, 79362Disease
183463 Genetic pigmentation anomaly of the skin68346Category
2435 Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome183463, 611314, 79374Disease
183466 Genetic hyperpigmentation of the skin183463Category
2678 Familial isolated café-au-lait macules183466, 79375Malformation syndrome
41 Dyschromatosis symmetrica hereditaria183466, 79375Disease
241 Dyschromatosis universalis hereditaria183466, 79375Disease
79146 Familial progressive hyperpigmentation183466, 79375Disease
79150 Linear and whorled nevoid hypermelanosis183466, 79375Disease
85453 X-linked reticulate pigmentary disorder183466, 290839, 477647, 481671, 79375, 98628Disease
178307 Reticulate acropigmentation of Kitamura183466, 79375Disease
231040 Familial generalized lentiginosis183466, 79375Disease
508512 Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome183466, 79375Disease
183469 Genetic hypopigmentation of the skin183463Category
2884 Piebaldism183469, 79376Disease
2885 Piebald trait-neurologic defects syndrome183469, 611314, 79376Malformation syndrome
284811 Syndromic oculocutaneous albinism183469, 79376, 98706Category
381 Griscelli syndrome284811, 611314Disease
79476 Griscelli syndrome type 1102005, 381Clinical subtype
79477 Griscelli syndrome type 2183494, 331249, 381, 79391Clinical subtype
79478 Griscelli syndrome type 3381Clinical subtype
280628 Familial progressive hyper- and hypopigmentation183463, 79374Disease
183472 Genetic dermis disorder68346Category
183478 Genetic skin vascular disorder183472Category
481662 Familial Chilblain lupus163531, 182228, 183478, 477647, 477771, 481671, 79379Disease
656071 Atrophic papulosis183478, 79379Disease
656085 Benign atrophic papulosis656071Clinical subtype
679 Malignant atrophic papulosis182222, 271870, 656071Clinical subtype
90280 Chilblain lupus163531, 183478, 79379Disease
313846 Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome140162, 183478, 79379Disease
183481 Genetic mixed dermis disorder183472Category
228215 Genetic dermis elastic tissue disorder183472, 79378Category
53296 Familial cutaneous collagenoma228215Disease
79147 Familial reactive perforating collagenosis228215Disease
91135 Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency228215Disease
228277 Familial anetoderma228215Disease
436274 Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa228215, 716405Disease
1659 Dermatoleukodystrophy228215, 68356Disease
477808 Other genetic dermis disorder183472Category
1764 Familial dysautonomia140477, 182058, 448426, 477808, 519286, 522568, 79381, 98604Disease
2987 Antecubital pterygium syndrome477808, 79381Malformation syndrome
79149 Dermochondrocorneal dystrophy477808, 79381, 98628Disease
140933 Linear atrophoderma of Moulin477808, 79381Disease
353220 Familial primary localized cutaneous amyloidosis137807, 477808Disease
357225 Primary non-essential cutis verticis gyrata477808, 611314, 671Disease
468666 Isolated generalized anhidrosis with normal sweat glands183484, 477808, 79381, 79382Disease
183484 Genetic subcutaneous tissue disorder68346Category
2398 Multiple symmetric lipomatosis183484, 79382Disease
529 Roch-Leri mesosomatous lipomatosis183484, 79382Disease
98305 Genetic lipodystrophy156638, 183484, 90970Category
1979 Lipodystrophy due to peptidic growth factors deficiency98305Disease
98306 Familial partial lipodystrophy98305Clinical group
79083 PPARG-related familial partial lipodystrophy98306Disease
79084 Familial partial lipodystrophy, Köbberling type300763, 98306Disease
79085 AKT2-related familial partial lipodystrophy98306Disease
280356 PLIN1-related familial partial lipodystrophy181368, 98306Disease
280365 Autosomal semi-dominant severe lipodystrophic laminopathy181368, 300763, 98306Disease
435651 CIDEC-related familial partial lipodystrophy98306Disease
435660 LIPE-related familial partial lipodystrophy98306Disease
363400 Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome182070, 183500, 98305Disease
686999 Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome140459, 611314, 98305Disease
199276 Familial multiple lipomatosis183484, 79382Disease
199279 Familial angiolipomatosis183484, 79382Disease
183490 Genetic photodermatosis68346Category
178338 UV-sensitive syndrome183490, 79390Disease
183494 Genetic immune deficiency with skin involvement68346Category
906 Wiskott-Aldrich syndrome183422, 183494, 331217, 506219, 79391, 98456Disease
379 Chronic granulomatous disease183494, 264714, 280926, 280930, 280933, 522504, 674896, 79391Disease
1334 Chronic mucocutaneous candidiasis183494, 183710, 79391Disease
2314 Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency183494, 331223, 79391Disease
1839 Hereditary mucoepithelial dysplasia183494, 522548, 79391, 98641Malformation syndrome
302 Inherited epidermodysplasia verruciformis140162, 183494, 183710, 79391Disease
314 Erythroderma desquamativum183494, 79391Disease
157949 Combined immunodeficiency with granulomatosis183494, 480549, 79391Disease
51636 WHIM syndrome183494, 183710, 79391Disease
641368 Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency183494, 331223, 79391Disease
656912 Autosomal dominant combined immunodeficiency due to ERBIN deficiency183494, 331223, 79391Disease
656300 Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency183494, 331223, 79391Disease
656326 Autosomal recessive combined immunodeficiency due to IL6R deficiency183494, 331223, 79391Disease
658946 Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency169355, 183494, 324933, 79391Disease
596759 Combined immunodeficiency due to RELA haploinsufficiency183494, 324936, 480549, 79391Disease
182734 Genetic urticaria68346Clinical group
493342 Vibratory urticaria182734, 79384Disease
71859 Rare genetic neurological disorder98053Category
98743 Genetic neurological channelopathy of the central nervous system71859Category
98744 Neurological channelopathy of the central nervous system due to a genetic sodium channel defect98743Category
36387 Genetic epilepsy with febrile seizure plus309, 611314, 693802, 98744, 98749Disease
681 Hypokalemic periodic paralysis206976, 371433, 98738, 98740, 98741, 98744Disease
293181 Epilepsy of infancy with migrating focal seizures182083, 693802, 98744Disease
2382 Lennox-Gastaut syndrome611314, 98259, 98744, 98749Disease
569 Familial or sporadic hemiplegic migraine183503, 183509, 71281, 98022, 98744, 98745Disease
442835 Non-specific early-onset epileptic encephalopathy166472, 611314, 98744, 98745, 98746, 98749Disease
1934 Early infantile developmental and epileptic encephalopathy182079, 182083, 611314, 693802, 98744, 98746Clinical syndrome
33069 Dravet syndrome182083, 611314, 693802, 98744, 98749Disease
306 Self-limited infantile epilepsy166475, 693802, 98744, 98746Disease
140927 Self-limited neonatal-infantile epilepsy166475, 693802, 98744, 98746Disease
98745 Neurological channelopathy of the central nervous system due to a genetic calcium channel defect98743Category
64280 Childhood absence epilepsy98259, 98745, 98749Disease
458803 Spinocerebellar ataxia type 4294148, 98745Disease
97 Familial paroxysmal ataxia211062, 98745Disease
98758 Spinocerebellar ataxia type 694148, 98745Disease
98746 Neurological channelopathy of the central nervous system due to a genetic potassium channel defect98743Category
166108 Birk-Barel syndrome611314, 98746Disease
435438 Progressive myoclonic epilepsy type 798261, 98746Disease
98809 Paroxysmal kinesigenic dyskinesia1431, 98746Disease
98768 Spinocerebellar ataxia type 1394145, 98746Disease
439218 KCNQ2-related developmental and epileptic encephalopathy611314, 693802, 98746Disease
98784 Sleep-related hypermotor epilepsy699645, 98746, 98748Disease
1949 Self-limited neonatal epilepsy693802, 98746Disease
98772 Spinocerebellar ataxia type 19/2294145, 98746Disease
37612 Episodic ataxia type 1166472, 211062, 98746Disease
79137 Generalized epilepsy-paroxysmal dyskinesia syndrome309, 98746Disease
98747 Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect98743Category
98748 Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect98743Category
98749 Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect98743Category
307 Juvenile myoclonic epilepsy306759, 699645, 98749Disease
1945 Self-limited epilepsy with centrotemporal spikes98259, 98749Disease
538238 Neurological channelopathy of the central nervous system due to a genetic chloride channel defect98743Category
363540 Leukoencephalopathy with mild cerebellar ataxia and white matter edema538238, 68356Disease
485350 CLCN4-related X-linked intellectual disability syndrome538238, 611314Disease
68356 Leukodystrophy71859, 98006Category
495844 C11ORF73-related autosomal recessive hypomyelinating leukodystrophy441434, 68356Disease
466934 VPS11-related autosomal recessive hypomyelinating leukodystrophy611314, 68356Disease
58 Alexander disease182070, 183500, 68356Disease
363717 Alexander disease type I58Clinical subtype
363722 Alexander disease type II519343, 522508, 58Clinical subtype
702 Pelizaeus-Merzbacher disease182070, 183500, 441434, 519341, 522506, 611314, 68356Disease
280210 Pelizaeus-Merzbacher disease, connatal form702Clinical subtype
280219 Pelizaeus-Merzbacher disease, classic form702Clinical subtype
280224 Pelizaeus-Merzbacher disease, transitional form702Clinical subtype
280229 Pelizaeus-Merzbacher disease in female carriers702Clinical subtype
280234 Null syndrome702Clinical subtype
51 Aicardi-Goutières syndrome477647, 477771, 481671, 611314, 68356Disease
135 CACH syndrome68356Disease
99853 Ovarioleukodystrophy135Clinical subtype
99854 Cree leukoencephalopathy135Clinical subtype
157713 Congenital or early infantile CACH syndrome135Clinical subtype
157716 Late infantile CACH syndrome135Clinical subtype
157719 Juvenile or adult CACH syndrome135Clinical subtype
2478 Megalencephalic leukoencephalopathy with subcortical cysts68356Disease
85136 Cystic leukoencephalopathy without megalencephaly68356Disease
85163 Hypomyelination-congenital cataract syndrome522548, 611314, 68356, 98641Malformation syndrome
99015 Spastic paraplegia type 2320350, 441434, 68356Disease
99852 Ravine syndrome68356Disease
139441 Hypomyelination with atrophy of basal ganglia and cerebellum68356Disease
139444 Leukoencephalopathy with bilateral anterior temporal lobe cysts68356Disease
139447 Progressive cavitating leukoencephalopathy68356Disease
280270 Pelizaeus-Merzbacher-like disease68356Disease
280282 Pelizaeus-Merzbacher-like disease due to GJC2 mutation280270Clinical subtype
280288 Pelizaeus-Merzbacher-like disease due to HSPD1 mutation280270Clinical subtype
280293 Pelizaeus-Merzbacher-like disease due to AIMP1 mutation280270Clinical subtype
289494 4H leukodystrophy68356Disease
77295 Odontoleukodystrophy289494Clinical subtype
88637 Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome181387, 289494, 611314Clinical subtype
137639 Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome289494Clinical subtype
447896 Tremor-ataxia-central hypomyelination syndrome183518, 289494, 441434Clinical subtype
313808 Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia276058, 68356, 98534Disease
363412 Hypomyelination with brain stem and spinal cord involvement and leg spasticity68356Disease
438114 RARS-related autosomal recessive hypomyelinating leukodystrophy611314, 68356Disease
502444 Alkaline ceramidase 3 deficiency68356, 68385Disease
527497 NKX6-2-related autosomal recessive hypomyelinating leukodystrophy316240, 611314, 68356Disease
599376 Hypomyelination of early myelinating structures183518, 611314, 68356Disease
662229 Episodic memory defect leukoencephalopathy68356Disease
68385 Neurometabolic disease71859, 98006Category
385 Neurodegeneration with brain iron accumulation276058, 306695, 307058, 68385, 98534Clinical group
3464 Woodhouse-Sakati syndrome181381, 181387, 181441, 183625, 370106, 385, 611314Disease
289560 Mitochondrial membrane protein-associated neurodegeneration385, 441434Disease
306674 Kufor-Rakeb syndrome385, 514980, 98687Disease
329284 Beta-propeller protein-associated neurodegeneration385, 611314Disease
397725 COASY protein-associated neurodegeneration385, 611314Disease
496756 Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome140468, 385, 611314, 98098Disease
371047 Congenital disorder of glycosylation with neurological involvement68385Category
565899 POMGNT2-related limb-girdle muscular dystrophy R24102015, 207113, 371047, 611314Disease
263516 Progressive myoclonic epilepsy type 3371047, 611314, 98261Disease
371071 Congenital disorder of glycosylation with epilepsy as a major feature166481, 371047Category
280333 Alpha-dystroglycan-related limb-girdle muscular dystrophy R16102015, 371040, 371047, 611314Disease
46348 Paroxysmal extreme pain disorder71859, 98006Disease
98497 Genetic peripheral neuropathy71859, 98496Category
459033 Ataxia-oculomotor apraxia type 4370106, 98099, 98497, 98688Disease
166 Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy98497Category
2926 Digital extensor muscle aplasia-polyneuropathy166Malformation syndrome
431320 Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder100981, 166, 441434Clinical group
320406 Spastic paraplegia-optic atrophy-neuropathy syndrome431320Disease
431329 Autosomal recessive spastic paraplegia type 57431320Disease
468661 Autosomal recessive spastic paraplegia type 74431320Disease
476109 Axonal hereditary motor and sensory neuropathy166Clinical group
91024 Autosomal recessive axonal hereditary motor and sensory neuropathy476109Clinical group
466775 Autosomal recessive Charcot-Marie-Tooth disease type 2X91024Disease
466794 Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome101939, 156604, 611314, 91024, 98099Disease
101101 Charcot-Marie-Tooth disease type 2B291024Disease
101102 Charcot-Marie-Tooth disease type 2H91024Disease
228374 Charcot-Marie-Tooth disease type 2B591024Disease
300319 Charcot-Marie-Tooth disease type 2P64746, 91024Disease
324442 Autosomal recessive axonal neuropathy with neuromyotonia91024Disease
397968 Charcot-Marie-Tooth disease type 2R91024Disease
423894 Microcephaly-complex motor and sensory axonal neuropathy syndrome91024Disease
443073 Charcot-Marie-Tooth disease type 2S91024Disease
443950 DNAJB2-related Charcot-Marie-Tooth disease type 291024Disease
90118 Severe early-onset axonal neuropathy due to MFN2 deficiency91024Disease
90119 Hereditary motor and sensory neuropathy with acrodystrophy91024Disease
98856 Charcot-Marie-Tooth disease type 2B1300758, 91024Disease
101097 Autosomal recessive Charcot-Marie-Tooth disease with hoarseness91024Disease
90120 Hereditary motor and sensory neuropathy type 6140456, 91024Disease
495274 Charcot-Marie-Tooth disease type 2T91024Disease
538096 Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy91024Disease
538101 Congenital axonal neuropathy with encephalopathy91024Disease
700508 Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy91024Disease
140456 Autosomal dominant hereditary axonal motor and sensory neuropathy476109Category
64746 Autosomal dominant Charcot-Marie-Tooth disease type 2140456Clinical group
99936 Autosomal dominant Charcot-Marie-Tooth disease type 2B64746Disease
99937 Autosomal dominant Charcot-Marie-Tooth disease type 2C64746Disease
99938 Autosomal dominant Charcot-Marie-Tooth disease type 2D64746Disease
99939 Autosomal dominant Charcot-Marie-Tooth disease type 2E64746Disease
99940 Autosomal dominant Charcot-Marie-Tooth disease type 2F64746Disease
99942 Autosomal dominant Charcot-Marie-Tooth disease type 2I64746Disease
99943 Autosomal dominant Charcot-Marie-Tooth disease type 2J64746Disease
99944 Autosomal dominant Charcot-Marie-Tooth disease type 2K64746Disease
99945 Autosomal dominant Charcot-Marie-Tooth disease type 2L64746Disease
99946 Autosomal dominant Charcot-Marie-Tooth disease type 2A164746Disease
99947 Autosomal dominant Charcot-Marie-Tooth disease type 2A264746Disease
228174 Autosomal dominant Charcot-Marie-Tooth disease type 2N64746Disease
228179 Autosomal dominant Charcot-Marie-Tooth disease type 2M64746Disease
284232 Autosomal dominant Charcot-Marie-Tooth disease type 2O64746Disease
324611 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation64746Disease
329258 Autosomal dominant Charcot-Marie-Tooth disease type 2Q64746Disease
397735 Autosomal dominant Charcot-Marie-Tooth disease type 2U64746Disease
401964 Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons64746Disease
435387 Autosomal dominant Charcot-Marie-Tooth disease type 2Y64746Disease
435819 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation64746Disease
447964 Autosomal dominant Charcot-Marie-Tooth disease type 2V64746Disease
466768 Autosomal dominant Charcot-Marie-Tooth disease type 2Z64746Disease
487814 Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation64746Disease
488333 Autosomal dominant Charcot-Marie-Tooth disease type 2W64746Disease
521414 Autosomal dominant Charcot-Marie-Tooth disease type 2DD64746Disease
64751 Hereditary motor and sensory neuropathy type 5140456Disease
90117 Hereditary motor and sensory neuropathy, Okinawa type140456Disease
476116 Demyelinating hereditary motor and sensory neuropathy166Clinical group
140453 Autosomal dominant hereditary demyelinating motor and sensory neuropathy476116Category
3115 Roussy-Lévy syndrome140453Disease
65753 Charcot-Marie-Tooth disease type 1140453Clinical group
101082 Charcot-Marie-Tooth disease type 1B65753Disease
101083 Charcot-Marie-Tooth disease type 1C65753Disease
101084 Charcot-Marie-Tooth disease type 1D65753Disease
101085 Charcot-Marie-Tooth disease type 1F65753Disease
84093 Hereditary thermosensitive neuropathy140453Disease
140481 Autosomal dominant slowed nerve conduction velocity140453Disease
476394 PMP2-related Charcot-Marie-Tooth disease type 1140453Disease
280598 Hereditary sensorimotor neuropathy with hyperelastic skin140453Disease
64748 Dejerine-Sottas syndrome140453, 140459Disease
140459 Autosomal recessive hereditary demyelinating motor and sensory neuropathy476116Category
64749 Charcot-Marie-Tooth disease type 4140459Clinical group
99948 Charcot-Marie-Tooth disease type 4A64749Disease
99949 Charcot-Marie-Tooth disease type 4C64749Disease
99950 Charcot-Marie-Tooth disease type 4D64749Disease
99951 Charcot-Marie-Tooth disease type 4E64749Disease
99952 Charcot-Marie-Tooth disease type 4F64749Disease
99953 Charcot-Marie-Tooth disease type 4G64749Disease
99954 Charcot-Marie-Tooth disease type 4H64749Disease
99955 Charcot-Marie-Tooth disease type 4B164749Disease
99956 Charcot-Marie-Tooth disease type 4B264749Disease
139515 Charcot-Marie-Tooth disease type 4J64749Disease
363981 Charcot-Marie-Tooth disease type 4B364749Disease
453533 Polyendocrine-polyneuropathy syndrome140459, 177107, 181381, 181387, 611314Disease
476123 Intermediate Charcot-Marie-Tooth disease166Clinical group
90114 Autosomal dominant intermediate Charcot-Marie-Tooth disease476123Clinical group
93114 Autosomal dominant intermediate Charcot-Marie-Tooth disease type E567562, 90114Disease
100043 Autosomal dominant intermediate Charcot-Marie-Tooth disease type A90114Disease
100044 Autosomal dominant intermediate Charcot-Marie-Tooth disease type B90114Disease
100045 Autosomal dominant intermediate Charcot-Marie-Tooth disease type C90114Disease
100046 Autosomal dominant intermediate Charcot-Marie-Tooth disease type D90114Disease
324585 Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain90114Disease
352670 Autosomal dominant intermediate Charcot-Marie-Tooth disease type F90114Disease
268337 Autosomal recessive intermediate Charcot-Marie-Tooth disease476123Clinical group
217055 Autosomal recessive intermediate Charcot-Marie-Tooth disease type A268337Disease
254334 Autosomal recessive intermediate Charcot-Marie-Tooth disease type B268337Disease
369867 Autosomal recessive intermediate Charcot-Marie-Tooth disease type C268337Disease
643 Giant axonal neuropathy611314, 98497Disease
2809 Familial recurrent peripheral facial palsy98497Disease
53739 Distal hereditary motor neuropathy98497, 98505Clinical group
140465 Autosomal dominant distal hereditary motor neuropathy53739Category
1216 Autosomal dominant congenital benign spinal muscular atrophy140465Disease
100998 Autosomal dominant spastic paraplegia type 17100979, 140465Disease
139518 Distal hereditary motor neuropathy type 1140465Disease
139525 Distal hereditary motor neuropathy type 2140465Disease
139536 Distal hereditary motor neuropathy type 5140465Disease
139589 Distal hereditary motor neuropathy type 7140465Disease
476093 HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome140465, 593Disease
140468 Autosomal recessive distal hereditary motor neuropathy53739Category
98920 Spinal muscular atrophy with respiratory distress type 1140468Disease
139547 Distal spinal muscular atrophy type 3140468Disease
139552 Distal hereditary motor neuropathy, Jerash type140468Disease
314485 Young adult-onset distal hereditary motor neuropathy140468Disease
404538 X-linked distal hereditary motor neuropathy53739Category
404521 Spinal muscular atrophy with respiratory distress type 2404538Disease
64753 Spinocerebellar ataxia with axonal neuropathy type 2519341, 522506, 98097, 98497Disease
94124 Spinocerebellar ataxia with axonal neuropathy type 198097, 98497Disease
140471 Hereditary sensory and autonomic neuropathy98497Clinical group
139583 X-linked hereditary sensory and autonomic neuropathy with deafness140471Disease
140474 Autosomal dominant hereditary sensory and autonomic neuropathy140471Category
90026 Primary erythromelalgia140474Disease
139564 Hereditary sensory and autonomic neuropathy type 1B140474Disease
391397 Hereditary sensory and autonomic neuropathy type 7140474Disease
653728 Congenital insensitivity to pain syndrome, Marsili type140474, 140477Disease
140477 Autosomal recessive hereditary sensory and autonomic neuropathy140471Category
642 Hereditary sensory and autonomic neuropathy type 4140477, 611314Disease
970 Hereditary sensory and autonomic neuropathy type 2140477Disease
64752 Hereditary sensory and autonomic neuropathy type 5140477Disease
88642 Congenital insensitivity to pain-anosmia-neuropathic arthropathy140477Disease
139573 Hereditary sensory and autonomic neuropathy with deafness and global delay140477Disease
139578 Mutilating hereditary sensory neuropathy with spastic paraplegia100981, 140477Disease
314381 Hereditary sensory and autonomic neuropathy type 6140477Disease
401993 Cold-induced sweating syndrome-hyperthermia spectrum140477Clinical group
1545 Crisponi syndrome401993Malformation syndrome
157820 Cold-induced sweating syndrome401993Disease
603694 KLHL7-related Crisponi/cold-induced sweating-like syndrome401993, 603699, 716405Disease
320385 Hereditary sensory and autonomic neuropathy due to TECPR2 mutation100981, 140477, 611314Disease
478664 Hereditary sensory and autonomic neuropathy type 8140477Disease
453510 Congenital insensitivity to pain with severe intellectual disability140477, 611314Disease
217399 Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation140471Disease
169464 Primary CD59 deficiency459348, 98364, 98497Disease
207015 Rare hereditary disease with peripheral neuropathy98497Category
207018 Rare hereditary metabolic disease with peripheral neuropathy207015Category
225703 Mitochondrial disease with peripheral neuropathy207018Category
207021 Rare hereditary systemic disease with peripheral neuropathy207015Category
85448 AGel amyloidosis207021, 444116, 69, 98628Disease
485418 EMILIN-1-related connective tissue disease207021Disease
207025 Rare hereditary neurologic disease with peripheral neuropathy207015Category
207028 Cerebellar ataxia with peripheral neuropathy207025Category
504476 Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome207028, 98036, 98099Disease
694922 Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome166472, 207028, 98098Disease
589522 Spinocerebellar ataxia type 46207028, 94145Disease
610573 CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome182070, 183500, 207025, 611314Disease
352723 Attenuated Chédiak-Higashi syndrome182070, 183500, 207015Disease
231013 Congenital trigeminal anesthesia519349, 522510, 98497Disease
306577 Hereditary sodium channelopathy-related small fibers neuropathy98497Disease
391384 Familial episodic pain syndrome98497Disease
391389 Familial episodic pain syndrome with predominantly upper body involvement391384Clinical subtype
391392 Familial episodic pain syndrome with predominantly lower limb involvement391384Clinical subtype
158124 Genetic dementia71859Category
482072 HTRA1-related cerebral small vessel disease158124, 477754, 89043Clinical group
199354 Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy482072Disease
482077 HTRA1-related autosomal dominant cerebral small vessel disease482072Disease
1980 Bilateral striopallidodentate calcinosis158124, 306666, 307055, 611314, 89043Disease
98543 Metabolic disease with dementia158124, 89043Category
98544 Cerebral lipidosis with dementia98543Category
276058 Genetic neurodegenerative disease with dementia158124, 183500Category
54247 Posterior cortical atrophy276058, 98534Disease
399 Huntington disease276058, 306719, 519347, 522522, 98534Disease
1020 Early-onset autosomal dominant Alzheimer disease276058, 98534Disease
98538 Ataxia with dementia276058, 98534Category
98539 Early-onset ataxia with dementia98538Category
1172 Autosomal recessive cerebellar ataxia183518, 98539Clinical group
88644 Autosomal recessive ataxia, Beauce type1172, 611314Disease
98095 Autosomal recessive congenital cerebellar ataxia1172Category
1170 Autosomal recessive cerebelloparenchymal disorder type 3522548, 611314, 98095, 98641Disease
1766 Dysequilibrium syndrome611314, 98095Disease
94122 Cerebellar ataxia, Cayman type611314, 98095Disease
140874 Joubert syndrome and related disorders519341, 522506, 98095Category
453521 Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency611314, 98095Disease
512260 Congenital cerebellar ataxia due to RNU12 mutation611314, 98095Disease
98096 Autosomal recessive metabolic cerebellar ataxia1172Category
98097 Autosomal recessive cerebellar ataxia due to a DNA repair defect1172Category
1168 Ataxia-oculomotor apraxia type 1519341, 522506, 98097Disease
251347 Ataxia-telangiectasia-like disorder183422, 252190, 611314, 79379, 98097Disease
420741 RIDDLE syndrome169346, 611314, 98097Malformation syndrome
98098 Autosomal recessive degenerative and progressive cerebellar ataxia1172Category
1177 Early-onset cerebellar ataxia with retained tendon reflexes98098Disease
88628 Posterior column ataxia-retinitis pigmentosa syndrome611314, 98098Disease
98099 Autosomal recessive syndromic cerebellar ataxia1172Category
95434 Autosomal recessive cerebellar ataxia-movement disorder syndrome98099Disease
284271 Autosomal recessive cerebellar ataxia-psychomotor delay syndrome611314, 98099Disease
284289 Adult-onset autosomal recessive cerebellar ataxia1172, 611314Disease
284324 Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia1172Disease
284332 Infantile-onset autosomal recessive nonprogressive cerebellar ataxia1172Disease
352403 Spectrin-associated autosomal recessive cerebellar ataxia1172, 611314Disease
404481 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome1172, 166472, 611314Clinical group
284282 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency404481Disease
404493 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency404481Disease
404499 Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency404481Disease
412057 Autosomal recessive cerebellar ataxia due to STUB1 deficiency1172, 611314Disease
98540 Late-onset ataxia with dementia98538Category
99 Autosomal dominant cerebellar ataxia183518, 98540Category
94145 Autosomal dominant cerebellar ataxia type I99Clinical group
98773 Spinocerebellar ataxia type 21611314, 94145Disease
101108 Spinocerebellar ataxia type 2394145Disease
101110 Spinocerebellar ataxia type 2094145Disease
101111 Spinocerebellar ataxia type 2594145Disease
208513 Spinocerebellar ataxia type 2994145Disease
276183 Spinocerebellar ataxia type 32611314, 94145Disease
276193 Spinocerebellar ataxia type 3594145Disease
276198 Spinocerebellar ataxia type 3694145Disease
314647 Non-progressive cerebellar ataxia with intellectual disability611314, 94145Disease
363710 Spinocerebellar ataxia type 3794145Disease
423275 Spinocerebellar ataxia type 4094145Disease
98755 Spinocerebellar ataxia type 1158266, 519341, 522506, 94145Disease
98756 Spinocerebellar ataxia type 2158266, 519341, 522506, 94145Disease
98757 Spinocerebellar ataxia type 3158266, 94145Disease
276238 Machado-Joseph disease type 198757Clinical subtype
276241 Machado-Joseph disease type 298757Clinical subtype
276244 Machado-Joseph disease type 398757Clinical subtype
98759 Spinocerebellar ataxia type 17158266, 306695, 307058, 94145Disease
98760 Spinocerebellar ataxia type 894145Disease
98762 Spinocerebellar ataxia type 1294145Disease
98763 Spinocerebellar ataxia type 14611314, 94145Disease
98764 Spinocerebellar ataxia type 27A94145Disease
98765 Spinocerebellar ataxia type 494145Disease
98769 Spinocerebellar ataxia type 15/1694145Disease
98771 Spinocerebellar ataxia type 1894145Disease
497764 Spinocerebellar ataxia type 4394145Disease
589515 PUM1-associated developmental disability-ataxia-seizure syndrome166472, 611314, 94145Disease
631103 Spinocerebellar ataxia type 4894145Disease
675216 Spinocerebellar ataxia type 27B94145Disease
631106 Spinocerebellar ataxia type 4994145Disease
94148 Autosomal dominant cerebellar ataxia type III99Clinical group
589527 Spinocerebellar ataxia type 4594148Disease
631095 Spinocerebellar ataxia type 4494148Disease
98766 Spinocerebellar ataxia type 594148Disease
98767 Spinocerebellar ataxia type 1194148Disease
101112 Spinocerebellar ataxia type 2694148Disease
211017 Spinocerebellar ataxia type 3094148Disease
217012 Spinocerebellar ataxia type 3194148Disease
458798 Spinocerebellar ataxia type 4194148Disease
94149 Autosomal dominant cerebellar ataxia type IV99Clinical group
101 Dentatorubral pallidoluysian atrophy158266, 94149Disease
98761 Spinocerebellar ataxia type 1094149Disease
208508 Autosomal dominant cerebellar ataxia type II99Clinical group
94147 Spinocerebellar ataxia type 7208508, 98687Disease
642747 PUM1-related cerebellar ataxia99Disease
248111 Juvenile Huntington disease276058, 306719, 519347, 522522, 98534Disease
276061 Genetic frontotemporal degeneration with dementia276058Category
52430 Inclusion body myopathy with Paget disease of bone and frontotemporal dementia206662, 276061, 98535Disease
683 Progressive supranuclear palsy276061, 306708, 98535, 98687Disease
99750 Atypical progressive supranuclear palsy syndrome683Clinical subtype
240085 Progressive supranuclear palsy-predominant parkinsonism syndrome306666, 99750Clinical subtype
240094 Progressive supranuclear palsy-pure akinesia with gait freezing syndrome99750Clinical subtype
240103 Progressive supranuclear palsy-corticobasal syndrome99750Clinical subtype
240112 Progressive supranuclear palsy-progressive non-fluent aphasia syndrome99750Clinical subtype
240071 Classic progressive supranuclear palsy syndrome683Clinical subtype
282 Frontotemporal dementia276061, 98535Clinical group
100069 Semantic dementia282, 95432Disease
100070 Progressive non-fluent aphasia282, 306708, 95432Disease
275864 Behavioral variant of frontotemporal dementia282, 306708Disease
275872 Frontotemporal dementia with motor neuron disease276061, 306708, 98535Disease
401901 Huntington disease-like syndrome due to C9ORF72 expansions276058, 306719, 98534Disease
412066 PRKAR1B-related neurodegenerative dementia with intermediate filaments276058, 98534Disease
439254 ITM2B amyloidosis276058, 444116, 69, 98534Disease
97345 ABri amyloidosis439254Clinical subtype
97346 ADan amyloidosis439254Clinical subtype
411602 Hereditary late-onset Parkinson disease182058, 276058, 306666, 307055, 448426, 98534Disease
2289 Neuronal intranuclear inclusion disease276058, 98534Disease
280400 Inherited human prion disease276058, 56970Category
466 Fatal familial insomnia280400Disease
157941 Huntington disease-like 1280400, 306719Disease
282166 Inherited Creutzfeldt-Jakob disease280400, 306695, 307058Disease
356 Gerstmann-Straussler-Scheinker syndrome280400Disease
280397 Familial Alzheimer-like prion disease280400Disease
263440 Neuroacanthocytosis158266, 276058, 306695, 307058, 98534Clinical group
98934 Huntington disease-like 2263440Disease
98549 Rare cerebrovascular dementia158124, 89043Category
85458 Hereditary cerebral amyloid angiopathy444116, 477754, 69, 98549Disease
100006 ABeta amyloidosis, Dutch type85458Clinical subtype
100008 ACys amyloidosis85458Clinical subtype
324703 ABetaL34V amyloidosis85458Clinical subtype
324708 ABeta amyloidosis, Iowa type85458Clinical subtype
324713 ABeta amyloidosis, Italian type85458Clinical subtype
324718 ABetaA21G amyloidosis85458Clinical subtype
324723 ABeta amyloidosis, Arctic type85458Clinical subtype
136 Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy477754, 716459, 717348, 98549Disease
575553 Cathepsin A-related arteriopathy-strokes-leukoencephalopathy477754, 98549Disease
164736 Familial advanced sleep-phase syndrome68354, 71859Disease
168778 Rare pervasive developmental disorder71859, 98033Category
778 Rett syndrome166472, 168778, 306765, 611314Disease
3095 Atypical Rett syndrome166472, 168778, 306765, 611314Disease
168782 Childhood disintegrative disorder168778Disease
180772 Rare disease with autism168778Category
329195 Developmental delay with autism spectrum disorder and gait instability180772Disease
500545 Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract166472, 180772, 522548, 611314, 98641Disease
589547 GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder180772, 611314Disease
199627 Atypical autism168778Disease
600663 NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance168778, 611314, 68354Malformation syndrome
561854 FOXG1 syndrome166472, 168778, 306765, 611314Disease
598164 FOXG1 syndrome due to intragenic alteration561854Clinical subtype
505652 CDKL5-deficiency disorder168778, 306765, 611314, 693802Disease
178506 Interstitial lung disease-brain calcification syndrome71859, 98006Disease
183497 Genetic neuromuscular disease71859Category
98495 Genetic neuromuscular junction disease183497, 98491Category
98505 Genetic motor neuron disease183497, 98503Category
85146 Neurogenic scapuloperoneal syndrome, Kaeser type209041, 98505Disease
137867 Madras motor neuron disease98505Disease
206701 Bulbospinal muscular atrophy98505Category
206704 Bulbospinal muscular atrophy of childhood206701Clinical group
206707 Bulbospinal muscular atrophy of adult206701Clinical group
481 Kennedy disease182070, 183500, 206707, 399685Disease
206710 Generalized bulbospinal muscular atrophy206701Clinical group
1217 Spinal atrophy-ophthalmoplegia-pyramidal syndrome206710Disease
206580 Autosomal recessive lower motor neuron disease with childhood onset206710Disease
207012 Spinal muscular atrophy associated with central nervous system anomaly206701Clinical group
211037 Autosomal dominant proximal spinal muscular atrophy98505Clinical group
209335 Autosomal dominant adult-onset proximal spinal muscular atrophy211037Disease
276435 Lower motor neuron syndrome with late-adult onset211037Disease
363447 Autosomal dominant childhood-onset proximal spinal muscular atrophy211037Disease
209341 DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy363447Etiological subtype
363454 BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy363447Etiological subtype
247604 Juvenile primary lateral sclerosis98505Disease
293168 Infantile-onset ascending hereditary spastic paralysis98505Disease
300605 Juvenile amyotrophic lateral sclerosis98505Disease
357043 Amyotrophic lateral sclerosis type 4182070, 183500, 98505Disease
431255 Scapuloperoneal spinal muscular atrophy98505Disease
70 Proximal spinal muscular atrophy98505Disease
83330 Proximal spinal muscular atrophy type 170Clinical subtype
83418 Proximal spinal muscular atrophy type 270Clinical subtype
83419 Proximal spinal muscular atrophy type 370Clinical subtype
83420 Proximal spinal muscular atrophy type 470Clinical subtype
2590 Spinal muscular atrophy-progressive myoclonic epilepsy syndrome98261, 98505Disease
206634 Genetic skeletal muscle disease183497, 98472Category
599 Distal myopathy206634Category
700143 X-linked distal myopathy599Category
700163 SMPX-related distal myopathy700143Disease
206650 Autosomal dominant distal myopathy599Category
603 Distal myopathy, Welander type206650Disease
609 Tibial muscular dystrophy206650, 209053Disease
600 Vocal cord and pharyngeal distal myopathy206650Disease
59135 Laing distal myopathy206650, 209185Disease
63273 FLNC-related handgrip and calf weakness-distal myopathy206650Disease
98911 Distal myotilinopathy206650, 209224Disease
98912 Late-onset distal myopathy, Markesbery-Griggs type206650, 209050, 593Disease
329478 Adult-onset distal myopathy due to VCP mutation206650Disease
399081 KLHL9-related early-onset distal myopathy206650Disease
399086 HNRNPA1-related adult-onset distal myopathy206650Disease
696063 PLIN4-related distal myopathy206650Disease
700154 TARDBP-related predominantly upper-limb distal myopathy206650Disease
700170 DNAJB4-related distal myopathy206650, 593Disease
700188 Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy206650Disease
488650 Distal myopathy, Tateyama type206650, 207078Disease
206653 Autosomal recessive distal myopathy599Category
45448 Miyoshi myopathy206653, 207073Disease
178400 Distal myopathy with anterior tibial onset206653, 207073Disease
399096 Distal anoctaminopathy206653Disease
399103 Autosomal recessive distal nebulin myopathy206653Disease
689021 Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome206653Disease
482601 Adenylosuccinate synthetase-like 1-related distal myopathy206653Disease
88635 Vacuolar myopathy with sarcoplasmic reticulum protein aggregates206634, 209199Disease
98473 Muscular dystrophy206634Category
97242 Congenital muscular dystrophy98473Category
258 Laminin subunit alpha 2-related congenital muscular dystrophy207094, 611314, 97242Malformation syndrome
1875 Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome522548, 97242, 98641Disease
34520 Congenital muscular dystrophy with integrin alpha-7 deficiency207098, 97242Disease
97244 Rigid spine syndrome209041, 209193, 97242Disease
98893 Congenital muscular dystrophy type 1B97242Disease
157973 Congenital muscular dystrophy due to LMNA mutation300755, 97242Disease
199329 Congenital myopathy, Paradas type207073, 97242Disease
370953 Congenital muscular dystrophy due to dystroglycanopathy97242Category
371007 Congenital muscular dystrophy with hyperlaxity97242Disease
486815 Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome611314, 97242Disease
646098 Collagen VI-related congenital muscular dystrophy207090, 97242Clinical group
610 Bethlem muscular dystrophy206644, 646098Disease
75840 Ullrich congenital muscular dystrophy646098Disease
646113 Intermediate collagen VI-related muscular dystrophy646098Disease
662184 Congenital muscular dystrophy-cataract-intellectual disability syndrome522548, 611314, 97242, 98641Disease
206644 Progressive muscular dystrophy98473Category
269 Facioscapulohumeral dystrophy206644Disease
263 Limb-girdle muscular dystrophy206644Clinical group
102014 Autosomal dominant limb-girdle muscular dystrophy263Category
565909 Calpain-3-related limb-girdle muscular dystrophy D4102014, 207104Disease
34516 DNAJB6-related limb-girdle muscular dystrophy D1102014Disease
55595 TNP03-related limb-girdle muscular dystrophy D2102014Disease
55596 HNRNPDL-related limb-girdle muscular dystrophy D3102014Disease
102015 Autosomal recessive limb-girdle muscular dystrophy263Category
565837 Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23102015, 207094Disease
267 Calpain-3-related limb-girdle muscular dystrophy R1102015, 207104Disease
1878 TRIM32-related limb-girdle muscular dystrophy R8102015, 207107Disease
268 Dysferlin-related limb-girdle muscular dystrophy R2102015, 207073Disease
34514 Telethonin-related limb-girdle muscular dystrophy R7102015, 209056Disease
140922 Titin-related limb-girdle muscular dystrophy R10102015, 209053Disease
206549 Anoctamin-5-related limb-girdle muscular dystrophy R12102015, 207122Disease
254361 Plectin-related limb-girdle muscular dystrophy R17102015, 209196Disease
369840 TRAPPC11-related limb-girdle muscular dystrophy R18102015Disease
424261 TOR1AIP1-related limb-girdle muscular dystrophy102015, 424925Disease
653725 Autosomal recessive limb-girdle muscular dystrophy, type 28102015Disease
25980 X-linked myopathy with excessive autophagy206644, 206662Disease
178461 X-linked myopathy with postural muscle atrophy206644Disease
178464 Hereditary myopathy with early respiratory failure206644, 206662, 209053Disease
206647 Myotonic dystrophy206644, 206970Clinical group
431263 Late-onset scapuloperoneal muscular dystrophy with hyaline bodies206644Clinical group
431272 X-linked scapuloperoneal muscular dystrophy431263Disease
466921 Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome206644Disease
447977 Progressive scapulohumeroperoneal distal myopathy206644Disease
206656 Non-dystrophic myopathy206634Category
521305 Proximal myopathy with focal depletion of mitochondria206656Disease
593 Myofibrillar myopathy206656Category
98910 Alpha-crystallinopathy209044, 593Clinical group
280553 Fatal infantile hypertonic myofibrillar myopathy476403, 98910Disease
209224 Myotilinopathy207049, 593Category
268129 Spheroid body myopathy209224Disease
171445 Muscle filaminopathy209047, 593Disease
199340 BAG3-related myofibrillar myopathy593Disease
476403 Hypercontractile muscle stiffness syndrome593Clinical group
496686 Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome593Disease
972 Hereditary continuous muscle fiber activity206656, 98741Disease
53347 Brody myopathy206656, 209199Disease
97238 Rippling muscle disease206656, 207078Disease
97245 Congenital myopathy206656Category
2020 Congenital fiber-type disproportion myopathy209059, 209193, 284790, 97245Disease
2593 Tubular aggregate myopathy97245Disease
3068 Intellectual disability-myopathy-short stature-endocrine defect syndrome611314, 97245Disease
595 Centronuclear myopathy97245Clinical group
169186 Autosomal recessive centronuclear myopathy209053, 595, 98742Disease
169189 Autosomal dominant centronuclear myopathy595Disease
604680 Symptomatic form of X-linked centronuclear myopathy in female carriers207110, 595Disease
319160 Congenital myopathy with internal nuclei and atypical cores172976, 595Disease
53698 Myosin storage myopathy209185, 97245Disease
636965 Autosomal dominant myosin storage myopathy53698Clinical subtype
636970 Autosomal recessive myosin storage myopathy53698Clinical subtype
97232 Fingerprint body myopathy97245Disease
97239 Reducing body myopathy97245Disease
97240 Zebra body myopathy97245Disease
98904 Congenital myopathy with excess of thin filaments209059, 97245Disease
171881 Cap myopathy284790, 97245Disease
171886 Cylindrical spirals myopathy97245Disease
171889 Myopathy with hexagonally cross-linked tubular arrays97245Disease
172976 Congenital myopathy with cores97245Clinical group
597 Central core disease172976, 98742Disease
598 Multiminicore myopathy172976, 209193, 466658Disease
98905 Congenital multicore myopathy with external ophthalmoplegia598, 98742Clinical subtype
178145 Moderate multiminicore disease with hand involvement598, 98742Clinical subtype
178148 Antenatal multiminicore disease with arthrogryposis multiplex congenita598Clinical subtype
324604 Classic multiminicore myopathy598Clinical subtype
324581 Benign Samaritan congenital myopathy97245, 98742Disease
363409 Fetal akinesia-cerebral and retinal hemorrhage syndrome97245Disease
424107 Congenital myopathy with myasthenic-like onset97245, 98742Disease
439212 Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome97245Disease
544602 Congenital myopathy with reduced type 2 muscle fibers97245Disease
457074 Congenital nemaline myopathy97245Clinical group
98902 Amish nemaline myopathy284786, 457074, 607Disease
171430 Severe congenital nemaline myopathy209059, 209182, 457074, 607Disease
171433 Intermediate nemaline myopathy209059, 209182, 284790, 457074, 607Disease
171436 Typical nemaline myopathy209059, 209182, 284790, 457074, 607Disease
98486 Metabolic myopathy206656Category
206966 Mitochondrial myopathy98486Category
171690 Metabolic myopathy due to lactate transporter defect98486Disease
206953 Muscular lipidosis98486Category
206959 Muscular glycogenosis98486Clinical group
206662 Inclusion myopathy206656Category
79091 Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome206662Disease
84132 Desmin-related myopathy with Mallory body-like inclusions206662, 209041, 209193Disease
324381 Hereditary inclusion body myopathy type 4206662Disease
363677 Childhood-onset autosomal recessive myopathy with external ophthalmoplegia206662, 519347, 522522Disease
401768 Proximal myopathy with extrapyramidal signs182070, 183500, 206656, 306695, 307058, 611314Disease
607 Nemaline myopathy206656Clinical group
171439 Childhood-onset nemaline myopathy209059, 209182, 284790, 607Disease
171442 Adult-onset nemaline myopathy209059, 209182, 607Disease
289380 Myosclerosis206656, 207090Disease
206970 Myotonic syndrome206634Category
684 Paramyotonia congenita of Von Eulenburg206970, 98738Disease
612 Potassium-aggravated myotonia206970, 98738Clinical group
99734 Myotonia fluctuans612Disease
99735 Myotonia permanens612Disease
99736 Acetazolamide-responsive myotonia612Disease
206973 Congenital myotonia206970Clinical group
614 Thomsen and Becker disease206973, 98739Disease
371433 Genetic periodic paralysis206634Category
682 Hyperkalemic periodic paralysis206976, 371433, 98738Disease
397755 Periodic paralysis with transient compartment-like syndrome206976, 371433, 98740Disease
207049 Qualitative or quantitative protein defects in neuromuscular diseases183497Category
207052 Qualitative or quantitative defects of sarcoglycan207049Category
207060 Qualitative or quantitative defects of alpha-sarcoglycan207052Category
207063 Qualitative or quantitative defects of beta-sarcoglycan207052Category
207067 Qualitative or quantitative defects of gamma-sarcoglycan207052Category
207070 Qualitative or quantitative defects of delta-sarcoglycan207052Category
207073 Qualitative or quantitative defects of dysferlin207049Category
207078 Qualitative or quantitative defects of caveolin-3207049Category
206599 Isolated asymptomatic elevation of creatine phosphokinase207078, 207085Biological anomaly
207085 Qualitative or quantitative defects of dystrophin207049Category
207090 Qualitative or quantitative defects of collagen 6207049Category
207094 Laminin subunit alpha 2-related muscular dystrophy207049Category
207098 Qualitative or quantitative defects of integrin alpha-7207049Category
207101 Qualitative or quantitative defects of perlecan207049Category
207104 Qualitative or quantitative defects of calpain207049Category
207107 Qualitative or quantitative defects of TRIM32207049Category
207110 Qualitative or quantitative defects of myotubularin207049Category
209038 Qualitative or quantitative defects of myofibrillar proteins207049Category
209041 Qualitative or quantitative defects of desmin209038Category
209044 Qualitative or quantitative defects of alphaB-cristallin209038Category
209047 Qualitative or quantitative defects of filamin C209038Category
209050 Qualitative or quantitative defects of protein ZASP209038Category
209053 Qualitative or quantitative defects of titin207049Category
209056 Qualitative or quantitative defects of telethonin207049Category
209059 Qualitative or quantitative defects of alpha-actin207049Category
209182 Qualitative or quantitative defects of nebulin207049Category
209185 Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)207049Category
209188 Qualitative or quantitative defects of emerin207049Category
209193 Qualitative or quantitative defects of selenoprotein N1207049Category
209196 Qualitative or quantitative defects of plectin207049Category
209199 Qualitative or quantitative defects of protein SERCA1207049Category
209203 Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -207049Category
284786 Qualitative or quantitative defects of troponin207049Category
284790 Qualitative or quantitative defects of tropomyosin207049Category
371024 Qualitative or quantitative defects of alpha-dystroglycan207049Category
207113 Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan371024Category
207119 Qualitative or quantitative defects of FKRP207113Category
207122 Qualitative or quantitative defects of fukutin207113Category
209024 Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase207113Category
209027 Qualitative or quantitative defects of protein glycosyltransferase-like207113Category
209030 Qualitative or quantitative defects of protein O-mannosyltransferase 1207113Category
209033 Qualitative or quantitative defects of protein O-mannosyltransferase 2207113Category
371040 Primary qualitative or quantitative defects of alpha-dystroglycan371024Category
424925 Qualitative or quantitative defects of Torsin-1A-interacting protein 1207049Category
98737 Genetic neurological muscular channelopathy183497, 71864Category
98738 Neurological muscular channelopathy due to a genetic sodium channel defect98737Category
98739 Neurological muscular channelopathy due to a genetic chloride channel defect98737Category
98740 Neurological muscular channelopathy due to a genetic calcium channel defect98737Category
98741 Neurological muscular channelopathy due to a genetic potassium channel defect98737Category
36899 Myoclonus-dystonia syndrome306750, 391711, 98741Disease
98742 Neurological muscular channelopathy due to a genetic ryanodine receptor defect98737Category
423 Malignant hyperthermia of anesthesia466658, 98742Disease
183500 Genetic neurodegenerative disease71859Category
685 Hereditary spastic paraplegia182070, 183500Clinical group
102012 Pure hereditary spastic paraplegia685Clinical group
100980 Autosomal dominant pure spastic paraplegia102012Clinical group
100993 Autosomal dominant spastic paraplegia type 12100980Disease
100999 Autosomal dominant spastic paraplegia type 19100980Disease
171612 Autosomal dominant spastic paraplegia type 37100980Disease
171863 Autosomal dominant spastic paraplegia type 42100980Disease
320355 Autosomal dominant spastic paraplegia type 41100980Disease
401849 Autosomal spastic paraplegia type 72100980, 100982Disease
444099 Autosomal dominant spastic paraplegia type 73100980Disease
689231 IFIH1-related hereditary spastic paraplegia100980Disease
694356 ADAR-related hereditary spastic paraplegia100980Disease
631068 Autosomal dominant spastic paraplegia type 80100980Disease
100982 Autosomal recessive pure spastic paraplegia102012Clinical group
101004 Autosomal recessive spastic paraplegia type 24100982Disease
101008 Autosomal recessive spastic paraplegia type 28100982Disease
401785 Autosomal recessive spastic paraplegia type 62100982Disease
401840 Autosomal recessive spastic paraplegia type 71100982Disease
631076 Autosomal recessive spastic paraplegia type 83100982Disease
689234 RNASEH2B-related hereditary spastic paraplegia100982Disease
320332 X-linked pure spastic paraplegia102012Clinical group
171607 X-linked spastic paraplegia type 34320332Disease
102013 Complex hereditary spastic paraplegia685Clinical group
98888 X-linked complex spastic paraplegia102013Clinical group
100979 Autosomal dominant complex spastic paraplegia102013Clinical group
447753 Autosomal dominant spastic paraplegia type 9A100979, 522548, 98641Disease
2819 Spastic paraplegia-facial-cutaneous lesions syndrome100979Malformation syndrome
2821 Spastic paraplegia-neuropathy-poikiloderma syndrome100979Disease
2826 Spastic paraplegia-precocious puberty syndrome100979Disease
101009 Autosomal dominant spastic paraplegia type 29100979Disease
171617 Autosomal dominant spastic paraplegia type 38100979Disease
320365 Autosomal dominant spastic paraplegia type 36100979Disease
329475 Spastic paraplegia-Paget disease of bone syndrome100979Disease
100981 Autosomal recessive complex spastic paraplegia102013Clinical group
477673 Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome100981, 611314Disease
459056 Autosomal recessive spastic paraplegia type 75100981, 611314Disease
2818 Spastic paraplegia-glaucoma-intellectual disability syndrome100981, 611314, 98638Disease
100996 Kjellin syndrome100981, 611314, 716427Disease
101000 Autosomal recessive spastic paraplegia type 20100981, 611314Disease
101003 Autosomal recessive spastic paraplegia type 23100981Disease
101005 Autosomal recessive spastic paraplegia type 25100981Disease
101006 Autosomal recessive spastic paraplegia type 26100981, 611314Disease
171622 Autosomal recessive spastic paraplegia type 32100981Disease
280763 Severe intellectual disability and progressive spastic paraplegia100981, 611314Disease
319199 Autosomal recessive spastic paraplegia type 53100981, 611314Disease
320370 Autosomal recessive spastic paraplegia type 43100981Disease
320380 Autosomal recessive spastic paraplegia type 54100981, 611314Disease
320391 Autosomal recessive spastic paraplegia type 46100981, 611314Disease
320401 Autosomal recessive spastic paraplegia type 44100981Disease
397946 Autosomal spastic paraplegia type 58100981Disease
401780 Autosomal recessive spastic paraplegia type 61100981Disease
401795 Autosomal recessive spastic paraplegia type 59100981Disease
401800 Autosomal recessive spastic paraplegia type 60100981Disease
401805 Autosomal recessive spastic paraplegia type 63100981Disease
401810 Autosomal recessive spastic paraplegia type 64100981, 611314Disease
401815 Autosomal recessive spastic paraplegia type 66100981Disease
401830 Autosomal recessive spastic paraplegia type 69100981Disease
401835 Autosomal recessive spastic paraplegia type 70100981Disease
447760 Autosomal recessive spastic paraplegia type 9B100981, 611314Disease
101001 Autosomal recessive spastic paraplegia type 21100981Disease
171629 Autosomal recessive spastic paraplegia type 35100981Disease
496689 Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome100981Disease
488594 Autosomal recessive spastic paraplegia type 76100981Disease
631073 Autosomal recessive spastic paraplegia type 82100981Disease
631079 Autosomal recessive spastic paraplegia type 84100981Disease
513436 Autosomal recessive spastic paraplegia type 78100981Disease
631082 Autosomal recessive spastic paraplegia type 85100981Disease
631085 Autosomal recessive spastic paraplegia type 86100981Disease
320360 MT-ATP6-related mitochondrial spastic paraplegia102013Disease
320335 Pure or complex hereditary spastic paraplegia685Clinical group
320342 Pure or complex autosomal dominant spastic paraplegia320335Clinical group
101010 Autosomal spastic paraplegia type 30320342, 320346Disease
209951 Autosomal spastic paraplegia type 18320342, 611314Disease
100984 Autosomal dominant spastic paraplegia type 3320342Disease
100985 Autosomal dominant spastic paraplegia type 4320342Disease
100988 Autosomal dominant spastic paraplegia type 6320342Disease
100991 Autosomal dominant spastic paraplegia type 10320342, 611314Disease
100994 Autosomal dominant spastic paraplegia type 13320342Disease
101011 Autosomal dominant spastic paraplegia type 31320342Disease
447757 Autosomal dominant spastic paraplegia type 9B320342Disease
100989 Autosomal dominant spastic paraplegia type 8320342Disease
320346 Pure or complex autosomal recessive spastic paraplegia320335Clinical group
631088 Autosomal recessive spastic paraplegia type 87320346Disease
2822 Autosomal recessive spastic paraplegia type 11320346, 611314Disease
100986 Autosomal recessive spastic paraplegia type 5A320346Disease
100995 Autosomal recessive spastic paraplegia type 14320346Disease
320396 Autosomal recessive spastic paraplegia type 45320346, 611314Disease
320411 Autosomal recessive spastic paraplegia type 56320346, 611314Disease
101007 Autosomal recessive spastic paraplegia type 27320346Disease
320350 Pure or complex X-linked spastic paraplegia320335Clinical group
59 Allan-Herndon-Dudley syndrome320350, 596426, 611314Disease
100997 X-linked spastic paraplegia type 16320350Disease
35689 Primary lateral sclerosis182070, 183500, 98503Disease
85162 Facial onset sensory and motor neuronopathy182070, 183500Disease
85292 X-linked spinocerebellar ataxia type 4183500, 247765, 611314, 89043Disease
85334 X-linked neurodegenerative syndrome, Bertini type182070, 183500, 611314Disease
85336 X-linked neurodegenerative syndrome, Hamel type182070, 183500, 611314Disease
158266 Huntington disease-like syndrome183500, 89043Clinical group
494541 Childhood-onset benign chorea with striatal involvement158266, 306719Disease
1429 Benign hereditary chorea158266, 306719Disease
157946 Huntington disease-like 3158266, 182070, 306695, 307058Disease
803 Amyotrophic lateral sclerosis182070, 183500, 98503Disease
352654 Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome182070, 183500, 441434Disease
363969 Autosomal recessive cerebral atrophy182070, 183500Disease
391343 Fatal post-viral neurodegenerative disorder102005, 182070, 183500Disease
1576 Infantile bilateral striatal necrosis182070, 183500, 306695, 307058, 611314Clinical group
225147 Sporadic infantile bilateral striatal necrosis1576Disease
225154 Familial infantile bilateral striatal necrosis1576Disease
621758 Fibrosis-neurodegeneration-cerebral angiomatosis syndrome182070, 183500, 264694, 264992, 477754Disease
497906 Childhood-onset basal ganglia degeneration syndrome182070, 183500, 370106Disease
500180 Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder182070, 183500, 306695, 307058, 611314Disease
183503 Genetic central nervous system and retinal vascular disease71859Category
891 Familial exudative vitreoretinopathy183503, 71281, 716441, 716466, 717345Disease
477771 Rare disorder with a moyamoya angiopathy183503, 477768Category
232 Sickle cell anemia275752, 399185, 477771, 93614Disease
477754 Genetic cerebral small vessel disease183503, 71281Category
247691 Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations182228, 477647, 477754, 716459, 717348Disease
313838 Coats plus syndrome477754, 716459, 717348Disease
542310 Leukoencephalopathy with calcifications and cysts477754Disease
477759 COL4A1 or COL4A2-related cerebral small vessel disease477754Category
477765 COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency477759Clinical group
36383 COL4A1/2-related familial vascular leukoencephalopathy477765Disease
73229 HANAC syndrome477765, 544590Disease
75326 Familial isolated retinal arteriolar tortuosity477765Disease
477762 COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency477759Clinical group
477749 Pontine autosomal dominant microangiopathy with leukoencephalopathy477762Disease
314572 Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome477754, 716405Disease
689001 Isolated spontaneous cervical artery dissection183503, 496924, 71281Disease
140989 Primary angiitis of the central nervous system156143, 156146, 183503, 71281Disease
371436 Genetic neurovascular malformation183503Category
231160 Familial cerebral saccular aneurysm102006, 371436Disease
183506 Genetic central nervous system malformation183530, 71859Category
269550 Genetic non-syndromic central nervous system malformation183506Category
269553 Genetic cerebral malformation269550Category
269557 Genetic posterior fossa malformation269550Category
269560 Genetic cerebellar malformation269557Category
269564 Genetic syndrome with a central nervous system malformation as a major feature183506Category
269567 Genetic syndrome with a cerebellar malformation as a major feature269564Category
269570 Genetic syndrome with a Dandy-Walker malformation as a major feature269567Category
269573 Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature269564Category
183509 Rare genetic headache71859Category
183512 Rare genetic epilepsy71859Category
166481 Metabolic diseases with epilepsy101998, 183512Category
225681 Lysosomal disease with epilepsy166481Category
371442 Sphingolipidosis with epilepsy225681Category
225686 Peroxisomal disease with epilepsy166481Category
225689 Amino acid or protein metabolism disease with epilepsy166481Category
225692 Metal transport or utilization disorder with epilepsy166481Category
225696 Energy metabolism disorder with epilepsy166481Category
225700 Mitochondrial disease with epilepsy225696Category
225707 Metabolic neurotransmission anomaly with epilepsy166481Category
225710 Sterol metabolism disorder with epilepsy166481Category
225713 Other metabolic disease with epilepsy166481Category
79134 DEND syndrome166481, 224Disease
166469 Chromosomal anomaly with epilepsy as a major feature101998, 183512Category
166463 Epilepsy syndrome101998, 183512Category
98259 Childhood-onset epilepsy syndrome166463Category
1942 Epilepsy with myoclonic-atonic seizures611314, 98259Disease
309 Familial partial epilepsy166475, 182083, 98259, 98260Clinical group
98819 Familial temporal lobe epilepsy309Disease
99701 Mesial temporal lobe epilepsy with hippocampal sclerosis309Disease
163717 Familial mesial temporal lobe epilepsy309Disease
725 Developmental and epileptic encephalopathy with spike-wave activation in sleep98259Disease
25968 Self-limited childhood occipital epilepsy98259Disease
98815 Self-limited epilepsy with autonomic seizures25968Clinical subtype
98816 Childhood occipital visual epilepsy25968Clinical subtype
98818 Landau-Kleffner syndrome98259Disease
163708 Cryptogenic late-onset epileptic spasms98259Disease
163721 Rolandic epilepsy-speech dyspraxia syndrome611314, 98259Disease
163727 Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome98259Disease
289266 Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation611314, 98259Disease
86911 Epilepsy with myoclonic absences306759, 98259Disease
86908 Hemiconvulsion-hemiplegia-epilepsy syndrome98259Disease
98260 Adolescent-onset epilepsy syndrome166463Category
86814 Familial adult myoclonic epilepsy306750, 98260Disease
693802 Neonatal-infantile onset epilepsy syndrome166463Clinical group
166308 Benign infantile focal epilepsy with midline spikes and waves during sleep693802Disease
163681 CNTNAP2-related developmental and epileptic encephalopathy611314, 693802Disease
599373 STXBP1-related encephalopathy611314, 693802Disease
697160 Infantile epileptic spasms syndrome693802Disease
1943 Early-onset progressive encephalopathy with migrant continuous myoclonus693802Disease
209370 MECP2-related severe neonatal encephalopathy166472, 693802Disease
86909 Myoclonic epilepsy of infancy693802Disease
544254 SYNGAP1-related developmental and epileptic encephalopathy611314, 693802Disease
86906 Gelastic seizures with hypothalamic hamartoma166478, 693802Disease
699645 Variable age-onset epilepsy syndrome166463Clinical group
86913 Myoclonic epilepsy in non-progressive encephalopathies699645Malformation syndrome
698005 Epilepsy with generalized tonic-clonic seizures alone699645Disease
1941 Juvenile absence epilepsy699645Disease
98820 Familial focal epilepsy with variable foci699645Disease
101046 Epilepsy with auditory features699645Disease
310 Reflex epilepsy699645Clinical group
166409 Photosensitive occipital lobe epilepsy310Disease
166412 Hot water reflex epilepsy310Disease
166415 Audiogenic epilepsy310Disease
166418 Eating reflex epilepsy310Disease
166421 Orgasm-induced epilepsy310Disease
166424 Thinking epilepsy310Disease
166427 Startle epilepsy310Disease
166430 Micturition-induced epilepsy310Disease
166433 Epilepsy with reading-induced seizures310Disease
98261 Progressive myoclonic epilepsy306756, 699645Clinical group
501 Lafora disease98261Disease
308 Progressive myoclonic epilepsy type 1611314, 98261Disease
85110 Familial encephalopathy with neuroserpin inclusion bodies250808, 98261Disease
530303 Progressive dementia with neuroserpin inclusion bodies85110Clinical subtype
530298 Progressive myoclonic epilepsy with neuroserpin inclusion bodies85110Clinical subtype
280620 Progressive myoclonic epilepsy type 698261Disease
324290 PRDM8-related progressive myoclonus epilepsy98261Disease
402082 Progressive myoclonic epilepsy type 598261Disease
457265 Progressive myoclonic epilepsy type 998261Disease
166466 Neurocutaneous syndrome with epilepsy101998, 183512Category
166472 Monogenic disease with epilepsy101998, 183512Category
428 Autosomal dominant hypocalcemia166472, 2238Clinical subtype
3173 Infantile spasms-broad thumbs syndrome166472, 522548, 98641Disease
99989 Intermediate DEND syndrome166472, 224Disease
2076 X-linked intellectual disability-epilepsy syndrome166472, 611314Clinical group
93952 X-linked intellectual disability, Hedera type2076Disease
163985 Hyperekplexia-epilepsy syndrome183521, 2076, 306773Disease
85294 X-linked epilepsy-learning disabilities-behavior disorders syndrome166472, 611314Disease
182079 ARX-related epileptic encephalopathy166472Clinical group
3175 X-linked spasticity-intellectual disability-epilepsy syndrome182079, 611314Disease
94083 Partington syndrome182079, 611314Malformation syndrome
364063 Infantile epileptic-dyskinetic encephalopathy182079, 391711Disease
182083 Channelopathy with epilepsy166472Category
352582 Familial infantile myoclonic epilepsy166472, 611314Disease
352596 Progressive myoclonic epilepsy with dystonia166472Disease
391316 Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression166472Disease
435845 Lethal neonatal spasticity-epileptic encephalopathy syndrome166472Malformation syndrome
488613 Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome166472, 519343, 522508, 611314Malformation syndrome
163696 Action myoclonus-renal failure syndrome166472, 567562Disease
397933 Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome166472, 611314Disease
101685 Rare non-syndromic intellectual disability166472, 183757, 87277Disease
777 X-linked non-syndromic intellectual disability101685Etiological subtype
88616 Autosomal recessive non-syndromic intellectual disability101685Etiological subtype
178469 Autosomal dominant non-syndromic intellectual disability101685Etiological subtype
592564 GNAO1-related developmental delay-seizures-movement disorder spectrum166472, 494457, 496916, 522520, 611314Disease
662367 NESCAV syndrome166472, 611314Disease
166475 Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes101998, 183512Category
166478 Cerebral malformation with epilepsy101998, 183512Category
166487 Cerebral diseases of vascular origin with epilepsy101998, 183512Category
183515 Rare genetic medullar disease71859Category
2285 Primary basilar invagination102000, 183515Morphological anomaly
2585 Ataxia-pancytopenia syndrome102000, 183515Malformation syndrome
183518 Hereditary ataxia102002, 71859Category
1178 Ataxia-tapetoretinal degeneration syndrome183518Disease
1173 Cerebellar ataxia-hypogonadism syndrome181387, 183518Disease
1180 Ataxia-hypogonadism-choroidal dystrophy syndrome181387, 183518, 716342Disease
1185 Spinocerebellar ataxia-dysmorphism syndrome183518Disease
2579 Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome183518, 716405Disease
211062 Hereditary episodic ataxia183518Category
79135 Episodic ataxia type 3211062Disease
79136 Episodic ataxia type 4211062Disease
209967 Episodic ataxia type 6211062Disease
209970 Episodic ataxia type 7211062Disease
211067 Episodic ataxia type 5211062Disease
401953 Episodic ataxia with slurred speech211062Disease
247765 X-linked cerebellar ataxia183518Category
1175 X-linked progressive cerebellar ataxia247765, 611314Disease
85338 X-linked intellectual disability-ataxia-apraxia syndrome247765, 611314Disease
93256 Fragile X-associated tremor/ataxia syndrome247765, 306712, 307061Malformation syndrome
314978 X-linked non progressive cerebellar ataxia247765Disease
316226 Spastic ataxia183518Clinical group
316235 Autosomal dominant spastic ataxia316226Category
1182 Spastic ataxia with congenital miosis316235, 519286, 522568Disease
251282 Autosomal dominant spastic ataxia type 1316235Disease
316240 Autosomal recessive spastic ataxia316226Category
98 Autosomal recessive spastic ataxia of Charlevoix-Saguenay316240Disease
2572 Spastic ataxia-corneal dystrophy syndrome316240, 522548, 98628, 98641Disease
2672 Neuhauser-Eichner-Opitz syndrome183518Malformation syndrome
183521 Rare genetic movement disorder71859Category
238722 Familial congenital mirror movements102003, 183521, 611314Disease
496916 Rare genetic hyperkinetic movement disorder183521Category
306719 Neurodegenerative disease with chorea306715, 496916Category
209905 Brain-lung-thyroid syndrome100049, 177107, 306719, 611314Disease
306765 Motor stereotypies494457, 496916Category
307061 Rare genetic tremor disorder496916Category
53372 Hereditary geniospasm306712, 307061Disease
307064 Rare genetic myoclonus496916Category
306750 Primary myoclonus306747, 307064Category
319189 Familial cortical myoclonus306750Disease
221083 Hemifacial spasm306750Disease
307067 Rare genetic disease with myoclonus as a major feature307064Category
306756 Epilepsy and/or ataxia with myoclonus as a major feature306753, 307067Category
306759 Non progressive epilepsy and/or ataxia with myoclonus as a major feature306756Category
391799 Rare genetic dystonia496916Category
98203 Combined dystonia391799, 68363Category
200037 Paroxysmal dystonia306768, 98203Clinical group
1431 Paroxysmal dyskinesia200037Clinical group
98810 Paroxysmal non-kinesigenic dyskinesia1431Disease
98811 Paroxysmal exertion-induced dyskinesia1431, 611314Disease
53583 Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity200037Disease
71518 Benign paroxysmal torticollis of infancy200037Disease
391711 Persistent combined dystonia98203Clinical group
589618 Dystonia 28391711, 611314Disease
53351 X-linked dystonia-parkinsonism306666, 307055, 391711Disease
71517 Rapid-onset dystonia-parkinsonism307052, 391711, 68402Disease
210571 Dystonia 16306666, 307055, 391711Disease
238455 Infantile dystonia-parkinsonism306666, 307055, 391711, 611314Disease
370109 Ataxia-telangiectasia variant391711Disease
412217 Dystonia-aphonia syndrome391711Disease
156159 Isolated dystonia391799, 68363Category
1866 Focal, segmental or multifocal dystonia156159Category
93958 Oromandibular dystonia1866Disease
93964 Blepharospasm-oromandibular dystonia syndrome1866Disease
98805 Primary dystonia, DYT4 type1866Disease
98807 Primary dystonia, DYT13 type1866Disease
99657 Primary dystonia, DYT2 type1866Disease
329466 Autosomal dominant focal dystonia, DYT25 type1866Disease
370103 Primary dystonia, DYT17 type1866Disease
420485 Cranio-cervical dystonia with laryngeal and upper-limb involvement1866Disease
420492 Adult-onset cervical dystonia, DYT23 type1866Disease
464440 Primary dystonia, DYT27 type1866Disease
494526 Infantile-onset generalized dyskinesia with orofacial involvement1866, 611314Disease
376724 Generalized isolated dystonia156159Category
256 Early-onset generalized limb-onset dystonia376724Disease
98806 Primary dystonia, DYT6 type376724Disease
306734 Primary dystonia, DYT21 type376724Disease
370106 Rare disorder with dystonia and other neurologic or systemic manifestation391799, 68363Category
597623 IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome370106Disease
660017 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome370106, 611314Disease
660012 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation660017Etiological subtype
1617 Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion660017Etiological subtype
522077 Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome494457, 496916, 522520, 611314, 98683Disease
306768 Rare paroxysmal movement disorder102003, 183521Category
1179 Benign paroxysmal tonic upgaze of childhood with ataxia306768Disease
324588 Familial dyskinesia and facial myokymia306768Disease
307052 Rare genetic parkinsonian disorder183521Category
307055 Rare parkinsonian syndrome due to genetic neurodegenerative disease307052Category
2828 Young-onset Parkinson disease182058, 306666, 307055, 448426Disease
2379 Early-onset parkinsonism-intellectual disability syndrome306666, 307055, 611314Disease
171695 Parkinsonian-pyramidal syndrome306666, 307055Disease
178509 Perry syndrome306666, 307055Disease
228169 Autosomal dominant striatal neurodegeneration306666, 307055Disease
306669 Hemiparkinsonism-hemiatrophy syndrome306666, 307055Disease
514980 ATP13A2-related parkinsonism306666, 307055Clinical group
363654 X-linked parkinsonism-spasticity syndrome306666, 307055Disease
391411 Atypical juvenile parkinsonism306666, 307055Disease
307058 Miscellaneous movement disorder due to genetic neurodegenerative disease183521Category
306708 Frontotemporal neurodegeneration with movement disorder306695, 307058Category
454887 Corticobasal syndrome306666, 306708, 98535Disease
369847 Intellectual disability-hyperkinetic movement-truncal ataxia syndrome183521, 306715, 611314Disease
183757 Rare genetic intellectual disability71859Category
183763 Rare genetic syndromic intellectual disability183757Category
611327 Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability183533, 183763Category
611314 Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome102369, 183763Category
168577 Hereditary cryohydrocytosis with reduced stomatin611314, 98365Disease
541423 Growth delay-intellectual disability-hepatopathy syndrome101939, 156604, 611314Disease
2255 Pancreatic hypoplasia-diabetes-congenital heart disease syndrome181381, 183625, 611314Disease
1571 Knobloch syndrome611314, 716427, 716446Malformation syndrome
791 Retinitis pigmentosa156168, 156171, 611314, 716410, 717324Disease
3204 Stormorken-Sjaastad-Langslet syndrome477794, 519286, 522568, 611314Disease
641361 Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome611314Disease
641353 Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome611314Disease
643549 Hao-Fountain syndrome611314Disease
643538 Hao-Fountain syndrome due to USP7 mutation643549Etiological subtype
647788 Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome611314Disease
674653 Actinomyopathy-associated syndromic thrombocytopenia477794, 611314, 674648Disease
675767 Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency331184, 611314Disease
692173 Marbach-Schaaf neurodevelopmental syndrome611314Disease
100974 FRAXF syndrome611314Disease
73272 Growth delay due to insulin-like growth factor type 1 deficiency181393, 611314Disease
93607 Autosomal recessive proximal renal tubular acidosis47159, 611314Clinical subtype
67045 X-linked intellectual disability with isolated growth hormone deficiency231692, 611314Clinical subtype
85277 X-linked intellectual disability, Cantagrel type611314Malformation syndrome
85290 X-linked intellectual disability, Wilson type611314Malformation syndrome
98890 Early-onset X-linked optic atrophy441434, 611314Disease
100973 FRAXE intellectual disability611314Disease
280384 Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome611314Disease
289483 Intellectual disability-alacrima-achalasia syndrome611314, 98604Disease
356996 ANK3-related intellectual disability-sleep disturbance syndrome611314Disease
401777 Optic atrophy-intellectual disability syndrome441434, 611314Disease
95716 Familial thyroid dyshormonogenesis611314, 95714Disease
88619 Familial acute necrotizing encephalopathy611314Disease
65 Leber congenital amaurosis156174, 522548, 611314, 716410, 717324, 98622, 98641Disease
73273 Growth delay due to insulin-like growth factor I resistance181393, 611314Disease
95496 Pituitary stalk interruption syndrome611314, 95488Morphological anomaly
99885 Isolated permanent neonatal diabetes mellitus224, 611314Disease
361 Familial glucocorticoid deficiency101960, 611314Disease
436151 Intellectual disability-expressive aphasia-facial dysmorphism syndrome211053, 611314Malformation syndrome
457260 X-linked intellectual disability-hypotonia-movement disorder syndrome611314Disease
468620 Intellectual disability-epilepsy-extrapyramidal syndrome611314Disease
621 Autosomal recessive methemoglobinemia158300, 611314, 707993Disease
2573 Moyamoya disease477768, 611314Disease
565788 Infantile inflammatory bowel disease with neurological involvement165655, 169361, 611314Disease
1313 Infantile choroidocerebral calcification syndrome522520, 611314, 98683Disease
3011 Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome611314, 716405Disease
2375 Laryngeal abductor paralysis-intellectual disability syndrome611314Malformation syndrome
3077 X-linked intellectual disability-psychosis-macroorchidism syndrome611314Malformation syndrome
412069 AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome611314Malformation syndrome
2268 ICF syndrome169346, 611314Malformation syndrome
528084 Non-specific syndromic intellectual disability183757, 87277Disease
209908 Isolated childhood apraxia of speech211053, 71859Disease
209978 Alternating hemiplegia71859, 98006Clinical group
2131 Alternating hemiplegia of childhood209978Disease
209973 Benign nocturnal alternating hemiplegia of childhood209978Disease
210141 Inherited congenital spastic tetraplegia71859, 98006Disease
434786 Rare genetic autonomic nervous system disorder71859Category
661 Congenital central hypoventilation syndrome101944, 156610, 423662, 434786Disease
199282 Harlequin syndrome423662, 434786Disease
581271 Cramp-fasciculation syndrome423662, 434786, 98750Disease
481665 Pseudo-TORCH syndrome type 2477647, 481671, 71859, 98006Disease
521232 Genetic primary orthostatic disorder71859Category
448426 Genetic primary orthostatic hypotension521232Category
2400 Peripheral motor neuropathy-dysautonomia syndrome182058, 448426Disease
443236 Postural orthostatic tachycardia syndrome due to NET deficiency521232, 521236Disease
603699 Recessive KLHL7-related disorder71859, 98006Clinical group
77830 Rare genetic odontologic disease98053Category
99792 Dentin dysplasia-sclerotic bones syndrome77830, 98027Disease
167762 Rare disease with dentinogenesis imperfecta77830, 98027Category
420755 Rare genetic odontal or periodontal disorder77830Category
1077 Dental ankylosis164001, 420755Malformation syndrome
2024 Hereditary gingival fibromatosis164001, 183580, 420755Malformation syndrome
2287 Fused mandibular incisors164001, 420755Morphological anomaly
88661 Amelogenesis imperfecta164001, 420755Disease
100031 Hypoplastic amelogenesis imperfecta88661Clinical subtype
100032 Hypocalcified amelogenesis imperfecta88661Clinical subtype
100033 Hypomaturation amelogenesis imperfecta88661Clinical subtype
100034 Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism88661Clinical subtype
99797 Anodontia164001, 420755Morphological anomaly
99798 Oligodontia164001, 420755Morphological anomaly
167759 Hereditary dentin defect164001, 420755Category
1653 Dentin dysplasia167759Disease
99789 Dentin dysplasia type I1653Clinical subtype
99791 Dentin dysplasia type II1653Clinical subtype
314721 Atypical dentin dysplasia due to SMOC2 deficiency1653Clinical subtype
49042 Dentinogenesis imperfecta167759Disease
166260 Dentinogenesis imperfecta type 249042Clinical subtype
166265 Dentinogenesis imperfecta type 349042Clinical subtype
412206 Primary failure of tooth eruption164001, 420755Disease
91378 Hereditary angioedema658, 98053Clinical group
528623 Hereditary angioedema with C1Inh deficiency250811, 91378Disease
100050 Hereditary angioedema type 1528623Etiological subtype
100051 Hereditary angioedema type 2528623Etiological subtype
528647 Hereditary angioedema with normal C1Inh91378Disease
100054 F12-related hereditary angioedema with normal C1Inh528647Clinical subtype
537072 PLG-related hereditary angioedema with normal C1Inh528647Clinical subtype
599418 Hereditary angioedema with normal C1Inh not related to F12 or PLG variant528647Clinical subtype
466084 Genetic otorhinolaryngologic disease98053Category
96210 Rare genetic deafness466084Category
87884 Rare non-syndromic genetic deafness68361, 96210Disease
90636 Rare autosomal recessive non-syndromic sensorineural deafness type DFNB87884Etiological subtype
90625 Rare X-linked non-syndromic sensorineural deafness type DFN87884Etiological subtype
90635 Rare autosomal dominant non-syndromic sensorineural deafness type DFNA87884Etiological subtype
922 Familial nasal acilia466084, 98036Disease
88620 Isolated congenital anosmia466084, 98036Disease
435603 Genetic otorhinolaryngological malformation183583, 466084Category
435606 Genetic nose and cavum anomaly435603Category
435609 Genetic larynx anomaly435603Category
435612 Genetic tracheal anomaly435603Category
98054 Rare genetic cardiac disease98053Category
477805 Genetic cardiac malformation98054Category
98056 Rare genetic renal disease98053Category
93587 Genetic cystic renal disease93626, 98056Category
731 Autosomal recessive polycystic kidney disease101939, 156162, 156604, 399824, 400003, 506213, 93587Disease
2666 Adult familial nephronophthisis-spastic quadriparesia syndrome156162, 506213, 93587Disease
79118 Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome93587Disease
401996 Karyomegalic interstitial nephritis506213, 93587Disease
140976 RHYNS syndrome156162, 506213, 716405, 93587Disease
3156 Senior-Loken syndrome156162, 156180, 506213, 716405, 93587Disease
84081 Senior-Boichis syndrome156162, 506213, 93587Disease
730 Autosomal dominant polycystic kidney disease156162, 399824, 400003, 506213, 93587Disease
34149 Autosomal dominant tubulointerstitial kidney disease183592, 506213, 93587Disease
88949 MUC1-related autosomal dominant tubulointerstitial kidney disease156162, 34149Clinical subtype
88950 UMOD-related autosomal dominant tubulointerstitial kidney disease156162, 34149Clinical subtype
217330 REN-related autosomal dominant tubulointerstitial kidney disease34149Clinical subtype
655 Nephronophthisis156162, 156180, 506213, 93587Disease
93589 Late-onset nephronophthisis655Clinical subtype
93591 Infantile nephronophthisis655Clinical subtype
93592 Juvenile nephronophthisis655Clinical subtype
93593 Nephropathy secondary to a storage or other metabolic disease93626, 98056Category
300547 Autosomal recessive infantile hypercalcemia183634, 506213, 68415, 93593Disease
371207 Congenital disorder of glycosylation with nephropathy as a major feature93593Category
93614 Hematological disorder with renal involvement93626, 98056Category
846 Alpha-thalassemia275745, 93614Clinical group
93616 Hemoglobin H disease846, 95618Disease
163596 Hemoglobin Bart's fetalis syndrome846Disease
848 Beta-thalassemia275749, 93614, 95618Clinical group
231214 Beta-thalassemia major848Disease
231222 Beta-thalassemia intermedia848Disease
715143 Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene848Disease
156629 Rare genetic cause of hypertension93618, 98056Category
526 Liddle syndrome156629, 506213Disease
424 Familial hyperthyroidism due to mutations in TSH receptor156629, 181399, 506213Disease
757 Pseudohypoaldosteronism type 2156629, 444916, 506213Disease
88938 Pseudohypoaldosteronism type 2A757Etiological subtype
88939 Pseudohypoaldosteronism type 2B757Etiological subtype
88940 Pseudohypoaldosteronism type 2C757Etiological subtype
300525 Pseudohypoaldosteronism type 2D757Etiological subtype
300530 Pseudohypoaldosteronism type 2E757Etiological subtype
320 Apparent mineralocorticoid excess101954, 156629, 183637, 506213Disease
88659 Autosomal dominant progressive nephropathy with hypertension156629, 506213Disease
88660 Hypertension due to gain-of-function mutations in the mineralocorticoid receptor156629, 163637, 506213Disease
235936 Familial hyperaldosteronism156629, 231641, 371861, 506213Clinical group
403 Familial hyperaldosteronism type I235936Disease
251274 Familial hyperaldosteronism type III235936Disease
642671 Familial hyperaldosteronism type IV235936Disease
183539 Genetic renal or urinary tract malformation183530, 98056Category
357506 Genetic non-syndromic renal or urinary tract malformation183539Category
183586 Genetic glomerular disease98056Category
567556 Genetic systemic disease with glomerulopathy as a major feature183586, 567554Category
342 Familial Mediterranean fever290839, 324924, 567556Disease
85450 Hereditary amyloidosis with primary renal involvement444116, 506210, 567556, 69Disease
93560 AApoAI amyloidosis85450Clinical subtype
93561 ALys amyloidosis85450Clinical subtype
93562 AFib amyloidosis85450Clinical subtype
238269 AApoAII amyloidosis85450Clinical subtype
444092 Autoimmune interstitial lung disease-arthritis syndrome182228, 264699, 264992, 271870, 280373, 567556Disease
36412 Hypocomplementemic urticarial vasculitis156149, 280369, 567556Disease
567562 Disorder with multisystemic involvement and glomerulopathy183586, 93548Category
2613 Nail-patella-like renal disease567562Disease
69063 Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization567562Disease
84090 Fibronectin glomerulopathy183586, 93548Disease
54370 Primary membranoproliferative glomerulonephritis183586, 93548Disease
329903 Immunoglobulin-mediated membranoproliferative glomerulonephritis54370Clinical subtype
329918 C3 glomerulopathy54370Clinical subtype
93571 Dense deposit disease329918Histopathological subtype
329931 C3 glomerulonephritis329918Histopathological subtype
544590 Collagen-related glomerular basement membrane disease183586, 93548Category
564127 Genetic nephrotic syndrome183586, 567564Clinical group
839 Congenital nephrotic syndrome, Finnish type564127Disease
656 Hereditary steroid-resistant nephrotic syndrome564127Disease
183589 Genetic thrombotic microangiopathy98056Category
93583 Congenital thrombotic thrombocytopenic purpura183589, 183654, 54057Clinical subtype
576742 Genetic hemolytic uremic syndrome182043, 183589Category
2134 Atypical hemolytic uremic syndrome544458, 576742Disease
544472 Atypical hemolytic uremic syndrome with complement gene abnormality2134Etiological subtype
93581 Atypical hemolytic uremic syndrome with anti-factor H antibodies2134Etiological subtype
357008 Hemolytic uremic syndrome with DGKE deficiency544458, 576742Disease
183592 Genetic renal tubular disease98056Category
544628 Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome181376, 183592, 183625, 276525, 506213, 93603Disease
528105 Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome183592, 506213, 93603, 98604Disease
112 Bartter syndrome183592, 93603Disease
93605 Bartter syndrome type 3112, 506213Clinical subtype
570371 Bartter syndrome type 5112Clinical subtype
620217 Bartter syndrome type 1112, 506213Clinical subtype
620220 Bartter syndrome type 2112, 506213Clinical subtype
358 Gitelman syndrome183592, 93603Disease
3145 Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome183592, 93603Disease
2197 Idiopathic hypercalciuria183592, 506213, 93603Disease
223 Arginine vasopressin resistance183592, 93603Disease
3337 Primary Fanconi renotubular syndrome183592, 506213, 93603Disease
756 Pseudohypoaldosteronism type 1183592, 444916Disease
171871 Renal pseudohypoaldosteronism type 1756Clinical subtype
171876 Generalized pseudohypoaldosteronism type 1756Clinical subtype
93606 Nephrogenic syndrome of inappropriate antidiuresis183592, 93603Disease
94088 Hereditary renal hypouricemia183592, 506213, 93603Malformation syndrome
314822 Primary renal tubular acidosis183592, 93603Clinical group
18 Distal renal tubular acidosis314822, 506213Disease
93608 Autosomal dominant distal renal tubular acidosis18Clinical subtype
93610 Distal renal tubular acidosis with anemia18, 98364Clinical subtype
47159 Proximal renal tubular acidosis314822Disease
314889 Autosomal dominant proximal renal tubular acidosis47159Clinical subtype
1380 Cataract-nephropathy-encephalopathy syndrome183592, 506213, 522548, 93603, 98641Malformation syndrome
101435 Rare genetic eye disease98053Category
522504 Rare genetic disorder of the visual organs101435Category
522536 Structural developmental eye defect of genetic origin183557, 522504Category
522538 Rare genetic disorder of the anterior segment of the eye522504Category
522556 Rare genetic corneal disorder522538Category
522558 Rare genetic disorder with corneal involvement as a major feature522556Category
522560 Genetic corneal dystrophy522558Category
522562 Genetic superficial corneal dystrophy522560Category
98959 Subepithelial mucinous corneal dystrophy522562, 98625Disease
98961 Reis-Bücklers corneal dystrophy522562, 98625Disease
293375 Grayson-Wilbrandt corneal dystrophy522562, 98625Disease
98954 Meesmann corneal dystrophy522562, 98625Disease
98955 Lisch epithelial corneal dystrophy522562, 98625Disease
98956 Epithelial basement membrane dystrophy522562, 98625Disease
98957 Gelatinous drop-like corneal dystrophy522562, 98625Disease
98960 Thiel-Behnke corneal dystrophy522562, 98625Disease
293381 Epithelial recurrent erosion dystrophy522562, 98625Disease
352657 Hereditary benign intraepithelial dyskeratosis522562, 98625Disease
98626 Stromal corneal dystrophy34533, 522560Category
98972 Central cloudy dystrophy of François98626Disease
98962 Granular corneal dystrophy type I98626Disease
98963 Granular corneal dystrophy type II98626Disease
98964 Lattice corneal dystrophy type I98626Disease
98967 Schnyder corneal dystrophy98626Disease
98969 Macular corneal dystrophy98626Disease
98970 Fleck corneal dystrophy98626Disease
98971 Posterior amorphous corneal dystrophy98626Disease
101068 Congenital stromal corneal dystrophy98626Disease
293462 Pre-Descemet corneal dystrophy98626Disease
98627 Posterior corneal dystrophy34533, 522560Category
98974 Fuchs endothelial corneal dystrophy98627Disease
293603 Congenital hereditary endothelial dystrophy type II98627Disease
293621 X-linked endothelial corneal dystrophy98627Disease
98628 Syndromic corneal dystrophy34533, 522560Category
1661 X-linked corneal dermoid519286, 522568, 98628Disease
2741 Ophthalmomandibulomelic dysplasia98628Malformation syndrome
522564 Syndromic genetic keratoconus522558Category
293936 EDICT syndrome522564, 98623Disease
522566 Rare genetic inflammatory/autoimmune corneal disorder522558Category
2334 Autosomal dominant keratitis519290, 522566Disease
522568 Rare genetic disorder of the pupil522538Category
1884 Ectopia lentis-chorioretinal dystrophy-myopia syndrome519286, 522548, 522568, 716299, 98641Disease
3374 Unilateral ocular duplication519286, 522568Morphological anomaly
183607 Genetic lens and zonula anomaly522538Category
522546 Rare genetic disorder with lens opacification183607Category
522548 Syndromic genetic cataract522546Category
3167 Siegler-Brewer-Carey syndrome101944, 156610, 522548, 98641Malformation syndrome
162 Congenital cataract-anterior segment dysgenesis syndrome522548, 98641Malformation syndrome
91495 Persistent hyperplastic primary vitreous522548, 716435, 98641Disease
98642 Chromosomal anomaly with cataract522548, 98641Category
98644 Metabolic disease with cataract522548, 98641Category
98646 Renal disease with cataract522548, 98641Category
2253 Foveal hypoplasia-presenile cataract syndrome522548, 98641Disease
521432 Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome101941, 156607, 522548, 98641Disease
98648 Musculoskeletal disease with cataract522548, 98641Category
98649 Dentocutaneous disease with cataract522548, 98641Category
98650 Craniofacial anomaly with cataract522548, 98641Category
263347 MRCS syndrome522548, 716432, 717336, 98641Disease
289499 Congenital cataract microcornea with corneal opacity522548, 98641Malformation syndrome
1377 Cataract-microcornea syndrome522548, 98641Malformation syndrome
2238 Familial isolated hypoparathyroidism181405, 208593, 522548, 98641Disease
2239 Familial isolated hypoparathyroidism due to agenesis of parathyroid gland2238Clinical subtype
189466 Familial isolated hypoparathyroidism due to impaired PTH secretion2238Clinical subtype
2410 Hypergonadotropic hypogonadism-cataract syndrome181441, 522548, 98641Malformation syndrome
522550 Lens size anomaly of genetic origin183557, 183607Category
522552 Lens position anomaly of genetic origin183557, 183607Category
522554 Syndromic genetic ectopia lentis522552Category
522540 Anterior segment developmental anomaly of genetic origin183557, 522538Category
522542 Rare genetic disorder with conjunctival involvement as a major feature522538Category
722 Hypoplasminogenemia182222, 271870, 522542, 98610Disease
183616 Genetic neuro-ophthalmological disease522504Category
522510 Rare genetic ophthalmic disorder with cranial nerve involvement183616Category
64686 Tolosa-Hunt syndrome519349, 522510Disease
98685 Rare oculomotor nerve disorder519349, 522510Category
440221 Congenital oculomotor nerve palsy98685Disease
397618 Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome519349, 522510Disease
440233 Congenital abducens nerve palsy519349, 522510Disease
522512 Rare genetic optic nerve disorder522510Category
98671 Hereditary optic neuropathy519351, 522512Category
98676 Autosomal recessive isolated optic atrophy98671Disease
441434 Syndromic hereditary optic neuropathy98671Category
522514 Congenital optic disc excavation of genetic origin183557, 522512Category
519337 Disorder with optic nerve compression519351, 522512Category
519339 Pseudopapilledema519351, 522512Category
313800 Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome165711, 519339, 716405Disease
519353 Rare trochlear nerve disorder519349, 522510Category
91498 Familial congenital palsy of trochlear nerve519353Disease
98686 Congenital trochlear nerve palsy519353Disease
522508 Rare genetic ophthalmic disorder with cortical involvement183616Category
98688 Oculomotor apraxia519343, 522508Category
1125 Ocular motor apraxia, Cogan type98688Disease
522516 Rare genetic ocular motility/alignment disorder183616Category
522518 Rare genetic disorder with strabismus522516Category
522520 Syndromic genetic disorder with strabismus522518Category
2968 Leukocyte adhesion deficiency522520, 674648, 98683Disease
99842 Leukocyte adhesion deficiency type I2968Clinical subtype
98684 Craniostenosis with strabismus522520, 98683Category
522522 Rare genetic neuromuscular disorder with ocular motility/alignment anomaly522516Category
520820 Progressive external ophthalmoplegia519347, 522522Category
522506 Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature183616Category
98687 Supranuclear eye movement disorder519341, 522506Category
522524 Rare genetic disorder of the ocular adnexa522504Category
522532 Rare genetic disorder of the lacrimal apparatus522524Category
98604 Congenital alacrima522532, 98602Category
86815 Aplasia of lacrimal and salivary glands98604Disease
91416 Isolated congenital alacrima98604Disease
522534 Lacrimal drainage system anomaly of genetic origin183557, 522532Category
522526 Rare genetic palpebral disorder183557, 522524Category
522528 Rare genetic eyelid malposition disorder522526Category
522530 Rare genetic disorder with entropion522528Category
519296 Rare disorder with pigmented sclera519298, 522504Category
522570 Rare genetic disorder of the posterior segment of the eye522504Category
522572 Rare genetic retinal disorder522570Category
717260 Rare genetic generalized retinal disorder522572Category
716364 Rare non-progressive generalized retinal disorder716358, 717260Category
716367 Rare isolated non-progressive generalized retinal disorder716364Category
215 Congenital stationary night blindness716367Clinical group
75382 Oguchi disease215Malformation syndrome
714096 Congenital stationary night blindness, Riggs type215Disease
714090 Congenital stationary night blindness, Schubert-Bornschein type215Disease
714079 Complete congenital stationary night blindness, Schubert-Bornschein type714090Clinical subtype
714070 Incomplete congenital stationary night blindness, Schubert-Bornschein type714090Clinical subtype
227796 Fundus albipunctatus215Disease
99179 Kandori fleck retina716367Malformation syndrome
16 Blue cone monochromatism716367, 98658Disease
49382 Achromatopsia716367, 98658Disease
178333 Åland Islands eye disease716367, 716419, 717330Disease
90001 X-linked cone dysfunction syndrome with myopia716367Disease
363989 Familial benign flecked retina716367Disease
75374 Bradyopsia716367Disease
251287 Benign concentric annular macular dystrophy716367Disease
75378 Oligocone trichromacy716367Disease
716393 Rare disorder with non-progressive generalized retinal disorder as a major feature716364Category
717321 Rare genetic progressive generalized retinal disorder717260Category
717324 Rare genetic isolated progressive generalized retinal disorder717321Category
364055 Severe early-childhood-onset retinal dystrophy716410, 717324Disease
209932 Cone dystrophy with supernormal rod response716410, 717324Disease
247834 Occult macular dystrophy716410, 716432, 717324, 717336Disease
53540 Goldmann-Favre syndrome716410, 717324Disease
52427 Retinitis punctata albescens716410, 717324Disease
85128 Bothnia retinal dystrophy716348, 716410, 717317, 717324Disease
1872 Cone rod dystrophy156171, 156174, 716410, 717324Disease
139455 Autosomal recessive bestrophinopathy716410, 716432, 717324, 717336Disease
67042 Late-onset retinal degeneration716410, 716432, 717324, 717336Disease
827 Stargardt disease716410, 716432, 717324, 717336Disease
1871 Progressive cone dystrophy156171, 716410, 717324Disease
397758 Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies716410, 717324Disease
716405 Rare disorder with progressive generalized retinal disorder as a major feature716361, 717321Category
653709 Cone rod dystrophy-short stature syndrome716405Disease
247522 Primary ciliary dyskinesia-retinitis pigmentosa syndrome101944, 156610, 716405Disease
1574 Retinal degeneration-nanophthalmos-glaucoma syndrome716405Malformation syndrome
717257 Rare genetic predominantly chorioretinal disorder522572Category
717308 Rare genetic non-progressive predominantly chorioretinal disorder717257Category
717311 Rare genetic isolated non-progressive predominantly chorioretinal disorder717308Category
251295 Pigmented paravenous retinochoroidal atrophy716296, 717311Disease
75327 North Carolina macular dystrophy716296, 716419, 717311, 717330Disease
716299 Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature716293, 717308Category
369970 Microcornea-myopic chorioretinal atrophy-telecanthus syndrome716299Disease
717314 Rare genetic progressive predominantly chorioretinal disorder717257Category
716342 Rare disorder with progressive predominantly chorioretinal disorder as a major feature716304, 717314Category
2235 Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome181387, 716342Disease
717317 Rare genetic isolated progressive predominantly chorioretinal disorder717314Category
86813 Helicoid peripapillary chorioretinal degeneration716348, 717317Disease
180 Choroideremia716348, 717317Disease
75373 Progressive bifocal chorioretinal atrophy716348, 717317Disease
41751 Bietti crystalline dystrophy716348, 716432, 717317, 717336Disease
522574 Rare genetic macular disorder522572Category
717327 Rare genetic non-progressive predominantly macular disorder522574Category
717330 Rare genetic isolated non-progressive predominantly macular disorder717327Category
519398 Isolated foveal hypoplasia716419, 717330Morphological anomaly
716422 Rare disorder with non-progressive predominantly macular disorder as a major feature716413, 717327Category
717333 Rare genetic progressive predominantly macular disorder522574Category
717336 Rare genetic isolated progressive predominantly macular disorder717333Category
75376 Familial drusen716432, 717336Disease
75381 Cystoid macular dystrophy716432, 717336Disease
466718 Martinique crinkled retinal pigment epitheliopathy716432, 717336Disease
75377 Central areolar choroidal dystrophy716432, 717336Disease
319640 Retinal macular dystrophy type 2716432, 717336Disease
59181 Sorsby fundus dystrophy716432, 717336Disease
1243 Best vitelliform macular dystrophy716432, 717336Disease
63454 Pattern dystrophy716432, 717336Category
99000 Adult-onset foveomacular vitelliform dystrophy63454Disease
99001 Butterfly-shaped pigment dystrophy63454Disease
99002 Reticular dystrophy of the retinal pigment epithelium63454Disease
99003 Multifocal pattern dystrophy simulating fundus flavimaculatus63454Disease
99004 Fundus pulverulentus63454Disease
716427 Rare disorder with progressive predominantly macular disorder as a major feature716416, 717333Category
522576 Rare genetic retinal vasculopathy522572Category
717339 Rare genetic non-progressive retinal vasculopathy522576Category
717342 Rare genetic progressive retinal vasculopathy522576Category
717345 Rare genetic isolated progressive retinal vasculopathy717342Category
329211 Autosomal dominant neovascular inflammatory vitreoretinopathy716441, 716466, 717345Disease
717348 Rare genetic disorder with progressive vasculopathy disorder as a major feature717342Category
3088 Revesz syndrome68383, 717348Malformation syndrome
98668 Vitreoretinopathy519315, 522572Category
716435 Rare non-progressive vitreoretinopathy98668Category
716438 Rare progressive vitreoretinopathy98668Category
716441 Rare isolated progressive vitreoretinopathy716438Category
91496 Snowflake vitreoretinal degeneration716441Disease
898 Wagner disease716441Disease
209867 Autosomal dominant rhegmatogenous retinal detachment716441Disease
716446 Rare disorder with progressive vitreoretinopathy disorder as a major feature716438Category
522578 Rare genetic disorder involving multiple structures of the eye522504Category
359 Pediatric-onset glaucoma of genetic origin522578Category
522580 Secondary early-onset glaucoma of genetic origin359Category
525677 Genetic congenital malformation of the eye with glaucoma as a major feature183557, 522580Category
98638 Rare disease with glaucoma as a major feature519331, 522580Category
2536 Microcornea-glaucoma-absent frontal sinuses syndrome98638Malformation syndrome
2085 Glaucoma-sleep apnea syndrome68354, 98638Disease
98706 Oculocutaneous or ocular albinism519329, 522578Category
617449 Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome519329, 522578Disease
98618 Rare refraction anomaly101435, 97966Category
98619 Rare isolated myopia98618Disease
98621 Rare hyperopia and astigmatism98618Category
98622 Syndromic hyperopia98621Category
98658 Color-vision disease101435, 97966Category
88629 Tritanopia98658Disease
140162 Inherited cancer-predisposing syndrome250908, 98053Category
252206 Melanoma and neural system tumor syndrome140162, 252190Disease
231108 Rhabdoid tumor predisposition syndrome140162Disease
99749 Kostmann syndrome140162, 439849Disease
183422 Polymalformative genetic syndrome with increased risk of developing cancer140162Category
166113 Bazex syndrome183422, 90077Disease
169079 Cernunnos-XLF deficiency183422, 480549Disease
252202 Constitutional mismatch repair deficiency syndrome140162, 252190, 331240Disease
276399 Familial multinodular goiter101955, 140162, 183631Disease
289539 BAP1-related tumor predisposition syndrome140162Disease
293822 MITF-related melanoma and renal cell carcinoma predisposition syndrome140162Disease
319328 Inherited renal cancer-predisposing syndrome140162, 93626Category
47044 Hereditary papillary renal cell carcinoma319328Disease
99880 Hyperparathyroidism-jaw tumor syndrome2207, 319328Disease
319462 Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations319328Disease
422526 Hereditary clear cell renal cell carcinoma319328Disease
431149 Combined immunodeficiency due to OX40 deficiency140162, 480549Disease
284343 DICER1 tumor-predisposition syndrome140162, 64742Disease
661526 MBD4-related tumor predisposition syndrome140162Disease
664450 Inherited cancer-predisposing lymphoproliferative syndrome140162Category
695172 Combined immunodeficiency due to dimerization defective IKAROS mutation664450, 695164Disease
695807 Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome165655, 169361, 290839, 324933, 664450Disease
542301 EBV-induced lymphoproliferative disease due to CARMIL2 deficiency480549, 664450, 664456Disease
538931 X-linked lymphoproliferative disease due to SAP deficiency2442, 664450Disease
540 Familial hemophagocytic lymphohistiocytosis102005, 664450, 664482Disease
3261 Autoimmune lymphoproliferative syndrome169355, 171898, 664450Disease
268114 RAS-associated autoimmune leukoproliferative disease169355, 171898, 664450Disease
306550 FADD-related immunodeficiency169355, 664450Disease
619948 Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency169355, 324933, 664450Disease
238505 Combined immunodeficiency due to CD27 deficiency480549, 664450, 664734Disease
275523 Dianzani autoimmune lymphoproliferative disease169355, 664450Disease
538958 EBV-induced lymphoproliferative disease due to CD70 deficiency480549, 664450, 664456Disease
538963 Combined immunodeficiency due to ITK deficiency480549, 664450, 664456Disease
664711 EBV-induced lymphoproliferative disease due to PRKCD deficiency664450, 664456Disease
664699 EBV-induced lymphoproliferative disease due to RASGRP1 deficiency664450, 664456Disease
664726 EBV-induced lymphoproliferative disease due to CD137 deficiency664450, 664456Disease
664729 EBV-induced lymphoproliferative disease due to TET2 deficiency664450, 664456Disease
420573 Severe combined immunodeficiency due to CTPS1 deficiency397802, 664450, 664456Disease
317476 XMEN480549, 664450, 664456Disease
692812 RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome101944, 140162, 156610, 506222, 688571Disease
634518 Neurofibromatosis/schwannomatosis140162, 252190Category
634461 Mosaic neurofibromatosis type 1634518Disease
634475 Mosaic NF2-related schwannomatosis634518Disease
634492 Mosaic schwannomatosis634518Disease
589746 Inherited gynecological cancer-predisposing syndrome140162Category
619340 Inherited hematologic cancer-predisposing syndrome140162Category
71290 Familial platelet disorder with associated myeloid malignancy477797, 619340, 98456Disease
585877 B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality619340, 99860Etiological subtype
641375 B-lymphoblastic leukemia/lymphoma with t(17;19)585877Etiological subtype
585909 B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)585877Etiological subtype
585918 B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)585877Etiological subtype
585929 B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)585877Etiological subtype
585936 B-lymphoblastic leukemia/lymphoma with hyperdiploidy585877Etiological subtype
585942 B-lymphoblastic leukemia/lymphoma with hypodiploidy585877Etiological subtype
585948 B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)585877Etiological subtype
585956 B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)585877Etiological subtype
641372 B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)585877Etiological subtype
524 Li-Fraumeni syndrome252190, 314749, 619340Disease
488647 DDX41-related hematologic malignancy predisposition syndrome619340Disease
156601 Rare genetic hepatic disease98053Category
2312 Transient familial neonatal hyperbilirubinemia156601, 57146Disease
79124 Hepatic veno-occlusive disease-immunodeficiency syndrome101938, 156601, 331217Disease
101940 Rare metabolic liver disease156601, 57146Category
284385 Familial intrahepatic cholestasis101940Category
371157 Congenital disorder of glycosylation with hepatic involvement101940Category
156604 Genetic parenchymatous liver disease156601Category
440427 Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency100049, 101939, 156604Disease
464724 Fever-associated acute infantile liver failure syndrome101939, 156604Disease
300293 Transient infantile hypertriglyceridemia and hepatosteatosis101939, 156604Disease
370088 Acute infantile liver failure-multisystemic involvement syndrome101939, 156604Disease
391366 Growth retardation-mild developmental delay-chronic hepatitis syndrome101939, 156604Disease
156607 Genetic biliary tract disease156601Category
2924 Isolated polycystic liver disease101941, 156607, 506210Malformation syndrome
69663 Low phospholipid-associated cholelithiasis101941, 156607Disease
480520 Caroli syndrome101941, 156607, 506210Malformation syndrome
480556 Isolated neonatal sclerosing cholangitis156607, 447771Disease
276405 Hyperbiliverdinemia156601, 57146Disease
156610 Rare genetic respiratory disease98053Category
2903 Familial spontaneous pneumothorax101944, 156610Disease
244 Primary ciliary dyskinesia101944, 156171, 156610, 399813Disease
3471 Young syndrome101944, 156610, 399824, 400003Disease
538 Lymphangioleiomyomatosis156610, 264740Disease
422 Idiopathic/heritable pulmonary arterial hypertension156610, 182090Disease
275766 Idiopathic pulmonary arterial hypertension422Etiological subtype
275777 Heritable pulmonary arterial hypertension422Etiological subtype
60025 Pulmonary alveolar microlithiasis156610, 97955Disease
60033 Idiopathic bronchiectasis101944, 156610Disease
183622 Genetic respiratory malformation156610Category
264992 Genetic interstitial lung disease156610Category
100049 Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies264670, 264992Category
217563 Neonatal acute respiratory distress syndrome100049Disease
264675 Hereditary pulmonary alveolar proteinosis100049, 674896Disease
440402 Interstitial lung disease due to ABCA3 deficiency100049Disease
572428 Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia100049, 290839Disease
210122 Congenital alveolar capillary dysplasia264683, 264992Disease
217566 Chronic respiratory distress with surfactant metabolism deficiency264930, 264992Disease
440392 Interstitial lung disease due to SP-C deficiency264930, 264992Disease
431353 Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis156610, 71198Category
31837 Pulmonary venoocclusive disease431353Disease
199241 Pulmonary capillary hemangiomatosis431353Disease
156619 Rare genetic urogenital disease98053Category
156622 Genetic urogenital tract malformation156619Category
325690 Genetic difference of sex development156619, 156638, 183530Category
325697 Genetic 46,XX difference of sex development325690Category
325706 Genetic 46,XY difference of sex development325690Category
325713 Genetic 46,XY difference of sex development of endocrine origin325706Category
156638 Rare genetic endocrine disease98053Category
485382 Rare genetic premature ovarian failure156638, 202940Category
436182 Microcephalic primordial dwarfism-insulin resistance syndrome181368, 485382, 95710Malformation syndrome
642691 Fragile X-associated primary ovarian insufficiency485382, 95710Disease
785 Estrogen resistance syndrome156638, 180208, 202940, 399831, 400011, 97978Disease
77828 Genetic obesity156638, 183573, 97978Category
98267 Genetic non-syndromic obesity77828Disease
66628 Obesity due to congenital leptin deficiency181390, 98267Etiological subtype
179490 Obesity due to congenital leptin resistance98267Etiological subtype
71526 Obesity due to pro-opiomelanocortin deficiency179490Etiological subtype
71528 Obesity due to prohormone convertase I deficiency179490, 181390Etiological subtype
71529 Obesity due to melanocortin 4 receptor deficiency179490Etiological subtype
179494 Obesity due to leptin receptor gene deficiency179490, 181390Etiological subtype
329249 Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency98267Etiological subtype
369873 Obesity due to SIM1 deficiency98267Etiological subtype
397615 Obesity due to CEP19 deficiency98267Etiological subtype
156643 Genetic endocrine growth disease156638Category
418 Congenital adrenal hyperplasia101960, 156643, 181412, 90692Clinical group
54595 Craniopharyngioma156643, 90692, 95503, 98062Disease
95488 Non-acquired pituitary hormone deficiency101957, 156643, 90692Category
631 Non-acquired isolated growth hormone deficiency95488Disease
629 Short stature due to growth hormone qualitative anomaly631Clinical subtype
231662 Isolated growth hormone deficiency type IA631Clinical subtype
231671 Isolated growth hormone deficiency type IB631Clinical subtype
231679 Isolated growth hormone deficiency type II631Clinical subtype
231692 Isolated growth hormone deficiency type III631Clinical subtype
632 Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia229720, 231692Clinical subtype
684247 Isolated growth hormone deficiency type IV631Clinical subtype
467 Non-acquired combined pituitary hormone deficiency95488Category
95495 Disease associated with non-acquired combined pituitary hormone deficiency467Category
85442 Short stature-pituitary and cerebellar defects-small sella turcica syndrome95495Disease
293978 Deficiency in anterior pituitary function-variable immunodeficiency syndrome696870, 95495Disease
178025 Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations467Category
90695 Non-acquired panhypopituitarism178025, 181390Disease
95494 Combined pituitary hormone deficiencies, genetic forms178025, 181390Disease
90674 Isolated thyroid-stimulating hormone deficiency226298, 95488Disease
174590 Congenital hypogonadotropic hypogonadism180208, 202940, 399572, 399983, 95488Category
181387 Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism174590Category
2230 Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome181387Disease
2560 Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome181387Malformation syndrome
181390 Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature174590, 399839Category
95702 X-linked adrenal hypoplasia congenita181390, 595337Disease
238666 Isolated congenital hypogonadotropic hypogonadism174590, 399839Disease
478 Kallmann syndrome238666Clinical subtype
432 Normosmic congenital hypogonadotropic hypogonadism238666Clinical subtype
52901 Isolated follicle stimulating hormone deficiency174590, 400011Disease
199296 Congenital isolated ACTH deficiency95488Disease
314811 Short stature due to GHSR deficiency95488Disease
95709 Rare acquired premature ovarian failure156643, 180208, 90692Category
3143 Autoimmune polyendocrinopathy type 2101963, 282196, 399853, 95709Disease
435554 Genetic precocious puberty156643Category
178040 Rare peripheral precocious puberty435554, 95708Category
3000 Familial peripheral male-limited precocious puberty178040Disease
178345 Aromatase excess syndrome178040, 435564, 650187Disease
650182 Genetic central precocious puberty435554Clinical group
650097 Genetic central precocious puberty in male650087, 650182Clinical subtype
650077 Genetic central precocious puberty in female650070, 650182Disease
181393 Growth hormone insensitivity syndrome156643, 183628, 90692Category
633 Laron syndrome181393Disease
140941 Short stature due to primary acid-labile subunit deficiency181393Disease
314802 Short stature due to partial GHR deficiency181393Disease
226292 Permanent congenital hypothyroidism156643, 442Category
177107 Syndromic hypothyroidism226292Category
2349 Muscular pseudohypertrophy-hypothyroidism syndrome177107Disease
88643 Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome177107Disease
226295 Primary congenital hypothyroidism226292Clinical group
95711 Congenital hypothyroidism due to developmental anomaly226295Category
95712 Thyroid ectopia95711Morphological anomaly
95713 Athyreosis95711Morphological anomaly
95719 Thyroid hemiagenesis95711, 95718Morphological anomaly
95720 Thyroid hypoplasia95711, 95718Morphological anomaly
95714 Primary congenital hypothyroidism without thyroid developmental anomaly226295Category
90673 Hypothyroidism due to TSH receptor mutations95714Disease
95717 Idiopathic congenital hypothyroidism95714Disease
226298 Central congenital hypothyroidism226292Clinical group
99832 Resistance to thyrotropin-releasing hormone syndrome226298Disease
226307 Hypothyroidism due to deficient transcription factors involved in pituitary development or function226298Disease
238670 Isolated thyrotropin-releasing hormone deficiency226298Disease
329235 X-linked central congenital hypothyroidism with late-onset testicular enlargement226298Disease
181441 Rare disorder with hypergonadotropic hypogonadism156638, 399685, 97978Category
2232 Primary hypergonadotropic hypogonadism-partial alopecia syndrome181441Disease
2558 Mikati-Najjar-Sahli syndrome181441Malformation syndrome
183625 Rare genetic diabetes mellitus156638Category
552 MODY181376, 183625Disease
224 Neonatal diabetes mellitus101952, 183625Category
181368 Rare insulin-resistance syndrome101952, 183625Category
2297 Insulin-resistance syndrome type A181368, 399853, 400022Disease
2298 Insulin-resistance syndrome type B181368Disease
66518 Short fifth metacarpals-insulin resistance syndrome181368Disease
436144 Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome181368Disease
183628 Rare genetic hypothalamic or pituitary disease156638Category
101957 Pituitary deficiency181384, 183628Category
30925 Hereditary arginine vasopressin deficiency101957, 178029Clinical subtype
300373 X-linked acrogigantism183628, 715120Disease
397685 Familial hyperprolactinemia183628, 399572, 399831, 399983, 400011, 715120Disease
183631 Rare genetic thyroid disease156638Category
181396 Rare hypothyroidism101955, 183631Category
442 Congenital hypothyroidism181396, 90692Category
226316 Genetic transient congenital hypothyroidism238699, 442Disease
181399 Rare hyperthyroidism101955, 183631Category
99819 Familial gestational hyperthyroidism163637, 181399Disease
596426 Syndrome of reduced sensitivity to thyroid hormone101955, 183631Clinical group
566243 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta596426Disease
566231 Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha596426Disease
171706 Short stature-delayed bone age due to thyroid hormone metabolism deficiency596426Disease
597939 Euthyroid dysprealbuminemic hyperthyroxinemia596426Disease
183634 Rare genetic parathyroid disease and phosphocalcic metabolism disorder156638Category
208593 Genetic hypoparathyroidism183634Category
181402 Syndrome with hypoparathyroidism181405, 208593Category
208596 Genetic hyperparathyroidism183634Category
2207 Familial primary hyperparathyroidism100090, 181408, 208596Clinical group
99879 Familial isolated hyperparathyroidism2207Disease
183637 Rare genetic adrenal disease156638Category
427 Familial hypoaldosteronism181419, 183637Disease
556030 Early-onset familial hypoaldosteronism427Clinical subtype
556037 Late-onset familial hypoaldosteronism427Clinical subtype
2976 Pseudoleprechaunism syndrome, Patterson type183637, 314749Malformation syndrome
101960 Genetic chronic primary adrenal insufficiency101959, 183637Category
977 Adrenomyodystrophy101960Disease
289548 Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency101960Disease
595337 Adrenal hypoplasia congenita101960Clinical group
181412 Adrenogenital syndrome101954, 183637Category
168588 Hyperandrogenism due to cortisone reductase deficiency180208, 181412, 202940Malformation syndrome
199247 Corticosteroid-binding globulin deficiency101954, 183637, 250811Disease
371861 Genetic hyperaldosteronism183637Category
369929 Primary hyperaldosteronism-seizures-neurological abnormalities syndrome231637, 371861Disease
189427 Cushing syndrome due to bilateral macronodular adrenocortical disease183637, 399584, 399994, 647758Disease
183643 Genetic polyendocrinopathy156638Category
1227 Bangstad syndrome101956, 183643Malformation syndrome
276525 Familial hyperinsulinism156638, 443095Category
263458 Hyperinsulinism due to INSR deficiency276525Disease
276608 Non-insulinoma pancreatogenous hypoglycemia syndrome276525Disease
158300 Rare genetic hematologic disease98053Category
330041 Hemoglobin M disease158300, 707993Disease
86816 Congenital analbuminemia158300, 97992Disease
183651 Rare constitutional anemia158300Category
466066 Genetic hemoglobinopathy183651Category
707792 Unstable gamma globin chain variant disease466066, 68364Disease
715147 Low oxygen affinity hemoglobin disease466066, 68364Disease
715154 Low oxygen affinity alpha chain hemoglobin disease715147Etiological subtype
715157 Low oxygen affinity beta chain hemoglobin disease715147Etiological subtype
280615 Low oxygen affinity gamma chain hemoglobin disease715147Etiological subtype
707786 Thalassemia466066, 68364Category
2133 Hemoglobin E disease707786Disease
275745 Alpha-thalassemia and related disorders707786Category
707789 Unstable alpha globin chain variant disease275745Disease
232288 Syndrome with alpha-thalassemia as a major feature275745Category
231401 Alpha-thalassemia-myelodysplastic syndrome232288Disease
275749 Beta-thalassemia and related disorders707786Category
231230 Beta-thalassemia associated with another hemoglobin anomaly275749Category
231242 Hemoglobin C-beta-thalassemia syndrome231230Disease
231249 Hemoglobin E-beta-thalassemia syndrome231230Disease
715128 Hemoglobin E-beta-thalassemia major231249Clinical subtype
715125 Hemoglobin E-beta-thalassemia intermedia231249Clinical subtype
330032 Hemoglobin Lepore-beta-thalassemia syndrome231230Disease
715135 Hemoglobin Lepore-beta-thalassemia intermedia330032Clinical subtype
715140 Hemoglobin Lepore-beta-thalassemia major330032Clinical subtype
231386 Syndromic beta-thalassemia275749Category
231393 Beta-thalassemia-X-linked thrombocytopenia syndrome231386Disease
231237 Delta-beta-thalassemia275749Disease
231226 Unstable beta globin chain variant disease275749Disease
46532 Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome275749Disease
2132 Hemoglobin C disease466066, 68364Disease
90039 Hemoglobin D disease466066, 68364Disease
275752 Sickle cell disease466066, 68364Category
251359 Sickle cell-beta-thalassemia disease275752Disease
695140 Sickle cell-beta zero-thalassemia251359Etiological subtype
695147 Sickle cell-beta plus-thalassemia251359Etiological subtype
251380 Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome275752Disease
251365 Sickle cell S-C disease275752Disease
700085 Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant275752Disease
700107 Sickle cell S-other specified hemoglobin variant700085Clinical subtype
251370 Sickle cell S-D Punjab disease700085Clinical subtype
251375 Sickle cell S-E disease700085Clinical subtype
700090 Sickle cell S-O Arab disease700085Clinical subtype
699822 Sickle cell S-Lepore disease700085Clinical subtype
700111 Homozygous hemoglobin O Arab disease466066, 68364Disease
98362 Constitutional sideroblastic anemia1047, 183651Category
260305 Autosomal recessive sideroblastic anemia98362Disease
300298 Severe congenital hypochromic anemia with ringed sideroblasts98360, 98362Disease
369861 Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome696870, 98362Disease
68383 Rare constitutional aplastic anemia182040, 183651Category
3319 Congenital amegakaryocytic thrombocytopenia477797, 68383Disease
314399 Autosomal dominant aplasia and myelodysplasia68383Disease
397692 Hereditary isolated aplastic anemia68383Disease
401764 Pancytopenia-developmental delay syndrome68383Disease
182043 Rare constitutional hemolytic anemia183651, 98363Category
98364 Rare constitutional hemolytic anemia due to a red cell membrane anomaly182043Category
822 Hereditary spherocytosis98364Disease
288 Hereditary elliptocytosis98364Disease
98365 Hereditary stomatocytosis98364Clinical group
3203 Overhydrated hereditary stomatocytosis98365Disease
3202 Dehydrated hereditary stomatocytosis98365Disease
71275 Rh deficiency syndrome98365Disease
90044 Familial pseudohyperkalemia98365Disease
98868 Southeast Asian ovalocytosis98365Disease
398088 Hereditary cryohydrocytosis with normal stomatin98365Disease
98366 Constitutional hemolytic anemia due to acanthocytosis98364Category
98369 Rare constitutional hemolytic anemia due to an enzyme disorder182043Category
98370 Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies98369Category
90030 Hemolytic anemia due to glutathione reductase deficiency98370Disease
99135 6-phosphogluconate dehydrogenase deficiency98370Disease
98372 Hemolytic anemia due to a disorder of glycolytic enzymes98369Category
90031 Non-spherocytic hemolytic anemia due to hexokinase deficiency98372Disease
466026 Class I glucose-6-phosphate dehydrogenase deficiency98372Disease
98374 Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder98369Category
86817 Hemolytic anemia due to adenylate kinase deficiency98374Disease
248296 Constitutional deficiency anemia183651, 248293Category
98360 Constitutional anemia due to iron metabolism disorder248296Category
209981 IRIDA syndrome98360Disease
98396 Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder248296Category
98408 Constitutional megaloblastic anemia due to folate metabolism disorder248296Category
98415 Vitamin B12- and folate-independent constitutional megaloblastic anemia248296Category
293830 Constitutional dyserythropoietic anemia108997, 183651Category
85 Congenital dyserythropoietic anemia293830Clinical group
67044 Thrombocytopenia with congenital dyserythropoietic anemia220452, 85Disease
98869 Congenital dyserythropoietic anemia type I85Disease
98870 Congenital dyserythropoietic anemia type III85Disease
293825 Congenital dyserythropoietic anemia type IV85Disease
363727 X-linked dyserythropoietic anemia with abnormal platelets and neutropenia220452, 85Disease
183654 Rare genetic coagulation disorder158300Category
68334 Rare hemorrhagic disorder due to a constitutional coagulation factors defect183654, 248315Category
600691 Combined deficiency of factor VII and factor X68334Disease
448 Hemophilia68334Clinical group
98878 Hemophilia A448Disease
169802 Severe hemophilia A98878Clinical subtype
169805 Moderate hemophilia A98878Clinical subtype
169808 Mild hemophilia A98878Clinical subtype
177926 Bleeding disorder in hemophilia A carriers98878Clinical subtype
98879 Hemophilia B448Disease
169793 Severe hemophilia B98879Clinical subtype
169796 Moderate hemophilia B98879Clinical subtype
169799 Mild hemophilia B98879Clinical subtype
177929 Bleeding disorder in hemophilia B carriers98879Clinical subtype
617930 Hemophilia B Leyden98879Clinical subtype
326 Congenital factor V deficiency68334Disease
335 Congenital fibrinogen deficiency68334Disease
98880 Familial afibrinogenemia335Clinical subtype
98881 Familial dysfibrinogenemia335Clinical subtype
101041 Familial hypofibrinogenemia335Clinical subtype
248408 Familial hypodysfibrinogenemia335Clinical subtype
79 Congenital alpha2-antiplasmin deficiency250811, 68334Disease
331 Congenital factor XIII deficiency68334Disease
903 Von Willebrand disease68334Disease
166078 Von Willebrand disease type 1903Clinical subtype
166081 Von Willebrand disease type 2903Clinical subtype
166084 Von Willebrand disease type 2A166081Clinical subtype
166087 Von Willebrand disease type 2B166081Clinical subtype
166090 Von Willebrand disease type 2M166081Clinical subtype
166093 Von Willebrand disease type 2N166081Clinical subtype
166096 Von Willebrand disease type 3903Clinical subtype
329 Congenital factor XI deficiency68334Disease
465 Congenital plasminogen activator inhibitor type 1 deficiency250808, 68334Disease
483 Congenital high-molecular-weight kininogen deficiency68334Disease
749 Congenital prekallikrein deficiency68334Disease
35909 Combined deficiency of factor V and factor VIII68334Disease
169826 Congenital vitamin K-dependent coagulation factors deficiency68334Category
327 Congenital factor VII deficiency169826Disease
325 Congenital factor II deficiency169826Disease
328 Congenital factor X deficiency169826Disease
178396 Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation250808, 68334Disease
599519 Factor V short isoforms-related bleeding disorder68334Disease
391320 East Texas bleeding disorder599519Etiological subtype
599579 Factor V Amsterdam bleeding disorder599519Etiological subtype
600194 Factor V Atlanta bleeding disorder599519Etiological subtype
436169 Thrombomodulin-related bleeding disorder68334Disease
71202 Rare hemorrhagic disorder due to a constitutional platelet anomaly183654, 248326Category
275729 Rare hemorrhagic disorder due to a constitutional thrombocytopenia71202Category
477794 Syndromic constitutional thrombocytopenia275729Category
652522 Periodic fever-immunodeficiency-thrombocytopenia syndrome290839, 324924, 331184, 477794Disease
480851 Hereditary thrombocytopenia with early-onset myelofibrosis477794, 98274Disease
220448 Macrothrombocytopenia with mitral valve insufficiency477794Disease
734 Alpha delta granule deficiency477794Disease
98456 Dense granule disease477794Category
477797 Isolated constitutional thrombocytopenia275729Category
220452 Isolated hereditary giant platelet disorder477797Category
438207 Severe autosomal recessive macrothrombocytopenia220452Disease
274 Bernard-Soulier syndrome220452Disease
140957 Autosomal dominant macrothrombocytopenia220452Disease
98455 Alpha granule disease220452Category
721 Gray platelet syndrome98455Disease
220436 Quebec platelet disorder98455Disease
370127 Medich giant platelet syndrome98455Disease
370131 White platelet syndrome98455Disease
268322 Hereditary thrombocytopenia with normal platelets477797Disease
852 X-linked thrombocytopenia with normal platelets268322Etiological subtype
168629 Autosomal thrombocytopenia with normal platelets268322Etiological subtype
220443 Bleeding diathesis due to thromboxane synthesis deficiency477797Disease
248340 Isolated delta-storage pool disease477797Disease
466806 Autosomal dominant thrombocytopenia with platelet secretion defect477797Disease
566192 Congenital autosomal recessive small-platelet thrombocytopenia477797Disease
275736 Rare hemorrhagic disorder due to a qualitative platelet defect71202Category
849 Glanzmann thrombasthenia275736Disease
806 Scott syndrome275736Disease
36355 Bleeding disorder due to P2Y12 defect275736Disease
52530 Pseudo-von Willebrand disease275736Disease
73271 Bleeding diathesis due to a collagen receptor defect275736Disease
98885 Bleeding diathesis due to glycoprotein VI deficiency73271Etiological subtype
98886 Bleeding diathesis due to integrin alpha2-beta1 deficiency73271Etiological subtype
420566 Bleeding disorder due to CalDAG-GEFI deficiency275736Disease
248361 Rare thrombotic disorder due to a constitutional coagulation factors defect183654, 248358Category
330 Congenital factor XII deficiency248361Disease
3324 Familial thrombomodulin anomalies248361Disease
217454 Rare hereditary thrombophilia248361, 399185Clinical group
743 Severe hereditary thrombophilia due to congenital protein S deficiency217454Disease
745 Severe hereditary thrombophilia due to congenital protein C deficiency217454Disease
82 Hereditary thrombophilia due to congenital antithrombin deficiency217454, 250811Disease
217467 Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency217454Disease
248401 Rare thrombotic disorder due to a constitutional platelet anomaly183654, 248368Category
71493 Familial thrombocytosis248401Disease
250165 Genetic polycythemia158300Category
90042 Primary familial polycythemia250165, 98427Disease
98428 Secondary polycythemia250165, 98427Category
238536 Congenital secondary polycythemia98428Category
238557 Chuvash erythrocytosis238536Disease
247378 Autosomal recessive secondary polycythemia not associated with VHL gene238536Disease
247511 Autosomal dominant secondary polycythemia238536Disease
165652 Rare genetic gastroenterological disease98053Category
165655 Genetic intestinal disease165652Category
363300 Genetic intractable diarrhea of infancy165655Category
363306 Genetic intestinal disease due to fat malabsorption165655Category
363314 Genetic intestinal polyposis165655Category
238569 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome165655, 169361, 182231, 619249Disease
529977 Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome165655, 169361, 182231, 271870Disease
529980 Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome165655, 169361Disease
538934 X-linked lymphoproliferative disease due to XIAP deficiency165655, 2442Disease
676125 X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency165655, 169361, 324936Disease
165658 Genetic gastro-esophageal disease165652Category
165661 Genetic pancreatic disease165652Category
183524 Rare genetic bone disease98053Category
93448 Lysosomal storage disease with skeletal involvement183524, 93419Category
235832 Congenital vascular bone syndrome183524, 93419Clinical group
364803 Rare bone disease related to a common gene or pathway defect183524Category
674499 Proteoglycan-related bone disorder364803Category
251262 Familial osteochondritis dissecans399158, 399380, 674499Disease
93420 FGFR3-related chondrodysplasia364803Category
93421 Type 2 collagen-related bone disorder364803Category
2380 Legg-Calvé-Perthes disease399319, 93421Disease
86820 Familial avascular necrosis of femoral head399302, 399388, 93421Disease
93422 Type 11 collagen-related bone disorder364803Category
93423 Sulfation-related bone disorder364803Category
93425 Filamin-related bone disorder364803Category
364820 TRPV4-related bone disorder364803Category
399380 Osteonecrosis of genetic origin183524Category
399388 Avascular necrosis of genetic origin399380Category
399185 Rare hereditary disease with avascular necrosis399169, 399388Category
399391 Osteochondrosis of genetic origin399380Category
3314 Thiemann disease, familial form399319, 399391Disease
404568 Dysostosis of genetic origin183524, 404584Category
404571 Dysostosis of genetic origin with limb anomaly as a major feature404568Category
404574 Genetic syndrome with limb reduction defects404571, 404577Category
183530 Rare genetic developmental defect during embryogenesis98053Category
183533 Genetic multiple congenital anomalies/dysmorphic syndrome183530Category
471383 Genetic lethal multiple congenital anomalies/dysmorphic syndrome183533Category
330206 Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability183533Category
183536 Genetic congenital limb malformation183530Category
404577 Genetic syndrome with limb malformations as a major feature183536Category
183542 Genetic cranial malformation183530Category
183545 Genetic digestive tract malformation183530Category
371445 Genetic syndromic esophageal malformation88993Category
183548 Genetic visceral malformation of the liver, biliary tract, pancreas or spleen183530Category
183554 Genetic respiratory or mediastinal malformation183530Category
183557 Genetic developmental defect of the eye183530Category
183570 Genetic malformation syndrome with short stature183530Category
183573 Genetic overgrowth/obesity syndrome183530Category
183576 Genetic branchial arch or oral-acral syndrome183530Category
183580 Genetic malformation syndrome with odontal and/or periodontal component183530Category
183583 Genetic head and neck malformation183530Category
363294 Genetic syndromic Pierre Robin syndrome156237Category
414726 Genetic facial cleft183583Category
211240 Genetic vascular anomaly183530Category
459526 Rare genetic capillary malformation211240Category
459537 Genetic complex vascular malformation with associated anomalies211240Category
459543 Rare genetic vascular tumor211240Category
459548 Rare genetic venous malformation211240Category
271853 Genetic cardiac anomaly183530Category
363245 Genetic progeroid syndrome183530Category
404584 Rare genetic bone development disorder183530Category
183731 Rare genetic gynecological and obstetrical diseases98053Category
145 Hereditary breast and/or ovarian cancer syndrome180257, 183731Disease
64739 Ovarian hyperstimulation syndrome180303, 183731Disease
180188 Isolated congenital breast hypoplasia/aplasia180173, 183731Morphological anomaly
202940 Anomaly of puberty or/and menstrual cycle of genetic origin183731Category
435564 Genetic precocious puberty in female202940Category
325665 Genetic difference of sex development of gynecological interest183731Category
98074 Gonadal dysgenesis of gynecological interest325620, 325665Category
325632 46,XY difference of sex development of gynecological interest325620, 325665Category
325638 Syndrome with difference of sex development of gynecological interest325620, 325665Category
183770 Rare genetic immune disease98053Category
101997 Primary immunodeficiency183770, 98004Category
101988 Primary immunodeficiency due to a defect in innate immunity101997Category
101985 Quantitative and/or qualitative congenital phagocyte defect101988Category
101987 Congenital neutropenia101985, 506219Category
2686 Cyclic neutropenia101987Disease
42738 Severe congenital neutropenia101987Clinical group
486 Autosomal dominant severe congenital neutropenia42738Disease
86788 X-linked severe congenital neutropenia42738Disease
439849 Autosomal recessive severe congenital neutropenia42738Category
331176 Severe congenital neutropenia due to G6PC3 deficiency331184, 439849Disease
420699 Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency439849Disease
420702 Autosomal recessive severe congenital neutropenia due to CSF3R deficiency439849Disease
423384 Severe congenital neutropenia due to JAGN1 deficiency331184, 439849Disease
331184 Syndrome with congenital neutropenia as a major feature101987Category
675628 TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome331184, 98290Disease
2390 Lichtenstein syndrome331184Disease
90023 Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency331184Disease
369852 Congenital neutropenia-myelofibrosis-nephromegaly syndrome331184Disease
169142 Recurrent infections due to specific granule deficiency331184Disease
183681 Congenital functional phagocyte defect101985Category
674896 Non-syndromic congenital phagocyte functional defect183681Category
228423 GATA2 deficiency spectrum674896Disease
183707 Infantile LAD-like disease due to RAC2 deficiency674896Disease
2587 Myeloperoxidase deficiency674896Disease
619941 Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency674896Disease
674648 Syndrome with congenital phagocyte functional defect as a major feature183681Category
447740 Aggressive periodontitis674648Disease
101992 Immunodeficiency due to a complement cascade protein anomaly101988Category
459345 Immunodeficiency due to a complement cascade component deficiency101992Category
331187 Immunodeficiency due to MASP-2 deficiency459345Disease
331190 Immunodeficiency due to ficolin3 deficiency459345Disease
169147 Immunodeficiency due to a classical component pathway complement deficiency459345Disease
280133 Complement component 3 deficiency459345Disease
169150 Immunodeficiency due to a late component of complement deficiency459345Disease
459348 Immunodeficiency due to a complement regulatory deficiency101992Category
2966 Properdin deficiency459348Disease
169467 Recurrent Neisseria infections due to factor D deficiency459348Disease
200418 Immunodeficiency with factor I anomaly459348Disease
200421 Immunodeficiency with factor H anomaly459348Disease
183710 Genetic susceptibility to infections due to particular pathogens101988Category
324294 T-cell immunodeficiency with epidermodysplasia verruciformis183710, 480549Disease
1930 Herpes simplex virus encephalitis166490, 183710, 98252, 98542Disease
748 Mendelian susceptibility to mycobacterial diseases183710Clinical group
319535 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency748Category
99898 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency319535Disease
319547 Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency319535Disease
319552 Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency319535Disease
319558 Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency319535Disease
319563 Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency319535, 477647, 481671Disease
699618 Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency319535Disease
477857 Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency319535Disease
699615 Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency319535Disease
319539 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency748Category
319569 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency319539Disease
319574 Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency319539Disease
331226 Susceptibility to infection due to TYK2 deficiency319539Disease
574957 Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency319539Disease
319543 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency748Category
319581 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency319543Disease
319589 Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency319543Disease
319595 Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency319543Disease
319600 Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency319543Disease
319605 X-linked mendelian susceptibility to mycobacterial diseases748Disease
70592 Transient predisposition to invasive pyogenic bacterial infection183710Disease
391311 Susceptibility to viral and mycobacterial infections due to STAT1 deficiency183710Disease
457088 Predisposition to invasive fungal disease due to CARD9 deficiency183710Disease
290839 Autoinflammatory syndrome with immune deficiency101988Category
300359 PLCG2-associated antibody deficiency and immune dysregulation182228, 280373, 290839, 324933, 79391Disease
619953 Familial hyperinflammatory lymphoproliferative immunodeficiency290839Disease
566067 CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome290839, 324924Disease
331193 Other immunodeficiency syndromes due to defects in innate immunity101988Category
431156 Primary immunodeficiency with predisposition to severe viral infection101988Category
574918 Predisposition to severe viral infection due to IRF7 deficiency431156Disease
431166 Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection431156Disease
437552 Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity431156, 506219Disease
179006 Primary immunodeficiency due to a defect in adaptive immunity101997Category
83471 T-cell immunodeficiency with thymic aplasia179006Disease
101972 Combined T and B cell immunodeficiency179006Clinical group
183660 Severe combined immunodeficiency101972, 506219Clinical group
317416 T-B+ severe combined immunodeficiency183660Clinical group
504523 Severe combined immunodeficiency due to LAT deficiency317416Disease
276 T-B+ severe combined immunodeficiency due to gamma chain deficiency317416Disease
35078 T-B+ severe combined immunodeficiency due to JAK3 deficiency317416Disease
169154 T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency317416Disease
169157 T-B+ severe combined immunodeficiency due to CD45 deficiency317416Disease
169160 T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta317416Disease
228003 Severe combined immunodeficiency due to CORO1A deficiency317416Disease
169095 Severe combined immunodeficiency due to FOXN1 deficiency317416, 331220Disease
317419 T-B- severe combined immunodeficiency183660Clinical group
275 Severe combined immunodeficiency due to DCLRE1C deficiency317419Disease
935 Short-limb skeletal dysplasia with severe combined immunodeficiency317419Disease
33355 Reticular dysgenesis317419Disease
317425 Severe combined immunodeficiency due to DNA-PKcs deficiency317419Disease
331206 Severe combined immunodeficiency due to complete RAG1/2 deficiency317419Disease
688543 Reticular dysgenesis-like severe combined immunodeficiency317419Disease
397802 T+ B+ severe combined immunodeficiency183660Clinical group
480549 Non-severe combined immunodeficiency101972, 506219Clinical group
911 Combined immunodeficiency due to ZAP70 deficiency480549Disease
34592 Immunodeficiency by defective expression of MHC class I480549Disease
169082 Combined immunodeficiency due to CD3gamma deficiency480549Disease
169085 Susceptibility to respiratory infections associated with CD8alpha chain mutation480549Disease
228000 Idiopathic CD4 lymphocytopenia480549Biological anomaly
231154 Combined immunodeficiency due to partial RAG1 deficiency480549Disease
464336 BENTA disease480549Disease
653751 X-linked combined immunodeficiency due to SASH3 deficiency480549Disease
676039 Combined immunodeficiency due to FOXN1 haploinsufficiency480549Disease
647804 Combined immunodeficiency due to FCHO1 deficiency480549Disease
688571 Combined immunodeficiency with low immunoglobulins and normal B cells480549Clinical group
695191 Late-onset combined immunodeficiency due to ICOSL deficiency688571Disease
697403 Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency688571Disease
697394 Combined immunodeficiency due to c-REL deficiency688571Disease
699578 Combined immunodeficiency with low Ig due to BCL10 deficiency688571Disease
697414 Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation688571Disease
697389 Combined immunodeficiency due to HELIOS deficiency688571Disease
697385 Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency688571Disease
699593 Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency697385Clinical subtype
699596 Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency697385Clinical subtype
695183 Late-onset combined immunodeficiency due to ICOS deficiency688571Disease
397787 Combined immunodeficiency due to IKBKB deficiency688571Disease
183663 Hyper-IgM syndrome with susceptibility to opportunistic infections688571Disease
101088 X-linked hyper-IgM syndrome183663Clinical subtype
101090 Hyper-IgM syndrome type 3183663Clinical subtype
447737 Combined immunodeficiency due to DOCK2 deficiency688571Disease
357237 Combined immunodeficiency due to CARD11 deficiency688571Disease
476113 Combined immunodeficiency due to TFRC deficiency688571Disease
357329 Combined immunodeficiency due to IL21R deficiency688571Disease
688563 Combined immunodeficiency with normal Ig and poor specific antibody response480549Clinical group
397964 Combined immunodeficiency due to MALT1 deficiency688563Disease
688594 Combined immunodeficiency due to RELB deficiency169355, 688563Disease
695164 Combined immunodeficiency with low B cells and hypogammaglobulinemia480549Category
700205 Combined immunodeficiency due to IKBKB gain-of-function mutation695164Disease
217390 Combined immunodeficiency due to DOCK8 deficiency695164Disease
447731 NIK deficiency695164Disease
314689 Combined immunodeficiency due to STK4 deficiency695164Disease
39041 Omenn syndrome695164Disease
504530 Combined immunodeficiency due to Moesin deficiency695164Disease
101977 Immunodeficiency predominantly affecting antibody production179006Category
1006 Alopecia antibody deficiency101977, 79364Disease
169443 Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells101977Category
70593 Immunodeficiency due to selective anti-polysaccharide antibody deficiency169443Disease
183669 Agammaglobulinemia101977Category
229717 Non-syndromic agammaglobulinemia183669Disease
47 X-linked agammaglobulinemia229717Clinical subtype
33110 Autosomal non-syndromic agammaglobulinemia229717Clinical subtype
229720 Syndromic agammaglobulinemia183669Category
693627 Agammaglobulinemia-skin involvement-failure to thrive syndrome229720, 79391Disease
331232 Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells101977Category
169139 Transient hypogammaglobulinemia of infancy331232Disease
2571 X-linked immunoneurologic disorder331232Disease
169110 Immunoglobulin heavy chain deficiency331232Disease
183675 Recurrent infections associated with rare immunoglobulin isotypes deficiency331232Disease
331235 Selective IgM deficiency331232Disease
331240 Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells101977, 506219Category
183666 Hyper-IgM syndrome without susceptibility to opportunistic infections331240Disease
101089 Hyper-IgM syndrome type 2183666Clinical subtype
101091 Hyper-IgM syndrome type 4183666Clinical subtype
101092 Hyper-IgM syndrome type 5183666Clinical subtype
696851 Common variable immunodeficiency and related disorders101977Category
696870 Common variable immunodeficiency phenotype due to germinal monogenic mutation696851Category
397596 Activated PI3K-delta syndrome696870Clinical group
693681 Activated PI3K-delta syndrome 2397596Disease
693661 Activated PI3K-delta syndrome 1397596Disease
317473 Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency696870Disease
697417 Common variable immunodeficiency phenotype due to SEC61A1 deficiency696870Disease
696945 X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency696870Disease
696942 Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency696870Disease
696931 Common variable immunodeficiency phenotype due to TWEAK deficiency696870Disease
696874 NFKB1-related immune dysregulation696870Disease
696925 Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency696870Disease
696907 Common variable immunodeficiency phenotype due to homozygous TACI deficiency696870Disease
696904 Common variable immunodeficiency phenotype due to IRF2BP2 deficiency696870Disease
696894 Common variable immunodeficiency phenotype due to CD21 deficiency696870Disease
696881 Common variable immunodeficiency phenotype due to CD19/CD81 deficiency696870Disease
696857 Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations696851Disease
696863 Common variable immunodeficiency phenotype due to somatic mutations696851Disease
169361 Immune dysregulation disease with immunodeficiency179006Category
158038 Primary hemophagocytic lymphohistiocytosis158032, 169361, 506219Clinical group
331249 Primary hemophagocytic lymphohistiocytosis with hypopigmentation158038Category
664482 Primary hemophagocytic lymphohistiocytosis without hypopigmentation158038Category
169355 Immunodeficiency syndrome with autoimmunity169361, 506219Category
275517 Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency169355Disease
444463 Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency169355, 182228, 280373Disease
699590 Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency169355Disease
658951 Early-onset immune dysregulation due to DOCK11 complete deficiency169361, 182231, 271870, 506219Disease
664456 Immune dysregulation disease with immunodeficiency associated with EBV susceptibility169361Clinical group
664734 EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature664456Clinical group
2442 X-linked lymphoproliferative disease664734Clinical group
331217 Syndrome with combined immunodeficiency179006Category
2951 Absent thumb-short stature-immunodeficiency syndrome331217Malformation syndrome
169090 Combined immunodeficiency due to CRAC channel dysfunction331217, 506219Disease
317428 Combined immunodeficiency due to ORAI1 deficiency169090Clinical subtype
317430 Combined immunodeficiency due to STIM1 deficiency169090Clinical subtype
169346 DNA repair defect other than combined T-cell and B-cell immunodeficiencies331217, 506219Category
505227 Combined immunodeficiency due to GINS1 deficiency169346Disease
75391 Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency169346Disease
169349 Immuno-osseous dysplasia331217Clinical group
329173 Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis324933, 331217Disease
331220 Syndome with combined immunodeficiency due to thymic defect331217Category
331223 Hyper-IgE syndrome331217Clinical group
656313 Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency331223Disease
619972 CADINS disease331223, 79391Disease
699599 ICHAD syndrome331217Disease
279943 Hereditary neutrophilia183770, 98004Disease
233655 Rare genetic vascular disease496924, 98053Category
86 Familial abdominal aortic aneurysm233655Disease
820 Sneddon syndrome182228, 233655, 496924, 71281, 90077Disease
51608 Generalized arterial calcification of infancy233655Disease
285014 Rare disease with thoracic aortic aneurysm and aortic dissection233655, 97962Category
229 Familial aortic dissection285014Disease
91387 Familial thoracic aortic aneurysm and aortic dissection284993, 285014Disease
284979 Neonatal Marfan syndrome284993, 285014Disease
284984 Aneurysm-osteoarthritis syndrome284993, 285014Disease
289601 Hereditary arterial and articular multiple calcification syndrome233655Disease
404553 Deficiency of adenosine deaminase 2156143, 233655, 280369, 477647, 481671Disease
271870 Rare genetic systemic or rheumatologic disease98053Category
2848 Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome182231, 271870Disease
521450 LAMA5-related multisystemic syndrome182222, 271870Disease
300382 Progeroid and marfanoid aspect-lipodystrophy syndrome182222, 271870Disease
329967 Intermittent hydrarthrosis182231, 271870, 486955Disease
444116 Hereditary amyloidosis271870Category
314652 Variant ABeta2M amyloidosis439246, 444116Disease
619249 Rare hereditary connective tissue disease271870Category
284993 Marfan syndrome and Marfan-related disorders182222, 619249Category
619238 Rare hereditary autoinflammatory disease271870Category
324924 Hereditary periodic fever syndrome101995, 324939, 619238Category
500062 Infantile-onset periodic fever-panniculitis-dermatosis syndrome324924Disease
477647 Type 1 interferonopathy619238, 93665Category
300345 Autosomal systemic lupus erythematosus182228, 477647, 481671, 506210Disease
699605 NEMO deleted exon 5 autoinflammatory syndrome477647, 481671Disease
324933 Mixed autoinflammatory and autoimmune syndrome319719, 619238, 93665Category
324530 Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation324933Disease
48104 Pyoderma gangrenosum290842, 324927, 619238Disease
538863 Classic pyoderma gangrenosum48104Clinical subtype
538866 Pustular pyoderma gangrenosum48104Clinical subtype
538869 Bullous pyoderma gangrenosum48104Clinical subtype
538872 Vegetative pyoderma gangrenosum48104Clinical subtype
275742 Genetic infertility98053Category
399980 Rare genetic male infertility275742Category
399764 Male infertility due to gonadal dysgenesis or sperm disorder399980, 98048Category
98313 Male infertility due to gonadal dysgenesis399764Category
399771 Male infertility due to sperm disorder399764Category
399775 Male infertility with spermatogenesis disorder399771Category
399786 Male infertility with spermatogenesis disorder due to single gene mutation399775Category
399805 Male infertility with azoospermia or oligozoospermia due to single gene mutation399786Disease
399808 Male infertility with teratozoospermia due to single gene mutation399786Disease
529970 Male infertility due to acephalic spermatozoa399808Clinical subtype
137893 Male infertility due to large-headed multiflagellar polyploid spermatozoa399808Clinical subtype
171709 Male infertility due to globozoospermia399808Clinical subtype
399813 Male infertility due to sperm motility disorder399771Category
276234 Non-syndromic male infertility due to sperm motility disorder399813Disease
399983 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin399980Category
399685 Rare male infertility due to testicular endocrine disorder399572, 399983Category
399994 Rare male infertility due to adrenal disorder of genetic origin399983Category
399998 Male infertility due to obstructive azoospermia of genetic origin399980Category
400003 Rare genetic disorder with obstructive azoospermia399998Category
400008 Rare genetic female infertility275742Category
399877 Rare female infertility due to gonadal dysgenesis400008, 98049Category
400011 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin400008Category
399839 Rare female infertility due to a congenital hypogonadotropic hypogonadism399831, 400011Category
399846 Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism399839Category
400018 Rare female infertility due to adrenal disorder of genetic origin400011Category
400022 Rare female infertility due to an anomaly of ovarian function of genetic origin400011Category
400025 Female infertility due to an implantation defect of genetic origin400008Category
404469 Rare female infertility due to oocyte maturation defect400008, 98049Category
488191 Female infertility due to oocyte meiotic arrest404469Disease
404466 Female infertility due to zona pellucida defect404469Disease
98301 Laminopathy98053Category
300755 Laminopathy with striated muscle involvement98301Category
300758 Laminopathy with peripheral neuropathy98301Category
300763 Laminopathy with lipodystrophy98301Category
300766 Laminopathy with premature aging98301Category
363250 Ciliopathy98053Category
156162 Renal ciliopathy363250Category
352540 Oncogenic osteomalacia156162, 68415, 93419, 93603Disease
156165 Retinal ciliopathy363250Category
156168 Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene156165Category
156171 Retinal ciliopathy due to mutation in the RPGR gene156165Category
156174 Retinal ciliopathy due to mutation in the RPGRIP gene156165Category
156177 Retinal ciliopathy due to mutation in Usher gene156165Category
156180 Retinal ciliopathy due to mutation in nephronophthisis gene156165Category
156183 Retinal ciliopathy due to mutation in Bardet-Biedl gene156165Category
250805 Serpinopathy98053Category
250808 Serpinopathy with toxic serpin polymerization250805Category
250811 Serpinopathy with loss of serpin function250805Category
98006 Rare neurologic diseaseCategory
90058 Spinal cord injury98006Particular clinical situation in a disease or syndrome
90056 Moderate and severe traumatic brain injury98006Particular clinical situation in a disease or syndrome
363746 Balint syndrome519343, 98006Clinical syndrome
398147 Persistent idiopathic facial pain98006Disease
423662 Rare autonomic nervous system disorder98006Category
441 Pure autonomic failure182058, 423662Disease
396 Chronic hiccup423662Disease
443084 Baroreflex failure423662Clinical syndrome
101998 Rare epilepsy98006Category
139426 Perioral myoclonia with absences98259Disease
139431 Epilepsy with eyelid myoclonia98259Disease
363567 Acute encephalopathy with inflammation-mediated status epilepticus166484, 98259Clinical group
163703 Febrile infection-related epilepsy syndrome363567Disease
363549 Acute encephalopathy with biphasic seizures and late reduced diffusion363567Disease
363558 New-onset refractory status epilepticus363567, 98260Disease
1544 Benign focal seizures of adolescence98260Disease
166484 Inflammatory and autoimmune disease with epilepsy101998Category
117 Behçet disease156140, 166484, 280926, 280930, 280933, 290842, 324936, 324953, 567558Disease
900 Granulomatosis with polyangiitis156152, 166484, 209007, 567560Disease
1214 Progressive hemifacial atrophy102005, 166484Disease
1459 Celiac disease-epilepsy-cerebral calcification syndrome166484Disease
1929 Rasmussen subacute encephalitis166484, 98255Disease
83467 Morvan syndrome166484, 221114, 98750Disease
93552 Pediatric systemic lupus erythematosus166484, 182228, 264704, 280373, 567560, 93573Disease
624166 Non-specific autoimmune supratentorial encephalitis with characteristic antibodies166484, 36388, 622014Disease
624178 Non-specific autoimmune supratentorial encephalitis without characteristic antibodies166484, 36388, 622014Disease
166490 Infectious disease with epilepsy101998Category
2806 Subacute sclerosing leukoencephalitis166490, 98255Disease
297 Tick-borne encephalitis166490, 98252Disease
33475 Meningococcal meningitis166490, 98010Disease
55655 Pneumococcal meningitis163582, 166490, 98010Disease
79139 Japanese encephalitis166490, 98252Disease
83476 West-Nile encephalitis166490, 98252Disease
83482 Mycoplasma encephalitis166490, 98252Disease
83483 La Crosse encephalitis166490, 98252Disease
83484 St. Louis encephalitis166490, 98252Disease
83593 Western equine encephalitis166490, 98252Disease
83594 Eastern equine encephalitis166490, 98252Disease
83595 Colorado tick fever166490, 98252Disease
83597 Acute disseminated encephalomyelitis166490, 228145, 499047, 622014Disease
592894 Acute disseminated encephalomyelitis with anti-MOG antibodies83597Clinical subtype
592900 Acute disseminated encephalomyelitis without anti-MOG antibodies83597Clinical subtype
83600 Encephalitis lethargica166490, 306666, 98255Disease
83616 Rubella panencephalitis166490, 98252, 98255Disease
637051 Borna virus encephalitis166490, 98252Disease
102000 Medullar disease98006Category
623801 Acute flaccid myelitis102000Disease
3280 Syringomyelia102000Clinical group
99857 Secondary syringomyelia3280Disease
831 Congenital cervical spinal stenosis102000Disease
90021 Radiation myelitis102000, 521132Disease
139417 Acute transverse myelitis102000Disease
592873 Acute transverse myelitis with anti-MOG antibodies139417Clinical subtype
139423 Idiopathic acute transverse myelitis139417Clinical subtype
102002 Rare ataxia98006Category
247239 Non-hereditary degenerative ataxia102002Category
227510 Multiple system atrophy, cerebellar type102, 247239Clinical subtype
247234 Sporadic adult-onset ataxia of unknown etiology247239Disease
247242 Acquired ataxia102002Category
623638 Immune-mediated cerebellar ataxia247242, 622014Clinical group
624268 Non-specific autoimmune cerebellar ataxia without characteristic antibodies623638Disease
623626 Paraneoplastic cerebellar degeneration36388, 623638Disease
624244 Postinfectious cerebellitis623638Disease
624259 Non-specific autoimmune cerebellar ataxia with characteristic antibodies623638Disease
83601 Steroid-responsive encephalopathy associated with autoimmune thyroiditis177101, 247242, 622014, 98033Disease
247245 Superficial siderosis247242Disease
102003 Rare movement disorder98006Category
3198 Stiff person spectrum disorder102003, 181381, 182064Disease
438266 Progressive encephalomyelitis with rigidity and myoclonus3198Clinical subtype
443192 Classic stiff person syndrome3198Clinical subtype
443804 Focal stiff limb syndrome3198Clinical subtype
68402 Rare parkinsonian disorder102003Category
306666 Rare parkinsonian syndrome due to neurodegenerative disease68402Category
75567 Primary progressive freezing gait306666Clinical syndrome
97349 Postencephalitic parkinsonism306666, 98542Disease
97355 Caribbean parkinsonism306666, 89043Disease
98933 Multiple system atrophy, parkinsonian type102, 306666Clinical subtype
306679 Rare parkinsonian syndrome due to intoxication68402Category
306682 Manganese poisoning306679, 556508Disease
306686 Delayed encephalopathy due to carbon monoxide poisoning306679, 556508Disease
306692 Cyanide-induced parkinsonism-dystonia306679, 556508Disease
391655 Off-periods in Parkinson disease not responding to oral treatment68402Particular clinical situation in a disease or syndrome
71519 Psychogenic movement disorders102003Clinical syndrome
306695 Miscellaneous movement disorder due to neurodegenerative disease102003Category
204 Sporadic Creutzfeldt-Jakob disease306695, 576356Disease
102 Multiple system atrophy182058, 182070, 306695Disease
454700 Acquired Creutzfeldt-Jakob disease306695, 576360Clinical group
576370 Variant Creutzfeldt-Jakob disease454700Disease
576379 Iatrogenic Creutzfeldt-Jakob disease454700Disease
454745 Kuru306695, 576360Disease
454742 Variably protease-sensitive prionopathy306695, 576356Disease
306773 Hyperekplexia102003Clinical group
306776 Sporadic hyperekplexia306773Disease
617440 Painful legs and moving toes syndrome102003Clinical syndrome
494457 Rare hyperkinetic movement disorder102003Category
68363 Rare dystonia494457Category
306741 Hemidystonia-hemiatrophy syndrome68363Disease
306712 Rare tremor disorder494457Category
3350 Tremor-nystagmus-duodenal ulcer syndrome306712Disease
238606 Primary orthostatic tremor306712Disease
306715 Rare choreic movement disorder494457Category
306727 Postinfectious autoimmune disease with chorea306715Category
66624 PANDAS306727Disease
306731 Sydenham chorea306727Particular clinical situation in a disease or syndrome
306747 Rare myoclonus494457Category
306753 Rare disease with myoclonus as a major feature306747Category
1183 Opsoclonus-myoclonus syndrome102005, 306753, 36388, 519341Disease
137817 Arachnoiditis98006Disease
137929 Neonatal brainstem dysfunction98006Disease
182064 Rare neuroinflammatory or neuroimmunological disease98006Category
499096 Isolated optic neuritis182064, 499047Disease
499085 Chronic relapsing inflammatory optic neuritis499096Clinical subtype
659634 Relapsing isolated optic neuritis499096Clinical subtype
659626 Single isolated optic neuritis499096Clinical subtype
2103 Guillain-Barré syndrome182064, 207038Clinical group
98916 Acute inflammatory demyelinating polyradiculoneuropathy2103Disease
98917 Acute motor and sensory axonal neuropathy2103Disease
98918 Acute motor axonal neuropathy2103Disease
231413 Variant of Guillain-Barré syndrome2103Category
231416 Regional variant of Guillain-Barré syndrome231413Clinical group
79138 Bickerstaff brainstem encephalitis231416, 622014Disease
98919 Miller Fisher syndrome231416Disease
231426 Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome231416Disease
480701 Facial diplegia with paresthesias231416Disease
231419 Functional variant of Guillain-Barré syndrome231413Clinical group
231445 Paraparetic variant of Guillain-Barré syndrome231419Disease
231450 Acute pure sensory neuropathy231419Disease
231457 Acute pandysautonomia231419Disease
231466 Acute sensory ataxic neuropathy231419Disease
2932 Chronic inflammatory demyelinating polyneuropathy182064, 208978Disease
48162 Lewis-Sumner syndrome2932Clinical subtype
3437 Vogt-Koyanagi-Harada disease182064, 280898, 716195, 98641Disease
71279 CANOMAD syndrome182064, 208974, 209010Disease
102005 Brain inflammatory disease182064Category
97275 Encephalitis102005Category
622014 Autoimmune encephalitis97275Clinical group
624190 Paraneoplastic isolated brainstem encephalitis36388, 622014Disease
217253 NMDA receptor encephalitis622014Disease
623615 Autoimmune limbic encephalitis36388, 622014Disease
624199 Non-specific autoimmune brainstem encephalitis with characteristic antibodies622014Disease
624216 Non-specific autoimmune brainstem encephalitis without characteristic antibodies622014Disease
163921 Posttransplant acute limbic encephalitis565779, 97275Particular clinical situation in a disease or syndrome
98252 Infectious encephalitis163585, 97275, 98010Category
324625 Chikungunya98252Disease
99825 Nipah virus disease98252Disease
217260 Progressive multifocal leukoencephalopathy98252Disease
263524 Acute necrotizing encephalopathy of childhood98252Disease
324632 Hendra virus infection98252Disease
98255 Chronic encephalitis97275, 98010Category
48435 Postinfectious vasculitis102005, 445197Disease
449427 IgG4-related pachymeningitis102005, 596448Clinical subtype
228145 Multiple sclerosis variant182064Category
59298 Schilder disease228145Disease
71211 Neuromyelitis optica spectrum disorder228145, 499047Disease
592850 Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies71211Clinical subtype
592869 Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies71211Clinical subtype
592856 Neuromyelitis optica spectrum disorder with anti-MOG antibodies71211Clinical subtype
228157 Marburg acute multiple sclerosis228145Disease
228165 Baló concentric sclerosis228145Disease
477738 Pediatric multiple sclerosis228145Disease
284448 CLIPPERS182064Disease
182070 Rare neurodegenerative disease98006Category
684290 Hypertrophic olivary degeneration182070Disease
98534 Neurodegenerative disease with dementia182070, 89043Category
90020 Parkinson-dementia complex of Guam98534Disease
95432 Primary progressive aphasia98534Clinical group
250831 Logopenic progressive aphasia95432Disease
98535 Frontotemporal degeneration with dementia98534Clinical group
56970 Human prion disease98534Category
576356 Sporadic human prion disease56970Category
586130 Sporadic fatal insomnia576356Disease
576360 Acquired human prion disease56970Category
221074 Marchiafava-Bignami disease182070Disease
314566 Primary progressive apraxia of speech182070Disease
454706 Progressive muscular atrophy182070, 98503Disease
211047 Specific learning disability98006Clinical group
211053 Specific language disorder211047Clinical group
1799 Familial developmental dysphasia211053Clinical syndrome
221117 Gerstmann syndrome98006Disease
238624 Idiopathic intracranial hypertension98006Disease
252190 Inherited nervous system cancer-predisposing syndrome98006Category
2481 Neurocutaneous melanocytosis252190, 294057Disease
443101 Hypothalamic adipsic hypernatraemia syndrome181384, 252190Disease
276174 Idiopathic recurrent stupor98006Disease
3465 Worster-Drought syndrome98006Disease
29822 Spontaneous periodic hypothermia98006Disease
36388 Paraneoplastic neurologic syndrome98006Category
43393 Lambert-Eaton myasthenic syndrome36388, 464764, 98750Disease
71505 Cancer-associated retinopathy36388, 716410Disease
208999 Paraneoplastic sensory ganglionopathy208984, 36388Disease
68354 Rare sleep disorder98006Category
33208 Idiopathic hypersomnia68354Disease
33543 Kleine-Levin syndrome68354Disease
73267 Non-24-hour sleep-wake syndrome68354Disease
420789 Autoimmune encephalopathy with parasomnia and obstructive sleep apnea68354, 98033Disease
619284 Narcolepsy68354Clinical group
2073 Narcolepsy type 1619284Disease
83465 Narcolepsy type 2619284Disease
68381 Neuromuscular disease98006Category
71864 Muscular channelopathy68381Category
98750 Autoimmune neurological channelopathy71864Category
84142 Isaacs syndrome221114, 98750Disease
98472 Skeletal muscle disease68381Category
206976 Periodic paralysis206634Clinical group
79102 Thyrotoxic periodic paralysis206976Disease
206638 Acquired skeletal muscle disease98472Category
1320 Idiopathic camptocormia206638Morphological anomaly
592 Macrophagic myofasciitis206638Disease
98482 Idiopathic inflammatory myopathy182228, 206638Category
611 Inclusion body myositis98482Disease
732 Polymyositis567558, 98482Disease
221 Dermatomyositis290836, 567558, 98482Disease
645617 Amyopathic dermatomyositis221Clinical subtype
645626 Adermatopathic dermatomyositis221Clinical subtype
645613 Classical dermatomyositis221Clinical subtype
3165 Eosinophilic fasciitis280373, 90077, 98482Disease
81 Antisynthetase syndrome264745, 98482Disease
48918 Focal myositis98482Disease
206569 Immune-mediated necrotizing myopathy98482Disease
206572 Overlap myositis98482Disease
247718 Inflammatory myopathy with abundant macrophages98482Disease
247724 Idiopathic eosinophilic myositis98482Disease
329888 Juvenile idiopathic inflammatory myopathy98482Category
93568 Juvenile polymyositis264704, 280373, 329888, 567558Disease
93672 Juvenile dermatomyositis264704, 280373, 290836, 329888, 567558Disease
329894 Juvenile overlap myositis329888Disease
206982 Muscular tumor206638Category
780 Rhabdomyosarcoma206982, 3394Disease
99756 Alveolar rhabdomyosarcoma780Clinical subtype
293199 Pleomorphic rhabdomyosarcoma780Clinical subtype
99757 Embryonal rhabdomyosarcoma780Clinical subtype
79105 Myxofibrosarcoma206982, 3394Disease
206988 Infectious, fungal or parasitic myopathy206638Category
206991 Viral myositis206988Disease
206994 Bacterial myositis206988Disease
206997 Parasitic myositis206988Category
863 Trichinellosis163588, 206997Disease
207000 Fungal myositis206988Disease
447881 Idiopathic dropped head syndrome206638Clinical syndrome
98491 Neuromuscular junction disease68381Category
98494 Acquired neuromuscular junction disease98491Category
1267 Botulism163582, 519286, 519347, 98494Disease
228371 Foodborne botulism1267Clinical subtype
230800 Toxin-mediated infectious botulism1267Clinical subtype
178475 Wound botulism230800Etiological subtype
178481 Intestinal botulism230800Clinical subtype
178478 Infant botulism178481Clinical subtype
178487 Adult intestinal botulism178481Clinical subtype
254504 Inhalational botulism1267Clinical subtype
254509 Iatrogenic botulism1267Clinical subtype
464764 Immune-mediated acquired neuromuscular junction disease98494Clinical group
589 Myasthenia gravis464764, 519347Disease
391490 Adult-onset myasthenia gravis589Clinical subtype
391497 Juvenile myasthenia gravis589Clinical subtype
391504 Transient neonatal myasthenia gravis398091, 589Clinical subtype
206575 Rippling muscle disease with myasthenia gravis464764Disease
98503 Motor neuron disease68381Category
98506 Acquired motor neuron disease98503Category
2912 Poliomyelitis98010, 98506Disease
2942 Postpoliomyelitis syndrome98506Disease
65684 Monomelic amyotrophy98506Disease
94091 Mills syndrome98506Disease
99965 O'Sullivan-McLeod syndrome98506Disease
71281 Rare central nervous system and retinal vascular disease98006Category
482092 Rare idiopathic macular telangiectasia71281, 716432, 716466Category
353344 Idiopathic macular telangiectasia type 1482092Disease
353351 Idiopathic macular telangiectasia type 3482092Disease
838 Susac syndrome182228, 496924, 71281, 716459Disease
90065 Acquired aneurysmal subarachnoid hemorrhage71281Particular clinical situation in a disease or syndrome
102006 Neurovascular malformation71281Category
353334 Congenital retinal arteriovenous communication102006, 716450Morphological anomaly
209943 IRVAN syndrome71281, 716459Disease
329217 Cerebral sinovenous thrombosis71281Disease
353356 Vasoproliferative tumor of the retina101950, 71281Disease
439175 Pediatric arterial ischemic stroke496924, 71281Clinical syndrome
447788 Cerebral visual impairment519343, 71281Clinical syndrome
477768 Moyamoya angiopathy71281Clinical group
137577 Neonatal hypoxic and ischemic brain injury71281Particular clinical situation in a disease or syndrome
83452 Complex regional pain syndrome98006Disease
99994 Complex regional pain syndrome type 283452Clinical subtype
99995 Complex regional pain syndrome type 183452Clinical subtype
87277 Rare intellectual disability98006Category
102369 Rare syndromic intellectual disability87277Category
98010 Infectious disease of the nervous system98006Category
3299 Tetanus163582, 98010Disease
770 Rabies163585, 98010Disease
289326 Tropical spastic paraparesis163585, 98010Disease
641396 Central nervous system tuberculosis3389, 98010Disease
98022 Rare headache98006Category
157843 Trigeminal autonomic cephalalgia98022Clinical group
57145 SUNCT syndrome157843Disease
157835 Paroxysmal hemicrania157843Disease
443070 Hemicrania continua157843Disease
276429 Hypnic headache98022Disease
284388 Reversible cerebral vasoconstriction syndrome98022Clinical syndrome
443180 Spontaneous intracranial hypotension98022Disease
353253 Burning mouth syndrome98022Disease
98033 Rare neurologic disease with psychiatric involvement98006Category
89043 Rare dementia98033Category
97353 Dementia pugilistica89043Disease
98542 Infectious disease with dementia89043Category
157823 Klüver-Bucy syndrome98033Clinical syndrome
648919 Idiopathic catatonia98033Disease
525738 Prepubertal anorexia nervosa181384, 98033Disease
443173 Postpartum psychosis163637, 98033Disease
623789 Body integrity dysphoria98033Disease
641496 Childhood-onset schizophrenia98033Disease
98062 Rare nervous system tumor98006, 98057Category
46135 Primary central nervous system lymphoma279911, 289644, 98062Disease
251558 Rare tumor of neuroepithelial tissue98062Category
182067 Glial tumor251558Clinical group
301 Ependymal tumor182067Clinical group
530792 RELA fusion-positive ependymoma301Disease
251646 Anaplastic ependymoma301Disease
251636 Ependymoma301Disease
251639 Subependymoma301Disease
251643 Myxopapillary ependymoma301Disease
94 Astrocytoma182067Clinical group
251561 High-grade astrocytoma94Clinical group
695136 Infant-type hemispheric glioma251561Disease
715694 Infant-type hemispheric glioma NTRK-altered695136Etiological subtype
715697 Infant-type hemispheric glioma ALK-altered695136Etiological subtype
715701 Infant-type hemispheric glioma ROS1-altered695136Etiological subtype
715704 Infant-type hemispheric glioma MET-altered695136Etiological subtype
715721 High-grade astrocytoma with piloid features251561Disease
715724 Diffuse pediatric-type high-grade glioma-H3-wildtype-IDH-wildtype251561Disease
715950 Diffuse hemispheric glioma-H3 G34-mutant251561Disease
497188 Diffuse intrinsic pontine glioma251561Disease
360 Glioblastoma251561Disease
251576 Gliosarcoma360Histopathological subtype
251579 Giant cell glioblastoma360Histopathological subtype
251582 Gliomatosis cerebri251561Disease
251589 Anaplastic astrocytoma251561Disease
251592 Low-grade astrocytoma94Clinical group
251595 Diffuse astrocytoma251592Disease
251598 Protoplasmic astrocytoma251595Histopathological subtype
251601 Fibrillary astrocytoma251595Histopathological subtype
251604 Gemistocytic astrocytoma251595Histopathological subtype
251607 Pleomorphic xanthoastrocytoma251592Disease
251612 Pilocytic astrocytoma251592Disease
673585 Pilocytic astrocytoma with histological features of anaplasia251612Clinical subtype
673580 Classic pilocytic astrocytoma251612Clinical subtype
251615 Pilomyxoid astrocytoma251612Histopathological subtype
251618 Subependymal giant cell astrocytoma251592Disease
251623 Pituicytoma251592Disease
717268 Circumscribed astrocytic glioma94Category
46484 Oligodendroglial tumor182067Clinical group
251627 Oligodendroglioma46484Disease
251630 Anaplastic oligodendroglioma46484Disease
251651 Oligoastrocytic tumor182067Clinical group
251656 Oligoastrocytoma251651Disease
251663 Anaplastic oligoastrocytoma251651Disease
251668 Glial tumor of neuroepithelial tissue with unknown origin182067Clinical group
251671 Angiocentric glioma251668Disease
251674 Chordoid glioma251668Disease
251679 Astroblastoma251668Disease
251852 Embryonal tumor of neuroepithelial tissue251558Category
616 Medulloblastoma251852Disease
251855 Anaplastic/large cell medulloblastoma616Histopathological subtype
251858 Medulloblastoma with extensive nodularity616Histopathological subtype
251863 Desmoplastic/nodular medulloblastoma616Histopathological subtype
251867 Classic medulloblastoma616Histopathological subtype
99966 Atypical teratoid rhabdoid tumor251852, 3394Disease
251870 Central nervous system embryonal tumor251852Clinical group
635 Neuroblastoma251870Disease
1957 Esthesioneuroblastoma251870Disease
251877 Ganglioneuroblastoma251870Disease
656417 Embryonal tumor with multilayered rosettes251870Disease
251896 Choroid plexus tumor251558Clinical group
2807 Papilloma of choroid plexus251896Disease
251899 Choroid plexus carcinoma251896Disease
251902 Atypical papilloma of choroid plexus251896Disease
251905 Pineal tumor of neuroepithelial tissue251558Clinical group
251909 Pineoblastoma251905Disease
251912 Pineocytoma251905Disease
251915 Papillary tumor of the pineal region251905Disease
251919 Pineal parenchymal tumor of intermediate differentiation251905Disease
251924 Neuronal tumor251558Clinical group
73256 Central neurocytoma251924Disease
251927 Extraventricular neurocytoma251924Disease
251931 Cerebellar liponeurocytoma251924Disease
251934 Mixed neuronal-glial tumor251558Clinical group
251937 Gangliocytoma251934Disease
251940 Desmoplastic infantile astrocytoma/ganglioglioma251934Disease
251946 Dysembryoplastic neuroepithelial tumor251934Disease
251949 Ganglioglioma251934Disease
251957 Anaplastic ganglioglioma251934Disease
251962 Papillary glioneuronal tumor251934Disease
251975 Rosette-forming glioneuronal tumor251934Disease
251992 Ganglioneuroma251934Disease
251995 Primary germ cell tumor of central nervous system363579, 98062Category
48736 Embryonal carcinoma of the central nervous system180226, 251995Clinical subtype
91352 Germinoma of the central nervous system182127, 251995, 95503Clinical subtype
252006 Yolk sac tumor of central nervous system251995, 876Clinical subtype
252015 Choriocarcinoma of the central nervous system251995Disease
252018 Teratoma of the central nervous system251995, 883Clinical subtype
252021 Mixed germ cell tumor of central nervous system180234, 251995Clinical subtype
252025 Tumor of meninges98062Category
2495 Meningioma252025, 95503Disease
252028 Primary melanocytic tumor of central nervous system252025Category
252031 Diffuse leptomeningeal melanocytosis252028Disease
252046 Meningeal melanocytoma252028Disease
252050 Primary melanoma of the central nervous system252028Disease
263662 Familial multiple meningioma252025Disease
252054 Hemangioblastoma98062Disease
252057 Tumor of cranial and spinal nerves98062Category
2086 Optic pathway glioma252057, 95503Disease
3148 Malignant peripheral nerve sheath tumor252057, 3394Disease
252212 Malignant triton tumor3148Histopathological subtype
252128 Malignant peripheral nerve sheath tumor with perineurial differentiation3148Histopathological subtype
85102 Perineurioma252057Clinical group
100002 Extraneural perineurioma85102Disease
100000 Reticular perineurioma100002Clinical subtype
100001 Sclerosing perineurioma100002Clinical subtype
100003 Intraneural perineurioma85102Disease
252131 Benign peripheral nerve sheath tumor252057Category
252164 Benign schwannoma252131Disease
252175 Vestibular schwannoma252164, 98061Clinical subtype
252183 Neurofibroma252131Disease
300501 Painful orbital and systemic neurofibromas-marfanoid habitus syndrome252131Malformation syndrome
590539 Isolated melanotic schwannoma252131, 3394Disease
279897 Primary oculocerebral lymphoma101950, 279911, 98062Disease
98496 Rare peripheral neuropathy98006Category
182086 Acquired peripheral neuropathy98496Category
2901 Neuralgic amyotrophy182086Disease
60039 Pudendal nerve entrapment syndrome182086Disease
206613 Infectious disease with peripheral neuropathy182086Category
3020 Ramsay Hunt syndrome163585, 206613Disease
548 Leprosy163582, 206613, 399824Disease
91546 Lyme disease163582, 206613Disease
207038 Acute and subacute inflammatory demyelinating polyneuropathy182086Category
206594 Subacute inflammatory demyelinating polyneuropathy207038Disease
208974 Chronic acquired demyelinating polyneuropathy182086Clinical group
2905 POEMS syndrome208974, 209010, 209016, 98282Disease
641 Multifocal motor neuropathy208974Disease
208978 Chronic polyradiculoneuropathy208974Clinical group
208984 Acquired sensory ganglionopathy182086Category
208989 Non-paraneoplastic sensory ganglionopathy208984Disease
209007 Systemic inflammatory disease associated with an acquired peripheral neuropathy182086Category
727 Microscopic polyangiitis156152, 209007, 567560Disease
767 Polyarteritis nodosa156143, 209007, 280369, 567560Disease
439737 Primary polyarteritis nodosa767Clinical subtype
439729 Cutaneous polyarteritis nodosa439737Clinical subtype
439755 Single-organ polyarteritis nodosa439737Clinical subtype
439762 Systemic polyarteritis nodosa439737Clinical subtype
439746 Secondary polyarteritis nodosa767Clinical subtype
809 Mixed connective tissue disease182104, 209007, 251312, 567558Disease
91138 Cryoglobulinemic vasculitis156149, 209007, 264973, 280369, 567560Disease
93554 Mixed cryoglobulinemia type II91138Etiological subtype
93555 Mixed cryoglobulinemia type III91138Etiological subtype
209010 Peripheral neuropathy associated with monoclonal gammopathy182086Category
91139 Simple cryoglobulinemia182228, 209010, 248365Disease
209004 Polyneuropathy associated with IgM monoclonal gammopathy209010Disease
209013 Acquired amyloid peripheral neuropathy182086Category
209016 Hematological disease associated with an acquired peripheral neuropathy182086Category
29073 Multiple myeloma209016, 98282Disease
86855 Plasmacytoma209016, 98282Disease
100021 Primary plasmacytoma of the bone86855Clinical subtype
100022 Extramedullary soft tissue plasmacytoma86855Clinical subtype
207046 Malignant lymphoma with peripheral neuropathy209016Category
33226 Waldenström macroglobulinemia207046, 300842Disease
206586 Neurolymphomatosis207046Disease
209019 Solid tumor associated with an acquired peripheral neuropathy182086Category
221109 Cranial neuralgia182086Clinical group
221078 Combined hyperactive dysfunction syndrome of the cranial nerves221109Disease
221091 Trigeminal neuralgia221109Disease
221098 Glossopharyngeal neuralgia221109Disease
664901 Trigeminal trophic syndrome221109, 90077Disease
221114 Acquired peripheral movement disorder182086Category
439202 Non-recovering obstetric brachial plexus lesion182086Disease
521123 Radiation-induced plexopathy182086, 521132Disease
658549 Idiopathic small fibers neuropathy182086Disease
662240 Frey syndrome182086Clinical syndrome
100073 Neurogenic thoracic outlet syndrome182086, 97330Clinical subtype
51890 Anterior cutaneous nerve entrapment syndrome182086Disease
2048 Foix-Chavany-Marie syndrome182086Malformation syndrome
2406 Locked-in syndrome98006Clinical syndrome
1314 Symmetrical thalamic calcifications98006Disease
466658 Rare disease with malignant hyperthermia98006Category
94093 Neuroleptic malignant syndrome466658Disease
43116 Serotonin syndrome466658Disease
466650 Exercise-induced malignant hyperthermia466658Disease
521236 Primary orthostatic disorder98006Category
182058 Primary orthostatic hypotension521236Clinical group
686468 Post 5-alpha-reductase inhibitors treatment syndrome98006Disease
686475 Post-selective serotonin reuptake inhibitor sexual dysfunction98006Disease
165711 Rare abdominal surgical diseaseCategory
1160 Chylous ascites165711Disease
49041 IgG4-related retroperitoneal fibrosis165711, 596448Clinical subtype
168803 Primary peritoneal tumor165711, 98057Category
676030 Primary benign peritoneal tumor168803Category
71274 Disseminated peritoneal leiomyomatosis506216, 676030Disease
676033 Well-differentiated papillary mesothelial tumour of the peritoneum676030Disease
675976 Adenomatoid tumour of the peritoneum676030Disease
168816 Peritoneal inclusion cyst676030Disease
168807 Primary malignant peritoneal tumor168803, 506216Category
26790 Pseudomyxoma peritonei168807Disease
83469 Desmoplastic small round cell tumor168807, 3394Disease
168811 Malignant peritoneal mesothelioma168807Disease
168829 Primary peritoneal carcinoma168807Disease
676036 Peritoneal mesothelioma in situ168807Disease
238593 IgG4-related mesenteritis165711, 596448Clinical subtype
293208 Celiac artery compression syndrome165711Disease
306553 Myospherulosis165711, 68329Disease
449400 IgG4-related aortitis165711, 596448Clinical subtype
57146 Rare hepatic diseaseCategory
101938 Rare vascular liver disease57146Category
480524 Idiopathic peliosis hepatis101938Disease
131 Budd-Chiari syndrome101938, 506210Disease
890 Hepatic veno-occlusive disease101938, 506210Disease
854 Non-malignant and non-cirrhotic portal vein thrombosis101938Clinical syndrome
699068 Fontan-associated liver disease101938, 101939, 496924, 506210Disease
596937 Portosinusoidal vascular disease101938Disease
596941 Incomplete septal cirrhosis596937Histopathological subtype
48372 Nodular regenerative hyperplasia of the liver506210, 596937Histopathological subtype
64743 Hepatoportal sclerosis596937Histopathological subtype
101939 Rare parenchymal liver disease57146Category
2137 Autoimmune hepatitis101939, 506210Disease
563576 Autoimmune hepatitis type 12137Clinical subtype
563581 Autoimmune hepatitis type 22137Clinical subtype
563589 Seronegative autoimmune hepatitis2137Clinical subtype
35063 Fulminant viral hepatitis101939, 506210Disease
90003 Inflammatory pseudotumor of the liver101939Disease
555434 Fibrohistiocytic inflammatory pseudotumor of the liver90003Clinical subtype
555437 Lymphoplasmacytic inflammatory pseudotumor of the liver284264, 90003Clinical subtype
209919 Idiopathic copper-associated cirrhosis101939Disease
210136 Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome101939, 264740Disease
243367 Acute fatty liver of pregnancy101939, 163637Disease
485426 Isolated congenital hepatic fibrosis101939, 506210Disease
562639 Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome101939, 101941, 506210Disease
69665 Intrahepatic cholestasis of pregnancy101940, 163637Disease
101941 Rare biliary tract disease57146Category
567983 Parenteral nutrition-associated cholestasis101941Particular clinical situation in a disease or syndrome
480512 Idiopathic ductopenia101941, 506210Disease
480506 Primary intrahepatic lithiasis101941Disease
480501 Choledochal cyst101941, 506210Morphological anomaly
447771 Sclerosing cholangitis101941, 506210Clinical group
171 Primary sclerosing cholangitis447771Disease
447764 IgG4-related sclerosing cholangitis447771, 596448Clinical subtype
447774 Secondary sclerosing cholangitis447771Disease
186 Primary biliary cholangitis101941, 506210Disease
779 Reynolds syndrome101941, 182228, 290836, 567558Disease
498345 Biliary atresia and associated disorders101941Category
498350 Syndromic biliary atresia498345Clinical group
440987 Isolated agenesis of gallbladder101941Morphological anomaly
521219 Mirizzi syndrome101941Clinical syndrome
101943 Rare hepatic and biliary tract tumor57146, 98059Category
306633 Rare tumor of gallbladder and extrahepatic biliary tract101943Category
56044 Carcinoma of gallbladder and extrahepatic biliary tract306633Clinical group
70567 Cholangiocarcinoma424936, 506210, 56044Disease
99978 Perihilar cholangiocarcinoma56044Disease
424991 Adenocarcinoma of the gallbladder and extrahepatic biliary tract56044Disease
424996 Squamous cell carcinoma of gallbladder and extrahepatic biliary tract56044Disease
529852 Combined hepatocellular carcinoma and cholangiocarcinoma424936, 506210, 56044Disease
100086 Gallbladder neuroendocrine tumor100101, 306633Disease
306636 Rare tumor of liver and intrahepatic biliary tract101943Category
449 Hepatoblastoma306636, 506210Disease
386 Hepatic cystic hamartoma306636Disease
54272 Hepatocellular adenoma306636Disease
178315 Undifferentiated embryonal sarcoma of the liver306636Disease
424933 Rare malignant epithelial tumor of liver and intrahepatic biliary tract306636Category
100085 Primary hepatic neuroendocrine carcinoma100101, 424933, 506210Disease
424936 Carcinoma of liver and intrahepatic biliary tract424933Category
88673 Hepatocellular carcinoma424936, 506210Clinical group
33402 Pediatric hepatocellular carcinoma88673Disease
210159 Adult hepatocellular carcinoma88673Disease
401920 Fibrolamellar hepatocellular carcinoma424936, 506210Disease
424943 Adenocarcinoma of the liver and intrahepatic biliary tract424936Disease
424970 Undifferentiated carcinoma of liver and intrahepatic biliary tract424936Disease
424975 Squamous cell carcinoma of liver and intrahepatic biliary tract424936Disease
424982 Biliary cystadenocarcinoma424936, 506210Disease
100035 Solitary necrotic nodule of the liver306636Disease
566841 Liver adenomatosis306636, 506210Disease
90052 Recurrent hepatitis C virus induced liver disease in liver transplant recipients565779, 57146Particular clinical situation in a disease or syndrome
90062 Acute liver failure57146Clinical syndrome
90073 Hepatitis B reinfection following liver transplantation565779, 57146Particular clinical situation in a disease or syndrome
402823 Hepatitis delta163585, 57146Disease
97955 Rare respiratory diseaseCategory
3347 Mounier-Kühn syndrome97955Clinical syndrome
63999 IgG4-related mediastinitis596448, 97955Clinical subtype
71198 Rare pulmonary hypertension97955Category
70591 Chronic thromboembolic pulmonary hypertension71198Disease
182090 Pulmonary arterial hypertension506222, 71198Category
275786 Drug- or toxin-induced pulmonary arterial hypertension182090Clinical group
275791 Pulmonary arterial hypertension associated with another disease182090Category
275798 Pulmonary arterial hypertension associated with connective tissue disease275791Clinical group
275803 Pulmonary arterial hypertension associated with congenital heart disease275791Clinical group
97214 Eisenmenger syndrome275803Malformation syndrome
275808 Pulmonary arterial hypertension associated with HIV infection275791Clinical group
275813 Pulmonary arterial hypertension associated with portal hypertension275791Clinical group
275823 Pulmonary arterial hypertension associated with schistosomiasis275791Clinical group
275828 Pulmonary arterial hypertension associated with chronic hemolytic anemia275791Clinical group
275837 Pulmonary hypertension owing to lung disease and/or hypoxia71198Clinical group
275844 Pulmonary hypertension with unclear multifactorial mechanism71198Clinical group
275853 Syndrome with pulmonary hypertension as a major feature71198Category
97957 Respiratory or thoracic malformation97955Category
182108 Thoracic malformation97957Category
2017 Sternal cleft180776, 182108Morphological anomaly
2391 Congenitally short costocoracoid ligament182108Malformation syndrome
3181 Sprengel deformity182108Morphological anomaly
182111 Respiratory malformation97957Category
98060 Rare respiratory tumor97955, 98057Category
466962 SMARCA4-deficient sarcoma of thorax3394, 98060Disease
150 Nasopharyngeal carcinoma289651, 98060, 98061Disease
101945 Rare bronchopulmonary and pleural cavity tumors98060Category
617916 Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia101945Disease
2420 Primary pulmonary lymphoma101945, 279911Disease
50251 Pleural mesothelioma101945Disease
675837 Diffused pleural mesothelioma50251Clinical subtype
675833 Localized pleural mesothelioma50251Clinical subtype
675841 Pleural mesothelioma in situ50251Clinical subtype
64741 Pulmonary blastoma101945Disease
64742 Pleuropulmonary blastoma101945Disease
99933 Pleuropulmonary blastoma type 164742Clinical subtype
99934 Pleuropulmonary blastoma type 264742Clinical subtype
99935 Pleuropulmonary blastoma type 364742Clinical subtype
284362 Fetal lung interstitial tumor64742Clinical subtype
70573 Small cell lung cancer101945Disease
97287 Bronchial neuroendocrine tumor100101, 101945Disease
284395 Well-differentiated fetal adenocarcinoma of the lung101945Disease
675822 Well-differentiated papillary mesothelial tumour of the pleura101945Disease
675814 Adenomatoid tumour of the pleura101945Disease
101944 Rare pulmonary disease97955Category
389 Langerhans cell histiocytosis101944, 182222, 506210, 98289Disease
687733 Pulmonary Langerhans cell histiocytosis389Clinical subtype
687741 Multisystem Langerhans cell histiocytosis389Clinical subtype
687738 Single-system multifocal Langerhans cell histiocytosis389Clinical subtype
687730 Unifocal Langerhans cell histiocytosis389Clinical subtype
1164 Allergic bronchopulmonary aspergillosis101944, 98052Disease
1303 Bronchiolitis obliterans101944, 506222Clinical group
658602 Transplant-related bronchiolitis obliterans1303Disease
658612 Non-transplant-related bronchiolitis obliterans1303Disease
3348 Tracheobronchopathia osteochondroplastica101944Disease
36238 Staphylococcal necrotizing pneumonia101944, 300579Disease
60026 Pulmonary nodular lymphoid hyperplasia101944Disease
60032 Recurrent respiratory papillomatosis101944, 98036Disease
70588 Meconium aspiration syndrome101944Disease
70590 Infantile apnea101944Disease
90060 Diffuse alveolar hemorrhage101944Clinical syndrome
140896 Severe acute respiratory syndrome101944, 163585Disease
171700 Diffuse panbronchiolitis101944Disease
178320 Acute lung injury101944Particular clinical situation in a disease or syndrome
182095 Interstitial lung disease101944, 506222Category
264656 Interstitial lung disease specific to childhood182095Category
264665 Primary interstitial lung disease specific to childhood264656Category
264670 Primary interstitial lung disease specific to childhood due to alveolar structure disorder264665Category
264683 Primary interstitial lung disease specific to childhood due to alveolar vascular disorder264665Category
264688 Congenital chylothorax264683Disease
264691 Isolated pulmonary capillaritis264683Disease
264694 Interstitial lung disease specific to infancy264665Category
91359 Chronic pneumonitis of infancy264694Disease
217557 Pulmonary interstitial glycogenosis264694Disease
217560 Neuroendocrine cell hyperplasia of infancy264694Disease
264699 Secondary interstitial lung disease specific to childhood associated with a systemic disease264656Category
264704 Secondary interstitial lung disease specific to childhood associated with a connective tissue disease264699Category
92 Juvenile idiopathic arthritis182231, 264704, 486955Clinical group
85410 Oligoarticular juvenile idiopathic arthritis280926, 92Disease
85414 Systemic-onset juvenile idiopathic arthritis92Disease
85436 Psoriasis-related juvenile idiopathic arthritis92Disease
85438 Enthesitis-related juvenile idiopathic arthritis280926, 92Disease
91140 Unspecified juvenile idiopathic arthritis92Disease
404580 Polyarticular juvenile idiopathic arthritis92Clinical group
85408 Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis280926, 404580Disease
85435 Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis404580Disease
264709 Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis264699Category
761 Immunoglobulin A vasculitis156149, 264709, 280369, 567560Disease
264714 Secondary interstitial lung disease specific to childhood associated with a granulomatous disease264699Category
264719 Secondary interstitial lung disease specific to childhood associated with a metabolic disease264699Category
264735 Interstitial lung disease specific to adulthood182095Category
264740 Primary interstitial lung disease specific to adulthood264735Category
747 Autoimmune pulmonary alveolar proteinosis264740Disease
70578 Adult acute respiratory distress syndrome264740Disease
98300 Idiopathic interstitial pneumonia264740Clinical group
2032 Idiopathic pulmonary fibrosis98300Disease
1302 Cryptogenic organizing pneumonia98300Disease
79126 Acute interstitial pneumonia98300Disease
79127 Respiratory bronchiolitis-interstitial lung disease syndrome98300Disease
79128 Lymphoid interstitial pneumonia98300Disease
91364 Non-specific interstitial pneumonia98300Disease
98852 Desquamative interstitial pneumonia98300Disease
300564 Combined pulmonary fibrosis-emphysema syndrome98300Disease
494428 Idiopathic pleuroparenchymal fibroelastosis98300Disease
182098 Pneumoconiosis264740Clinical group
2302 Asbestos intoxication182098Disease
133 Chronic beryllium disease182098Disease
264745 Secondary interstitial lung disease specific to adulthood associated with a systemic disease264735Category
264757 Interstitial lung disease in childhood and adulthood182095Category
264762 Primary interstitial lung disease in childhood and adulthood264757Category
99931 Idiopathic pulmonary hemosiderosis264762Disease
264930 Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder264762Category
264935 Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder264762Category
182101 Idiopathic eosinophilic pneumonia264935Clinical group
2902 Idiopathic chronic eosinophilic pneumonia182101, 98052Disease
724 Idiopathic acute eosinophilic pneumonia182101Disease
264944 Secondary interstitial lung disease in childhood and adulthood264757Category
99930 Secondary pulmonary hemosiderosis264944Disease
264949 Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease264944Category
375 Anti-glomerular basement membrane disease156146, 264949, 567560Disease
182104 Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease264949Category
264968 Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease264949Category
264973 Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis264949Category
156152 Anti-neutrophil cytoplasmic antibody-associated vasculitis156146, 264973, 280369Clinical group
264984 Exposure-related interstitial lung disease264944Category
31740 Hypersensitivity pneumonitis264984, 98052Disease
686462 Non-fibrotic hypersensitivity pneumonitis31740Clinical subtype
686465 Fibrotic hypersensitivity pneumonitis31740Clinical subtype
264978 Drug or radiation exposure-related interstitial lung disease264984Particular clinical situation in a disease or syndrome
420259 Secondary pulmonary alveolar proteinosis264944Disease
99932 Heiner syndrome264944Disease
411703 Pulmonary non-tuberculous mycobacterial infection101944, 163582Disease
439881 Plastic bronchitis101944Particular clinical situation in a disease or syndrome
330012 High altitude pulmonary edema101944Particular clinical situation in a disease or syndrome
90066 Pneumonia caused by Pseudomonas aeruginosa infection101944Particular clinical situation in a disease or syndrome
576074 Middle East respiratory syndrome101944, 163585Disease
449266 Pleural empyema101944Particular clinical situation in a disease or syndrome
454836 Avian influenza101944, 163585Disease
505395 Ventilator-induced diaphragmatic dysfunction101944Particular clinical situation in a disease or syndrome
217080 Pulmonary fungal infections in patients deemed at risk101944Particular clinical situation in a disease or syndrome
99981 Apnea of prematurity101944Disease
685082 Pediatric acute respiratory distress syndrome101944Disease
645814 Primary pulmonary tuberculosis101944, 3389Disease
289390 Primary Sjögren disease101944, 182228Disease
101433 Rare urogenital diseaseCategory
692256 Isolated anogenital granulomatosis101433, 180205, 79381Disease
2795 Fowler urethral sphincter dysfunction syndrome101433Disease
37202 Interstitial cystitis101433Disease
84085 Hinman syndrome101433Disease
182114 Rare urogenital tumor101433, 98057Category
98058 Rare urinary tract tumor182114Category
695023 Pure squamous carcinoma of the urothelial tract98058Disease
695020 Urachal carcinoma98058Disease
498228 Phyllodes tumor of the prostate98058Disease
598216 Upper tract urothelial carcinoma98058Disease
284400 Small cell carcinoma of the bladder100101, 98058Disease
363472 Tumor of testis and paratestis182114, 626609Category
363478 Paratesticular adenocarcinoma363472Disease
363483 Testicular teratoma363472Disease
363489 Sex cord-stromal tumor of testis363472Disease
363504 Germ cell tumor of testis363472, 363582Category
842 Testicular seminomatous germ cell tumor363504Disease
99865 Spermatocytic seminoma363504Disease
363494 Non-seminomatous germ cell tumor of testis363504Disease
685010 Mesothelioma of the tunica vaginalis363472Disease
206484 Gonadoblastoma363472, 398940Disease
398043 Malignant tumor of penis182114, 626609Category
398053 Adenocarcinoma of the penis398043Disease
398058 Squamous cell carcinoma of the penis398043Disease
140949 Low-flow priapism101433Particular clinical situation in a disease or syndrome
97962 Rare surgical thoracic diseaseCategory
97330 Thoracic outlet syndrome97962Disease
357107 Arterial thoracic outlet syndrome97330Clinical subtype
357131 Venous thoracic outlet syndrome97330Clinical subtype
180776 Non-syndromic diaphragmatic or thoracic malformation97962Category
180779 Syndromic diaphragmatic or thoracic malformation97962Category
89826 Rare skin diseaseCategory
79353 Epidermal disease89826Category
79354 Ichthyosis79353Category
454 Acquired ichthyosis79354Disease
79355 Erythrokeratoderma79353Category
79356 Acrokeratoderma79353Category
79358 Porokeratosis79353Category
79359 Other epidermal disorder79353Category
69744 Circumscribed palmoplantar hypokeratosis79359Disease
69745 Warty dyskeratoma79359Disease
231573 Congenital erosive and vesicular dermatosis79359Disease
439196 Zinc-responsive necrolytic acral erythema79359Particular clinical situation in a disease or syndrome
498359 Aquagenic palmoplantar keratoderma79359Disease
254367 Rare lichen planus79353Category
254370 Rare cutaneous lichen planus254367Category
505 Graham Little-Piccardi-Lassueur syndrome254370, 79364Disease
525 Lichen planopilaris254370, 79364Disease
33408 Bullous lichen planus254370Disease
254379 Linear lichen planus254370Disease
254395 Actinic lichen planus254370Disease
254411 Annular atrophic lichen planus254370Disease
254424 Annular lichen planus254370Disease
254449 Atrophic lichen planus254370Disease
254463 Lichen planus pigmentosus254370Disease
254478 Lichen planus pemphigoides254370Disease
254492 Frontal fibrosing alopecia254370, 79364Disease
254373 Rare mucosal lichen planus254367Category
83453 Vulvovaginal gingival syndrome180205, 254373Disease
79362 Epidermal appendage anomaly89826Category
79363 Hair anomaly79362Category
79364 Alopecia79363Category
129 Pseudopelade of Brocq79364Disease
346 Quinquaud folliculitis decalvans79364Disease
700 Alopecia totalis79364Disease
2221 Acquired hypertrichosis lanuginosa79365Disease
79368 Nail anomaly79362Category
79144 Isolated congenital onychodysplasia79369Disease
79372 Sebaceous gland anomaly79362Category
79374 Pigmentation anomaly of the skin89826Category
79375 Hyperpigmentation of the skin79374Category
39 Acromelanosis79375Disease
79376 Hypopigmentation of the skin79374Category
79377 Dermis disorder89826Category
79378 Dermis elastic tissue disorder79377Category
228218 Acquired dermis elastic tissue disorder79378Category
228221 Acquired dermis elastic tissue disorder with decreased elastic tissue228218Category
228264 Papular elastorrhexis228221Disease
228272 Primary anetoderma228221Disease
228285 Acquired cutis laxa228221Disease
228290 White fibrous papulosis of the neck228221Disease
228293 Pseudoxanthoma elasticum-like papillary dermal elastolysis228221Disease
228299 Mid-dermal elastolysis228221Disease
221142 Confetti-like macular atrophy228221Disease
228224 Acquired dermis elastic tissue disorder with increased elastic tissue228218Category
79148 Elastosis perforans serpiginosa228224Disease
228227 Late-onset focal dermal elastosis228224Disease
228236 Linear focal elastosis228224Disease
228240 Elastoderma228224Disease
228243 Elastofibroma dorsi228224Disease
228247 Acquired pseudoxanthoma elasticum228224Disease
228254 Elastoma228224Disease
79379 Skin vascular disease79377Category
529864 Secondary erythromelalgia496924, 79379Disease
280065 Calciphylaxis cutis280062, 79379Clinical subtype
280774 Generalized essential telangiectasia79379Disease
280779 Cutaneous collagenous vasculopathy79379Disease
542643 Livedoid vasculopathy496924, 79379Clinical syndrome
79380 Mixed dermis disorder79377Category
79381 Other dermis disorder79377Category
671 Primary cutis verticis gyrata79381Clinical group
357220 Primary essential cutis verticis gyrata671Disease
137807 Primary cutaneous amyloidosis79381Clinical group
49804 Lichen amyloidosis137807Disease
137810 Nodular cutaneous amyloidosis137807Disease
137814 Macular amyloidosis137807Disease
319635 Amyloidosis cutis dyschromia137807Disease
402007 Lichen myxedematosus79381Clinical group
86795 Localized lichen myxedematosus402007Clinical group
90393 Nodular lichen myxedematosus86795Disease
90394 Discrete papular lichen myxedematosus86795Disease
90395 Papular mucinosis of infancy86795Disease
90396 Acral persistent papular mucinosis86795Disease
90397 Self-healing papular mucinosis86795Disease
86797 Atypical lichen myxedematosus402007Disease
90398 Localized lichen myxedematosus with mixed features of different subtypes86797Clinical subtype
90399 Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms86797Clinical subtype
90400 Scleromyxedema without monoclonal gammopathy86797Clinical subtype
167635 Scleromyxedema402007Disease
542592 Necrobiosis lipoidica79381Disease
658810 Atrophoderma of Pasini and Pierini79381Disease
699057 Annular erythema of infancy79381Disease
90076 Partial deep dermal and full thickness burns79381Particular clinical situation in a disease or syndrome
79382 Subcutaneous tissue disease89826Category
345 Dissecting cellulitis of the scalp79382Disease
33577 Nodular non-suppurative panniculitis79382Disease
36397 Adiposis dolorosa79382Disease
90970 Primary lipodystrophy79382, 97978Category
98307 Acquired lipodystrophy90970Category
79086 Acquired generalized lipodystrophy181368, 98307Disease
79087 Acquired partial lipodystrophy98307Disease
79088 Localized lipodystrophy98307Clinical group
90156 Centrifugal lipodystrophy79088Disease
90157 Drug-induced localized lipodystrophy79088Disease
90158 Idiopathic localized lipodystrophy79088Disease
90159 Panniculitis-induced localized lipodystrophy79088Disease
90160 Pressure-induced localized lipoatrophy79088Disease
94087 Cytophagic histiocytic panniculitis79382Disease
477742 Nodular fasciitis71209, 79382Disease
79384 Rare urticaria89826, 98050Category
2483 Melkersson-Rosenthal syndrome79384Malformation syndrome
64745 Pruritic urticarial papules and plaques of pregnancy163637, 79384Disease
79386 Rare skin tumor or hamartoma89826, 98057Category
542 Primary cutaneous lymphoma279911, 79386Category
171901 Primary cutaneous T-cell lymphoma171918, 542Category
178548 Indolent primary cutaneous T-cell lymphoma171901Clinical group
541 Primary cutaneous CD30+ T-cell lymphoproliferative disease178548Clinical group
98842 Lymphomatoid papulosis541Disease
300865 Primary cutaneous anaplastic large cell lymphoma541Disease
86884 Subcutaneous panniculitis-like T-cell lymphoma178548Disease
178522 Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma178548Disease
178566 Mycosis fungoides and variants178548Clinical group
2584 Classic mycosis fungoides178566Disease
33111 Granulomatous slack skin178566Disease
178512 Folliculotropic mycosis fungoides178566Disease
178517 Localized pagetoid reticulosis178566Disease
178551 Aggressive primary cutaneous T-cell lymphoma171901Clinical group
3162 Sézary syndrome178551Disease
86875 Adult T-cell leukemia/lymphoma178551, 289635Disease
86879 Extranodal nasal NK/T cell lymphoma178551, 289644Disease
86885 Primary cutaneous peripheral T-cell lymphoma not otherwise specified178551Disease
178528 Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma178551Disease
178533 Primary cutaneous gamma/delta-positive T-cell lymphoma178551Disease
178563 Primary cutaneous B-cell lymphoma542Category
178554 Aggressive primary cutaneous B-cell lymphoma178563, 300846Clinical group
178544 Primary cutaneous diffuse large B-cell lymphoma, leg type178554Disease
178557 Indolent primary cutaneous B-cell lymphoma178563, 300842Clinical group
178536 Primary cutaneous marginal zone B-cell lymphoma178557Disease
178540 Primary cutaneous follicle center lymphoma178557Disease
492 Proliferating trichilemmal cyst79386Disease
864 Trichofolliculoma79386Disease
2800 Extramammary Paget disease79386, 98063Disease
79140 Cutaneous neuroendocrine carcinoma100101, 289635, 79386Disease
91414 Pilomatrixoma79386Disease
168999 Malignant melanoma of the mucosa79386Disease
199257 Superficial fibromatosis79386Clinical group
199251 Ledderhose disease199257Disease
199260 Calcifying aponeurotic fibroma199257Disease
199267 Infantile digital fibromatosis199257Disease
263435 Congenital smooth muscle hamartoma79386Disease
294057 Rare nevus79386Category
2611 Linear verrucous nevus syndrome294057Disease
79466 Inflammatory linear verrucous epidermal nevus2611Clinical subtype
79467 Verrucous nevus2611Clinical subtype
79468 Acanthokeratolytic verrucous nevus2611Clinical subtype
139414 Congenital panfollicular nevus294057Disease
263425 Nevus of Ota294057Disease
263432 Nevus of Ito294057Disease
370039 Angora hair nevus294057Disease
370046 Didymosis aplasticosebacea294057Disease
370052 SCALP syndrome294057Disease
370059 NEVADA syndrome294057Disease
300515 Rare nail tumor79386Category
300504 Onychocytic matricoma300515Disease
300512 Onychomatricoma300515Disease
411777 Generalized eruptive keratoacanthoma79386Disease
499182 Pilomatrix carcinoma79386Disease
569164 Angiomatoid fibrous histiocytoma79386Disease
79217 Other metabolic disease with skin involvement79387Category
79390 Rare photodermatosis89826Category
97230 Solar urticaria79390Disease
330058 Hydroa vacciniforme79390Disease
330061 Actinic prurigo79390Disease
330064 Chronic actinic dermatitis79390Disease
79391 Immune deficiency with skin involvement89826Category
90077 Other acquired skin disease89826Category
94059 Uremic pruritus90077Particular clinical situation in a disease or syndrome
1221 Cheilitis glandularis90077Disease
222 Erosive pustular dermatosis of the scalp90077Disease
499 Kerion celsi90077Disease
901 Wells syndrome90077Disease
33314 Jessner lymphocytic infiltration of the skin90077Disease
36237 Bullous impetigo300579, 90077Disease
37559 Acquired kinky hair syndrome90077Disease
48377 Subcorneal pustular dermatosis90077Disease
79099 Interstitial granulomatous dermatitis with arthritis182231, 90077Disease
97352 Pellagra90077Disease
137617 Nephrogenic systemic fibrosis90077Disease
228379 Virus-associated trichodysplasia spinulosa163585, 90077Disease
289347 Infective dermatitis associated with HTLV-1163585, 90077Disease
352763 Scleredema90077Disease
645849 Primary cutaneous tuberculosis3389, 90077Disease
664787 Nicolau syndrome90077Clinical syndrome
615943 Granuloma faciale90077Disease
617408 Classic eosinophilic pustular folliculitis90077Disease
451602 Primary cutaneous plasmacytosis284264, 90077Disease
451607 Cutaneous pseudolymphoma284264, 90077Disease
66646 Cutaneous mastocytosis90077, 98292Clinical group
79455 Cutaneous mastocytoma66646Disease
79456 Diffuse cutaneous mastocytosis66646Disease
280785 Bullous diffuse cutaneous mastocytosis79456Clinical subtype
280794 Pseudoxanthomatous diffuse cutaneous mastocytosis79456Clinical subtype
79457 Maculopapular cutaneous mastocytosis66646Disease
90389 Telangiectasia macularis eruptiva perstans79457Clinical subtype
158766 Typical urticaria pigmentosa79457Clinical subtype
158769 Plaque-form urticaria pigmentosa79457Clinical subtype
158772 Nodular urticaria pigmentosa79457Clinical subtype
90000 Erythema elevatum diutinum156149, 90077Disease
290836 Systemic disease with skin involvement89826Category
801 Scleroderma290836Clinical group
90289 Localized scleroderma801Disease
157987 Non-Langerhans cell histiocytosis182222, 290836Clinical group
158014 Rosaï-Dorfman disease157987Disease
35687 Erdheim-Chester disease157987, 324930Disease
139436 Multicentric reticulohistiocytosis157987Disease
157991 Generalized eruptive histiocytosis157987Disease
157997 Benign cephalic histiocytosis157987Disease
158000 Juvenile xanthogranuloma157987Disease
158003 Xanthoma disseminatum157987Disease
158008 Papular xanthoma157987Disease
158011 Necrobiotic xanthogranuloma157987Disease
158019 Indeterminate cell histiocytosis157987, 98289Disease
158022 Progressive nodular histiocytosis157987Disease
158025 Hereditary progressive mucinous histiocytosis157987Disease
231111 Drug-induced lupus erythematosus182222, 290836Disease
290842 Autoinflammatory syndrome with skin involvement290836Category
653434 Autoinflammatory syndrome with acne and/or hidradenitis suppurativa290842, 324927Clinical group
641385 PASS syndrome653434Disease
641390 PsAPASH syndrome653434Disease
793 SAPHO syndrome486955, 653434Disease
251304 Infantile onset panniculitis with uveitis and systemic granulomatosis290842, 324930, 324950Disease
324964 Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis290842, 324927, 324942Disease
596753 VEXAS syndrome156143, 290842, 324936Disease
293815 Toxic dermatosis89826Category
502499 Erythema multiforme major293815Disease
95455 Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum293815, 519288Disease
537 Toxic epidermal necrolysis95455Clinical subtype
36426 Stevens-Johnson syndrome95455Clinical subtype
506784 Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome95455Clinical subtype
139402 Drug reaction with eosinophilia and systemic symptoms293815Disease
293173 Acute generalized exanthematous pustulosis293815Disease
293812 Fixed drug eruption293815Disease
315350 Autoimmune disease with skin involvement89826Category
535 Rare cutaneous lupus erythematosus315350Clinical group
163525 Subacute cutaneous lupus erythematosus535Disease
163531 Chronic cutaneous lupus erythematosus535Clinical group
90281 Discoid lupus erythematosus163531Disease
90282 Hypertrophic or verrucous lupus erythematosus163531Disease
90283 Lupus erythematosus tumidus163531Disease
90285 Lupus erythematosus panniculitis163531Disease
79669 Autoimmune bullous skin disease315350Clinical group
704 Pemphigus vulgaris79669Disease
1656 Dermatitis herpetiformis79669Disease
703 Bullous pemphigoid79669Disease
46485 Superficial pemphigus79669Clinical group
636955 Endemic pemphigus foliaceus46485Disease
79480 Pemphigus erythematosus46485Disease
79481 Pemphigus foliaceus46485Disease
208524 Herpetiform pemphigus46485Disease
46487 Epidermolysis bullosa acquisita79669Disease
46488 Linear IgA dermatosis79669Disease
63275 Pemphigoid gestationis79669Disease
63455 Paraneoplastic pemphigus79669Disease
555905 IgA pemphigus79669Disease
454710 Anti-p200 pemphigoid79669Disease
79479 Pemphigus vegetans79669Disease
324636 Autoerythrocyte sensitization syndrome315350Disease
658584 Rowell syndrome182231, 315350Disease
93626 Rare renal diseaseCategory
93548 Glomerular disease506213, 93626Category
34145 Immunoglobulin A nephropathy93548Disease
567544 Idiopathic non-lupus full-house nephropathy93548Clinical syndrome
567554 Systemic disease with glomerulopathy as a major feature93548Category
567558 Non-genetic systemic disease with glomerulopathy as a major feature567554Category
439232 AApoAIV amyloidosis567558, 69Disease
567560 Systemic vasculitis associated with glomerulopathy567558Category
536 Systemic lupus erythematosus182228, 567560, 93573Disease
728 Relapsing polychondritis182228, 567560, 98641Disease
397 Giant cell arteritis156140, 567560Disease
36258 Buerger disease156143, 567560Disease
3287 Takayasu arteritis156140, 280369, 567560Disease
93126 Pauci-immune glomerulonephritis567560Disease
97563 Pauci-immune glomerulonephritis with ANCA93126Clinical subtype
97564 Pauci-immune glomerulonephritis without ANCA93126Clinical subtype
442582 AH amyloidosis567558, 69Disease
86861 Non-amyloid monoclonal immunoglobulin deposition disease567558, 98282Disease
93556 Heavy chain deposition disease86861Clinical subtype
93557 Light and heavy chain deposition disease86861Clinical subtype
93558 Light chain deposition disease86861Clinical subtype
449395 IgG4-related kidney disease567558, 596448Clinical subtype
829 Adult-onset Still disease182231, 567558Disease
567564 Nephrotic syndrome without extrarenal manifestations93548Category
357502 Idiopathic nephrotic syndrome567564Clinical group
567548 Idiopathic steroid-resistant nephrotic syndrome357502Clinical syndrome
567552 Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy567548Clinical subtype
567550 Idiopathic multidrug-resistant nephrotic syndrome567548Clinical subtype
567546 Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance357502Clinical syndrome
69061 Idiopathic steroid-sensitive nephrotic syndrome357502Clinical syndrome
84087 Collagen type III glomerulopathy93548Disease
91137 Immunotactoid or fibrillary glomerulopathy93548Clinical group
97566 Non-amyloid fibrillary glomerulopathy91137Disease
97567 Immunotactoid glomerulopathy91137Disease
97560 Primary membranous glomerulonephritis93548Disease
93573 Thrombotic microangiopathy93626Clinical group
54057 Thrombotic thrombocytopenic purpura248368, 506213, 93573Disease
93585 Immune-mediated thrombotic thrombocytopenic purpura54057Clinical subtype
544458 Hemolytic uremic syndrome506213, 93573Clinical group
544482 Infection-related hemolytic uremic syndrome182047, 544458Disease
90038 Shiga toxin-associated hemolytic uremic syndrome544482Clinical subtype
544493 Streptococcus pneumoniae-associated hemolytic uremic syndrome544482Clinical subtype
244275 De novo thrombotic microangiopathy after kidney transplantation565779, 93573Particular clinical situation in a disease or syndrome
93603 Rare renal tubular disease93626Category
91136 Acquired monoclonal Ig light chain-associated Fanconi syndrome506213, 93603Disease
91500 Tubulointerstitial nephritis and uveitis syndrome280926, 93603Disease
444916 Pseudohypoaldosteronism93603Clinical group
93164 Transient pseudohypoaldosteronism444916Disease
93618 Rare cause of hypertension93626Category
688649 Isolated adrenal medullary hyperplasia101954, 93618Disease
93619 Rare renal tumor93626, 98057Category
464359 Benign metanephric tumor93619Disease
2665 Congenital mesoblastic nephroma506213, 93619Disease
97366 Multiloculated renal cyst506213, 93619Morphological anomaly
217071 Renal cell carcinoma506213, 93619Clinical group
247203 Collecting duct carcinoma217071Disease
319276 Clear cell renal carcinoma217071Disease
319287 Multilocular cystic renal neoplasm of low malignant potential319276Histopathological subtype
404511 Clear cell papillary renal cell carcinoma319276Histopathological subtype
319298 Papillary renal cell carcinoma217071Disease
319303 Chromophobe renal cell carcinoma217071Disease
319308 MiT family translocation renal cell carcinoma217071Disease
319319 Renal medullary carcinoma217071Disease
319322 Mucinous tubular and spindle cell renal carcinoma217071Disease
319325 Tubulocystic renal cell carcinoma217071Disease
404514 Acquired cystic disease-associated renal cell carcinoma217071Disease
268316 Complication in hemodialysis93626Particular clinical situation in a disease or syndrome
664912 Neonatal renal venous thrombosis93626Disease
97966 Rare ophthalmic disorderCategory
101950 Rare eye tumor97966, 98057Category
658590 Eyelid sebaceous carcinoma101950Disease
659744 Ocular surface squamous neoplasia101950Disease
716204 Rare neoplastic choroidal disorder101950, 519309Category
716207 Rare benign neoplastic choroidal disorder716204Category
674965 Choroidal osteoma716207Disease
716210 Rare malignant neoplastic choroidal disorder716204Category
714046 Primary choroidal lymphoma716210Disease
39044 Uveal melanoma716210Disease
716198 Rare paraneoplastic choroidal disorder101950, 519309Category
674968 Bilateral diffuse uveal melanocytic proliferation disease716198Disease
790 Retinoblastoma101950Disease
357034 Non-hereditary retinoblastoma790Clinical subtype
52994 Orbital leiomyoma101950Disease
268139 Intraocular medulloepithelioma101950Disease
440727 Combined hamartoma of the retina and retinal pigment epithelium101950, 716432Disease
617910 Conjunctival malignant melanoma101950Disease
520814 Rare disorder of the visual organs97966Category
140653 Neuro-ophthalmological disease520814Category
519349 Rare ophthalmic disorder with cranial nerve involvement140653Category
519351 Rare optic nerve disorder519349Category
499047 Autoimmune/inflammatory optic neuropathy519351Clinical group
499103 Recurrent idiopathic neuroretinitis499047Disease
499107 Idiopathic optic perineuritis499047Disease
674947 Diffuse unilateral subacute neuroretinitis163588, 519351, 716410Disease
519355 Rare ocular motility/alignment disorder140653Category
519347 Rare neuromuscular disorder with ocular motility/alignment anomaly519355Category
98681 Rare disorder with strabismus519355Category
98683 Syndromic disorder with strabismus98681Category
519343 Rare ophthalmic disorder with cortical involvement140653Category
420556 Visual snow syndrome519343Disease
519341 Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature140653Category
279882 Spasmus nutans519341Clinical syndrome
519298 Rare scleral disorder520814Category
648559 Rare scleritis519298Clinical group
648681 Immune-mediated scleritis648559Disease
648675 Idiopathic scleritis648559Disease
648665 Infectious scleritis648559Disease
98715 Uveitis520814Category
279914 Intermediate uveitis98715Disease
280886 Anterior uveitis98715Category
280914 Isolated idiopathic anterior uveitis280886Disease
279922 Infectious anterior uveitis280886Disease
280926 Systemic diseases with anterior uveitis280886Category
306648 Non-infectious anterior uveitis280886Category
79098 Sympathetic ophthalmia306648Disease
209959 Phacoanaphylactic uveitis306648Disease
263479 Fuchs heterochromic iridocyclitis306648Disease
280892 Posterior uveitis98715Category
90061 Non-infectious posterior uveitis280892Category
179 Birdshot chorioretinopathy716195, 90061Disease
35686 Serpiginous choroiditis716195, 716348, 90061Disease
279928 Paraneoplastic uveitis90061Disease
280917 Idiopathic posterior uveitis90061Disease
580951 Punctate inner choroidopathy716195, 90061Disease
279919 Infectious posterior uveitis280892Disease
280930 Systemic diseases with posterior uveitis280892Category
280898 Panuveitis98715Category
279925 Infectious panuveitis280898Disease
280921 Idiopathic panuveitis280898Disease
280933 Systemic diseases with panuveitis280898Category
519311 Rare disorder of the posterior segment of the eye520814Category
519309 Rare choroidal disorder519311Category
716195 Rare inflammatory choroidal disorder519309Category
714154 Idiopathic multifocal choroiditis716195Disease
714164 Acute posterior multifocal placoid pigment epitheliopathy716195Disease
716201 Rare vascular choroidal disorder519309Category
519315 Rare retinal disorder519311Category
716290 Rare predominantly chorioretinal disorder519315Category
716293 Rare non-progressive predominantly chorioretinal disorder716290Category
716296 Rare isolated non-progressive predominantly chorioretinal disorder716293Category
674953 Multiple evanescent white dot syndrome716296Disease
715862 Melanocytoma of the optic disc and optic nerve716296Disease
716304 Rare progressive predominantly chorioretinal disorder716290Category
716348 Rare isolated progressive predominantly chorioretinal disorder716304Category
165958 Cavitary myiasis716348, 75110Disease
443079 Central serous chorioretinopathy716348Disease
716358 Rare generalized retinal disorder519315Category
716361 Rare progressive generalized retinal disorder716358Category
716410 Rare isolated progressive generalized retinal disorder716361Category
284454 Acute zonal occult outer retinopathy716410Disease
714109 Ocular siderosis716410Disease
695631 Primary vitreoretinal large B-cell lymphoma716410Disease
519317 Rare retinal vasculopathy519315Category
716450 Rare non-progressive retinal vasculopathy519317Category
648684 Central retinal artery occlusion716450Disease
411527 Central retinal vein occlusion716450Particular clinical situation in a disease or syndrome
674930 Perifoveal exudative vascular anomalous complex716450Disease
674924 Isolated retinal racemose hemangioma716450Disease
716455 Rare progressive retinal vasculopathy519317Category
716466 Rare isolated progressive retinal vasculopathy716455Category
716459 Rare disorder with progressive retinal vasculopathy as a major feature716455Category
90050 Retinopathy of prematurity716459Disease
40923 Eales disease716459Disease
519313 Rare macular disorder519315Category
716413 Rare non-progressive predominantly macular disorder519313Category
716419 Rare isolated non-progressive predominantly macular disorder716413Category
714101 Acute idiopathic maculopathy716419Disease
488239 Acute macular neuroretinopathy716419Disease
674935 Torpedo Maculopathy716419Disease
716416 Rare progressive predominantly macular disorder519313Category
716432 Rare isolated progressive predominantly macular disorder716416Category
284460 Acute annular outer retinopathy716432Disease
97341 Persistent placoid maculopathy716432Disease
279894 Toxic maculopathy due to antimalarial drugs716432Disease
715855 Acute exudative polymorphous vitelliform maculopathy716432Disease
715845 Idiopathic Acute exudative polymorphous vitelliform maculopathy715855Clinical subtype
715850 Paraneoplastic acute exudative polymorphous vitelliform maculopathy715855Clinical subtype
2737 Onchocerciasis2034, 716432Disease
714150 Stellate non-hereditary idiopathic foveomacular retinoschisis716432Disease
519329 Rare disorder involving multiple structures of the eye520814Category
199323 Endophthalmitis519329Disease
279888 Acute endophthalmitis199323Clinical subtype
279891 Chronic endophthalmitis199323Clinical subtype
449563 IgG4-related ophthalmic disease519329, 596448Clinical subtype
523000 Pediatric-onset glaucoma519329Category
519331 Secondary early-onset glaucoma523000Category
636950 Glaucomatocyclitic crisis disease519329Disease
90080 Scarring in glaucoma filtration surgical procedures519329Particular clinical situation in a disease or syndrome
519266 Rare disorder of the ocular adnexa520814Category
98602 Rare disorder of the lacrimal apparatus519266Category
519264 Inflammatory/autoimmune disorder involving the lacrimal system98602Category
79078 IgG4-related dacryoadenitis and sialadenitis519264, 596448, 98036Clinical subtype
519284 Rare disorder of the anterior segment of the eye520814Category
98610 Rare disorder with conjunctival involvement as a major feature519284Category
99922 Ocular cicatricial pemphigoid98610Disease
519280 Rare conjunctivitis98610Category
1482 Gonococcal conjunctivitis519280Disease
70476 Vernal keratoconjunctivitis519280, 98623Disease
88633 Superior limbic keratoconjunctivitis519280Disease
163934 Atopic keratoconjunctivitis519280Disease
2989 Familial pterygium of the conjunctiva98610Morphological anomaly
519282 Rare corneal disorder519284Category
171673 Limbal stem cell deficiency519282Disease
519288 Rare disorder with corneal involvement as a major feature519282Category
34533 Corneal dystrophy519288Category
98625 Superficial corneal dystrophy34533Category
98958 Climatic droplet keratopathy98625Disease
98623 Syndromic keratoconus519288Category
519290 Rare inflammatory/autoimmune corneal disorder519288Category
314017 Idiopathic linear interstitial keratitis519290Disease
1467 Cogan syndrome156140, 280369, 519290, 98036Disease
519278 Infective keratitis519290Category
137593 Infectious epithelial keratitis519278Disease
67043 Amoebic keratitis163588, 519278Disease
519930 Fungal keratitis519278Disease
137599 Herpes simplex virus stromal keratitis519278Disease
137602 Corneal endotheliitis519278Disease
137596 Neurotrophic keratopathy519278Disease
519406 Thygeson superficial punctate keratitis519290Disease
519408 Mooren ulcer519288Disease
137672 Pellucid marginal degeneration519288Disease
519410 Terrien marginal degeneration519288Disease
98639 Rare lens disease519284Category
98640 Rare disorder with lens opacification98639Category
98641 Syndromic cataract98640Category
519286 Rare disorder of the pupil519284Category
454718 Holmes-Adie syndrome519286Disease
97978 Rare endocrine diseaseCategory
877 Neuroendocrine neoplasm182130, 97978Category
100093 Carcinoid syndrome877Clinical syndrome
100092 Gastroenteropancreatic neuroendocrine neoplasm877Category
481508 Gastroenteric neuroendocrine neoplasm100092Category
100101 Neuroendocrine tumor with other location877Category
100083 Laryngeal neuroendocrine tumor100101, 98061Disease
100084 Middle ear neuroendocrine tumor100101, 98061Disease
213731 High-grade neuroendocrine carcinoma of the corpus uteri100101, 213569Disease
97289 Thymic neuroendocrine tumor100100, 100101Disease
213777 High-grade neuroendocrine carcinoma of the cervix uteri100101, 213761Disease
99869 Thymic neuroendocrine carcinoma100101, 3398Disease
263331 Well-differentiated thymic neuroendocrine carcinoma99869Histopathological subtype
263335 Moderately-differentiated thymic neuroendocrine carcinoma99869Histopathological subtype
263339 Poorly differentiated thymic neuroendocrine carcinoma99869Histopathological subtype
68415 Rare parathyroid disease and phosphocalcic metabolism anomaly97978Category
100090 Rare parathyroid tumor182130, 68415Category
143 Parathyroid carcinoma100090, 181408Disease
181405 Rare hypoparathyroidism68415Category
36913 Autoimmune hypoparathyroidism181405Disease
140286 Secondary hypoparathyroidism due to impaired parathormon secretion181405Disease
181408 Rare hyperparathyroidism68415Category
300493 Sagliker syndrome181408, 93419Particular clinical situation in a disease or syndrome
90692 Rare endocrine growth disease97978Category
178045 Transient congenital hypothyroidism442Clinical group
238696 Transient congenital hypothyroidism due to maternal factor178045Category
95715 Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies238696Disease
226313 Congenital hypothyroidism due to maternal intake of antithyroid drugs238696Disease
238699 Transient congenital hypothyroidism due to neonatal factor178045Category
238688 Neonatal iodine exposure238699Disease
95708 Rare precocious puberty90692Category
650063 Rare central precocious puberty95708Clinical group
649929 Central precocious puberty in male650063Clinical group
650087 Primary central precocious puberty in male649929Disease
650102 Non-genetic central precocious puberty in male650087Clinical subtype
650092 Secondary central precocious puberty in male649929Disease
650070 Rare central precocious puberty in female435561, 650063Clinical group
650082 Secondary central precocious puberty in female650070Disease
95710 Rare non-acquired premature ovarian failure180208, 90692Category
101952 Rare diabetes mellitus97978Category
181371 Rare diabetes mellitus type 1101952Category
227982 Autoimmune polyendocrinopathy type 3177101, 181371, 282196Disease
181376 Rare diabetes mellitus type 2101952Category
181381 Other rare diabetes mellitus101952Category
101954 Rare adrenal disease97978Category
641613 Endogenous Cushing syndrome101954Category
647758 Adrenal Cushing syndrome641613Clinical group
314749 Rare disease with adrenal Cushing syndrome as a major feature647758Category
1501 Adrenocortical carcinoma100091, 314749Disease
647768 Rare adrenocortical nodular disease with Cushing syndrome as a major feature314749Clinical group
647772 Isolated primary pigmented nodular adrenocortical disease647768, 649017Disease
647782 Isolated micronodular adrenocortical disease647768, 649017Disease
642788 Cushing syndrome due to cortisol-producing adrenocortical adenoma647758Disease
99892 ACTH-dependent Cushing syndrome399584, 399849, 641613Clinical group
96253 Cushing disease314753, 715120, 99892Disease
100091 Adrenal/paraganglial tumor101954, 182130Category
649017 Rare adrenocortical nodular disease100091Clinical group
573163 Pheochromocytoma-paraganglioma100091Clinical group
276621 Sporadic pheochromocytoma/secreting paraganglioma573163Disease
94080 Non-functioning paraganglioma573163Disease
91351 Pituitary dermoid and epidermoid cysts100091, 95503Disease
101958 Primary adrenal insufficiency101954Category
95409 Acute adrenal insufficiency101958Clinical syndrome
100067 Waterhouse-Friderichsen syndrome95409Clinical subtype
319205 Bilateral massive adrenal hemorrhage95409Etiological subtype
101959 Chronic primary adrenal insufficiency101958Category
101963 Acquired chronic primary adrenal insufficiency101959Category
85138 Addison disease101963Disease
181415 Rare primary hyperaldosteronism101954Category
231637 Rare surgically correctable form of primary aldosteronism181415Category
231580 Primary unilateral adrenal hyperplasia231637Disease
231625 Adrenocortical carcinoma with pure aldosterone hypersecretion231637Disease
231641 Rare non surgically correctable form of primary aldosteronism181415Category
231632 Ectopic aldosterone-producing tumor231641Disease
181419 Rare hypoaldosteronism101954Category
101955 Rare thyroid disease97978Category
95718 Congenital thyroid malformation without hypothyroidism101955Category
100087 Rare thyroid tumor101955, 182130Category
100088 Rare thyroid carcinoma100087Category
146 Differentiated thyroid carcinoma100088Disease
142 Anaplastic thyroid carcinoma100088Disease
1332 Medullary thyroid carcinoma100088Disease
97285 Thyroid lymphoma100087, 279911Disease
177101 Rare adult hypothyroidism181396Category
64744 IgG4-related thyroid disease177101, 596448Clinical subtype
525731 Pediatric-onset Graves disease181399Disease
101956 Polyendocrinopathy97978Category
282196 Autoimmune polyendocrinopathy101956Clinical group
227990 Autoimmune polyendocrinopathy type 4282196Disease
181384 Rare hypothalamic or pituitary disease97978Category
1672 Diencephalic syndrome181384Disease
95502 Acquired pituitary hormone deficiency101957Category
95503 Pituitary hormone deficiency of tumoral origin95502Category
91350 Pituitary deficiency due to Rathke cleft cysts95503Disease
99408 Pituitary adenoma304055, 95503Clinical group
91349 Non-functioning pituitary adenoma99408Disease
314786 Silent pituitary adenoma91349Histopathological subtype
314790 Null pituitary adenoma91349Histopathological subtype
314753 Functioning pituitary adenoma99408Clinical group
2965 Prolactinoma314753, 399572, 399831, 715120Disease
91347 TSH-secreting pituitary adenoma314753, 715120Disease
91348 Functioning gonadotropic adenoma314753, 715120Disease
96256 Somatotropic adenoma314753Clinical group
963 Acromegaly399831, 715120, 96256Disease
99725 Pituitary gigantism715120, 96256Disease
199244 Nelson syndrome314753, 715120Clinical syndrome
314759 Mixed functioning pituitary adenoma314753Category
314769 Somatomammotropinoma314759, 715120Disease
314777 Familial isolated pituitary adenoma715120, 99408Disease
95505 Pituitary hormone deficiency of meningeal origin95502Category
91354 Pituitary deficiency due to empty sella turcica syndrome95505Disease
95506 Primary hypophysitis95502Clinical group
95512 Adenohypophysitis95506Disease
95513 Panhypophysitis95506Disease
238305 Infundibulo-neurohypophysitis95506Disease
95611 Pituitary hormone deficiency of vascular origin95502Category
91355 Sheehan syndrome95611Malformation syndrome
95613 Pituitary apoplexy95502Disease
95617 Pituitary hormone deficiency secondary to a granulomatous disease95502Category
645854 Multifocal tuberculosis3389, 95617Disease
95618 Pituitary hormone deficiency secondary to storage disease95502Category
95619 Post-traumatic pituitary deficiency95502Disease
199299 Late-onset isolated ACTH deficiency95502Disease
641350 Immunotherapy induced hypophysitis95502Disease
178029 Arginine vasopressin deficiency101957Disease
95626 Acquired arginine vasopressin deficiency178029Clinical subtype
689401 Acquired hypothalamic obesity181384Disease
715120 Hyperpituitarism181384Category
443095 Hyperinsulinemic hypoglycaemia97978Category
411593 Insulin autoimmune syndrome443095Disease
97992 Rare hematologic diseaseCategory
68347 Tumor of hematopoietic and lymphoid tissues97992, 98057Category
98292 Mastocytosis68347Category
2467 Systemic mastocytosis98292Clinical group
98848 Indolent systemic mastocytosis2467Disease
98849 Systemic mastocytosis with associated hematologic neoplasm2467Disease
98850 Aggressive systemic mastocytosis2467Disease
98851 Mast cell leukemia2467Disease
566393 Acute mast cell leukemia98851Clinical subtype
566396 Chronic mast cell leukemia98851Clinical subtype
158775 Smoldering systemic mastocytosis2467Disease
158778 Isolated bone marrow mastocytosis2467Disease
66661 Mast cell sarcoma98292Disease
66662 Extracutaneous mastocytoma98292Disease
171895 Myeloid hemopathy506219, 68347Category
519 Acute myeloid leukemia171895Clinical group
86845 Acute myeloid leukaemia with myelodysplasia-related features519Disease
86846 Therapy related acute myeloid leukemia and myelodysplastic syndrome519Category
102379 Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent86846Disease
102381 Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor86846Disease
164726 Acute myeloid leukemia and myelodysplastic syndromes related to radiation521132, 86846Disease
86851 Acute leukemia of ambiguous lineage519Category
530995 Mixed phenotype acute leukemia86851Disease
589534 Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)530995Etiological subtype
589595 Mixed phenotype acute leukemia with t(v;11q23.3)530995Etiological subtype
98835 Acute undifferentiated leukemia86851Disease
98277 Acute myeloid leukemia with recurrent genetic anomaly519Category
520 Acute promyelocytic leukemia98277Disease
98829 Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)98277Disease
98831 Acute myeloid leukemia with 11q23 abnormalities98277Disease
102724 Acute myeloid leukemia with t(8;21)(q22;q22) translocation98277Disease
370026 Acute myeloid leukemia with t(8;16)(p11;p13) translocation98277Disease
402014 Acute myeloid leukemia with t(6;9)(p23;q34)98277Disease
402017 Acute myeloid leukemia with t(9;11)(p22;q23)98277Disease
402020 Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)98277Disease
402023 Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)98277Disease
402026 Acute myeloid leukemia with NPM1 somatic mutations98277Disease
585867 Acute myeloid leukemia with t(9;22)(q34.1;q11.2)98277Disease
167714 Unclassified acute myeloid leukemia519Category
318 Acute erythroid leukemia167714Disease
518 Acute megakaryoblastic leukemia167714Disease
99887 Acute megakaryoblastic leukemia in children with Down syndrome518Clinical subtype
329469 Acute megakaryoblastic leukemia in children without Down syndrome518Clinical subtype
662934 Acute megakaryoblastic leukemia in adult518Clinical subtype
86843 Acute panmyelosis with myelofibrosis167714Disease
86849 Acute basophilic leukemia167714Disease
86850 Myeloid sarcoma167714Disease
98832 Acute myeloid leukemia with minimal differentiation167714Disease
98833 Acute myeloblastic leukemia without maturation167714Disease
98834 Acute myeloblastic leukemia with maturation167714Disease
517 Acute myelomonocytic leukemia167714Disease
514 Acute monoblastic/monocytic leukemia167714Disease
52688 Myelodysplastic syndrome171895Clinical group
75564 Acquired idiopathic sideroblastic anemia1047, 52688Disease
86836 Refractory cytopenia with multilineage dysplasia52688Clinical group
98826 Myelodysplastic neoplasm with low blasts86836Disease
98827 Unclassified myelodysplastic syndrome86836Disease
86839 Myelodysplastic neoplasm with increased blasts52688Disease
100019 Myelodysplastic neoplasm with increased blasts type 186839Clinical subtype
100020 Myelodysplastic neoplasm with increased blasts type 286839Clinical subtype
86841 Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality52688Disease
168960 Refractory anemia with excess blasts in transformation52688Disease
495930 Familial monosomy 7 syndrome52688Disease
98274 Myeloproliferative neoplasm171895Clinical group
3318 Essential thrombocythemia248404, 98274Disease
521 Chronic myeloid leukemia98274Disease
824 Primary myelofibrosis164823, 98274Disease
729 Polycythemia vera98274, 98427Disease
86829 Chronic neutrophilic leukemia98274Disease
86830 Chronic myeloproliferative disease, unclassifiable98274Disease
168940 Chronic eosinophilic leukemia98274Disease
420611 Transient myeloproliferative syndrome98274Disease
98275 Myelodysplastic/myeloproliferative disease171895Clinical group
86834 Juvenile myelomonocytic leukemia98275Disease
98823 Chronic myelomonocytic leukemia98275Disease
98824 Atypical chronic myeloid leukemia98275Disease
98825 Unclassified myelodysplastic/myeloproliferative disease98275Disease
168943 Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2171895Category
168947 Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement168943Disease
168950 Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement168943Disease
168953 Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement168943Disease
589542 Myeloid/lymphoid neoplasm associated with JAK2 rearrangement168943Disease
171898 Lymphoid hemopathy506219, 68347Category
98282 Plasma cell tumor171898Category
86864 Heavy chain disease98282Disease
100024 Mu-heavy chain disease86864Clinical subtype
100025 Alpha-heavy chain disease86864Clinical subtype
100026 Gamma-heavy chain disease86864Clinical subtype
454714 Plasma cell leukemia98282Disease
98287 Histiocytic and dendritic cell tumor171898Category
98288 Macrophage or histiocytic tumor98287Category
86896 Histiocytic sarcoma98288Disease
98289 Dendritic cell tumor98287Category
86897 Langerhans cell sarcoma98289Disease
86900 Interdigitating dendritic cell sarcoma98289Disease
86903 Dendritic cell sarcoma not otherwise specified98289Disease
98290 Immunodeficiency-associated lymphoproliferative disease171898Category
70568 Post-transplant lymphoproliferative disease171918, 289644, 98290Disease
86904 Methotrexate-associated lymphoproliferative disorders98290Disease
98291 Lymphoproliferative disease associated with primary immune disease98290Category
223735 Lymphoma171898Category
547 Non-Hodgkin lymphoma223735Category
513 Acute lymphoblastic leukemia547Clinical group
99860 Precursor B-cell acute lymphoblastic leukemia513Disease
99861 Precursor T-cell acute lymphoblastic leukemia513Disease
171915 B-cell non-Hodgkin lymphoma547Category
300842 Indolent B-cell non-Hodgkin lymphoma171915Category
545 Follicular lymphoma300842Disease
58017 Classic hairy cell leukemia300842Disease
67038 B-cell chronic lymphocytic leukemia300842Disease
300878 Hairy cell leukemia variant300842Disease
300912 Marginal zone lymphoma300842Clinical group
52417 MALT lymphoma300912Disease
86854 Splenic marginal zone lymphoma300912Disease
86867 Nodal marginal zone B-cell lymphoma300912Disease
300869 Splenic diffuse red pulp small B-cell lymphoma300912Disease
443159 Lymphoplasmacytic lymphoma without IgM production300842Disease
300846 Aggressive B-cell non-Hodgkin lymphoma171915Category
543 Burkitt lymphoma289644, 300846Disease
544 Diffuse large B-cell lymphoma300846Clinical group
86869 Lymphomatoid granulomatosis289644, 544Disease
98838 Primary mediastinal large B-cell lymphoma544Disease
98839 Intravascular large B-cell lymphoma544Disease
289661 Epstein-Barr virus-positive diffuse large B-cell lymphoma289644, 544Disease
300849 Diffuse large B-cell lymphoma of the central nervous system544Disease
300857 T-cell/histiocyte rich large B cell lymphoma544Disease
300888 Diffuse large B-cell lymphoma with chronic inflammation289644, 544Disease
364043 ALK-positive large B-cell lymphoma544Disease
48686 Primary effusion lymphoma102024, 289644, 300846Disease
52416 Mantle cell lymphoma300846Disease
86852 B-cell prolymphocytic leukemia300846Disease
289666 Plasmablastic lymphoma289644, 300846Disease
480541 High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement300846Disease
171918 T-cell non-Hodgkin lymphoma547Category
86870 Blastic plasmacytoid dendritic cell neoplasm171918Disease
86871 T-cell prolymphocytic leukemia171918Disease
86882 Hepatosplenic T-cell lymphoma171918Disease
86886 Angioimmunoblastic T-cell lymphoma171918Disease
98841 Anaplastic large cell lymphoma171918Disease
300895 ALK-positive anaplastic large cell lymphoma98841Histopathological subtype
300903 ALK-negative anaplastic large cell lymphoma98841Histopathological subtype
364033 Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood171918, 289644Disease
364039 Hydroa vacciniforme-like lymphoma171918, 289644Disease
667662 Breast implant-associated anaplastic large cell lymphoma171918Disease
512034 Large granular lymphocyte leukemia171918Clinical group
86872 T-cell large granular lymphocyte leukemia178996, 512034Disease
86873 Aggressive NK-cell leukemia512034Disease
512017 Chronic lymphoproliferative disorder of natural killer cells512034Disease
652650 Nodal T-follicular helper cell lymphoma, follicular type171918Disease
98293 Hodgkin lymphoma223735, 289644Clinical group
391 Classic Hodgkin lymphoma98293Disease
98843 Classic Hodgkin lymphoma, nodular sclerosis type391Histopathological subtype
98844 Classic Hodgkin lymphoma, mixed cellularity type391Histopathological subtype
98845 Classic Hodgkin lymphoma, lymphocyte-rich type391Histopathological subtype
98846 Classic Hodgkin lymphoma, lymphocyte-depleted type391Histopathological subtype
86893 Nodular lymphocyte predominant Hodgkin lymphoma98293Disease
168966 Composite lymphoma223735Disease
279911 Primary organ-specific lymphoma223735Category
314684 Primary bone lymphoma279911Disease
319667 Primary lymphoma of the conjunctiva279911Disease
300324 Persistent polyclonal B-cell lymphocytosis171898Disease
160 Castleman disease171898Disease
93685 Unicentric Castleman disease160Clinical subtype
570438 HHV-8-associated multicentric Castleman disease102024, 160Clinical subtype
570431 Idiopathic multicentric Castleman disease160Clinical subtype
529468 Monoclonal mast cell activation syndrome68347Disease
707993 Methemoglobinemia-related cyanosis97992Category
464453 Acquired methemoglobinemia707993Disease
98427 Polycythemia97992Clinical group
238547 Acquired secondary polycythemia98428Category
90041 Gaisböck syndrome238547, 248365Disease
98429 Rare coagulation disorder97992Category
182054 Rare thrombotic disease of hematologic origin98429Category
248358 Rare thrombotic disorder due to a coagulation factors defect182054Category
248365 Rare thrombotic disorder due to an acquired coagulation factors defect248358Category
698914 Platelet-activating anti-platelet factor 4 disorder182228, 248365Clinical group
3325 Classic heparin-induced thrombocytopenia698914Disease
698945 Autoimmune heparin-induced thrombocytopenia698914Disease
699021 Spontaneous heparin-induced thrombocytopenia698914Disease
699029 Vaccine-induced immune thrombotic thrombocytopenia698914Disease
464343 Catastrophic antiphospholipid syndrome182228, 248365Disease
26349 Protein S acquired deficiency248365Disease
49566 Acquired purpura fulminans248365Disease
80 Antiphospholipid syndrome163637, 182228, 248365Disease
248368 Rare thrombotic disorder due to a platelet anomaly182054Category
248404 Rare thrombotic disorder due to an acquired platelet anomaly248368Category
248308 Rare hemorrhagic disorder98429Category
248315 Rare hemorrhagic disorder due to a coagulation factors defect248308Category
166775 Rare hemorrhagic disorder due to an acquired coagulation factor defect248315Category
26348 Acquired prothrombin deficiency166775Disease
99147 Acquired von Willebrand syndrome166775Disease
599507 Acquired factor XI deficiency166775Disease
599495 Acquired factor VII deficiency166775Disease
599501 Acquired factor X deficiency166775Disease
599480 Acquired hemophilia A166775Disease
599490 Acquired factor V deficiency166775Disease
599485 Acquired hemophilia B166775Disease
599513 Acquired factor XIII deficiency166775Disease
248326 Rare hemorrhagic disorder due to a platelet anomaly248308Category
248347 Rare hemorrhagic disorder due to an acquired platelet anomaly248326Category
457077 TAFRO syndrome182222, 248347Disease
244242 HELLP syndrome163637, 248347Disease
853 Fetal and neonatal alloimmune thrombocytopenia248347Disease
71203 Autoimmune thrombocytopenia248347Clinical group
3002 Immune thrombocytopenia71203Disease
1959 Evans syndrome71203, 98375Disease
108997 Rare anemia97992Category
1047 Sideroblastic anemia108997Category
68364 Hemoglobinopathy108997, 506219Category
98363 Rare hemolytic anemia108997Category
182047 Rare acquired hemolytic anemia98363Category
98375 Autoimmune hemolytic anemia182047Clinical group
228312 Autoimmune hemolytic anemia, cold type98375Clinical group
56425 Cold agglutinin disease228312Disease
90035 Paroxysmal cold hemoglobinuria228312Disease
90033 Autoimmune hemolytic anemia, warm type98375Disease
90036 Mixed-type autoimmune hemolytic anemia98375Disease
90037 Drug-induced autoimmune hemolytic anemia98375Disease
275938 Hemolytic disease due to fetomaternal alloimmunization182047Category
275944 Hemolytic disease of the newborn with Kell alloimmunization275938Disease
182040 Rare aplastic anemia108997, 506219Category
164823 Rare acquired aplastic anemia182040Category
88 Idiopathic aplastic anemia164823Disease
98421 Primary acquired red cell aplasia164823Clinical group
98871 Transient erythroblastopenia of childhood98421Disease
98872 Primary acquired pure red cell aplasia98421Disease
248293 Rare deficiency anemia108997Category
248302 Rare acquired deficiency anemia248293Category
450322 Polyclonal hyperviscosity syndrome97992Clinical syndrome
617294 Twin anemia-polycythemia sequence617310, 97992Disease
570470 Ricin poisoning556508, 97992Disease
98004 Rare immune diseaseCategory
39812 Graft versus host disease565779, 98004Disease
99920 Acute graft versus host disease39812Clinical subtype
99921 Chronic graft versus host disease39812Clinical subtype
95431 Twin to twin transfusion syndrome617310, 98004Disease
231205 Common variable immunodeficiency without known genetic defect696851Disease
158032 Hemophagocytic syndrome98004Category
158041 Secondary hemophagocytic lymphohistiocytosis158032Category
158048 Hemophagocytic syndrome associated with an infection158041Particular clinical situation in a disease or syndrome
158057 Acquired hemophagocytic lymphohistiocytosis associated with malignant disease158041Particular clinical situation in a disease or syndrome
158061 Macrophage activation syndrome158041, 182222, 506210Clinical syndrome
310050 Acquired immunodeficiency98004Category
90081 AIDS wasting syndrome310050Particular clinical situation in a disease or syndrome
169105 Thymoma-hypogammaglobulinemia syndrome310050Disease
178996 Acquired neutropenia310050Category
464370 Neonatal alloimmune neutropenia178996Disease
2688 Adult idiopathic neutropenia178996Disease
47612 Felty syndrome178996, 182231Disease
306431 Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies310050Disease
98023 Rare systemic or rheumatologic diseaseCategory
658 Non-histaminic angioedema98023, 98050Clinical group
91385 Acquired angioedema658Clinical group
528663 Acquired angioedema with C1Inh deficiency91385Disease
100055 Acquired angioedema type 2528663Clinical subtype
100056 Acquired angioedema type 1528663Clinical subtype
100057 Renin-angiotensin-aldosterone system-blocker-induced angioedema91385Disease
52759 Vasculitis68362, 98023Category
156140 Predominantly large-vessel vasculitis52759Clinical group
26137 Juvenile temporal arteritis156140Disease
228116 Hughes-Stovin syndrome156140Disease
156143 Predominantly medium-vessel vasculitis52759Clinical group
2331 Kawasaki disease156143, 280369Disease
156146 Predominantly small-vessel vasculitis52759Clinical group
156149 Immune complex mediated vasculitis156146Category
889 Cutaneous small vessel vasculitis156149Disease
251328 Unclassified vasculitis280369, 52759Disease
445197 Secondary vasculitis280369, 52759Category
251325 Drug-induced vasculitis445197Disease
182222 Rare systemic disease98023Category
90051 Sepsis in premature infants182222Particular clinical situation in a disease or syndrome
3099 Rheumatic fever182222Disease
69 Amyloidosis182222Category
439224 ALECT2 amyloidosis69Disease
439246 ABeta2M amyloidosis69Clinical group
85446 Wild type ABeta2M amyloidosis439246Disease
3018 Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome182222Malformation syndrome
2582 Myalgia-eosinophilia syndrome associated with tryptophan182222, 556508Malformation syndrome
3096 Reye syndrome182222Disease
764 Pyomyositis163582, 182222Disease
482 Kimura disease182222Disease
188 Systemic capillary leak syndrome182222Disease
50918 Kikuchi-Fujimoto disease182222Disease
182228 Systemic autoimmune disease182222Category
90002 Undifferentiated connective tissue syndrome182228Disease
251312 Overlapping connective tissue disease182228, 280373Clinical group
284264 IgG4-related disease182228Clinical group
449566 Eosinophilic angiocentric fibrosis284264, 98036Disease
596448 IgG4-related systemic disease284264Disease
449432 IgG4-related submandibular gland disease596448, 98036Clinical subtype
398091 Secondary neonatal autoimmune disease182228, 280373Category
398097 Neonatal antiphospholipid syndrome398091Disease
398109 Neonatal autoimmune hemolytic anemia398091Disease
398117 Neonatal dermatomyositis398091Disease
398124 Neonatal lupus erythematosus398091Disease
398127 Neonatal scleroderma398091Disease
251332 Unexplained long-lasting fever/inflammatory syndrome182222, 280373Disease
280062 Calciphylaxis182222, 496924Disease
280068 Visceral calciphylaxis280062Clinical subtype
284227 TEMPI syndrome182222Clinical syndrome
279947 Postorgasmic illness syndrome182222Clinical syndrome
542323 CAR T cell therapy-associated cytokine release syndrome182222Particular clinical situation in a disease or syndrome
598363 Multisystem inflammatory syndrome in children and adults182222, 280373Disease
182231 Rare rheumatologic disease98023Category
29207 Reactive arthritis182231, 486955Disease
93665 Autoinflammatory syndrome182231Category
101995 Periodic fever syndrome93665Category
102237 Unexplained periodic fever syndrome101995Category
37748 Schnitzler syndrome102237Malformation syndrome
42642 PFAPA syndrome102237, 324960Disease
324927 Pyogenic autoinflammatory syndrome93665Category
54251 Aseptic abscess syndrome324927Disease
324930 Granulomatous autoinflammatory syndrome93665Category
324936 Unclassified autoinflammatory syndrome93665Category
251307 Idiopathic recurrent pericarditis324936, 324953Disease
324972 MAGIC syndrome324936Disease
399158 Osteonecrosis182231, 93419Category
566943 Mueller-Weiss syndrome399158Disease
399329 Epiphysiolysis of the hip399158Disease
444316 Idiopathic phalangeal acro-osteolysis399158Disease
2764 Osteochondritis dissecans399158Disease
399164 Avascular necrosis399158Category
399169 Secondary avascular necrosis399164Category
399175 Traumatic avascular necrosis399169Disease
399180 Secondary non-traumatic avascular necrosis399169Disease
399293 Osteonecrosis of the jaw399169Disease
399302 Primary avascular necrosis399164Clinical group
399307 Idiopathic avascular necrosis399302Disease
399319 Osteochondrosis399158Category
564003 Osteochondrosis of the metatarsal bone399319Disease
97332 Kienbock disease399319Disease
97335 Osgood-Schlatter disease399319Disease
97336 Panner disease399319Disease
97337 Sinding-Larsen-Johansson disease399319Disease
57196 Medial condensing osteitis of the clavicle399319Disease
563991 Osteochondrosis of the tarsal bone399319Disease
521127 Osteoradionecrosis of the mandible399158, 521132Disease
477650 Fibroblastic rheumatism182231, 486955Disease
178311 Isolated sternocostoclavicular hyperostosis182231Disease
662255 Grisel syndrome182231Clinical syndrome
98026 Rare odontologic diseaseCategory
98027 Rare disease with odontological manifestation98026Category
164001 Rare odontal or periodontal disorder98026Category
67039 Segmental odontomaxillary dysplasia164001Disease
83450 Regional odontodysplasia164001Disease
83451 Florid cemento-osseous dysplasia164001Disease
314425 Rare odontogenic tumor290849, 98026Category
314419 Ameloblastoma314425Disease
314422 Ameloblastic carcinoma314425Disease
447777 Keratocystic odontogenic tumor314425Disease
689430 Adenoid ameloblastoma314425Disease
98028 Rare circulatory system diseaseCategory
68362 Rare vascular disease98028Category
496924 Non-inflammatory vasculopathy68362Category
675404 May-Thurner syndrome496924Disease
641829 Neonatal compartment syndrome496924Clinical syndrome
645350 Segmental arterial mediolysis496924Disease
698012 Fibromuscular dysplasia496924Disease
698036 Fibromuscular dysplasia of the cervical and intracranial arteries698012Clinical subtype
698043 Fibromuscular dysplasia of the renal arteries698012Clinical subtype
698059 Fibromuscular dysplasia of the coronary arteries698012Clinical subtype
698063 Fibromuscular dysplasia of the visceral arteries698012Clinical subtype
698069 Fibromuscular dysplasia of the arteries of the extremities698012Clinical subtype
90064 Acute peripheral arterial occlusion496924Particular clinical situation in a disease or syndrome
1682 Arterial dissection-lentiginosis syndrome496924Malformation syndrome
93419 Rare bone diseaseCategory
68411 Rare bone tumor93419, 98057Category
480553 Aneurysmal bone cyst68411Disease
55881 Adamantinoma68411Disease
58040 Osteoblastoma68411Disease
83468 Solitary bone cyst68411Disease
223727 Bone sarcoma68411Clinical group
2023 Undifferentiated pleomorphic sarcoma223727, 3394Disease
2030 Fibrosarcoma223727, 3394Disease
668 Osteosarcoma223727, 506219Disease
319 Skeletal Ewing sarcoma223727Disease
55880 Chondrosarcoma223727Disease
363976 Giant cell tumor of bone223727Disease
370348 Peripheral primitive neuroectodermal tumor223727, 3394Disease
404507 Chondromyxoid fibroma68411Disease
696078 Central giant cell granuloma290849, 68411Disease
168621 Dysplasia of head of femur, Meyer type93419Disease
645822 Primary bone and joint tuberculosis3389, 93419Disease
647823 Idiopathic pregnancy-associated osteoporosis163637, 93419Disease
98036 Rare otorhinolaryngologic diseaseCategory
68361 Rare deafness98036Category
90059 Sudden sensorineural hearing loss68361Particular clinical situation in a disease or syndrome
71276 Silent sinus syndrome98036Disease
98061 Rare otorhinolaryngologic tumor290849, 98036Category
667678 Intraoral basal cell carcinoma98061Disease
141077 Epignathus883, 98061Clinical subtype
141107 Nasopharyngeal teratoma883, 98061Clinical subtype
141115 Nasal ganglioglioma98061Disease
67037 Squamous cell carcinoma of head and neck98061Category
494547 Squamous cell carcinoma of the hypopharynx67037Disease
494550 Squamous cell carcinoma of the larynx67037Disease
500464 Squamous cell carcinoma of the nasal cavity and paranasal sinuses67037Disease
500478 Squamous cell carcinoma of the oropharynx67037Disease
502369 Squamous cell carcinoma of oral cavity and lip67037Category
502363 Squamous cell carcinoma of the oral cavity502369Disease
502366 Squamous cell carcinoma of the lip502369Disease
289596 Juvenile nasopharyngeal angiofibroma98061Disease
171684 Idiopathic bilateral vestibulopathy98036Disease
210272 Mal de débarquement98036Clinical syndrome
420402 Semicircular canal dehiscence syndrome98036Clinical syndrome
652681 Idiopathic subglottic stenosis98036Disease
98047 Rare infertilityCategory
98048 Rare male infertility98047Category
98343 Male infertility due to obstructive azoospermia98048Category
399824 Rare disorder with obstructive azoospermia98343Category
645874 Primary genito-urinary tuberculosis3389, 399824Disease
399572 Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder98048Category
399584 Rare male infertility due to adrenal disorder399572Category
98049 Rare female infertility98047Category
399831 Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder98049Category
399849 Rare female infertility due to an adrenal disorder399831Category
399853 Rare female infertility due to an anomaly of ovarian function399831Category
399882 Rare female infertility due to an implantation defect98049Category
250908 Rare neoplastic diseaseCategory
98057 Rare tumor250908Category
3399 Germ cell tumor506219, 98057Category
363579 Extragonadal germ cell tumor3399Category
99913 Extragonadal non-dysgerminomatous germ cell tumor363579Category
876 Yolk sac tumor99913Disease
883 Extragonadal teratoma99913Disease
494421 Sacrococcygeal teratoma883Clinical subtype
99926 Gestational choriocarcinoma59305, 99913Disease
180226 Embryonal carcinoma99913Disease
289362 Non-central nervous system-localized embryonal carcinoma180226Clinical subtype
180229 Polyembryoma99913Disease
180234 Mixed germ cell tumor99913Disease
314613 Growing teratoma syndrome99913Particular clinical situation in a disease or syndrome
182127 Extragonadal germinoma363579Disease
363582 Gonadal germ cell tumor3399Category
35807 Malignant germ cell tumor of ovary363582, 398940Category
99912 Ovarian dysgerminoma35807Disease
206538 Malignant non-dysgerminomatous germ cell tumor of ovary35807Disease
289356 Primary non-gestational choriocarcinoma of ovary35807Disease
71209 Rare soft tissue tumor98057Category
289685 Myopericytoma289656, 71209Disease
66627 Tenosynovial giant cell tumor71209Disease
3394 Soft tissue sarcoma71209Clinical group
2126 Solitary fibrous tumor3394Disease
3273 Synovial sarcoma3394Disease
64720 Leiomyosarcoma289656, 3394Disease
69077 Rhabdoid tumor3394Disease
69078 Liposarcoma3394Disease
99967 Myxoid/round cell liposarcoma69078Histopathological subtype
99969 Pleomorphic liposarcoma69078Histopathological subtype
99970 Dedifferentiated liposarcoma69078Histopathological subtype
99971 Well-differentiated liposarcoma69078Histopathological subtype
163699 Alveolar soft tissue sarcoma3394Disease
209916 Extraskeletal myxoid chondrosarcoma3394Disease
293202 Epithelioid sarcoma3394Disease
370334 Extraskeletal Ewing sarcoma3394, 506219Disease
86902 Follicular dendritic cell sarcoma289656, 3394Disease
873 Desmoid tumor71209Disease
97338 Melanoma of soft tissue71209Disease
157826 Congenital epulis71209Disease
178342 Inflammatory myofibroblastic tumor71209Disease
247762 Lipoblastoma71209Disease
391651 Glomus tumor71209Disease
595133 Perivascular epithelioid cell neoplasm71209Disease
98059 Rare digestive tumor98057Category
98063 Rare gynecological tumor96344, 98057Category
180312 Rare vulvovaginal tumor98063Category
137583 Vulvar intraepithelial neoplasia180312Disease
180247 Vaginal carcinoma180312Disease
206489 Malignant germ cell tumor of the vagina180312Disease
206492 Vulvovaginal rhabdomyosarcoma180312Disease
494418 Vulvar carcinoma180312Disease
494448 Vulvar squamous cell carcinoma494418Histopathological subtype
494451 Vulvar basal cell carcinoma494418Histopathological subtype
494454 Vulvar adenocarcinoma494418Histopathological subtype
213564 Rare uterine cancer98063Category
213569 Rare cancer of corpus uteri213564Category
213589 Malignant mixed epithelial and mesenchymal tumor of corpus uteri213569Clinical group
213600 Adenosarcoma of the corpus uteri213589Disease
213605 Carcinofibroma of the corpus uteri213589Disease
213610 Carcinosarcoma of the corpus uteri213589Disease
213620 Sarcoma of the corpus uteri213569Clinical group
213615 Rhabdomyosarcoma of the corpus uteri213620Disease
213625 Leiomyosarcoma of the corpus uteri213620Disease
213630 Primitive neuroectodermal tumor of the corpus uteri213620Disease
213711 Endometrial stromal sarcoma213569Disease
213716 Squamous cell carcinoma of the corpus uteri213569Disease
213721 Undifferentiated carcinoma of the corpus uteri213569Disease
213726 Serous carcinoma of the corpus uteri213569Disease
213736 Low-grade neuroendocrine tumor of the corpus uteri213569Disease
213746 Transitional cell carcinoma of the corpus uteri213569Disease
213751 Malignant germ cell tumor of the corpus uteri213569Disease
213761 Rare cancer of cervix uteri213564Category
213767 Squamous cell carcinoma of the cervix uteri213761Disease
213772 Adenocarcinoma of the cervix uteri213761Disease
213782 Malignant mixed epithelial and mesenchymal tumor of cervix uteri213761Clinical group
213787 Carcinosarcoma of the cervix uteri213782Disease
213792 Adenosarcoma of the cervix uteri213782Disease
213797 Sarcoma of cervix uteri213761Clinical group
213802 Rhabdomyosarcoma of the cervix uteri213797Disease
213807 Leiomyosarcoma of the cervix uteri213797Disease
213812 Primitive neuroectodermal tumor of the cervix uteri213797Disease
213823 Adenoid cystic carcinoma of the cervix uteri213761Disease
213828 Adenoid basal carcinoma of the cervix uteri213761Disease
213833 Glassy cell carcinoma of the cervix uteri213761Disease
213837 Malignant germ cell tumor of the cervix uteri213761Disease
254685 Gestational trophoblastic disease98063Category
59305 Gestational trophoblastic neoplasm254685Clinical group
99925 Invasive mole59305Disease
99928 Placental site trophoblastic tumor59305Disease
254698 Epithelioid trophoblastic tumor59305Disease
99927 Hydatidiform mole254685Disease
254688 Complete hydatidiform mole99927Clinical subtype
254693 Partial hydatidiform mole99927Clinical subtype
180220 Rare uterine adnexal tumor98063Category
97293 Rare benign ovarian tumor180220Category
569248 Microcystic stromal tumor97293Disease
206470 Cystadenoma of childhood97293Disease
563676 Seromucinous cystadenoma of childhood206470Histopathological subtype
563671 Mucinous cystadenoma of childhood206470Histopathological subtype
563666 Serous cystadenoma of childhood206470Histopathological subtype
314451 Meigs syndrome97293Clinical syndrome
314459 Pseudo-Meigs syndrome97293Clinical syndrome
314466 Atypical Meigs syndrome97293Clinical syndrome
314473 Ovarian fibroma97293Disease
314478 Ovarian fibrothecoma97293Disease
180237 Benign tumor of fallopian tubes180220Disease
180242 Malignant tumor of fallopian tubes180220Disease
213500 Rare ovarian cancer180220Category
398934 Malignant epithelial tumor of ovary213500Category
213504 Adenocarcinoma of ovary398934Disease
213512 Malignant mixed Müllerian tumor of the ovary398934Disease
398961 Mucinous adenocarcinoma of ovary398934Disease
398971 Clear cell adenocarcinoma of the ovary398934Disease
454723 Endometrioid carcinoma of ovary398934Disease
398940 Malignant non-epithelial tumor of ovary213500Category
370396 Small cell carcinoma of the ovary398940Disease
35808 Malignant sex cord stromal tumor of ovary398940Category
99914 Gynandroblastoma35808Disease
99915 Malignant granulosa cell tumor of the ovary35808Disease
99916 Malignant Sertoli-Leydig cell tumor of the ovary35808Disease
99917 Theca steroid-producing cell malignant tumor of ovary, not further specified35808Disease
398987 Malignant teratoma of ovary398940Disease
696830 Female adnexal tumor of probable Wolffian origin180220Disease
180250 Rare breast tumor98063Category
180253 Rare benign breast tumor180250Category
180261 Phyllodes tumor of the breast180253, 180257Disease
180267 Giant adenofibroma of the breast180253Disease
180257 Rare malignant breast tumor180250Category
180275 Paget disease of the nipple180257Disease
213528 Rare adenocarcinoma of the breast180257Disease
213531 Metaplastic carcinoma of the breast180257Disease
213557 Salivary gland type cancer of the breast180257Disease
694963 Inflammatory breast cancer180257Disease
100100 Thymic tumor98057Category
3398 Thymic epithelial neoplasm100100Category
99867 Thymoma3398Disease
263310 Thymoma type A99867Histopathological subtype
263317 Thymoma type B99867Histopathological subtype
263324 Thymoma type AB99867Histopathological subtype
99868 Thymic carcinoma3398Disease
182130 Tumor of endocrine glands98057Category
304055 Pituitary tumor182130Category
300385 Pituitary carcinoma304055Disease
289635 Rare virus associated tumor98057Category
102024 Human herpesvirus 8-related disorder289635Category
289638 Epstein-Barr Virus-related tumor289635Category
289644 Epstein-Barr virus-associated malignant lymphoproliferative disorder289638Category
289651 Epstein-Barr Virus-associated carcinoma289638Category
289682 Lymphoepithelial-like carcinoma289651Disease
289656 Epstein-Barr Virus-associated mesenchymal tumor289638Category
443291 HIV-associated cancer289635Particular clinical situation in a disease or syndrome
290849 Rare head and neck tumor98057Category
443167 NUT midline carcinoma98057Disease
626609 Rare andrological tumor98057Category
631251 Cancer of unknown primary site98057Disease
68416 Rare infectious diseaseCategory
163582 Rare bacterial infectious disease68416Category
1304 Brucellosis163582Disease
173 Cholera163582Disease
795 Rare form of salmonellosis163582Category
99745 Typhoid795Disease
324648 Invasive non-typhoidal salmonellosis795Disease
443227 Paratyphoid fever795Disease
509 Leptospirosis163582Disease
810 Shigellosis163582Disease
533 Listeriosis163582Disease
1489 Whooping cough163582Disease
1679 Diphtheria163582Disease
3389 Tuberculosis163582Clinical group
645807 Primary tuberculous lymphadenitis3389Disease
2700 Noma163582Disease
2583 Mycetoma163582, 163591Disease
3392 Tularemia163582Disease
781 Q fever163582Disease
31202 Melioidosis163582Disease
31204 Nocardiosis163582Disease
31205 Rat-bite fever163582Disease
99903 Spirillary rat-bite fever31205Etiological subtype
99905 Streptobacillary rat-bite fever31205Etiological subtype
36234 Bacterial toxic-shock syndrome163582Disease
99918 Streptococcal toxic-shock syndrome36234Etiological subtype
99919 Staphylococcal toxic-shock syndrome300579, 36234Etiological subtype
50839 Cat-scratch disease163582Disease
64692 Bartonella bacilliformis infection163582Disease
659759 Verruga peruana64692Clinical subtype
659756 Oroya fever64692Clinical subtype
64694 Trench fever163582Disease
83317 Scrub typhus163582Disease
91547 Relapsing fever163582Disease
102021 Rickettsial disease163582Category
1902 Ehrlichiosis102021Disease
102022 Spotted fever rickettsiosis102021Category
83311 Rocky Mountain spotted fever102022Disease
83312 Rickettsialpox102022Disease
83313 Boutonneuse fever102022Disease
83316 Pseudotyphus of California102022Disease
101334 African tick typhus102022Disease
102023 Typhus-group rickettsiosis102021Category
83314 Epidemic typhus102023Disease
99990 Brill-Zinsser disease83314Clinical subtype
99991 Relapsing epidemic typhus83314Clinical subtype
83315 Murine typhus102023Disease
137839 Lemierre syndrome163582Disease
247257 Inhalational anthrax163582Disease
300579 Staphylococcal toxemia163582Category
36235 Staphylococcal scarlet fever300579Disease
36236 Staphylococcal scalded skin syndrome300579Disease
440368 Necrotizing soft tissue infection163582Disease
699678 Necrotizing cellulitis440368Clinical subtype
699697 Necrotizing fasciitis440368Clinical subtype
699702 Necrotizing myositis440368Clinical subtype
90078 Invasive infections due to vancomycin-resistant enterococci163582Particular clinical situation in a disease or syndrome
457095 Actinomycosis163582Disease
600832 Legionella infection163582Clinical group
99748 Pontiac fever600832Disease
549 Legionnaires disease600832Disease
659712 Rare yersiniosis163582Category
707 Plague659712Disease
659707 Yersinia pseudotuberculosis infection659712Disease
660053 Psittacosis163582Disease
659908 Glanders163582Disease
688995 Scarlet fever163582Disease
163585 Rare viral disease68416Category
341 Viral hemorrhagic fever163585Category
340 Hemorrhagic fever-renal syndrome341Disease
99824 Lassa fever341Disease
99826 Marburg hemorrhagic fever341Disease
99827 Crimean-Congo hemorrhagic fever341Disease
319213 Lujo hemorrhagic fever341Disease
319218 Ebola hemorrhagic fever341Disease
319223 Argentine hemorrhagic fever341Disease
319229 Bolivian hemorrhagic fever341Disease
319234 Venezuelan hemorrhagic fever341Disease
319239 Brazilian hemorrhagic fever341Disease
319244 Chapare hemorrhagic fever341Disease
319247 Hantavirus pulmonary syndrome341Disease
319251 Rift valley fever341Disease
319254 Kyasanur forest disease341Disease
319266 Omsk hemorrhagic fever341Disease
99828 Dengue fever341Disease
99829 Yellow fever341Disease
2566 Chronic Epstein-Barr virus infection syndrome163585Disease
35062 Severe disseminated cytomegalovirus infection in immunocompetent patients163585Disease
438279 Human infection by orthopoxvirus163585Disease
91127 Adenovirus infection in immunocompromised patients163585Particular clinical situation in a disease or syndrome
137698 Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk163585Particular clinical situation in a disease or syndrome
448237 Zika virus disease163585Disease
163588 Rare parasitic disease68416Category
1223 Balantidiasis163588Disease
697096 Cryptosporidiosis163588Disease
673 Malaria163588Disease
1247 Schistosomiasis163588Disease
284 Alveolar echinococcosis163588Disease
3386 American trypanosomiasis163588Disease
507 Leishmaniasis163588Disease
1070 Anisakiasis163588Disease
2552 Microsporidiosis163588Disease
1560 Cysticercosis163588Disease
3385 African trypanosomiasis163588Disease
67 Amoebiasis due to Entamoeba histolytica163588Disease
1685 Distomatosis163588Clinical group
658909 Fasciolopsiasis1685Disease
658913 Paragonimiasis1685Disease
658917 Clonorchiasis1685Disease
2034 Filariasis163588Category
231 Dracunculiasis2034Disease
2035 Lymphatic filariasis2034Disease
2404 Loiasis2034Disease
2459 Mansonelliasis2034Disease
166291 Dirofilariasis2034Disease
3343 Toxocariasis163588Disease
68 Amoebiasis due to free-living amoebae163588Disease
74 Angiostrongyliasis163588Disease
76 Strongyloidiasis163588Disease
78 Ankylostomiasis163588Disease
108 Babesiosis163588Disease
128 Diphyllobothriasis163588Disease
210 Cyclosporiasis163588Disease
283 Demodicidosis163588Disease
400 Cystic echinococcosis163588Disease
401 Hymenolepiasis163588Disease
472 Isosporiasis163588Disease
879 Tungiasis163588Disease
54368 Sarcocystosis163588Disease
75110 Myiasis163588Category
99983 Cutaneous myiasis75110Category
504 Creeping myiasis99983Disease
591 Furuncular myiasis99983Disease
563690 Furuncular myiasis due to Cordylobia rodhaini591Clinical subtype
563687 Furuncular myiasis due to Cordylobia anthropophaga591Clinical subtype
563684 Furuncular myiasis due to Dermatobia hominis591Clinical subtype
165955 Wound myiasis99983Disease
423717 Cutaneous larva migrans163588Disease
163591 Rare mycosis68416Category
1163 Aspergillosis163591Disease
182 Chromomycosis163591Disease
390 Histoplasmosis163591Disease
723 Pneumocystosis163591Disease
826 Sporotrichosis163591Disease
73260 Paracoccidioidomycosis163591Disease
73263 Zygomycosis163591Disease
228119 Fusariosis163591Disease
397587 Deep dermatophytosis163591Disease
1546 Cryptococcosis163591Disease
228123 Coccidioidomycosis163591Disease
449280 Scedosporiosis163591Disease
697053 Talaromycosis163591Disease
636945 Invasive candidiasis163591Disease
633124 Invasive scopulariopsis infection163591, 565779Disease
697091 Emergomycosis163591Disease
108999 Rare disorder due to toxic effectsCategory
521132 Radiation-induced disorder108999Category
454831 Acute radiation syndrome521132Particular clinical situation in a disease or syndrome
306640 Rare intoxication due to medical products108999Category
565782 Methotrexate toxicity306640Disease
529831 Letrozole toxicity306640Particular clinical situation in a disease or syndrome
31824 Colchicine poisoning306640Particular clinical situation in a disease or syndrome
31828 Digitalis poisoning306640Particular clinical situation in a disease or syndrome
43117 Acute tricyclic antidepressant poisoning306640Particular clinical situation in a disease or syndrome
43119 Acute poisoning by drugs with membrane-stabilizing effect306640Particular clinical situation in a disease or syndrome
217064 5-fluorouracil poisoning306640Particular clinical situation in a disease or syndrome
293807 Ketamine-induced biliary dilatation306640Disease
466670 Cyanide poisoning306640Particular clinical situation in a disease or syndrome
464458 Paracetamol poisoning306640Particular clinical situation in a disease or syndrome
556508 Rare disorder due to poisoning108999Category
31825 Methanol poisoning556508Disease
31826 Ethylene glycol poisoning556508Disease
31827 Paraquat poisoning556508Disease
35889 Acute opioid intoxication556508Disease
60014 Argyria556508Disease
73423 Acute ackee fruit intoxication556508Disease
90068 Cocaine intoxication556508Disease
90069 Systemic monochloroacetate poisoning556508Disease
227972 Toxic oil syndrome556508Disease
247165 Infantile mercury poisoning556508Disease
330015 Lead poisoning556508Disease
330021 Mercury poisoning556508Disease
449285 Snakebite envenomation556508Disease
466677 Scorpion envenomation556508Disease
96344 Rare gynecologic or obstetric diseaseCategory
163637 Rare disorder related with pregnancy, childbirth and puerperium96344Category
617307 Rare disorder related to monochorionic twin pregnancy163637Category
617310 Rare disorder due to unbalanced inter-twin blood transfusion617307Category
617297 Twin-reversed arterial perfusion sequence617310Disease
617313 Rare disorder due to inadequate sharing of the placenta617307Category
617301 Selective intrauterine growth restriction617313Disease
617304 Amniotic fluid embolism163637Disease
662721 Placenta accreta spectrum disorder163637Disease
662786 Vasa previa163637Disease
615970 Chronic intervillositis of unknown etiology163637Disease
275555 Preeclampsia163637Disease
289385 Malignancy diagnosed during pregnancy163637Particular clinical situation in a disease or syndrome
439167 Placental insufficiency163637Clinical syndrome
180062 Uterovaginal malformation96344Category
180148 Syndromic uterovaginal malformation180062Category
180163 Rare breast malformation96344Category
180170 Excess breast volume or number180163Category
2456 Familial supernumerary nipples180170Morphological anomaly
180176 Familial juvenile hypertrophy of the breast180170Morphological anomaly
180182 Supernumerary breasts180170Morphological anomaly
180173 Deficient breast volume or number180163Category
180193 Syndromic breast hypoplasia/aplasia180173Category
180199 Rare non-malformative gynecologic or obstetric disease96344Category
137820 Extrapelvic endometriosis180199Disease
180202 Rare non-malformative breast disease180199Category
64722 Granulomatous mastitis180202Disease
653698 Lymphocytic mastitis180202Disease
180205 Rare non-malformative uterovaginal or vulvovaginal disease180199Category
137686 Asherman syndrome180205Disease
180303 Rare non-malformative uterine adnexal disease180199Category
180208 Anomaly of puberty or/and menstrual cycle96344Category
435561 Rare precocious puberty in female180208Category
650187 Rare peripheral precocious puberty in female435561Clinical group
498251 Menstrual cycle-dependent periodic fever180208Disease
325620 Difference of sex development of gynecological interest96344Category
68329 Rare maxillo-facial surgical diseaseCategory
210581 Temporomandibular joint anomaly68329Category
210576 Congenital temporomandibular joint ankylosis210581Disease
477781 Primary condylar hyperplasia210581Disease
357154 Oral submucous fibrosis68329Disease
98050 Rare allergic diseaseCategory
98052 Rare allergic respiratory disease98050Category
280342 Rare systemic or rheumatological disease of childhoodCategory
280369 Rare pediatric vasculitis280342Category
280373 Rare pediatric systemic disease280342Category
486955 Rare pediatric rheumatologic disease280342Category
319719 Autoinflammatory syndrome of childhood486955Category
324939 Periodic fever syndrome of childhood319719Category
324960 Unexplained periodic fever syndrome of childhood324939Category
324942 Pyogenic autoinflammatory syndrome of childhood319719Category
324950 Granulomatous autoinflammatory syndrome of childhood319719Category
324953 Unclassified autoinflammatory syndrome of childhood319719Category
481671 Type 1 interferonopathy of childhood319719Category
565779 Rare disorder potentially indicated for transplant or complication after transplantationCategory
90053 Complications after hematopoietic stem cell transplantation565779Particular clinical situation in a disease or syndrome
306644 Complication after organ transplantation565779Particular clinical situation in a disease or syndrome
506207 Rare disorder potentially indicated for transplant565779Category
506225 Rare disorder potentially indicated for heart transplant506207Category
506210 Rare disorder potentially indicated for liver transplant506207Category
506213 Rare disorder potentially indicated for kidney transplant506207Category
506216 Rare disorder potentially indicated for bowel transplant506207Category
506219 Rare disorder potentially indicated for hematopoietic stem cell transplant506207Category
506222 Rare disorder potentially indicated for lung transplant506207Category
618137 Functional head of classification for rare disorder without a determined diagnosis after full investigationCategory
616874 Rare disorder without a determined diagnosis after full investigation618137Disease
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CC BY 4.0.", "hierarchyMeaning" : "is-a", "content" : "complete", "count" : 9907, "property" : [{ "code" : "parent", "uri" : "http://hl7.org/fhir/concept-properties#parent", "description" : "Parent concept in the classification hierarchy", "type" : "code" }, { "code" : "disorderType", "uri" : "https://www.orpha.net/ORDO/Orphanet_C019", "description" : "Type of Orphanet disorder (Disease, Clinical group, Category, Etiological subtype, Clinical subtype, Malformation syndrome, etc.)", "type" : "string" }], "concept" : [{ "code" : "97929", "display" : "Rare cardiac disease", "property" : [{ "code" : "disorderType", "valueString" : "Category" }] }, { "code" : "167848", "display" : "Rare cardiomyopathy", "property" : [{ "code" : "parent", "valueCode" : "97929" }, { "code" : "disorderType", "valueString" : "Category" }] }, { "code" : "247", "display" : "Inherited arrhythmogenic cardiomyopathy", "property" : [{ "code" : "parent", "valueCode" : "167848" }, { "code" : "parent", "valueCode" : "506225" }, { "code" : "parent", "valueCode" : "98054" }, { "code" : "disorderType", "valueString" : "Clinical group" }] }, { "code" : "34217", "display" : "Naxos disease", "property" : [{ "code" : "parent", "valueCode" : "247" }, { "code" : "parent", "valueCode" : "307804" }, { "code" : "parent", "valueCode" : "434809" }, { "code" : "disorderType", "valueString" : "Disease" }] }, { "code" : "217656", "display" : "Inherited isolated arrhythmogenic cardiomyopathy", "property" : [{ "code" : "parent", "valueCode" : "247" }, { "code" : "parent", "valueCode" : "300755" }, { "code" : "disorderType", "valueString" : "Disease" }] }, { "code" : "293888", "display" : "Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant", "property" : [{ "code" : "parent", "valueCode" : "217656" }, { "code" : "disorderType", "valueString" : "Clinical subtype" }] }, { "code" : "293899", "display" : "Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant", "property" : [{ "code" : "parent", "valueCode" : "217656" }, { "code" : "disorderType", "valueString" : "Clinical subtype" }] }, { "code" : "293910", "display" : "Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant", "property" : [{ "code" : "parent", "valueCode" : "217656" }, { "code" : "disorderType", "valueString" : "Clinical subtype" }] }, { "code" : "217569", "display" : "Rare hypertrophic cardiomyopathy", "property" : [{ "code" : "parent", "valueCode" : "167848" }, { "code" : "parent", "valueCode" : "506225" }, { "code" : "disorderType", "valueString" : "Category" }] }, { "code" : "99739", "display" : "Rare familial disorder with hypertrophic cardiomyopathy", "property" : [{ "code" : "parent", "valueCode" : "217569" }, { "code" : "parent", "valueCode" : "98054" }, { "code" : "disorderType", "valueString" : "Category" }] }, { "code" : "217572", "display" : "Glycogen storage disease with hypertrophic cardiomyopathy", "property" : [{ "code" : "parent", "valueCode" : "99739" }, { "code" : "disorderType", "valueString" : "Category" }] }, { "code" : "439854", "display" : "Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease", "property" : [{ "code" : "parent", "valueCode" : "217572" }, { "code" : "parent", "valueCode" : "79201" }, { "code" : "disorderType", "valueString" : "Disease" }] }, { "code" : "365", "display" : "Glycogen storage disease due to acid maltase deficiency", "property" : [{ "code" : "parent", "valueCode" : "206959" }, { "code" : "parent", "valueCode" : "217572" }, { "code" : "parent", "valueCode" : "217581" }, { "code" : "parent", "valueCode" : "217638" }, { "code" : "parent", "valueCode" : "309337" }, { "code" : "parent", "valueCode" : "79201" }, { "code" : "disorderType", "valueString" : "Disease" }] }, { "code" : "308552", "display" : "Glycogen storage disease due to acid maltase deficiency, infantile onset", "property" : [{ "code" : "parent", "valueCode" : "365" }, { "code" : "disorderType", "valueString" : "Clinical subtype" }] }, { "code" : "420429", "display" : "Glycogen storage disease due to acid maltase deficiency, late-onset", "property" : [{ "code" : "parent", "valueCode" : "365" }, { "code" : "disorderType", "valueString" : "Clinical subtype" }] }, { "code" : "366", "display" : "Glycogen storage disease due to glycogen debranching enzyme deficiency", "property" : [{ "code" : "parent", "valueCode" : "101940" }, { "code" : "parent", "valueCode" : "206959" }, { "code" : "parent", "valueCode" : "217572" }, { "code" : "parent", "valueCode" : "79201" }, { "code" : "disorderType", "valueString" : "Disease" }] }, { "code" : "34587", "display" : "Danon disease", "property" : [{ "code" : "parent", "valueCode" : "206959" }, { "code" : "parent", "valueCode" : "217572" }, { "code" : "parent", "valueCode" : "217607" }, { "code" : "parent", "valueCode" : "309337" }, { "code" : "parent", "valueCode" : "611314" }, { "code" : "parent", "valueCode" : "79201" }, { "code" : "disorderType", 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