Narrativa gerada: CodeSystem orphanet-rare-disease-classification

Propriedades

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

Nome	Código	URI	Tipo	Descrição
Parent	parent	http://hl7.org/fhir/concept-properties#parent	code	Parent concept in the classification hierarchy
disorderType	disorderType	https://www.orpha.net/ORDO/Orphanet_C019	string	Type of Orphanet disorder (Disease, Clinical group, Category, Etiological subtype, Clinical subtype, Malformation syndrome, etc.)

Conceitos

Este sistema de código https://www.orpha.net/ORDO/Orphanet_ define o seguinte códigos numa hierarquia Is-A:

Código	Ecrã	Parent	disorderType
97929	Rare cardiac disease		Category
167848	Rare cardiomyopathy	97929	Category
247	Inherited arrhythmogenic cardiomyopathy	167848, 506225, 98054	Clinical group
34217	Naxos disease	247, 307804, 434809	Disease
217656	Inherited isolated arrhythmogenic cardiomyopathy	247, 300755	Disease
293888	Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant	217656	Clinical subtype
293899	Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant	217656	Clinical subtype
293910	Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant	217656	Clinical subtype
217569	Rare hypertrophic cardiomyopathy	167848, 506225	Category
99739	Rare familial disorder with hypertrophic cardiomyopathy	217569, 98054	Category
217572	Glycogen storage disease with hypertrophic cardiomyopathy	99739	Category
439854	Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease	217572, 79201	Disease
365	Glycogen storage disease due to acid maltase deficiency	206959, 217572, 217581, 217638, 309337, 79201	Disease
308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	365	Clinical subtype
420429	Glycogen storage disease due to acid maltase deficiency, late-onset	365	Clinical subtype
366	Glycogen storage disease due to glycogen debranching enzyme deficiency	101940, 206959, 217572, 79201	Disease
34587	Danon disease	206959, 217572, 217607, 309337, 611314, 79201	Disease
137625	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	217572, 308520	Disease
217581	Lysosomal disease with hypertrophic cardiomyopathy	99739	Category
118	Beta-mannosidosis	207018, 217581, 611314, 79215, 93448	Disease
349	Fucosidosis	217581, 611314, 79215, 93448	Disease
324	Fabry disease	139009, 183478, 207018, 217581, 217638, 371442, 506213, 568047, 79225, 79379, 93593, 98644	Disease
580	Mucopolysaccharidosis type 2	217581, 611314, 68385, 79213, 79388, 93448, 98578	Disease
217085	Mucopolysaccharidosis type 2, severe form	580	Clinical subtype
217093	Mucopolysaccharidosis type 2, attenuated form	580	Clinical subtype
93473	Hurler syndrome	102283, 217581, 217638, 579, 611327	Clinical subtype
93476	Hurler-Scheie syndrome	217581, 579	Clinical subtype
217587	Mitochondrial disease with hypertrophic cardiomyopathy	99739	Category
550	MELAS	206966, 217587, 217613, 225700, 225703, 254776, 519343, 522508, 611314, 68385, 90642	Disease
551	MERRF	206966, 217587, 217613, 225700, 225703, 254776, 441434, 68385, 98261	Disease
1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	217587, 254776	Malformation syndrome
1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	217587, 254830, 352312, 522520, 522548, 98641, 98683	Disease
99718	Leber plus disease	217587, 217613, 254776, 98671	Disease
314637	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	217587, 35696	Disease
319678	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	217587, 35656	Disease
324525	Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation	183592, 217587, 254776, 93593, 93603	Disease
352563	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	217587, 35696	Disease
369913	Combined oxidative phosphorylation defect type 17	217587, 35696	Disease
444013	Combined oxidative phosphorylation defect type 23	217587, 35696, 611314, 68385	Disease
496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	207018, 217587, 254837, 441434, 611314	Disease
457185	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	217587, 35656	Disease
570491	QRSL1-related combined oxidative phosphorylation defect	217587, 35696	Disease
656279	1p36.33 duplication syndrome	217587, 254837, 264431, 68385	Disease
217591	Fatty acid oxidation and ketogenesis disorder with hypertrophic cardiomyopathy	99739	Category
746	Mitochondrial trifunctional protein deficiency	206966, 207018, 217591, 309115	Disease
159	Carnitine-acylcarnitine translocase deficiency	217591, 309130, 611314	Disease
5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	181402, 207018, 217591, 309127, 716405	Disease
26791	Multiple acyl-CoA dehydrogenase deficiency	206953, 217591, 309120	Disease
394529	Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	26791	Clinical subtype
394532	Multiple acyl-CoA dehydrogenase deficiency, mild type	26791	Clinical subtype
26793	Very long chain acyl-CoA dehydrogenase deficiency	206953, 217591, 309120	Disease
99901	Acyl-CoA dehydrogenase 9 deficiency	217591, 217616, 254843	Disease
217595	Syndrome associated with hypertrophic cardiomyopathy	99739	Category
95	Friedreich ataxia	207028, 217595, 519341, 522506, 68385, 98098	Disease
273	Steinert myotonic dystrophy	206647, 217595, 519347, 522522, 98033, 98578, 98648	Disease
589824	Childhood-onset Steinert myotonic dystrophy	273, 611314	Clinical subtype
589827	Juvenile-onset Steinert myotonic dystrophy	273, 611314	Clinical subtype
589830	Adult-onset Steinert myotonic dystrophy	273, 611314	Clinical subtype
589833	Late-onset Steinert myotonic dystrophy	273	Clinical subtype
589821	Congenital-onset Steinert myotonic dystrophy	273, 611314	Clinical subtype
116	Beckwith-Wiedemann syndrome	156207, 156237, 183422, 217595, 319328, 641343, 93460, 93547	Malformation syndrome
96076	Beckwith-Wiedemann syndrome due to 11p15 microduplication	116, 262785	Etiological subtype
96193	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11	116, 98154	Etiological subtype
231117	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15	116	Etiological subtype
231120	Beckwith-Wiedemann syndrome due to CDKN1C mutation	116	Etiological subtype
231127	Beckwith-Wiedemann syndrome due to 11p15 microdeletion	116, 261947	Etiological subtype
231130	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion	116, 263708	Etiological subtype
91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome	217595, 254830	Disease
228012	Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	101934, 217595, 90642	Disease
399058	Alpha-B crystallin-related late-onset myopathy	206650, 217595, 98910	Disease
98909	Desminopathy	206650, 206662, 209041, 217595, 217610, 217635, 593	Disease
3071	Costello syndrome	102283, 139027, 183422, 217595, 228215, 477771, 611327, 98733	Malformation syndrome
2701	Noonan syndrome-like disorder with loose anagen hair	102283, 217595, 481771, 611327, 79364, 98576, 98733	Malformation syndrome
648	Noonan syndrome	102283, 139393, 181441, 183422, 217595, 477771, 568047, 611327, 619340, 93547, 98576, 98578, 98733	Malformation syndrome
500	Noonan syndrome with multiple lentigines	102285, 139027, 183422, 183466, 217595, 330206, 619340, 79375, 90642, 98196, 98733	Malformation syndrome
363972	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia	183422, 217595, 477771, 98733	Malformation syndrome
1340	Cardiofaciocutaneous syndrome	102283, 217595, 568047, 611327, 79373, 98733	Malformation syndrome
693647	Agammaglobulinemia-early-onset hypertrophic cardiomyopathy-neutropenia syndrome	217595, 229720, 331184	Disease
217598	Non-familial hypertrophic cardiomyopathy	217569	Category
1926	Diabetic embryopathy	138059, 217598, 251535, 93460	Malformation syndrome
85443	AL amyloidosis	209013, 217598, 217720, 506210, 567558, 69, 98282	Disease
314701	Primary systemic amyloidosis	85443	Clinical subtype
314709	Primary localized amyloidosis	85443	Clinical subtype
217604	Dilated cardiomyopathy	167848	Category
217607	Familial dilated cardiomyopathy	217604, 98054	Category
2119	HEC syndrome	217607, 217635, 217720, 324767	Malformation syndrome
367	Glycogen storage disease due to glycogen branching enzyme deficiency	101940, 206959, 217607, 506210, 506225, 79201	Disease
206583	Adult polyglucosan body disease	207018, 367	Clinical subtype
308621	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form	367	Clinical subtype
308638	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form	367	Clinical subtype
308655	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form	367	Clinical subtype
308670	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form	367	Clinical subtype
308684	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form	367	Clinical subtype
308698	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form	367	Clinical subtype
308712	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form	367	Clinical subtype
154	Familial isolated dilated cardiomyopathy	207085, 217607, 506225	Disease
217610	Neuromuscular disease with dilated cardiomyopathy	217607, 506225	Category
262	Duchenne and Becker muscular dystrophy	206644, 217610	Clinical group
98895	Becker muscular dystrophy	207085, 262	Disease
98896	Duchenne muscular dystrophy	207085, 262, 519347, 522522, 611314	Disease
206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers	207085, 262	Disease
261	Emery-Dreifuss muscular dystrophy	206644, 217610, 611314	Disease
98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	261, 300755	Etiological subtype
98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	261, 300755	Etiological subtype
98863	X-linked Emery-Dreifuss muscular dystrophy	209188, 261	Etiological subtype
62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	102015, 207060, 217610	Disease
119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	102015, 207063, 217610	Disease
353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	102015, 207067, 217610	Disease
219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6	102015, 207070, 217610	Disease
206554	Fukutin-related limb-girdle muscular dystrophy R13	102015, 207122, 217610, 309469, 371047, 371176	Disease
289377	Early-onset myopathy with fatal cardiomyopathy	206656, 209053, 217610	Disease
397937	Polyglucosan body myopathy type 1	206959, 217610, 68385, 79201	Disease
217613	Mitochondrial disease with dilated cardiomyopathy	217607, 506225	Category
480	Kearns-Sayre syndrome	181402, 206966, 217613, 225700, 225703, 254767, 519347, 522522, 68385, 716405, 90642	Disease
111	Barth syndrome	206966, 217613, 289902, 331184, 352312	Disease
137675	Histiocytoid cardiomyopathy	101934, 217613, 254837	Disease
217616	Fatty acid oxidation and ketogenesis disorder with dilated cardiomyopathy	217607, 506225	Category
158	Systemic primary carnitine deficiency	206953, 217616, 309130	Disease
217619	Syndrome associated with dilated cardiomyopathy	217607, 506225	Category
64	Alström syndrome	156162, 156165, 181376, 183592, 183625, 217619, 240371, 506213, 522548, 611314, 716405, 90642, 93603, 98641	Disease
1345	Cardiomyopathy-cataract-hip spine disease syndrome	217619, 522548, 98641	Disease
1493	Vici syndrome	102283, 102285, 183469, 199639, 217619, 269523, 269567, 269573, 330206, 331217, 522548, 611327, 79376, 98641	Malformation syndrome
1606	1p36 deletion syndrome	166469, 217619, 261857	Malformation syndrome
2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	181441, 217619, 300755	Malformation syndrome
2515	Microcephaly-cardiomyopathy syndrome	102283, 217619, 269528, 611327	Malformation syndrome
59306	McLeod neuroacanthocytosis syndrome	217619, 225713, 263440, 68385, 98366	Disease
65282	Carvajal syndrome	217619, 434809, 79373, 98027, 98357	Disease
66634	Dilated cardiomyopathy with ataxia	217619, 289902, 611314	Disease
73224	Kidney tubulopathy-dilated cardiomyopathy syndrome	183592, 217619, 93603	Disease
79159	Isobutyryl-CoA dehydrogenase deficiency	217619, 79163	Disease
168796	Heart-hand syndrome, Slovenian type	101934, 217619, 228184, 300755	Malformation syndrome
217622	Sensorineural deafness with dilated cardiomyopathy	217619	Disease
476096	Erythrokeratodermia-cardiomyopathy syndrome	183438, 217619, 77830, 79355, 98027	Disease
2663	Nathalie syndrome	217619, 522548, 90642, 98641	Malformation syndrome
300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	217607, 300755, 506225	Disease
371176	Congenital disorder of glycosylation with dilated cardiomyopathy	217607, 506225	Category
91131	DK1-CDG	281244, 309526, 371176, 371200	Disease
263494	DPM3-CDG	309526, 370953, 371047, 371176, 611314	Disease
319646	PGM1-CDG	309347, 371157, 371176, 79201	Disease
217629	Non-familial dilated cardiomyopathy	217604	Category
2022	Endocardial fibroelastosis	217629, 217720, 506225	Disease
563	Peripartum cardiomyopathy	163637, 217629, 506225	Disease
324767	Non-familial rare disease with dilated cardiomyopathy	217629, 506225	Category
183	Eosinophilic granulomatosis with polyangiitis	156152, 209007, 324767, 567560	Disease
217632	Restrictive cardiomyopathy	167848	Category
217635	Familial restrictive cardiomyopathy	217632, 98054	Category
1344	Isolated atrial standstill	101934, 217635	Disease
758	Pseudoxanthoma elasticum	139027, 139030, 156629, 183503, 217635, 228215, 506213, 71281, 716427	Disease
75249	Familial isolated restrictive cardiomyopathy	217635, 506225	Disease
271861	Hereditary ATTR amyloidosis	217635, 444116, 506210, 69, 716446	Disease
85451	ATTRV122I amyloidosis	271861, 506225	Clinical subtype
85447	ATTRV30M amyloidosis	207021, 271861	Clinical subtype
217638	Lysosomal disease with restrictive cardiomyopathy	217635, 506225	Category
77259	Gaucher disease type 1	217638, 264968, 355, 399185, 716405, 98544	Clinical subtype
217720	Non-familial restrictive cardiomyopathy	217632	Category
797	Sarcoidosis	166484, 182222, 209007, 217720, 264745, 280373, 280926, 280930, 280933, 324930, 567558, 95617	Disease
75565	Tropical endomyocardial fibrosis	217720	Disease
75566	Loeffler endocarditis	217720	Disease
85445	AA amyloidosis	209013, 217720, 567558, 69	Disease
90291	Systemic sclerosis	101944, 182228, 217720, 280373, 567558, 801	Disease
220393	Diffuse cutaneous systemic sclerosis	90291	Clinical subtype
220402	Limited cutaneous systemic sclerosis	90291	Clinical subtype
220407	Limited systemic sclerosis	90291	Clinical subtype
168956	Hypereosinophilic syndrome	217720, 98274	Clinical group
314962	Secondary hypereosinophilic syndrome	168956	Disease
314970	Lymphocytic hypereosinophilic syndrome	314962	Clinical subtype
3260	Idiopathic hypereosinophilic syndrome	168956	Disease
314950	Primary hypereosinophilic syndrome	168956	Disease
570762	Infective endocarditis	163582, 163591, 217720	Disease
330001	Wild type ATTR amyloidosis	217720, 506210, 69	Disease
217678	Unclassified cardiomyopathy	167848	Category
692305	Triglyceride deposit cardiomyovasculopathy	165, 217678, 506225	Disease
692296	Idiopathic triglyceride deposit cardiomyovasculopathy	692305	Etiological subtype
565612	Primary triglyceride deposit cardiomyovasculopathy	692305	Etiological subtype
3403	Uhl anomaly	217678	Morphological anomaly
54260	Left ventricular noncompaction	217678, 300755, 477805	Disease
66529	Tako-Tsubo cardiomyopathy	217678	Disease
478049	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	217678, 2443, 522548, 68385, 98054, 98641	Disease
329874	Idiopathic giant cell myocarditis	167848	Disease
168194	Rare cardiac tumor	97929, 98057	Category
1359	Carney complex	100091, 100094, 168194, 183466, 271841, 314749, 79375	Disease
615	Familial atrial myxoma	168194, 271841	Disease
874	Primary adult heart tumor	168194	Disease
875	Primary pediatric heart tumor	168194	Disease
319340	Carney complex-trismus-pseudocamptodactyly syndrome	168194, 183466, 228184, 271841, 79375	Disease
685004	Primary pericardial mesothelioma	168194	Disease
218436	Rare cardiac rhythm disease	97929	Category
101934	Genetic cardiac rhythm disease	218436, 98054	Category
768	Congenital long QT syndrome	101934	Clinical group
65283	Timothy syndrome	180772, 611314, 768	Malformation syndrome
595098	Timothy syndrome type 1	65283	Clinical subtype
595105	Timothy syndrome type 2	65283	Clinical subtype
595109	Atypical Timothy syndrome	65283	Clinical subtype
90647	Jervell and Lange-Nielsen syndrome	768, 90642	Disease
101016	Romano-Ward syndrome	768	Disease
871	Hereditary progressive cardiac conduction defect	101934	Disease
392	Holt-Oram syndrome	101934, 102285, 156532, 228184, 294955, 330206, 404574	Malformation syndrome
1342	Heart-hand syndrome type 3	101934, 102285, 228184, 330206	Malformation syndrome
1350	Heart-hand syndrome type 2	101934, 102285, 228184, 330206	Malformation syndrome
2946	Brachydactyly-long thumb syndrome	101934, 228184, 498454	Malformation syndrome
1479	Atrial septal defect-atrioventricular conduction defects syndrome	101934, 156532	Malformation syndrome
3283	His bundle tachycardia	101934	Disease
3286	Catecholaminergic polymorphic ventricular tachycardia	101934	Disease
130	Brugada syndrome	101934	Disease
334	Hereditary atrial fibrillation	101934	Disease
37553	Andersen-Tawil syndrome	101934, 206976, 371433, 98741	Disease
51083	Congenital short QT syndrome	101934	Disease
51084	Torsade-de-pointes syndrome with short coupling interval	101934	Disease
60041	Congenital heart block	101934	Disease
166282	Hereditary sick sinus syndrome	101934	Disease
228140	Idiopathic ventricular fibrillation	101934	Disease
324321	Sinoatrial node dysfunction and deafness	101934, 90642	Disease
324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	101934, 611314	Disease
435988	Chronic atrial and intestinal dysrhythmia syndrome	101934, 117569, 165655	Disease
436242	Hereditary atrial tachyarrhythmia-infra-Hisian cardiac conduction disease	101934	Disease
480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	101934, 182070, 183500, 225713, 611314	Disease
542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	101934, 611314	Disease
476084	BVES-related limb-girdle muscular dystrophy	101934, 102015	Disease
218439	Non-genetic cardiac rhythm disease	218436	Category
3282	Multifocal atrial tachycardia	218439	Disease
45452	Idiopathic neonatal atrial flutter	218439	Disease
45453	Incessant infant ventricular tachycardia	218439	Disease
363618	LMNA-related cardiocutaneous progeria syndrome	300766, 79389, 97929, 98054	Disease
97292	Cardiogenic shock	97929	Particular clinical situation in a disease or syndrome
458718	Idiopathic spontaneous coronary artery dissection	97929	Disease
263352	Postcardiotomy right ventricular failure	97929	Particular clinical situation in a disease or syndrome
93890	Rare developmental defect during embryogenesis		Category
1041	Hydrops fetalis	93890	Malformation syndrome
363999	Non-immune hydrops fetalis	1041, 183530	Clinical subtype
364013	Immune hydrops fetalis	1041	Clinical subtype
93545	Renal or urinary tract malformation	93626, 93890	Category
93546	Non-syndromic renal or urinary tract malformation	506213, 93545	Category
1851	Multicystic dysplastic kidney	357506, 93546	Morphological anomaly
97363	Unilateral multicystic dysplastic kidney	1851	Clinical subtype
97364	Bilateral multicystic dysplastic kidney	1851	Clinical subtype
322	Exstrophy-epispadias complex	108977, 182124, 357506, 93546	Malformation syndrome
93928	Isolated epispadias	322	Clinical subtype
93929	Cloacal exstrophy	117573, 322	Clinical subtype
93930	Classic bladder exstrophy	322	Clinical subtype
3033	Renal tubular dysgenesis	93546	Malformation syndrome
97367	Renal tubular dysgenesis due to twin-twin transfusion	3033	Etiological subtype
97368	Drug-related renal tubular dysgenesis	3033	Etiological subtype
97369	Renal tubular dysgenesis of genetic origin	3033, 357506	Etiological subtype
1309	Medullary sponge kidney	357506, 93546	Morphological anomaly
2260	Oligomeganephronia	93546	Morphological anomaly
237	Duplication of urethra	182124, 357506, 93546	Morphological anomaly
617	Congenital primary megaureter	182124, 357506, 93546	Morphological anomaly
238642	Primary megaureter, adult-onset form	617	Clinical subtype
238646	Congenital primary megaureter, obstructed form	617	Clinical subtype
238650	Congenital primary megaureter, refluxing form	617	Clinical subtype
238654	Congenital primary megaureter, nonrefluxing and unobstructed form	617	Clinical subtype
544578	Congenital primary megaureter, refluxing and obstructed form	617	Clinical subtype
93101	Renal hypoplasia	357506, 93546	Morphological anomaly
97361	Renal hypoplasia, unilateral	93101	Clinical subtype
97362	Renal hypoplasia, bilateral	93101	Clinical subtype
93108	Renal dysplasia	357506, 93546	Morphological anomaly
93172	Renal dysplasia, unilateral	93108	Clinical subtype
93173	Renal dysplasia, bilateral	93108	Clinical subtype
93109	Congenital megacalycosis	93546	Morphological anomaly
93176	Unilateral congenital megacalycosis	93109	Clinical subtype
93177	Congenital bilateral megacalycosis	93109	Clinical subtype
238637	Megacystis-megaureter syndrome	93546	Disease
411709	Renal agenesis	357506, 93546	Morphological anomaly
1848	Renal agenesis, bilateral	411709	Clinical subtype
93100	Renal agenesis, unilateral	411709	Clinical subtype
435365	Fetal lower urinary tract obstruction	182124, 357506, 93546	Clinical group
2970	Prune belly syndrome	435365	Malformation syndrome
105	Atresia of urethra	435365	Morphological anomaly
93110	Posterior urethral valve	435365	Morphological anomaly
435372	Anterior urethral valve	435365	Morphological anomaly
435743	Congenital urachal anomaly	182124, 93546	Category
488	Urachal cyst	435743	Morphological anomaly
431341	Patent urachus	435743	Morphological anomaly
431344	Urachal sinus	435743	Morphological anomaly
431347	Urachal diverticulum	435743	Morphological anomaly
289365	Familial vesicoureteral reflux	156622, 182124, 93546	Malformation syndrome
652528	Supernumerary kidney	93546	Morphological anomaly
93547	Syndromic renal or urinary tract malformation	183539, 506213, 93545	Category
881	Turner syndrome	165707, 263717, 325546, 325638, 399877, 477771, 485382, 568047, 93547, 95710, 98574, 98642	Malformation syndrome
99226	Monosomy X syndrome	881	Etiological subtype
99228	Mosaic monosomy X syndrome	881	Etiological subtype
99413	Turner syndrome due to structural X chromosome anomalies	881	Etiological subtype
138	CHARGE syndrome	102283, 156237, 156532, 165707, 181387, 331220, 399846, 611327, 90642, 93547, 98655	Malformation syndrome
567	22q11.2 deletion syndrome	102283, 117573, 138047, 139036, 156532, 181402, 262182, 331220, 611327, 90642, 93547, 98033	Malformation syndrome
783	Rubinstein-Taybi syndrome	102283, 139021, 183422, 183570, 240371, 252190, 498454, 611327, 93547, 98638, 98655	Malformation syndrome
353277	Rubinstein-Taybi syndrome due to CREBBP mutations	783	Etiological subtype
353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	261956, 783	Etiological subtype
353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	783	Etiological subtype
893	WAGR syndrome	102283, 183422, 240371, 261947, 319328, 325638, 522548, 611327, 93547, 98087, 98557, 98638, 98641	Malformation syndrome
107	BOR syndrome	102285, 139036, 156202, 156237, 183576, 330206, 90642, 93547	Malformation syndrome
195	Cat-eye syndrome	117573, 263708, 519276, 93547	Malformation syndrome
52	Alagille syndrome	101941, 102285, 108973, 156532, 156607, 183422, 330206, 506210, 519276, 93547	Malformation syndrome
261600	Alagille syndrome due to 20p12 microdeletion	261992, 52	Etiological subtype
261619	Alagille syndrome due to a JAG1 point mutation	52	Etiological subtype
261629	Alagille syndrome due to a NOTCH2 point mutation	52	Etiological subtype
564	Meckel syndrome	108973, 139039, 156162, 156165, 269531, 269564, 294959, 459787, 471383, 522548, 93547, 93587, 98641, 98655	Malformation syndrome
289	Ellis Van Creveld syndrome	1505, 156162, 156165, 156532, 79373, 93547, 93587	Malformation syndrome
3378	Trisomy 13 syndrome	108979, 117573, 93547, 98131, 98642	Malformation syndrome
3380	Trisomy 18 syndrome	108979, 117573, 93547, 98131, 98642	Malformation syndrome
887	VACTERL/VATER association	102285, 108961, 117573, 93547	Malformation syndrome
373	Simpson-Golabi-Behmel syndrome	102283, 108979, 156207, 156237, 180779, 183422, 611327, 93460, 93547	Malformation syndrome
3027	Caudal regression syndrome	268843, 444941, 645202, 93547	Malformation syndrome
2052	Fraser syndrome	102283, 102285, 117573, 330206, 611327, 90642, 93547, 98562	Malformation syndrome
955	Hajdu-Cheney syndrome	182231, 486955, 93449, 93547	Malformation syndrome
971	Acrorenal syndrome	102285, 330206, 93547	Malformation syndrome
1064	Aniridia-renal agenesis-psychomotor retardation syndrome	102283, 522520, 611327, 93547, 98557, 98638, 98683	Malformation syndrome
1133	AREDYLD syndrome	181381, 183625, 79373, 93547	Malformation syndrome
1834	Axial mesodermal dysplasia spectrum	117573, 93547	Malformation syndrome
1896	EEC syndrome	156237, 498477, 519288, 522558, 93547, 98609	Malformation syndrome
1973	Faciocardiorenal syndrome	102283, 611327, 93547	Malformation syndrome
2186	Hydrocephalus-blue sclerae-nephropathy syndrome	519296, 93547	Malformation syndrome
2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	181402, 261938, 90642, 93547	Malformation syndrome
2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	104009, 93547	Malformation syndrome
2256	Fibulo-ulnar hypoplasia-renal anomalies syndrome	102285, 330206, 93547	Malformation syndrome
672	Pallister-Hall syndrome	102283, 117573, 156162, 294959, 611327, 93547, 95495	Malformation syndrome
2278	Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome	102283, 281244, 522548, 611327, 93547, 98641	Malformation syndrome
2669	Nephrosis-deafness-urinary tract-digital malformations syndrome	102285, 165707, 330206, 90642, 93547	Malformation syndrome
1475	Renal coloboma syndrome	519345, 93547	Malformation syndrome
2673	Neurofaciodigitorenal syndrome	102283, 611327, 93547	Malformation syndrome
2697	Arthrogryposis-renal dysfunction-cholestasis syndrome	101941, 1037, 156607, 281241, 309816, 93547	Malformation syndrome
2704	Urofacial syndrome	93547	Malformation syndrome
2750	Orofaciodigital syndrome type 1	102283, 140997, 183460, 611327, 79372, 79373, 90642, 93547	Malformation syndrome
2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	93449, 93547	Malformation syndrome
2820	Spastic paraplegia-nephritis-deafness syndrome	100979, 90642, 93547	Clinical syndrome
3109	Mayer-Rokitansky-Küster-Hauser syndrome	180068, 399882, 400025, 93547	Malformation syndrome
2578	Mayer-Rokitansky-Küster-Hauser syndrome type 2	117573, 3109	Clinical subtype
247775	Mayer-Rokitansky-Küster-Hauser syndrome type 1	3109	Clinical subtype
798	Schinzel-Giedion syndrome	102283, 183422, 611327, 93547	Malformation syndrome
3186	Holoprosencephaly-radial heart renal anomalies syndrome	102283, 611327, 93547	Malformation syndrome
3316	Thomas syndrome	102285, 139039, 156532, 330206, 93547	Malformation syndrome
3326	Thymic-renal-anal-lung dysplasia	102285, 330206, 93547	Malformation syndrome
3327	Thyrocerebrorenal syndrome	93547	Malformation syndrome
3404	Ulbright-Hodes syndrome	102283, 611327, 93547	Malformation syndrome
1192	Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome	90642, 93547	Malformation syndrome
3411	Double uterus-hemivagina-renal agenesis syndrome	165707, 180148, 93547	Malformation syndrome
818	Smith-Lemli-Opitz syndrome	102283, 139021, 183570, 294959, 325511, 611327, 79195, 93547, 98574, 98578, 98650	Malformation syndrome
93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	181376, 183625, 34149, 93547	Clinical subtype
217266	BNAR syndrome	102285, 117573, 156246, 330206, 435606, 93547	Malformation syndrome
439897	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	1037, 156162, 165707, 269523, 269528, 269567, 93547	Malformation syndrome
444069	Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome	156162, 269531, 269564, 459787, 471383, 93547	Malformation syndrome
2111	Cystic hamartoma of lung and kidney	93547, 93619	Disease
3015	Radio-renal syndrome	294955, 404574, 93547	Malformation syndrome
500135	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	156162, 165707, 269531, 269564, 459787, 471383, 93547	Malformation syndrome
71273	Renal nutcracker syndrome	165711, 93547	Disease
2838	Renal caliceal diverticuli-deafness syndrome	90642, 93547	Malformation syndrome
1756	Caudal duplication	117573, 269531, 93547	Malformation syndrome
500095	Tall stature-intellectual disability-renal anomalies syndrome	102283, 611327, 93547	Malformation syndrome
508488	8q24.3 microdeletion syndrome	102283, 139021, 156532, 183570, 262065, 611327, 93547	Malformation syndrome
592574	Menke-Hennekam syndrome	102283, 139021, 183570, 611327, 93547	Malformation syndrome
521438	Congenital vertebral-cardiac-renal anomalies syndrome	102285, 156532, 330206, 90642, 93547	Malformation syndrome
3032	NPHP3-related Meckel-like syndrome	101939, 156180, 156604, 269546, 269570, 93547	Malformation syndrome
597743	SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome	102283, 156532, 165707, 269528, 611327, 93547	Malformation syndrome
656130	PBX1-related congenital anomalies of kidney-urinary tract syndrome	102283, 611327, 90642, 93547	Disease
689822	Structural heart defects-renal anomalies syndrome	102285, 156532, 330206, 93547	Malformation syndrome
97965	Rare surgical cardiac disease	93890	Category
88991	Rare congenital non-syndromic heart malformation	97965	Category
474347	Rare congenital anomaly of ventricular septum	88991	Clinical group
99094	Laubry-Pezzi syndrome	474347	Morphological anomaly
99092	Interventricular septum aneurysm	474347	Morphological anomaly
99095	Congenital Gerbode defect	88991	Morphological anomaly
2846	Congenital pericardium anomaly	88991	Category
99129	Congenital complete agenesis of pericardium	2846	Morphological anomaly
99130	Congenital partial agenesis of pericardium	2846	Morphological anomaly
99131	Pleuro-pericardial cyst	2846	Morphological anomaly
1081	Coronary artery congenital malformation	88991	Category
2041	Coronary arterial fistula	1081	Morphological anomaly
95491	Congenital coronary artery aneurysm	1081	Morphological anomaly
541478	Anomalous aortic origin of coronary artery	1081	Clinical group
541443	Anomalous aortic origin of the left coronary artery	541478	Morphological anomaly
541454	Anomalous aortic origin of the right coronary artery	541478	Morphological anomaly
541507	Anomalous origin of coronary artery from the pulmonary artery	1081	Morphological anomaly
542822	Anomaly of the coronary ostia	1081	Clinical group
99087	Coronary ostial stenosis or atresia	542822	Morphological anomaly
99089	Abnormal number of coronary ostia	542822	Morphological anomaly
99090	Malposition of a coronary ostium	542822	Morphological anomaly
1686	Cardiac diverticulum	88991	Morphological anomaly
1461	Criss-cross heart	88991	Morphological anomaly
95483	Univentricular cardiopathy	88991	Category
2248	Hypoplastic left heart syndrome	95483	Morphological anomaly
1464	Univentricular heart	95483	Morphological anomaly
98723	Hypoplastic right heart syndrome	95483	Clinical group
1208	Pulmonary atresia-intact ventricular septum syndrome	98719, 98723	Morphological anomaly
439	Isolated right ventricular hypoplasia	98723	Morphological anomaly
98716	Heart position anomaly	88991	Category
450	Visceral heterotaxy	98716	Category
1666	Dextrocardia	450	Morphological anomaly
95854	Levocardia	450	Morphological anomaly
97548	Right isomerism	108973, 271853, 450	Malformation syndrome
101063	Situs inversus totalis	108971, 271853, 450	Morphological anomaly
157769	Situs ambiguus	108971, 271853, 450	Morphological anomaly
566862	Left isomerism	271853, 450	Malformation syndrome
95443	Mesocardia	98716	Morphological anomaly
98717	Transposition of the great arteries and conotruncal cardiac anomaly	88991	Category
2445	Conotruncal heart malformations	98717	Category
3303	Tetralogy of Fallot	2445	Malformation syndrome
3384	Common arterial trunk	2445, 477805	Morphological anomaly
665058	Common arterial trunk with pulmonary dominance and interrupted aortic arch	3384	Clinical subtype
665044	Common arterial trunk with aortic dominance	3384	Clinical subtype
982	Pulmonary valve agenesis	2445, 98719	Clinical group
99048	Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome	982	Malformation syndrome
101206	Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome	982	Malformation syndrome
1138	Abnormal origin of the pulmonary artery	2445	Clinical group
658574	Isolated pulmonary artery sling	1138	Morphological anomaly
99049	Pulmonary artery coming from patent ductus arteriosus	1138	Morphological anomaly
99050	Abnormal origin of right or left pulmonary artery from the aorta	1138, 182111	Morphological anomaly
1207	Pulmonary atresia with ventricular septal defect	2445	Morphological anomaly
2037	Congenital aortopulmonary window	2445	Morphological anomaly
3426	Double outlet right ventricle	2445, 271853	Morphological anomaly
99043	Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis	3426	Clinical subtype
99045	Double outlet right ventricle with subpulmonary ventricular septal defect	3426	Clinical subtype
99046	Double outlet right ventricle with non-committed subpulmonary ventricular septal defect	3426	Clinical subtype
423693	Double outlet right ventricle with subaortic or doubly committed ventricular septal defect	3426	Clinical subtype
423712	Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy	3426	Clinical subtype
3427	Double outlet left ventricle	2445	Morphological anomaly
98718	Aortic malformation	98717, 98724	Category
3193	Supravalvular aortic stenosis	271853, 98718	Morphological anomaly
1457	Coarctation of aorta	98718	Morphological anomaly
2299	Aortic arch interruption	98718	Morphological anomaly
3092	Fixed subaortic stenosis	98718	Morphological anomaly
99051	Discrete fixed membranous subaortic stenosis	3092	Clinical subtype
99052	Discrete fibromuscular subaortic stenosis	3092	Clinical subtype
99053	Tunnel subaortic stenosis	3092	Clinical subtype
3093	Congenital aortic valve stenosis	98718, 98725	Morphological anomaly
95448	Congenital aortic valve atresia	3093	Clinical subtype
101043	Congenital aortic valve dysplasia	3093	Clinical subtype
402075	Familial bicuspid aortic valve	271853, 285014, 98718	Morphological anomaly
1456	Middle aortic syndrome	98718	Morphological anomaly
542568	Quadricuspid aortic valve	98718	Morphological anomaly
98719	Pulmonary artery or pulmonary branch anomaly	98717, 98724	Category
980	Absence of the pulmonary artery	98719	Morphological anomaly
3189	Congenital pulmonary valvar stenosis	98719	Morphological anomaly
3190	Subpulmonary stenosis	3189	Clinical subtype
3192	Supravalvular pulmonary stenosis	3189	Clinical subtype
99054	Valvular pulmonary stenosis	3189	Clinical subtype
1676	Idiopathic pulmonary artery dilatation	98719	Disease
99083	Pulmonary artery hypoplasia	182111, 98719	Morphological anomaly
99084	Peripheral pulmonary stenosis	98719	Morphological anomaly
216675	Transposition of the great arteries	98717	Category
860	Congenitally uncorrected transposition of the great arteries	216675, 271853	Morphological anomaly
99042	Congenitally uncorrected transposition of the great arteries with coarctation	860	Clinical subtype
216718	Isolated congenitally uncorrected transposition of the great arteries	860	Clinical subtype
216729	Congenitally uncorrected transposition of the great arteries with cardiac malformation	860	Clinical subtype
216694	Congenitally corrected transposition of the great arteries	216675	Morphological anomaly
98720	Atrioventricular valve anomaly	88991	Category
2447	Congenital mitral malformation	98720	Category
95464	Congenital mitral valve insufficiency and/or stenosis	2447	Category
741	Familial mitral valve prolapse	271853, 95464	Morphological anomaly
1205	Mitral atresia	95464	Morphological anomaly
99057	Congenital mitral stenosis	95464	Morphological anomaly
99058	Hypoplasia of the mitral valve annulus	95464	Morphological anomaly
99059	Congenital supravalvular mitral ring	95464	Morphological anomaly
99060	Congenital unguarded mitral orifice	95464	Morphological anomaly
99061	Accessory mitral valve tissue	95464	Morphological anomaly
99062	Mitral valve agenesis	95464	Morphological anomaly
99063	Shone complex	95464	Malformation syndrome
101932	Anomaly of the mitral subvalvular apparatus	95464	Morphological anomaly
95465	Cleft mitral valve	2447	Morphological anomaly
95474	Double-orifice mitral valve	95465	Clinical subtype
99064	Straddling and/or overriding mitral valve	95465	Clinical subtype
98721	Congenital tricuspid malformation	98720	Category
95459	Congenital tricuspid stenosis	98721	Morphological anomaly
95461	Straddling or overriding tricuspid valve	98721	Morphological anomaly
95462	Accessory tricuspid valve tissue	98721	Morphological anomaly
95463	Anomaly of the tricuspid subvalvular apparatus	98721	Category
99055	Congenital anomaly of the tricuspid valve chordae	95463	Morphological anomaly
99056	Parachute tricuspid valve	95463	Morphological anomaly
555874	Congenital tricuspid valve dysplasia	98721	Morphological anomaly
1880	Ebstein malformation of the tricuspid valve	477805, 98721	Morphological anomaly
1209	Tricuspid atresia	98721	Morphological anomaly
95457	Tricuspid valve agenesis	98721	Morphological anomaly
98722	Atrioventricular septal defect	271853, 98720	Clinical group
1329	Complete atrioventricular septal defect	98722	Morphological anomaly
576227	Complete atrioventricular septal defect without ventricular hypoplasia	1329	Clinical subtype
99067	Complete atrioventricular septal defect with ventricular hypoplasia	1329	Clinical subtype
99068	Complete atrioventricular septal defect-tetralogy of Fallot	1329	Clinical subtype
1330	Partial atrioventricular septal defect	98722	Morphological anomaly
576232	Partial atrioventricular septal defect with ventricular hypoplasia	1330	Clinical subtype
576235	Partial atrioventricular septal defect without ventricular hypoplasia	1330	Clinical subtype
576242	Intermediate atrioventricular septal defect	98722	Morphological anomaly
555877	FLNA-related X-linked myxomatous valvular dysplasia	477805, 98720	Morphological anomaly
98724	Congenital anomaly of the great arteries	458844, 88991	Category
1132	Aortic arch defects	108995, 182111, 98724	Category
99075	Encircling double aortic arch	1132	Morphological anomaly
99076	Persistent fifth aortic arch	1132	Morphological anomaly
99077	Kommerell diverticulum	1132	Morphological anomaly
99078	Neuhauser anomaly	1132	Morphological anomaly
99079	Cervical aortic arch	1132	Morphological anomaly
99081	Right aortic arch	1132	Morphological anomaly
99082	Dysphagia lusoria	1132	Morphological anomaly
185	Scimitar syndrome	182111, 98724, 98729	Malformation syndrome
95485	Arterial duct anomaly	98724	Category
95486	Premature closure of the arterial duct	95485	Morphological anomaly
99072	Congenital patent ductus arteriosus aneurysm	95485	Morphological anomaly
466729	Familial patent arterial duct	211240, 271853, 95485	Morphological anomaly
98725	Ascending aorta anomaly	98724	Category
1054	Aneurysm of sinus of Valsalva	98725	Morphological anomaly
3400	Aorto-ventricular tunnel	98725	Morphological anomaly
99070	Aorto-right ventricular tunnel	3400	Clinical subtype
99071	Aorto-left ventricular tunnel	3400	Clinical subtype
98727	Rare atrial defect and interatrial communication	88991	Category
1478	Interatrial communication	271853, 98727	Morphological anomaly
99103	Atrial septal defect, ostium secundum type	1478	Clinical subtype
99104	Atrial septal defect, coronary sinus type	1478	Clinical subtype
99105	Atrial septal defect, sinus venosus type	1478	Clinical subtype
99106	Atrial septal defect, ostium primum type	1478	Clinical subtype
1463	Triatrial heart	98727	Clinical group
99098	Cor triatriatum dexter	1463	Morphological anomaly
99099	Cor triatriatum sinister	1463	Morphological anomaly
1677	Familial idiopathic dilatation of the right atrium	477805, 98727	Morphological anomaly
95510	Atrial appendage anomaly	98727	Category
99100	Juxtaposition of the atrial appendages	95510	Morphological anomaly
99101	Ectasia of the right atrial appendage	95510	Morphological anomaly
99102	Ectasia of the left atrial appendage	95510	Morphological anomaly
99107	Atrial septal aneurysm	98727	Morphological anomaly
568065	EPHB4-related lymphatic-related hydrops fetalis	568044, 98727	Disease
363189	Congenital anomaly of the great veins	458844, 88991	Category
3091	Congenital systemic veins anomaly	363189	Category
95498	Congenital anomaly of superior vena cava	3091	Category
652668	Primary superior vena cava aneurysm	95498	Malformation syndrome
99109	Persistent left superior vena cava connecting through coronary sinus to left-sided atrium	95498	Morphological anomaly
99110	Right superior vena cava connecting to left-sided atrium	95498	Morphological anomaly
99111	Persistent left superior vena cava connecting to the roof of left-sided atrium	95498	Morphological anomaly
99112	Absence of innominate vein	95498	Morphological anomaly
99113	Subaortic course of innominate vein	95498	Morphological anomaly
99114	Agenesis of the superior vena cava	95498	Morphological anomaly
95499	Congenital anomaly of the inferior vena cava	3091	Category
652678	Primary inferior vena cava aneurysm	95499	Morphological anomaly
99119	Right inferior vena cava connecting to left-sided atrium	95499	Morphological anomaly
99120	Persistent eustachian valve	95499	Morphological anomaly
99121	Azygos continuation of the inferior vena cava	95499	Morphological anomaly
99122	Congenital stenosis of the inferior vena cava	95499	Morphological anomaly
99123	Inferior vena cava interruption without azygos continuation	95499	Morphological anomaly
95500	Congenital anomaly of the coronary sinus	3091	Category
99117	Coronary sinus stenosis	95500	Morphological anomaly
99118	Coronary sinus atresia	95500	Morphological anomaly
95507	Congenital anomaly of hepatic vein	101938, 3091, 506210	Morphological anomaly
480531	Congenital portosystemic shunt	101938, 3091, 506210	Morphological anomaly
98729	Congenital pulmonary veins anomaly	363189	Category
3090	Congenital pulmonary venous return anomaly	98729	Clinical group
99124	Congenital partial pulmonary venous return anomaly	3090	Morphological anomaly
99125	Congenital total pulmonary venous return anomaly	3090	Morphological anomaly
3188	Congenital pulmonary veins atresia or stenosis	182111, 506222, 98729	Clinical group
99126	Congenital pulmonary vein atresia	3188	Morphological anomaly
642071	Primary pulmonary vein stenosis	3188	Disease
448270	Ectopia cordis	88991	Morphological anomaly
1055	Congenital left ventricular aneurysm	88991	Malformation syndrome
156532	Rare syndrome with cardiac malformations	97965, 98054	Category
488618	Transketolase deficiency	102283, 139021, 156532, 183570, 611327, 79186	Malformation syndrome
467176	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	156532, 522520, 97245, 98683	Disease
2475	White forelock with malformations	102285, 156532, 330206, 519296	Malformation syndrome
904	Williams syndrome	102283, 139021, 139393, 156532, 156629, 183570, 262056, 306765, 506213, 611327, 98033, 98574	Malformation syndrome
1352	Atrioventricular defect-blepharophimosis-radial and anal defect syndrome	102285, 156532, 330206, 98578	Malformation syndrome
2516	Microcephaly-cardiac defect-lung malsegmentation syndrome	102285, 156532, 330206	Malformation syndrome
2886	TARP syndrome	102283, 138044, 156532, 363294, 611327	Malformation syndrome
42775	PHACE syndrome	102006, 102283, 156532, 210589, 269523, 269567, 371436, 459543, 477771, 611327	Malformation syndrome
69737	Bosley-Salih-Alorainy syndrome	102283, 156532, 611327, 90642	Malformation syndrome
75389	Brain malformation-congenital heart disease-postaxial polydactyly syndrome	102283, 156532, 611327	Malformation syndrome
137628	Cardiac anomalies-heterotaxy syndrome	156532	Malformation syndrome
217026	Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type	102285, 139021, 156532, 183570, 330206	Malformation syndrome
228190	Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome	156532, 228184	Malformation syndrome
228410	Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome	102283, 139030, 156532, 611327	Malformation syndrome
664404	6q25.1 microdeletion syndrome	228410, 262047	Etiological subtype
664401	Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome due to TAB2 mutation	228410	Etiological subtype
230851	Cardiac-valvular Ehlers-Danlos syndrome	156532, 98249	Disease
284247	Familial retinal arterial macroaneurysm	156532, 183503, 71281, 716450, 717339	Malformation syndrome
369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	102283, 156532, 271853, 611327	Malformation syndrome
371183	Congenital disorder of glycosylation with cardiac malformation as a major feature	156532, 371235	Category
709	Peters plus syndrome	102283, 309505, 371047, 371183, 519276, 611327, 98638, 98644	Malformation syndrome
2953	Musculocontractural Ehlers-Danlos syndrome	309450, 371047, 371183, 371200, 371207, 97120, 98249	Disease
3474	CHIME syndrome	102283, 309515, 371071, 371183, 371200, 371212, 522520, 611327, 79373, 98683	Malformation syndrome
79329	MGAT2-CDG	309347, 371047, 371183, 611314	Disease
79333	COG7-CDG	102283, 309568, 371071, 371183, 371200, 611327	Disease
284139	Larsen-like syndrome, B3GAT3 type	139030, 309450, 371183, 371195, 93441	Malformation syndrome
444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	102283, 139021, 156532, 183570, 240371, 611327	Malformation syndrome
98733	Noonan syndrome and Noonan-related syndrome	139021, 156532, 183570, 536391	Category
638	Neurofibromatosis-Noonan syndrome	183466, 183487, 79375, 79386, 98196, 98733	Malformation syndrome
453499	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome	102283, 156532, 611327, 93454	Malformation syndrome
352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	262074, 453499	Etiological subtype
453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	453499	Etiological subtype
3191	Subaortic stenosis-short stature syndrome	102285, 139021, 156532, 183570, 330206	Malformation syndrome
457193	KAT6-related intellectual disability-craniofacial anomalies-cardiac defects syndrome	102283, 156532, 611327	Malformation syndrome
562569	TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome	102283, 156532, 611327	Malformation syndrome
870	Down syndrome	102283, 117573, 156532, 477771, 522564, 611327, 98131, 98571, 98574, 98576, 98623, 98642	Malformation syndrome
2519	Microcephaly-seizures-intellectual disability-heart disease syndrome	102283, 156532, 522520, 611327	Malformation syndrome
496693	Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome	102283, 102285, 108979, 156532, 180779, 294955, 404574, 611327	Malformation syndrome
508476	Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome	102285, 139039, 156532, 330206, 90642	Malformation syndrome
508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	102283, 139021, 156532, 183570, 611327	Malformation syndrome
1354	Heart defects-limb shortening syndrome	102285, 156532, 294955, 330206, 404574	Malformation syndrome
580933	Lethal brain and heart developmental defects	156532, 269523, 459787, 471383	Malformation syndrome
589435	Spondylometaphyseal dysplasia-corneal dystrophy syndrome	102283, 156532, 254, 611327, 98628	Malformation syndrome
592570	TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome	102283, 109009, 156532, 269531, 269564, 404577, 611327	Malformation syndrome
664438	Gingival fibromatosis-aortic root dilatation-facial dysmorphism-intellectual disability syndrome	102283, 139042, 156532, 183580, 611327, 98746	Malformation syndrome
684305	Neurooculocardiogenitourinary syndrome	102283, 156532, 165707, 519288, 611327	Disease
684742	2q13 microdeletion syndrome	102283, 156532, 262010, 611327	Malformation syndrome
688642	Turnpenny-Fry syndrome	102283, 156532, 269531, 611327, 90642	Malformation syndrome
646278	CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome	102283, 156532, 611327	Disease
98038	Cranial malformation	93890	Category
97340	Hunter-McAlpine syndrome	98038	Malformation syndrome
2050	Cole-Carpenter syndrome	102285, 183542, 330206, 519296, 93446, 98038	Malformation syndrome
1531	Craniosynostosis	183542, 364559, 404568, 98038	Category
139390	Non-syndromic craniosynostosis	1531	Clinical group
620096	Non-syndromic unisutural craniosynostosis	139390	Clinical group
620102	Non-syndromic unicoronal craniosynostosis	620096	Morphological anomaly
620113	Non-syndromic unilambdoid craniosynostosis	620096	Morphological anomaly
620139	Non-syndromic unifrontosphenoidal craniosynostosis	620096	Morphological anomaly
620146	Non-syndromic unisquamosal craniosynostosis	620096	Morphological anomaly
3366	Non-syndromic metopic craniosynostosis	620096, 98684	Morphological anomaly
35093	Non-syndromic sagittal craniosynostosis	620096, 98684	Morphological anomaly
620152	Non-syndromic multisutural craniosynostosis	139390	Clinical group
620158	Non-syndromic non-specific multisutural craniosynostosis	620152	Morphological anomaly
620178	Non-syndromic bilambdoid craniosynostosis	620152	Morphological anomaly
620186	Non-syndromic unicoronal and sagittal craniosynostosis	620152	Morphological anomaly
620192	Non-syndromic metopic and sagittal craniosynostosis	620152	Morphological anomaly
620198	Non-syndromic bicoronal and metopic craniosynostosis	620152	Morphological anomaly
620205	Non-syndromic bicoronal and sagittal craniosynostosis	620152	Morphological anomaly
620212	Non-syndromic pansynostosis	620152	Morphological anomaly
35099	Non-syndromic bicoronal craniosynostosis	611314, 620152, 98684	Morphological anomaly
1516	Non-syndromic bilambdoid and sagittal craniosynostosis	620152	Malformation syndrome
139393	Syndromic craniosynostosis	1531	Category
207	Crouzon syndrome	139393, 98650, 98684	Malformation syndrome
1308	C syndrome	102283, 139393, 611327	Malformation syndrome
87	Apert syndrome	102283, 138055, 139393, 611327, 98650, 98684	Malformation syndrome
83	Antley-Bixler syndrome	102283, 139393, 611327	Malformation syndrome
63269	Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis	418, 83, 90776, 90786	Clinical subtype
596008	Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis	83	Clinical subtype
1225	Baller-Gerold syndrome	117573, 139393	Malformation syndrome
1515	Cranioectodermal dysplasia	139393, 1505, 156162, 506213, 716405, 79373, 93587	Malformation syndrome
1527	Craniosynostosis, Philadelphia type	139393, 294959	Malformation syndrome
1528	Craniotelencephalic dysplasia	102010, 139393	Malformation syndrome
1540	Jackson-Weiss syndrome	139393	Malformation syndrome
1553	Curry-Jones syndrome	102283, 139393, 199639, 611327	Malformation syndrome
1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	102285, 139393, 330206, 477808, 79381	Malformation syndrome
2145	Craniosynostosis, Herrmann-Opitz type	139393	Malformation syndrome
2163	Holoprosencephaly-craniosynostosis syndrome	139393, 269531, 522520, 98683	Malformation syndrome
2409	Lowry-MacLean syndrome	102283, 139393, 611327, 98638	Malformation syndrome
2462	Shprintzen-Goldberg syndrome	102283, 139393, 284993, 611327	Malformation syndrome
2872	Cardiocranial syndrome, Pfeiffer type	102283, 139393, 611327	Malformation syndrome
3134	SCARF syndrome	102283, 139393, 209, 611327	Malformation syndrome
313855	FGFR2-related bent bone dysplasia	139393, 93439	Disease
3365	Trigonocephaly-broad thumbs syndrome	139393	Malformation syndrome
3369	Trigonocephaly-short stature-developmental delay syndrome	102283, 139393, 611327	Malformation syndrome
2898	X-linked intellectual disability-plagiocephaly syndrome	102283, 139393, 611327	Malformation syndrome
1541	Craniosynostosis, Boston type	139393	Malformation syndrome
1524	Craniomicromelic syndrome	139393	Malformation syndrome
52054	Craniosynostosis-intracranial calcifications syndrome	139393	Malformation syndrome
53271	Muenke syndrome	102283, 139393, 611327	Malformation syndrome
247651	Infantile hypophosphatasia	139393, 436, 98027	Clinical subtype
85199	Craniosynostosis-anal anomalies-porokeratosis syndrome	139393, 93451	Malformation syndrome
93262	Crouzon syndrome-acanthosis nigricans syndrome	139393, 98684	Malformation syndrome
93267	Cloverleaf skull-multiple congenital anomalies syndrome	139393, 522548, 98641	Malformation syndrome
247638	Prenatal benign hypophosphatasia	139393, 436	Clinical subtype
100978	Cloverleaf skull-asphyxiating thoracic dysplasia syndrome	139393	Malformation syndrome
169163	Familial scaphocephaly syndrome	139393	Category
1538	Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome	169163, 269546, 269570	Malformation syndrome
168624	Familial scaphocephaly syndrome, McGillivray type	102283, 169163, 611327	Malformation syndrome
171839	Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome	139393, 269531	Malformation syndrome
178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	139393	Malformation syndrome
221054	Acrocephalopolydactyly	139393	Malformation syndrome
284149	Craniosynostosis-dental anomalies	139042, 139393, 183580	Malformation syndrome
293925	Lethal occipital encephalocele-skeletal dysplasia syndrome	139393	Malformation syndrome
247667	Childhood-onset hypophosphatasia	139393, 436, 98027	Clinical subtype
293843	3MC syndrome	102283, 139393, 611327	Malformation syndrome
79213	Mucopolysaccharidosis	139009, 139393, 506219, 68366, 98638	Category
583	Mucopolysaccharidosis type 6	79213, 93448	Disease
276212	Mucopolysaccharidosis type 6, rapidly progressing	583	Clinical subtype
276223	Mucopolysaccharidosis type 6, slowly progressing	583	Clinical subtype
584	Mucopolysaccharidosis type 7	611314, 79213, 93448	Disease
579	Mucopolysaccharidosis type 1	611314, 68385, 79213, 93448	Disease
93474	Scheie syndrome	579	Clinical subtype
581	Mucopolysaccharidosis type 3	225681, 611314, 68385, 79213, 93448, 98644	Disease
79269	Sanfilippo syndrome type A	581	Etiological subtype
79270	Sanfilippo syndrome type B	581	Etiological subtype
79271	Sanfilippo syndrome type C	581	Etiological subtype
79272	Sanfilippo syndrome type D	581	Etiological subtype
582	Mucopolysaccharidosis type 4	79213, 93448	Disease
309310	Mucopolysaccharidosis type 4B	582	Clinical subtype
309297	Mucopolysaccharidosis type 4A	582	Clinical subtype
67041	Hyaluronidase deficiency	79213, 93448	Disease
662216	Mucopolysaccharidosis type 10	611314, 68385, 79213, 93448	Disease
2645	Osteoglosphonic dysplasia	139393, 93450	Malformation syndrome
3270	Radioulnar synostosis-developmental delay-hypotonia syndrome	102283, 139393, 522520, 611327, 93459, 98683	Malformation syndrome
369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	102283, 139393, 309515, 371195, 611327	Malformation syndrome
1520	Craniofrontonasal dysplasia	102283, 139393, 250, 364574, 611327	Malformation syndrome
65759	Carpenter syndrome	102283, 139393, 240371, 363250, 611327	Malformation syndrome
2655	Thanatophoric dysplasia	139393, 364536, 93420	Disease
1860	Thanatophoric dysplasia type 1	2655	Clinical subtype
93274	Thanatophoric dysplasia type 2	2655	Clinical subtype
763	Pycnodysostosis	139393, 2781, 68366	Disease
1465	Coffin-Siris syndrome	102283, 139393, 498454, 611327	Malformation syndrome
36	Acrocallosal syndrome	102283, 139393, 199639, 269573, 294959, 611327	Malformation syndrome
235	Dubowitz syndrome	102283, 139021, 139393, 183570, 611327, 79373, 98578	Malformation syndrome
647681	Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome	139393	Malformation syndrome
565858	Craniosynostosis-microretrognathia-severe intellectual disability syndrome	102283, 139393, 166472, 611327	Malformation syndrome
672979	Craniosynostosis-facial dysmorphism-brachydactyly syndrome	139393	Malformation syndrome
672985	Craniosynostosis-skeletal and cerebellar anomalies-learning disabilities syndrome	139393	Malformation syndrome
2332	KBG syndrome	102283, 139021, 139042, 139393, 183580, 611327	Malformation syndrome
96169	Koolen-De Vries syndrome	102283, 139393, 611327	Malformation syndrome
363958	17q21.31 microdeletion syndrome	262137, 96169	Etiological subtype
363965	Koolen-De Vries syndrome due to a point mutation	96169	Etiological subtype
97297	Bohring-Opitz syndrome	102283, 139393, 611327	Malformation syndrome
1906	Fetal valproate spectrum disorder	138059, 139393, 370068	Malformation syndrome
710	Pfeiffer syndrome	139393, 98684	Malformation syndrome
93258	Pfeiffer syndrome type 1	710	Clinical subtype
93259	Pfeiffer syndrome type 2	710	Clinical subtype
93260	Pfeiffer syndrome type 3	710	Clinical subtype
794	Saethre-Chotzen syndrome	139393, 183422, 611314, 98578, 98684	Malformation syndrome
945	Acalvaria	98038	Malformation syndrome
1513	Craniodiaphyseal dysplasia	183542, 93444, 98038	Malformation syndrome
1790	Hypomandibular faciocranial dysostosis	102283, 183542, 611327, 98038	Malformation syndrome
77296	Morgagni-Stewart-Morel syndrome	183542, 98038	Malformation syndrome
1114	Aplasia cutis congenita	183481, 183542, 79380, 98038	Malformation syndrome
93451	Cleidocranial dysplasia and isolated cranial ossification defect	364526, 98038	Category
251290	Parietal foramina with clavicular hypoplasia	93451	Malformation syndrome
1452	Cleidocranial dysplasia	139042, 183542, 93451	Malformation syndrome
3034	Delayed membranous cranial ossification	183542, 93451	Malformation syndrome
3472	Yunis-Varon syndrome	102283, 611327, 93451	Malformation syndrome
60015	Enlarged parietal foramina	183542, 93451	Malformation syndrome
974	Adams-Oliver syndrome	102283, 183481, 183542, 294955, 404574, 498454, 522548, 611327, 79380, 98038, 98641	Malformation syndrome
1522	Craniometaphyseal dysplasia	183542, 93444, 98038	Malformation syndrome
1826	Frontometaphyseal dysplasia	102283, 183542, 364541, 611327, 98038	Disease
2780	Osteopathia striata-cranial sclerosis syndrome	183542, 2781, 611314, 98038	Malformation syndrome
2763	Osteocraniostenosis	183542, 93440, 98038	Malformation syndrome
98039	Digestive tract malformation	165711, 93890	Category
88993	Esophageal malformation	183545, 98039	Category
108959	Non-syndromic esophageal malformation	88993	Category
1199	Esophageal atresia	108959	Morphological anomaly
91357	Duplication of the esophagus	108959	Clinical group
100047	Isolated esophageal duplication cyst	91357	Morphological anomaly
100048	Isolated tubular duplication of the esophagus	91357	Morphological anomaly
91358	Congenital esophageal diverticulum	108959	Morphological anomaly
645749	Congenital esophageal stenosis	108959	Morphological anomaly
2004	Laryngotracheoesophageal cleft	108959, 108993, 156249, 182111	Morphological anomaly
93938	Laryngotracheoesophageal cleft type 1	2004	Clinical subtype
93939	Laryngotracheoesophageal cleft type 2	2004	Clinical subtype
93940	Laryngotracheoesophageal cleft type 3	2004	Clinical subtype
93941	Laryngotracheoesophageal cleft type 4	2004	Clinical subtype
280205	Laryngotracheoesophageal cleft type 0	2004	Clinical subtype
454750	Isolated tracheoesophageal fistula	108959, 108993, 182111	Morphological anomaly
108961	Syndromic esophageal malformation	88993	Category
869	Triple A syndrome	101960, 108961, 207015, 371445, 611314, 98604	Disease
929	Achalasia-microcephaly syndrome	108961, 371445	Malformation syndrome
1305	Feingold syndrome	102283, 108961, 108965, 108993, 117573, 371445, 498454, 611327	Malformation syndrome
391641	Feingold syndrome type 1	1305	Clinical subtype
391646	Feingold syndrome type 2	1305	Clinical subtype
77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	102283, 108961, 202948, 371445, 611327, 95495	Malformation syndrome
514352	Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome	108961, 371445	Malformation syndrome
97944	Gastroduodenal malformation	183545, 98039	Category
108963	Non-syndromic gastroduodenal malformation	97944	Category
662376	Isolated gastric duplication	108963	Morphological anomaly
662405	Isolated pyloric duplication	108963	Morphological anomaly
1203	Duodenal atresia	108963, 108967	Morphological anomaly
199293	Congenital microgastria	108963	Morphological anomaly
108965	Syndromic gastroduodenal malformation	97944	Category
2538	Microgastria-limb reduction defect syndrome	102283, 108965	Malformation syndrome
97945	Intestinal malformation	183545, 506216, 98039	Category
108967	Non-syndromic intestinal malformation	97945	Category
2300	Isolated multiple intestinal atresia	108967	Morphological anomaly
2301	Congenital short bowel syndrome	108967, 365563	Morphological anomaly
1201	Small bowel atresia	108967, 365563	Morphological anomaly
1198	Colonic atresia	108967	Morphological anomaly
662456	Isolated small intestine duplication	108967	Morphological anomaly
662473	Isolated duodenal duplication	662456	Clinical subtype
662480	Isolated jejuno-ileal duplication	662456	Clinical subtype
508410	Familial intestinal malrotation	108967	Morphological anomaly
662392	Isolated colonic duplication	108967	Morphological anomaly
108969	Syndromic intestinal malformation	97945	Category
557866	Rare disorder with Hirschsprung disease as a major feature	108969	Category
110	Bardet-Biedl syndrome	102283, 104009, 156162, 156180, 156183, 181387, 240371, 399846, 506213, 557866, 611327, 716405, 93587	Disease
66629	Goldberg-Shprintzen megacolon syndrome	102283, 104009, 139039, 557866, 611327, 98578	Malformation syndrome
99803	Haddad syndrome	101944, 104009, 156610, 423662, 434786, 522520, 557866, 98683	Malformation syndrome
163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	104009, 183469, 557866, 611314, 68356, 79376, 90642, 98497	Disease
897	Waardenburg-Shah syndrome	104009, 183469, 557866, 79376, 90642	Disease
2150	Hirschsprung disease-type D brachydactyly syndrome	102285, 104009, 330206, 557866	Malformation syndrome
2152	Mowat-Wilson syndrome	102283, 166472, 557866, 611327	Malformation syndrome
261537	Mowat-Wilson syndrome due to monosomy 2q22	166469, 2152, 262010	Etiological subtype
261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	2152	Etiological subtype
2153	Hirschsprung disease-nail hypoplasia-dysmorphism syndrome	104009, 557866, 79370	Malformation syndrome
2155	Hirschsprung disease-deafness-polydactyly syndrome	102285, 104009, 330206, 557866, 90642	Malformation syndrome
2464	Marfanoid syndrome, De Silva type	108969	Malformation syndrome
1759	Thoraco-abdominal enteric duplication	108969	Malformation syndrome
3405	Umbilical cord ulceration-intestinal atresia syndrome	108969	Malformation syndrome
293864	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome	108969, 108973, 498350	Malformation syndrome
436252	Combined immunodeficiency-multiple intestinal atresia	108969, 331217, 506219	Disease
527468	Diaphragmatic hernia-short bowel-asplenia syndrome	108969, 108973, 108979, 180779, 459787, 471383	Malformation syndrome
506307	Stromme syndrome	102283, 108969, 156162, 156165, 519276, 611327, 716459, 717348	Malformation syndrome
684757	Malformation of the anal canal and the rectum	183545, 98039	Category
96346	Anorectal malformation	506216, 684757	Category
557	Non-syndromic anorectal malformation	96346	Clinical group
600952	Non-syndromic perineal fistula	557	Morphological anomaly
600961	Non-syndromic rectourethral fistula	557	Morphological anomaly
600966	Non-syndromic rectourethral fistula, bulbar type	600961	Clinical subtype
600975	Non-syndromic rectourethral fistula, prostatic type	600961	Clinical subtype
600984	Non-syndromic rectovesical fistula	557	Morphological anomaly
600993	Non-syndromic vestibular fistula	557	Morphological anomaly
600998	Non-syndromic cloacal malformation	557	Morphological anomaly
601002	Non-syndromic anorectal malformation without fistula	557	Morphological anomaly
601008	Non-syndromic anal stenosis	557	Morphological anomaly
601013	Non-syndromic pouch colon	557	Morphological anomaly
601018	Non-syndromic rectal atresia	557	Morphological anomaly
601023	Non-syndromic rectal stenosis	557	Morphological anomaly
601028	Non-syndromic rectovaginal fistula	557	Morphological anomaly
601033	Non-syndromic H-type fistula	557	Morphological anomaly
117573	Syndromic anorectal malformation	96346	Category
857	Townes-Brocks syndrome	102285, 117573, 294959, 330206, 90642	Malformation syndrome
884	Pallister-Killian syndrome	108979, 117573, 166469, 180779, 262658, 93461	Malformation syndrome
1552	Currarino syndrome	117573, 180148, 93454	Malformation syndrome
1590	Distal deletion 13q syndrome	117573, 262101, 98642	Malformation syndrome
1436	X-linked skeletal dysplasia-intellectual disability syndrome	102283, 117573, 611327, 93434	Malformation syndrome
2315	Johanson-Blizzard syndrome	102283, 117573, 139021, 177107, 183570, 611327, 79373, 95495	Malformation syndrome
2322	Kabuki syndrome	102283, 108979, 117573, 139021, 180779, 183570, 611327, 98570	Malformation syndrome
2408	Lowe-Kohn-Cohen syndrome	117573, 90642	Malformation syndrome
2556	Microphthalmia with linear skin defects syndrome	102283, 117573, 139027, 183481, 202948, 611327, 79380, 98638	Malformation syndrome
2973	46,XX difference of sex development-anorectal anomalies syndrome	117573, 180148, 325109	Malformation syndrome
3138	Ulnar-mammary syndrome	102283, 117573, 180173, 294955, 404574, 611327	Malformation syndrome
3412	VACTERL with hydrocephalus	102283, 117573, 611327	Malformation syndrome
2745	Opitz GBBB syndrome	102283, 108995, 117573, 165707, 611327, 98575	Malformation syndrome
782	Axenfeld-Rieger syndrome	102285, 117573, 330206, 519276, 95495, 98638	Malformation syndrome
75857	6q terminal deletion syndrome	117573, 262047	Malformation syndrome
83628	LUMBAR syndrome	102285, 117573, 210589, 269531, 330206, 79385	Malformation syndrome
93271	Short rib-polydactyly syndrome, Verma-Naumoff type	117573, 1505	Malformation syndrome
93293	Okihiro syndrome	117573, 294955, 404574, 522520, 98683	Malformation syndrome
261638	Okihiro syndrome due to 20q13 microdeletion	262164, 93293	Etiological subtype
261647	Okihiro syndrome due to a point mutation	93293	Etiological subtype
96176	Ring chromosome 13 syndrome	117573, 363203	Malformation syndrome
96185	Maternal uniparental disomy of chromosome 16 syndrome	117573, 98153	Malformation syndrome
140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	102285, 117573, 294959, 330206	Malformation syndrome
444941	Caudal regression-sirenomelia spectrum	109009, 117573, 165707, 404577	Clinical group
3169	Sirenomelia	444941	Malformation syndrome
1768	Familial caudal dysgenesis	269531, 269564, 444941	Malformation syndrome
496751	EVEN-plus syndrome	102285, 117573, 253, 330206	Malformation syndrome
93932	FG syndrome type 1	102283, 117573, 269531, 611327	Disease
2345	Isolated Klippel-Feil syndrome	117573, 93454	Malformation syndrome
611201	Oculogastrointestinal-neurodevelopmental syndrome	102283, 117573, 202948, 611327, 90642	Malformation syndrome
93270	Short rib-polydactyly syndrome, Saldino-Noonan type	117573, 1505	Malformation syndrome
684752	Isolated anal canal duplication	684757	Morphological anomaly
171220	Isolated rectal duplication	684757	Morphological anomaly
98041	Visceral malformation of the liver, biliary tract, pancreas or spleen	165711, 93890	Category
108971	Non-syndromic visceral malformation of the liver, biliary tract, pancreas or spleen	183548, 506216, 98041	Category
2040	Congenital respiratory-biliary fistula	101941, 108971, 108993, 182111	Morphological anomaly
2805	Partial pancreatic agenesis	108971	Morphological anomaly
675	Annular pancreas	108971	Morphological anomaly
674	Accessory pancreas	108971	Morphological anomaly
30391	Isolated biliary atresia	108971, 498345, 506210	Morphological anomaly
53035	Caroli disease	101941, 108971, 156607, 506210	Malformation syndrome
101351	Familial isolated congenital asplenia	108971, 331193	Morphological anomaly
457083	Isolated splenogonadal fusion	108971	Morphological anomaly
693869	Gallblader arteriovenous malformation	108971, 693855	Malformation syndrome
662388	Isolated gallbladder duplication	101941, 108971	Morphological anomaly
688523	Splenic venous malformation	108971, 715334	Disease
693863	Splenic arteriovenous malformation	108971, 693855	Malformation syndrome
693826	Pancreatic arteriovenous malformation	108971, 693855	Malformation syndrome
108973	Syndromic visceral malformation of the liver, biliary tract, pancreas or spleen	183548, 98041	Category
294415	Renal-hepatic-pancreatic dysplasia	101939, 108973, 156162, 156180, 156604, 506213, 93587	Malformation syndrome
2063	Splenogonadal fusion-limb defects-micrognathia syndrome	108973, 139036, 183576, 294955, 404574	Malformation syndrome
244283	Biliary atresia with splenic malformation syndrome	108973, 498350, 506210	Malformation syndrome
689829	Microphthalmia-motor delay-language delay-brain anomalies-diaphragmatic hernia syndrome	102283, 108973, 202948, 611327	Disease
556955	Pancreatic agenesis-holoprosencephaly syndrome	102283, 108973, 269531, 269564, 611327	Disease
98043	Diaphragmatic or abdominal wall malformation	165711, 93890	Category
108977	Non-syndromic diaphragmatic or abdominal wall malformation	98043	Category
2140	Congenital diaphragmatic hernia	101944, 108977, 180776	Morphological anomaly
660	Omphalocele	108977	Morphological anomaly
695032	Giant omphalocele	660	Clinical subtype
695038	Small omphalocele	660	Clinical subtype
2368	Gastroschisis	108977, 365563	Morphological anomaly
490	Omphalomesenteric cyst	108977	Morphological anomaly
697986	Congenital peritoneal encapsulation	108977	Malformation syndrome
108979	Syndromic diaphragmatic or abdominal wall malformation	98043	Category
280	Wolf-Hirschhorn syndrome	102283, 108979, 166469, 180779, 261884, 611327, 90642, 98642	Malformation syndrome
199	Cornelia de Lange syndrome	102283, 108979, 138055, 139021, 180779, 183570, 294955, 404574, 611327, 98578	Malformation syndrome
287	Classical Ehlers-Danlos syndrome	108979, 167762, 180779, 98249	Disease
1335	Pentalogy of Cantrell	102285, 108979, 180779, 330206	Malformation syndrome
2059	Fryns syndrome	102283, 108979, 611327	Malformation syndrome
2141	Diaphragmatic defect-limb deficiency-skull defect syndrome	102285, 108979, 180779, 330206	Malformation syndrome
2143	Donnai-Barrow syndrome	102283, 108979, 180779, 611327	Malformation syndrome
2369	Limb body wall complex	108979	Malformation syndrome
2470	Matthew-Wood syndrome	102283, 102285, 108979, 108993, 108995, 180779, 182108, 182111, 183622, 202948, 330206, 611327	Malformation syndrome
2736	Lethal omphalocele-cleft palate syndrome	102283, 108979, 139039, 611327	Malformation syndrome
2847	Pericardial and diaphragmatic defect	108979, 183530	Malformation syndrome
3164	Omphalocele syndrome, Shprintzen-Goldberg type	102283, 108979, 611327	Malformation syndrome
209	Cutis laxa	108979, 139027, 139030, 180779, 228215	Clinical group
2078	Geroderma osteodysplastica	209, 93446	Malformation syndrome
2962	De Barsy syndrome	102283, 207018, 209, 289866, 611327, 68385, 79389, 98628, 98644	Disease
35664	ALDH18A1-related De Barsy syndrome	2962	Etiological subtype
293633	PYCR1-related De Barsy syndrome	2962	Etiological subtype
3342	Arterial tortuosity syndrome	209, 285014	Malformation syndrome
198	Occipital horn syndrome	102283, 209, 309839, 611327	Disease
90348	Autosomal dominant cutis laxa	209	Disease
90349	Autosomal recessive cutis laxa type 1	209, 233655	Disease
90350	Autosomal recessive cutis laxa type 2	209, 289866, 93446	Clinical group
357058	Autosomal recessive cutis laxa type 2A	309778, 371071, 371195, 371200, 611314, 90350	Disease
2834	Wrinkly skin syndrome	357058	Clinical subtype
357074	Autosomal recessive cutis laxa type 2, classic type	357058	Clinical subtype
357064	Autosomal recessive cutis laxa type 2B	90350	Disease
217335	RIN2 syndrome	102283, 209, 611327	Malformation syndrome
221145	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	209	Malformation syndrome
363705	Craniofaciofrontodigital syndrome	102283, 209, 611327, 93453	Disease
314718	Lethal arteriopathy syndrome due to fibulin-4 deficiency	209, 233655	Disease
96170	Emanuel syndrome	108979, 180779, 263708	Malformation syndrome
230839	Classical-like Ehlers-Danlos syndrome type 1	108979, 167762, 180779, 98249	Disease
280403	Familial omphalocele syndrome with facial dysmorphism	108979, 183530	Malformation syndrome
314432	Spigelian hernia-cryptorchidism syndrome	108979	Malformation syndrome
480528	Lethal hydranencephaly-diaphragmatic hernia syndrome	108979, 180779, 269531, 269564, 459787, 471383	Malformation syndrome
98044	Central nervous system malformation	93890, 98006	Category
108989	Non-syndromic central nervous system malformation	98044	Category
2185	Congenital hydrocephalus	108989, 269550	Malformation syndrome
269505	Congenital communicating hydrocephalus	2185	Clinical subtype
269510	Congenital non-communicating hydrocephalus	2185	Clinical subtype
3388	Neural tube defect	108989, 269550	Category
268357	Neural tube closure defect	3388	Category
823	Spina bifida and other spinal dysraphisms	268357	Category
268369	Open spinal dysraphism	823	Clinical group
645270	Open spinal dysraphism with a posterior meningocele	268369, 268744	Clinical group
645378	Myelic limited dorsal malformation	645270, 645319	Morphological anomaly
93969	Open spinal dysraphism with a myelomeningocele	645270	Morphological anomaly
645383	True myelomeningocele	93969	Clinical subtype
645388	Hemi-myelomeningocele	93969	Clinical subtype
645398	Myeloschisis	268369	Morphological anomaly
645401	True myeloschisis	645398	Clinical subtype
645393	Hemi-myeloschisis	645398	Clinical subtype
268744	Spinal dysraphism with a posterior meningocele	823	Clinical group
268810	Isolated posterior meningocele	268744, 645202	Morphological anomaly
268813	Myelocystocele	268744, 645202	Clinical group
645337	Terminal myelocystocele	268813, 645319	Morphological anomaly
645340	Non-terminal myelocystocele	268813	Morphological anomaly
645319	Saccular spinal dysraphism with a stalk to the dome	268744, 645196	Clinical group
645354	Saccular limited dorsal myeloschisis	645319	Morphological anomaly
645202	Closed spinal dysraphism	823	Clinical group
573278	Split cord malformation	268843, 645202	Clinical group
573253	Split cord malformation type II	573278	Morphological anomaly
1671	Split cord malformation type I	573278	Morphological anomaly
633076	Split cord malformation, composite type	573278	Morphological anomaly
656126	Segmental spinal dysgenesis	268843, 645202	Disease
645273	Dysraphic spinal cord lipoma	645202, 645276	Clinical group
645362	Dorsal spinal cord lipoma	645273	Morphological anomaly
645367	Conus spinal cord lipoma	645273	Clinical group
645285	Chaotic conus spinal cord lipoma	645367	Morphological anomaly
645297	Extramedullary conus spinal cord lipoma	645367	Morphological anomaly
645291	Transitional extramedullary conus spinal cord lipoma	645297	Clinical subtype
645288	Terminal extramedullary conus spinal cord lipoma	645297	Clinical subtype
645294	Posterior extramedullary conus spinal cord lipoma	645297	Clinical subtype
645193	Dysraphism with stalk	645202	Clinical group
645334	Retained medullary cord	645193, 645282	Morphological anomaly
645188	Spinal dermal sinus	645193	Morphological anomaly
645196	Limited dorsal myeloschisis	645193	Clinical group
645343	Non-saccular limited dorsal myeloschisis	645196	Morphological anomaly
645310	Fibroneural non-saccular limited dorsal myeloschisis	645343	Histopathological subtype
645300	Lipomatous non-saccular limited dorsal myeloschisis	645343	Histopathological subtype
645282	Anomaly of the filum	268357	Clinical group
645279	Fibrolipomatous filum anomaly	645282	Clinical group
645325	Isolated filum lipoma	645279	Morphological anomaly
645322	Isolated transitional filum lipoma	645279	Morphological anomaly
645276	Spinal cord lipoma	268357	Clinical group
645359	Intramedullary non-dysraphic spinal cord lipoma	645276	Morphological anomaly
268843	Malformation of the neurenteric canal, spinal cord and column	3388	Category
63260	Craniorachischisis	268843	Morphological anomaly
1048	Isolated anencephaly/exencephaly	102283, 268843	Morphological anomaly
563609	Isolated anencephaly	1048	Clinical subtype
563612	Isolated exencephaly	1048	Clinical subtype
63259	Iniencephaly	268843	Morphological anomaly
268363	Open iniencephaly	63259	Clinical subtype
268366	Closed iniencephaly	63259	Clinical subtype
268817	Cephalocele	268843	Clinical group
199647	Isolated encephalocele	268817	Morphological anomaly
268826	Parietal encephalocele	199647	Clinical subtype
268829	Basal encephalocele	199647	Clinical subtype
1931	Frontal encephalocele	199647	Clinical subtype
141118	Nasal encephalocele	156246, 199647	Clinical subtype
268823	Occipital encephalocele	199647	Clinical subtype
268820	Cranial meningocele	268817	Morphological anomaly
2789	Lateral meningocele syndrome	268843	Malformation syndrome
99856	Primary syringomyelia	268843, 3280	Morphological anomaly
99858	Idiopathic syringomyelia	99856	Clinical subtype
370034	Familial syringomyelia	183515, 99856	Clinical subtype
268861	Primary tethered cord syndrome	268843	Morphological anomaly
268865	Neurenteric cyst	268843	Morphological anomaly
268868	Isolated amyelia	268843	Morphological anomaly
268882	Arnold-Chiari malformation type I	268843	Morphological anomaly
397927	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome	268843	Malformation syndrome
98518	Cranial nerve and nuclear aplasia	108989, 269550	Category
570	Moebius syndrome	102283, 139036, 156224, 183576, 522520, 611327, 98518, 98683	Disease
233	Duane retraction syndrome	519341, 522506, 98518	Malformation syndrome
306527	Isolated hereditary congenital facial paralysis	156224, 98518	Morphological anomaly
306530	Congenital hereditary facial paralysis-variable hearing loss syndrome	156224, 98518	Morphological anomaly
324353	Congenital achiasma	98518	Morphological anomaly
98519	Posterior fossa malformation	108989	Category
98523	Non-syndromic pontocerebellar hypoplasia	166478, 269557, 98519	Clinical group
2524	Pontocerebellar hypoplasia type 2	207012, 98523	Malformation syndrome
2254	Pontocerebellar hypoplasia type 1	207012, 98523	Malformation syndrome
97249	Pontocerebellar hypoplasia type 3	441434, 98523	Malformation syndrome
166063	Pontocerebellar hypoplasia type 4	98523	Malformation syndrome
166073	Pontocerebellar hypoplasia type 6	35696, 98523	Malformation syndrome
284339	Pontocerebellar hypoplasia type 7	102283, 611327, 98523	Malformation syndrome
324569	Pontocerebellar hypoplasia type 8	98523	Malformation syndrome
369920	Pontocerebellar hypoplasia type 9	98523	Malformation syndrome
411493	Pontocerebellar hypoplasia type 10	102283, 611327, 98523	Malformation syndrome
611256	Pontocerebellar hypoplasia type 12	1037, 98523	Malformation syndrome
611247	Pontocerebellar hypoplasia type 11	102283, 611327, 98523	Malformation syndrome
613267	Pontocerebellar hypoplasia type 13	102283, 611327, 98523	Malformation syndrome
613274	Pontocerebellar hypoplasia type 14	102283, 611327, 98523	Malformation syndrome
182061	Cerebellar malformation	98519	Category
59315	Rhombencephalosynapsis	182061	Malformation syndrome
98514	Malformation of the cerebellar vermis	182061	Category
475	Isolated Joubert syndrome	102283, 140874, 269560, 611327, 98514	Malformation syndrome
199630	Isolated cerebellar vermis hypoplasia	98514	Morphological anomaly
269203	Isolated cerebellar vermis agenesis	98514	Morphological anomaly
269206	Isolated total cerebellar vermis agenesis	269203	Clinical subtype
269209	Isolated partial cerebellar vermis agenesis	269203	Clinical subtype
98516	Malformation of the cerebellar hemispheres	182061	Category
269218	Isolated unilateral hemispheric cerebellar hypoplasia	98516	Morphological anomaly
269221	Isolated bilateral hemispheric cerebellar hypoplasia	98516	Morphological anomaly
269224	Global cerebellar malformation	182061	Category
1397	Hydrocephaly-cerebellar agenesis syndrome	269224, 269560, 522548	Malformation syndrome
1398	Isolated cerebellar agenesis	269224	Morphological anomaly
269229	Pontine tegmental cap dysplasia	98519	Morphological anomaly
217	Isolated Dandy-Walker malformation	269557, 98519	Morphological anomaly
269212	Isolated Dandy-Walker malformation with hydrocephalus	217	Clinical subtype
269215	Isolated Dandy-Walker malformation without hydrocephalus	217	Clinical subtype
97252	Mega-cisterna magna	98519	Morphological anomaly
98922	Blake pouch cyst	98519	Morphological anomaly
199633	Non-syndromic cerebral malformation	108989	Category
1665	Sporadic fetal brain disruption sequence	199633	Malformation syndrome
2477	Isolated megalencephaly	199633, 269553	Malformation syndrome
99802	Hemimegalencephaly	166478, 199633, 530313	Malformation syndrome
163209	Non-syndromic cerebral malformation due to abnormal neuronal migration	166478, 199633, 269553	Category
2149	Nodular neuronal heterotopia	102283, 163209, 611327	Morphological anomaly
98892	Periventricular nodular heterotopia	2149	Clinical subtype
101029	Sub-cortical nodular heterotopia	2149	Clinical subtype
101030	Subependymal nodular heterotopia	2149	Clinical subtype
35981	Polymicrogyria	102283, 163209, 611327	Clinical group
268940	Bilateral polymicrogyria	35981	Morphological anomaly
98889	Bilateral perisylvian polymicrogyria	268940	Clinical subtype
101070	Bilateral frontoparietal polymicrogyria	268940	Clinical subtype
208441	Bilateral parasagittal parieto-occipital polymicrogyria	268940	Clinical subtype
208444	Bilateral frontal polymicrogyria	268940	Clinical subtype
208447	Bilateral generalized polymicrogyria	268940	Clinical subtype
268943	Unilateral polymicrogyria	35981	Morphological anomaly
101071	Unilateral hemispheric polymicrogyria	268943	Clinical subtype
268947	Unilateral focal polymicrogyria	268943	Clinical subtype
99796	Subcortical band heterotopia	163209	Morphological anomaly
268950	Cerebral cortical dysplasia	163209	Clinical group
65683	Isolated focal cortical dysplasia	268950	Disease
268961	Isolated focal cortical dysplasia type I	65683	Clinical subtype
268973	Isolated focal cortical dysplasia type Ia	268961	Histopathological subtype
268980	Isolated focal cortical dysplasia type Ib	268961	Histopathological subtype
268987	Isolated focal cortical dysplasia type Ic	268961	Histopathological subtype
268994	Isolated focal cortical dysplasia type II	65683	Clinical subtype
269001	Isolated focal cortical dysplasia type IIa	268994	Histopathological subtype
269008	Isolated focal cortical dysplasia type IIb	268994	Histopathological subtype
280640	Occipital pachygyria and polymicrogyria	163209	Malformation syndrome
300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	102283, 163209, 611327	Disease
329329	Autosomal recessive frontotemporal pachygyria	163209	Malformation syndrome
2798	Pachygyria-intellectual disability-epilepsy syndrome	102283, 163209, 611327	Malformation syndrome
199642	Isolated congenital microcephaly	199633, 269553	Malformation syndrome
2512	Autosomal recessive primary microcephaly	102283, 199642, 519343, 522508, 611327	Etiological subtype
2514	Autosomal dominant primary microcephaly	102283, 199642, 611327	Etiological subtype
268926	Midline cerebral malformation	199633, 269553	Category
2162	Holoprosencephaly	102283, 166478, 268926, 611327, 95495	Malformation syndrome
93924	Lobar holoprosencephaly	2162	Clinical subtype
93925	Alobar holoprosencephaly	2162	Clinical subtype
93926	Midline interhemispheric variant of holoprosencephaly	2162	Clinical subtype
220386	Semilobar holoprosencephaly	2162	Clinical subtype
280195	Septopreoptic holoprosencephaly	2162	Clinical subtype
1126	Aprosencephaly cerebellar dysgenesis	268926	Malformation syndrome
314621	Duplication of the pituitary gland	181384, 268926	Morphological anomaly
280200	Microform holoprosencephaly	268926	Malformation syndrome
566847	Aprosencephaly/atelencephaly spectrum	268926, 459787	Morphological anomaly
566852	Atelencephaly	566847	Clinical subtype
566857	Aprosencephaly	566847	Clinical subtype
268936	Isolated arhinencephaly	199633	Morphological anomaly
269190	Encephaloclastic disorder	199633, 269553	Clinical group
799	Schizencephaly	166478, 269190, 98683	Disease
485275	Acquired schizencephaly	799	Etiological subtype
481986	Familial schizencephaly	477765, 799	Etiological subtype
2177	Hydranencephaly	269190	Malformation syndrome
2940	Porencephaly	166478, 269190	Disease
99810	Familial porencephaly	2940, 477765	Etiological subtype
314697	Acquired porencephaly	2940	Etiological subtype
319192	Diencephalic-mesencephalic junction dysplasia	199633, 269553	Morphological anomaly
200	Isolated corpus callosum agenesis	199633	Morphological anomaly
269194	Central nervous system cystic malformation	108989	Category
2356	Arachnoid cyst	269194, 269550, 95505	Morphological anomaly
269197	Glioependymal/ependymal cyst	269194	Morphological anomaly
530033	Dermoid or epidermoid cyst of the central nervous system	269194, 269550	Morphological anomaly
108991	Syndrome with a central nervous system malformation as a major feature	98044	Category
48471	Lissencephaly	102283, 108991, 166478, 269564, 611327	Category
1083	Microlissencephaly	199639, 269573, 48471	Morphological anomaly
89844	Lissencephaly syndrome, Norman-Roberts type	1083	Clinical subtype
51577	Cobblestone lissencephaly	48471	Clinical group
352682	Cobblestone lissencephaly without muscular or ocular involvement	51577	Disease
352687	Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies	370953, 51577	Clinical group
272	Congenital muscular dystrophy, Fukuyama type	207122, 309469, 352687, 371071, 371235, 522520, 98638, 98644, 98683	Malformation syndrome
899	Walker-Warburg syndrome	207119, 207122, 209024, 209030, 209033, 309469, 352687, 371071, 371235, 716446	Disease
588	Muscle-eye-brain disease	207119, 207122, 209024, 209033, 309469, 352687, 371071, 371235, 522520, 98638, 98644, 98683	Malformation syndrome
370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	352687, 371040	Disease
86823	Lissencephaly with cerebellar hypoplasia	48471	Clinical group
100011	Lissencephaly with cerebellar hypoplasia type A	86823	Malformation syndrome
100012	Lissencephaly with cerebellar hypoplasia type B	86823	Malformation syndrome
100013	Lissencephaly with cerebellar hypoplasia type C	86823	Malformation syndrome
100014	Lissencephaly with cerebellar hypoplasia type D	86823	Malformation syndrome
100015	Lissencephaly with cerebellar hypoplasia type E	86823	Malformation syndrome
100016	Lissencephaly with cerebellar hypoplasia type F	86823	Malformation syndrome
102009	Classic lissencephaly	48471	Clinical group
572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome	102009	Malformation syndrome
2148	Lissencephaly type 1 due to doublecortin gene mutation	102009	Disease
531	Miller-Dieker syndrome	102009, 166469, 261965	Malformation syndrome
1084	Isolated lissencephaly type 1 without known genetic defects	102009	Disease
95232	Lissencephaly due to LIS1 mutation	102009	Disease
102010	Other syndrome with lissencephaly as a major feature	48471	Category
2510	Micro syndrome	102010, 199639, 202948, 269528, 269573, 522548, 98641	Malformation syndrome
2995	Baraitser-Winter cerebrofrontofacial syndrome	102010, 98578	Malformation syndrome
452	X-linked lissencephaly with abnormal genitalia	102010, 423655, 98087	Malformation syndrome
102011	Lissencephaly type 3	48471	Clinical group
2671	Neu-Laxova syndrome	102011, 281238, 281241, 35705, 98563	Malformation syndrome
583607	Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency	2671	Etiological subtype
583612	Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency	2671	Etiological subtype
583602	Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency	2671	Etiological subtype
86821	Lissencephaly type 3-familial fetal akinesia sequence syndrome	102011	Malformation syndrome
86822	Lissencephaly type 3-metacarpal bone dysplasia syndrome	102011	Malformation syndrome
171680	Lissencephaly due to TUBA1A mutation	48471	Malformation syndrome
199639	Syndrome with corpus callosum agenesis/dysgenesis as a major feature	108991	Category
83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	102283, 199639, 269573, 611327	Malformation syndrome
50	Aicardi syndrome	166478, 183422, 199639, 269573, 611314, 716299	Disease
1496	Corpus callosum agenesis-neuronopathy syndrome	102283, 199639, 207012, 269573, 611327	Disease
1495	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	102283, 199639, 269573, 611327	Malformation syndrome
1777	Temtamy syndrome	102283, 199639, 269573, 611327	Malformation syndrome
3338	Toriello-Carey syndrome	102283, 139039, 199639, 269573, 611327	Malformation syndrome
3207	White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome	102283, 199639, 611327	Malformation syndrome
52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	102283, 199639, 269573, 519276, 519345, 611327	Malformation syndrome
171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	102283, 199639, 269573, 611327	Malformation syndrome
275543	L1 syndrome	199639, 269573, 611314	Malformation syndrome
2182	Hydrocephalus with stenosis of the aqueduct of Sylvius	275543	Clinical subtype
2466	MASA syndrome	275543, 98888	Clinical subtype
1497	X-linked complicated corpus callosum dysgenesis	275543	Clinical subtype
306617	X-linked complicated spastic paraplegia type 1	275543	Clinical subtype
423655	ARX-related encephalopathy-brain malformation spectrum	102283, 165707, 182079, 199639, 269573, 611327	Clinical group
2508	Corpus callosum agenesis-abnormal genitalia syndrome	423655	Malformation syndrome
459074	Corpus callosum agenesis-macrocephaly-hypertelorism syndrome	102283, 199639, 269573, 611327	Malformation syndrome
466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	102283, 199639, 269523, 269567, 269573, 611327	Malformation syndrome
457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	102283, 199639, 269567, 611327	Malformation syndrome
467166	Tubulinopathy-associated dysgyria	199639, 269523, 269567, 269573	Disease
694937	Intellectual disability-peripheral neuropathy-corpus callosum abnormalities syndrome due to nudix hydrolase 2 deficiency	102283, 199639, 207025, 269573, 611327	Malformation syndrome
500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	102283, 199639, 611327	Malformation syndrome
447893	Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome	199639, 269573, 289494	Clinical subtype
269523	Syndrome with a cerebellar malformation as a major feature	108991	Category
459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	102283, 253, 269523, 269567, 611327	Malformation syndrome
468699	SLC39A8-CDG	102283, 269523, 269567, 309347, 309851, 611327	Disease
314597	Chudley-McCullough syndrome	269523, 269531, 269567, 90642	Malformation syndrome
443162	NDE1-related microhydranencephaly	269523, 269528, 269531, 269567	Malformation syndrome
2318	Joubert syndrome with oculorenal defect	102283, 140874, 156162, 269523, 269567, 506213, 611327, 716405, 93587	Malformation syndrome
1454	Joubert syndrome with hepatic defect	101939, 102283, 140874, 156162, 156165, 156604, 269523, 269567, 611327	Disease
1532	Gómez-López-Hernández syndrome	102283, 269523	Malformation syndrome
2246	Cerebellar hypoplasia-tapetoretinal degeneration syndrome	269523, 716405	Malformation syndrome
2754	Orofaciodigital syndrome type 6	102283, 140874, 140997, 269523, 269567, 611327, 90642	Malformation syndrome
2941	Porencephaly-cerebellar hypoplasia-internal malformations syndrome	269523	Malformation syndrome
3322	Hoyeraal-Hreidarsson syndrome	269523, 269567, 331217, 611314, 68383	Disease
3469	XK aprosencephaly syndrome	269523	Malformation syndrome
65285	Lhermitte-Duclos disease	251934, 269523, 269567, 306498	Clinical subtype
65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	224, 269523, 269567	Malformation syndrome
85186	Endosteal sclerosis-cerebellar hypoplasia syndrome	269523, 269567, 93444	Malformation syndrome
137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	102283, 166478, 269523, 269567, 611327	Disease
163937	X-linked intellectual disability, Najm type	102283, 269523, 269567, 522548, 611327, 98641	Disease
163961	X-linked cerebral-cerebellar-coloboma syndrome	102283, 269523, 269567, 611327	Disease
220493	Joubert syndrome with ocular defect	102283, 140874, 156165, 269523, 269567, 611327, 716405	Malformation syndrome
220497	Joubert syndrome with renal defect	102283, 140874, 156162, 156180, 269523, 269567, 506213, 611327, 93587	Malformation syndrome
269546	Syndrome with a Dandy-Walker malformation as a major feature	269523	Category
7	3C syndrome	102283, 269546, 269570, 611327	Malformation syndrome
916	Aase-Smith syndrome type 1	102285, 139039, 269546, 269570, 330206	Malformation syndrome
1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome	102283, 269546, 269567, 522520, 611327, 98683	Malformation syndrome
1970	Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome	102283, 269546, 269570, 611327	Malformation syndrome
2218	Cervical hypertrichosis-peripheral neuropathy syndrome	269546, 269570, 79365	Disease
2427	Macrocephaly-short stature-paraplegia syndrome	102283, 269546, 611327	Malformation syndrome
73245	Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome	207012, 269546	Malformation syndrome
79332	B4GALT1-CDG	269546, 269570, 309526, 371047, 371157, 371235	Disease
1566	Dandy-Walker malformation-postaxial polydactyly syndrome	269546, 269570, 294959	Malformation syndrome
370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	269523, 269567, 611314, 98688	Disease
397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	102283, 269523, 269567, 611327	Malformation syndrome
401959	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome	166478, 269523, 269567	Malformation syndrome
444072	Cerebellar-facial-dental syndrome	102283, 164001, 269523, 269567, 420755, 611327	Malformation syndrome
300573	Polymicrogyria due to TUBB2B mutation	102283, 269523, 269531, 269567, 611327	Malformation syndrome
480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	102283, 269523, 269567, 519343, 522508, 611327	Disease
495875	Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome	102283, 165707, 269523, 269567, 611327, 98628	Malformation syndrome
529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	102283, 269523, 269567, 611327	Malformation syndrome
2703	Port-wine nevi-mega cisterna magna-hydrocephalus syndrome	102285, 269523, 269567, 330206, 458830	Malformation syndrome
611223	EN1-related dorsoventral syndrome	269523, 269567, 93438	Malformation syndrome
615954	Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome	269523, 459787, 471383	Clinical syndrome
615983	Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation	615954	Etiological subtype
615986	Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster	261857, 615954	Etiological subtype
693549	Facial dysmorphism-Intellectual disability-rhombencephalosynapsis syndrome	102283, 269523, 611327	Malformation syndrome
269528	Syndrome with microcephaly as a major feature	108991, 269564	Category
572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	102283, 262019, 269528, 611327, 98575, 98578	Malformation syndrome
481152	PYCR2-related microcephaly-progressive leukoencephalopathy	102283, 269528, 611327	Malformation syndrome
3433	Microcephaly-brachydactyly-kyphoscoliosis syndrome	102283, 269528, 498454, 522548, 611327, 98641	Malformation syndrome
1270	Bowen-Conradi syndrome	102283, 269528, 611327	Malformation syndrome
2522	Microcephaly-cervical spine fusion anomalies syndrome	102283, 269528, 611327	Malformation syndrome
2523	Microcephaly-brain defect-spasticity-hypernatremia syndrome	102283, 269528, 611327	Malformation syndrome
2526	Microcephaly-lymphedema-chorioretinopathy syndrome	2416, 269528, 611314, 716342	Malformation syndrome
2528	Microcephaly-microcornea syndrome, Seemanova type	102283, 269528, 522548, 611327, 98641	Malformation syndrome
99742	Amish lethal microcephaly	269528, 298644	Malformation syndrome
293967	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome	181387, 269528, 90642	Malformation syndrome
294016	Microcephaly-capillary malformation syndrome	211247, 269528, 458830	Malformation syndrome
306558	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome	166478, 181381, 183625, 269528	Disease
313795	Jawad syndrome	102283, 269528, 611327	Malformation syndrome
324761	Microcephalic primordial dwarfism	102283, 269528, 611327	Clinical group
808	Seckel syndrome	324761, 93440	Malformation syndrome
2554	Ear-patella-short stature syndrome	139036, 183576, 324761, 93440, 93455	Malformation syndrome
2643	Microcephalic primordial dwarfism, Toriello type	324761, 522548, 93440, 98641	Malformation syndrome
2636	Microcephalic osteodysplastic primordial dwarfism types I and III	324761, 93440, 98638	Malformation syndrome
2637	Microcephalic osteodysplastic primordial dwarfism type II	240371, 324761, 477771, 93440	Malformation syndrome
85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	324761, 522548, 93440, 98641	Disease
319671	Alazami syndrome	324761	Malformation syndrome
319675	Microcephalic primordial dwarfism, Dauber type	324761	Malformation syndrome
329228	Microcephalic primordial dwarfism due to ZNF335 deficiency	324761	Malformation syndrome
468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	324761	Malformation syndrome
658595	DNMT3A-related microcephalic dwarfism	324761	Malformation syndrome
572761	DONSON-related microcephaly-short stature-limb abnormalities spectrum	139021, 183570, 324761, 93440	Malformation syndrome
572768	Microcephaly-micromelia syndrome	572761	Clinical subtype
572773	Microcephaly-short stature-limb abnormalities syndrome	572761	Clinical subtype
329332	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome	102283, 269528, 611327	Malformation syndrome
391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	102283, 181376, 183625, 269528, 611327	Disease
402364	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	269528	Malformation syndrome
404437	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome	166478, 269528	Malformation syndrome
434179	Orofaciodigital syndrome type 14	102283, 140997, 269528, 611327	Malformation syndrome
477814	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	269528, 331217, 519343, 522508, 611314	Malformation syndrome
662762	Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome	102283, 269528, 611327	Malformation syndrome
662179	Microcephaly-hearing loss-facial dysmorphism-intellectual disability syndrome	102283, 269528, 611327, 90642	Malformation syndrome
664923	Congenital arthrogryposis-microcephaly-facial dysmorphism-severe neurodevelopmental delay syndrome	102283, 1037, 269528, 611327	Malformation syndrome
659642	Rauch-Steindl syndrome	102283, 139021, 183570, 269528, 611327	Malformation syndrome
684240	Neurodevelopmental disorder-spasticity-movement disorder-epileptic syndrome	166472, 269528, 494457, 496916, 611314	Malformation syndrome
699844	Microcephaly-corpus callosum hypoplasia-simplified gyral pattern-intellectual disability syndrome	102283, 269528, 611327	Malformation syndrome
633035	Intellectual disability-early-onset cataract-microcephaly syndrome	102283, 269528, 611327, 98641	Malformation syndrome
269531	Other syndrome with a central nervous system malformation as a major feature	108991	Category
529574	Duane retraction syndrome with congenital deafness	269531, 269564, 519341, 522506, 90642	Malformation syndrome
2744	Horizontal gaze palsy with progressive scoliosis	269531, 269564, 522520, 93454, 98683	Disease
3176	Spina bifida-hypospadias syndrome	165707, 269531	Malformation syndrome
1647	Oculocerebrocutaneous syndrome	166478, 202948, 269531	Malformation syndrome
2065	Galloway-Mowat syndrome	102283, 269531, 567562, 611327	Malformation syndrome
2184	Hydrocephaly-low insertion umbilicus syndrome	269531, 269564	Malformation syndrome
2165	Holoprosencephaly-caudal dysgenesis syndrome	269531	Malformation syndrome
2189	Hydrolethalus	139039, 269531, 269564, 363250	Malformation syndrome
2351	Kousseff syndrome	269531	Malformation syndrome
2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	269531, 459787, 471383	Malformation syndrome
3157	Septo-optic dysplasia spectrum	137905, 269531, 269564, 441434, 611314, 95495	Malformation syndrome
63862	Schisis association	269531	Malformation syndrome
66625	Cerebrooculonasal syndrome	102283, 269531, 269564, 611327	Malformation syndrome
210548	Macrocephaly-intellectual disability-autism syndrome	102283, 180772, 269531, 269564, 611327	Disease
221126	Fowler vasculopathy	269531, 269564	Malformation syndrome
247198	Progressive cerebello-cerebral atrophy	269531, 269564	Disease
250972	Polymicrogyria with optic nerve hypoplasia	102283, 137905, 166478, 269531, 269564, 611327	Malformation syndrome
251383	CK syndrome	269531, 269564, 611314, 79195	Malformation syndrome
306547	Porencephaly-microcephaly-bilateral congenital cataract syndrome	269531, 269564	Malformation syndrome
314993	Cataract-congenital heart disease-neural tube defect syndrome	269531, 269564, 522548, 98641	Malformation syndrome
356961	SLC35A2-CDG	269531, 269564, 309526, 371071, 371235, 611314	Disease
443988	Ventriculomegaly-cystic kidney disease	269531, 506213, 93587	Disease
2117	Hartsfield syndrome	102283, 139039, 269531, 269564, 498477, 611327	Malformation syndrome
500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	102283, 269531, 269564, 611327, 90642	Malformation syndrome
500150	ZTTK syndrome	102283, 269531, 269564, 611327	Malformation syndrome
1861	Thoracic dysplasia-hydrocephalus syndrome	182108, 269531, 269564, 93426	Malformation syndrome
544469	PRUNE1-related neurological syndrome	102283, 269531, 269564, 611327	Malformation syndrome
610569	KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome	102283, 1037, 269531, 269564, 611327	Disease
664410	Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome	102283, 269531, 611327	Malformation syndrome
228384	5q14.3 microdeletion syndrome	166469, 262038, 664410	Etiological subtype
664416	Brain abnormalities-severe developmental delay-facial dysmorphism-intellectual disability syndrome due to MEF2C mutation	664410	Etiological subtype
662189	Neurodevelopmental disorder-brain malformation-facial dysmorphism-brachydactyly syndrome	102283, 269531, 611327	Malformation syndrome
662207	Neurodevelopmental delay-brain malformations-skeletal defects-intellectual disability syndrome	102283, 269531, 611327	Malformation syndrome
659609	Facial dysmorphism-global developmental delay-hypotonia-polymicrogyria syndrome	102283, 269531, 611327	Malformation syndrome
603448	Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	102283, 269531, 269564, 611327	Malformation syndrome
98045	Respiratory or mediastinal malformation	93890	Category
108993	Non-syndromic respiratory or mediastinal malformation	183554, 97962, 98045	Category
2414	Congenital pulmonary lymphangiectasia	108993, 182111, 264683, 264992	Disease
2444	Congenital pulmonary airway malformation	108993, 182111	Malformation syndrome
280827	Congenital pulmonary airway malformation type 0	2444	Clinical subtype
280832	Congenital pulmonary airway malformation type 1	2444	Clinical subtype
280840	Congenital pulmonary airway malformation type 2	2444	Clinical subtype
280847	Congenital pulmonary airway malformation type 3	2444	Clinical subtype
280854	Congenital pulmonary airway malformation type 4	2444	Clinical subtype
3346	Tracheal agenesis	108993, 156252, 182111	Morphological anomaly
984	Pulmonary agenesis	108993, 182111	Morphological anomaly
1928	Congenital lobar emphysema	108993, 182111, 183622	Morphological anomaly
2257	Primary pulmonary hypoplasia	108993, 182111, 183622	Morphological anomaly
2038	Pulmonary arteriovenous malformation	101944, 108993, 182111, 693855	Morphological anomaly
3161	Congenital pulmonary sequestration	108993, 182111	Malformation syndrome
280802	Intralobar congenital pulmonary sequestration	3161	Clinical subtype
280811	Extralobar congenital pulmonary sequestration	3161	Clinical subtype
280821	Communicating congenital bronchopulmonary-foregut malformation	3161	Clinical subtype
70589	Bronchopulmonary dysplasia	108993, 182111	Malformation syndrome
95430	Congenital tracheomalacia	108993, 156252, 182111, 435612	Morphological anomaly
411501	Williams-Campbell syndrome	108993, 182111	Morphological anomaly
700286	Congenital high airway obstruction syndrome	108993, 182111	Clinical syndrome
649014	Bronchial malformation	108993, 182111	Clinical group
648992	Non-syndromic bridging bronchus	649014	Morphological anomaly
649010	Non-syndromic congenital bronchial atresia	649014	Morphological anomaly
649029	Isolated left bronchial isomerism	649014	Morphological anomaly
2357	Bronchogenic cyst	649014	Morphological anomaly
108995	Syndromic respiratory or mediastinal malformation	97962, 98045	Category
994	Fetal akinesia deformation sequence	102285, 1037, 108993, 108995, 182108, 330206	Malformation syndrome
1120	Lung agenesis-heart defect-thumb anomalies syndrome	108993, 108995, 182111, 183622	Malformation syndrome
1486	Lethal congenital contracture syndrome type 1	102285, 108993, 108995, 182108, 294965, 330206	Malformation syndrome
2407	Laryngo-onycho-cutaneous syndrome	108993, 108995, 182111, 183622, 305, 522542, 98027, 98610	Disease
3035	Growth delay-hydrocephaly-lung hypoplasia syndrome	108995, 182111, 183622	Malformation syndrome
98196	Malformation syndrome with hamartosis	183530, 93890	Category
892	Von Hippel-Lindau disease	100091, 100094, 156162, 183503, 252190, 319328, 71281, 93587, 98196, 98638	Disease
377	Gorlin syndrome	140162, 183487, 252190, 79386, 98027, 98196	Malformation syndrome
2869	Peutz-Jeghers syndrome	104010, 183422, 183466, 271835, 363314, 589746, 79375, 98196	Disease
774	Hereditary hemorrhagic telangiectasia	101938, 102006, 139027, 182111, 182222, 183478, 183622, 211266, 371436, 459526, 79379, 98196, 98610	Disease
1775	Dyskeratosis congenita	140162, 183466, 222628, 331217, 519274, 611314, 68383, 79373, 79375, 98196	Disease
2612	Linear nevus sebaceus syndrome	294057, 622914, 98196	Disease
3205	Sturge-Weber syndrome	102006, 156237, 166466, 166487, 211247, 458830, 611314, 693802, 716459, 717348, 79379, 93460, 98196, 98638	Malformation syndrome
805	Tuberous sclerosis complex	156162, 166466, 180772, 183422, 183481, 183487, 252190, 319328, 506213, 568047, 611314, 79380, 79386, 93587, 98196	Disease
1062	Hereditary neurocutaneous malformation	102006, 166487, 371436, 459543, 673470, 98196	Disease
2092	Focal dermal hypoplasia	102283, 183481, 519292, 522554, 611327, 79373, 79380, 98196, 98655	Malformation syndrome
296	Ollier disease	140162, 183527, 68411, 93450, 93460, 98196	Disease
2874	Phakomatosis pigmentokeratotica	294057, 622914, 98196	Malformation syndrome
2875	Phakomatosis pigmentovascularis	183466, 211247, 79375, 98196, 98638	Disease
79483	Phakomatosis cesioflammea	2875	Clinical subtype
79484	Phakomatosis cesiomarmorata	2875	Clinical subtype
79485	Phakomatosis spilorosea	2875	Clinical subtype
64755	Becker nevus syndrome	180173, 294057, 622914, 98196	Disease
93921	Full schwannomatosis	183466, 506213, 634518, 79375, 98196	Disease
163634	Maffucci syndrome	140162, 183478, 183527, 211252, 459537, 68411, 79379, 93450, 93460, 98196	Disease
276280	Hemihyperplasia-multiple lipomatosis syndrome	156237, 183487, 458830, 530313, 79386, 98196	Malformation syndrome
306498	PTEN hamartoma tumor syndrome	183422, 183487, 79386, 98196	Disease
201	Cowden syndrome	104010, 271835, 294057, 306498, 589746, 622914	Clinical subtype
109	Bannayan-Riley-Ruvalcaba syndrome	102283, 104010, 211277, 306498, 363314, 459537, 611327, 93460	Clinical subtype
2969	Proteus-like syndrome	294057, 306498, 519286, 522548, 522568, 622914, 98641	Clinical subtype
137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	211277, 294057, 306498, 459537, 622914, 93460	Clinical subtype
90308	Capillary-lymphatic-venous malformation with segmental distribution	183478, 211252, 459537, 715460, 79379, 98196	Disease
98553	Developmental defect of the eye	93890	Category
83461	Congenital primary aphakia	183557, 183607, 98553, 98639	Malformation syndrome
137905	Syndromic optic nerve hypoplasia	183557, 519351, 522512, 98553	Category
603494	Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome	137905, 202948, 2781, 284811, 90642	Malformation syndrome
519333	Congenital optic disc excavation	519351, 98553	Category
519400	Peripapillary staphyloma	519333	Morphological anomaly
519404	Optic disc pit	519333	Morphological anomaly
98947	Coloboma of optic disc	519333, 522514	Morphological anomaly
464760	Familial cavitary optic disc anomaly	519333, 522514	Morphological anomaly
35737	Morning glory disc anomaly	519333, 522514, 522520, 98683	Morphological anomaly
519402	Isolated megalopapilla	519333	Morphological anomaly
519345	Rare disorder with optic disc malformation	183557, 519351, 522512, 98553	Category
324737	SRD5A3-CDG	309526, 371047, 371200, 519345, 611314	Disease
435930	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome	519345	Disease
98560	Rare palpebral disorder	519266, 98553	Category
98561	Congenital malformation of the eyelid	522526, 98560	Category
98562	Cryptophthalmia	98561	Category
91396	Isolated cryptophthalmia	98562	Morphological anomaly
98948	Congenital symblepharon	91396	Clinical subtype
98949	Complete cryptophthalmia	91396	Clinical subtype
98950	Partial cryptophthalmia	91396	Clinical subtype
98563	Microblepharon-ablephara syndrome	98561	Clinical group
920	Ablepharon macrostomia syndrome	102283, 139039, 611327, 98563	Malformation syndrome
98564	Eyelid border anomaly	98561	Category
91397	Isolated ankyloblepharon filiforme adnatum	156237, 98564	Morphological anomaly
98565	Syndromic ankyloblepharon filiforme adnatum	98564	Category
294963	Popliteal pterygium syndrome	109007, 156237, 98565	Clinical group
1234	Bartsocas-Papas syndrome	294963, 459787, 471383, 79373, 98566	Malformation syndrome
1300	Autosomal dominant popliteal pterygium syndrome	102283, 294963, 611327	Malformation syndrome
1071	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	156237, 294955, 404574, 79373, 98565	Malformation syndrome
1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome	1071	Clinical subtype
1074	Ankyloblepharon filiforme adnatum-imperforate anus syndrome	1071	Clinical subtype
1791	Frontofacionasal dysplasia	102285, 139036, 141234, 183576, 250, 330206, 98565, 98566	Malformation syndrome
85275	Microphthalmia-ankyloblepharon-intellectual disability syndrome	102283, 202948, 611327, 98565	Malformation syndrome
98566	Syndromic eyelid coloboma	98564	Category
861	Treacher-Collins syndrome	102285, 138050, 139036, 155899, 183576, 330206, 522520, 90642, 98566, 98576, 98578, 98683	Malformation syndrome
245	Nager syndrome	102285, 138050, 139036, 183576, 330206, 364574, 98566, 98576	Malformation syndrome
246	Postaxial acrofacial dysostosis	102285, 139036, 156237, 183576, 330206, 364574, 98566, 98571	Malformation syndrome
2399	Nasopalpebral lipoma-coloboma syndrome	102285, 330206, 98566	Malformation syndrome
2717	Oculotrichoanal syndrome	102285, 330206, 98566	Malformation syndrome
98946	Coloboma of eyelid	98564	Morphological anomaly
99176	Congenital eyelid retraction	98561	Morphological anomaly
98567	Rare eyelid malposition disorder	98560	Category
98578	Rare disorder with ptosis	522528, 98567	Category
596	X-linked centronuclear myopathy	207110, 595, 611314, 98578	Disease
2308	Jacobsen syndrome	262092, 331220, 477794, 98578	Malformation syndrome
606	Proximal myotonic myopathy	181441, 206647, 522548, 98578, 98641	Disease
270	Oculopharyngeal muscular dystrophy	206644, 519347, 522522, 98578	Disease
1876	Oculogastrointestinal muscular dystrophy	104009, 519347, 522522, 98578	Disease
127	Borjeson-Forssman-Lehmann syndrome	102283, 166472, 240371, 611327, 98578	Malformation syndrome
1323	Camptodactyly-joint contractures-facial skeletal defects syndrome	102285, 330206, 364568, 98578	Malformation syndrome
2057	Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome	102285, 330206, 522520, 98578, 98683	Malformation syndrome
2980	Acrootoocular syndrome	519339, 98578	Malformation syndrome
2997	Ptosis-vocal cord paralysis syndrome	98578	Malformation syndrome
2999	Ptosis-strabismus-ectopic pupils syndrome	519286, 522520, 522568, 98578, 98683	Malformation syndrome
663	Mitochondrial DNA-related progressive external ophthalmoplegia	206966, 254767, 520820, 68385, 98578	Disease
298	Mitochondrial neurogastrointestinal encephalomyopathy	104013, 206966, 225700, 225703, 352456, 519347, 522522, 611314, 79193, 98578	Disease
590	Congenital myasthenic syndrome	519347, 522522, 98495, 98578	Disease
716913	Ubiquitously expressed proteins associated congenital myasthenic syndrome	590	Etiological subtype
353327	Congenital myasthenic syndrome with glycosylation defect	309347, 371047, 716913	Etiological subtype
716917	Congenital myasthenic syndrome with mitochondrial defect	716913	Etiological subtype
98913	Postsynaptic congenital myasthenic syndrome	590, 98738	Etiological subtype
716742	Congenital myasthenic syndrome with kinetic defect	98913	Etiological subtype
716758	Fast-channel congenital myasthenic syndrome	716742	Etiological subtype
716765	Slow-channel congenital myasthenic syndrome	716742	Etiological subtype
716772	Congenital myasthenic syndrome with kinetic defect due to reduced ion channel conductance	716742	Etiological subtype
716816	Congenital myasthenic syndrome with primary acetylcholine receptor deficiency	98913	Etiological subtype
716881	Congenital myasthenic syndrome due to a sodium channel 1.4 defect	98913	Etiological subtype
716825	Congenital myasthenic syndrome due to defects in endplate development and maintenance	98913	Etiological subtype
98914	Presynaptic congenital myasthenic syndromes	590, 611314	Etiological subtype
716899	Congenital myasthenic syndrome due to defective synaptic vesicles exocytosis	98914	Etiological subtype
716908	Autosomal dominant congenital myasthenic syndromes due to defective synaptic vesicles exocytosis	716899	Etiological subtype
716903	Autosomal recessive congenital myasthenic syndrome due to defective synaptic vesicles exocytosis	716899	Etiological subtype
716889	Congenital myasthenic syndromes due to defective axonal transport	98914	Etiological subtype
716893	Congenital myasthenic syndrome due to defective synthesis or recycling of acetylcholine	98914	Etiological subtype
98915	Synaptic congenital myasthenic syndrome	590	Etiological subtype
230	Dopamine beta-hydroxylase deficiency	182058, 309830, 448426, 68385, 98578	Disease
45358	Congenital fibrosis of extraocular muscles	206644, 522520, 98578, 98683	Disease
46627	Char syndrome	102283, 611327, 98578	Malformation syndrome
91412	Marcus-Gunn syndrome	98578	Disease
98951	Inverse Marcus-Gunn phenomenon	91412	Clinical subtype
101104	Marin-Amat syndrome	91412	Clinical subtype
91413	Congenital Horner syndrome	519286, 522568, 98578	Disease
98897	Oculopharyngodistal myopathy	206644, 206650, 206653, 519347, 522522, 98578	Disease
228396	Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome	519274, 98578	Malformation syndrome
126	Blepharophimosis-ptosis-epicanthus inversus syndrome	98575, 98578	Malformation syndrome
572354	Blepharophimosis-ptosis-epicanthus inversus syndrome type 1	126, 399853, 400022, 485382, 95710	Clinical subtype
572361	Blepharophimosis-ptosis-epicanthus inversus syndrome type 2	126	Clinical subtype
293642	Blepharophimosis-intellectual disability syndrome	102283, 611327, 98578	Clinical group
637013	SMARCA2-related blepharophimosis-intellectual disability syndrome	293642	Malformation syndrome
1620	Distal deletion 3p syndrome	261875, 293642	Malformation syndrome
2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	293642	Malformation syndrome
3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	177107, 293642, 597749	Malformation syndrome
293707	Blepharophimosis-intellectual disability syndrome, MKB type	293642	Malformation syndrome
293725	Blepharophimosis-intellectual disability syndrome, Verloes type	293642	Malformation syndrome
700160	ADNP-related blepharophimosis-intellectual disability syndrome	293642	Disease
91411	Congenital ptosis	98578	Disease
502430	Weiss-Kruszka Syndrome	102283, 611327, 98578	Malformation syndrome
99169	Epiblepharon	522528, 98567	Morphological anomaly
99172	Euryblepharon	522528, 98567	Morphological anomaly
519268	Rare disorder with ectropion	522528, 98567	Category
98570	Congenital ectropion	519268	Category
1997	Blepharo-cheilo-odontic syndrome	102285, 139039, 139042, 183580, 330206, 79373, 98570	Malformation syndrome
99171	Isolated congenital ectropion	98570	Morphological anomaly
357158	Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome	139036, 155899, 183576, 98570	Disease
98571	Secondary ectropion	519268	Category
1231	Barber-Say syndrome	102285, 330206, 79365, 79373, 98571	Malformation syndrome
2269	Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome	281238, 611314, 79373, 98571	Disease
910	Xeroderma pigmentosum	139027, 139033, 183422, 183490, 363245, 519270, 522530, 522548, 611314, 79390, 98097, 98571, 98641	Disease
90342	Xeroderma pigmentosum variant	139027, 139033, 183422, 183490, 363245, 519270, 522530, 79390, 98571	Disease
220295	Xeroderma pigmentosum-Cockayne syndrome complex	139027, 139033, 183422, 183490, 363245, 519270, 522530, 611314, 716405, 79389, 79390, 90642, 98097, 98571	Disease
281097	Autosomal recessive congenital ichthyosis	281082, 98571	Clinical group
281127	Acral self-healing collodion baby	281097	Disease
281122	Self-improving collodion baby	281097	Disease
457	Harlequin ichthyosis	281097	Disease
79394	Congenital ichthyosiform erythroderma	281097	Disease
100976	Bathing suit ichthyosis	281097	Disease
313	Lamellar ichthyosis	281097	Disease
289586	Exfoliative ichthyosis	250811, 281097	Disease
519270	Rare disorder with entropion	98567	Category
99170	Tarsal kink syndrome	519270, 522530	Morphological anomaly
519386	Isolated congenital entropion	519270	Morphological anomaly
519390	Isolated blepharochalasis	98567	Disease
1253	Ascher syndrome	102285, 139027, 330206, 522528, 98567	Malformation syndrome
46486	Mucous membrane pemphigoid	79669, 98567	Disease
98574	Syndromic epicanthus	522528, 98567	Category
1705	Distal duplication 14q syndrome	262941, 98574	Malformation syndrome
281	Monosomy 5p syndrome	261893, 98574, 98642	Malformation syndrome
1587	Monosomy 13q14 syndrome	262101, 98574, 98642	Malformation syndrome
559	Marinesco-Sjögren syndrome	207028, 522520, 522548, 611314, 98098, 98574, 98641, 98683	Disease
48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	102283, 140459, 207028, 522548, 611327, 98098, 98574, 98641	Malformation syndrome
98575	Syndromic telecanthus	522528, 98567	Category
894	Waardenburg syndrome type 1	3440, 98575	Clinical subtype
896	Waardenburg syndrome type 3	3440, 98575	Clinical subtype
2707	Oculocerebrofacial syndrome, Kaufman type	102283, 611327, 98575	Malformation syndrome
98576	Syndromic outer canthal malposition	522528, 98567	Category
98594	Rare eyebrow/eyelash disorder	183557, 519266, 522524, 98553	Category
33001	Lymphedema-distichiasis syndrome	289825, 522548, 98594, 98641	Malformation syndrome
99177	Isolated distichiasis	98594	Morphological anomaly
98605	Lacrimal drainage system anomaly	98553, 98602	Category
141083	Nasolacrimal duct cyst	156246, 98605	Morphological anomaly
451612	Familial congenital nasolacrimal duct obstruction	156246, 435606, 522534, 98605	Morphological anomaly
519274	Syndromic lacrimal system disorder	522534, 98605	Category
98606	Syndromic orbital border hypoplasia	519274	Malformation syndrome
519272	Structural developmental eye defect	520814, 98553	Category
2484	Melnick-Needles syndrome	102285, 330206, 364541, 519272, 519296, 522536	Malformation syndrome
98555	Microphthalmia-anophthalmia-coloboma	519272, 522536	Category
2542	Isolated microphthalmia-anophthalmia-coloboma	98555	Clinical group
35612	Nanophthalmos	2542, 522520, 525677, 98631, 98683	Malformation syndrome
98938	Colobomatous microphthalmia	2542	Malformation syndrome
202948	Syndromic microphthalmia-anophthalmia-coloboma	98555	Category
568	Microphthalmia, Lenz type	102283, 202948, 611327, 98655	Malformation syndrome
1106	Microphthalmia with limb anomalies	102283, 202948, 611327	Malformation syndrome
1466	COFS syndrome	191, 202948, 98649	Clinical subtype
1806	Ectodermal dysplasia-blindness syndrome	202948, 79373	Malformation syndrome
2712	Oculofaciocardiodental syndrome	102283, 139042, 183580, 202948, 522548, 611327, 98638, 98641	Malformation syndrome
3434	MMEP syndrome	102283, 202948, 611327	Malformation syndrome
77299	Microphthalmia-brain atrophy syndrome	102283, 182070, 183500, 202948, 611327	Malformation syndrome
139471	Microphthalmia with brain and digit anomalies	102283, 202948, 522548, 611327, 98641	Malformation syndrome
157962	Oculoauricular syndrome, Schorderet type	202948	Malformation syndrome
178364	Syndromic microphthalmia type 5	202948	Malformation syndrome
251279	Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome	202948, 716405	Disease
363741	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome	102283, 202948, 240371, 611327	Disease
424099	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	139021, 183570, 202948, 93438	Malformation syndrome
431140	X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome	102283, 139021, 183570, 202948, 611327	Malformation syndrome
2432	Macrosomia-microphthalmia-cleft palate syndrome	139039, 202948, 459787, 471383	Malformation syndrome
2547	Microphthalmia-microtia-fetal akinesia syndrome	1037, 202948, 459787, 471383	Malformation syndrome
466682	Euthyroid Graves orbitopathy	519272	Disease
468672	Colobomatous macrophthalmia-microcornea syndrome	519272, 522536	Disease
659904	Multiple congenital anomalies-neurodevelopmental delay-ocular abnormalities syndrome	102283, 519272, 522536, 611327	Malformation syndrome
519384	Congenital cystic eye	519272	Morphological anomaly
363396	High myopia-sensorineural deafness syndrome	519272, 522536, 90642	Disease
88632	Anterior segment developmental anomaly	183557, 519284, 522538, 98553	Category
98634	Anterior segment developmental anomaly without extraocular manifestations	522540, 525677, 88632, 98631	Category
69736	Bilateral acute depigmentation of the iris	98634	Disease
98978	Axenfeld anomaly	98634	Morphological anomaly
250923	Isolated aniridia	522548, 98634, 98641	Morphological anomaly
519388	Autosomal recessive anterior segment dysgenesis	98634	Malformation syndrome
708	Peters anomaly	98634	Morphological anomaly
91483	Rieger anomaly	98634	Morphological anomaly
566	Congenital microcoria	98634	Malformation syndrome
91491	Congenital ectropion uveae	98634	Malformation syndrome
98944	Coloboma of iris	98634	Morphological anomaly
488197	Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome	716405, 98634	Disease
519392	Isolated iridoschisis	98634	Disease
519276	Anterior segment developmental anomaly with extraocular manifestations	522540, 88632	Category
139450	Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome	519276, 716299	Malformation syndrome
1473	Uveal coloboma-cleft lip and palate-intellectual disability	102283, 139039, 519276, 611327	Malformation syndrome
2090	GMS syndrome	102283, 519276, 611327	Malformation syndrome
2670	Pierson syndrome	519276, 567562	Malformation syndrome
3163	SHORT syndrome	102283, 139021, 139033, 181368, 183570, 363245, 519276, 519286, 522568, 611327, 98305, 98622, 98638	Malformation syndrome
96125	Distal deletion 6p syndrome	102283, 261902, 519276, 611327, 98638	Malformation syndrome
98557	Syndromic aniridia	519276	Category
1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	611314, 98557	Malformation syndrome
1069	Aniridia-absent patella syndrome	98557, 98638	Malformation syndrome
1067	Aniridia-ptosis-intellectual disability-familial obesity syndrome	102283, 519286, 522568, 611327, 98557	Malformation syndrome
1068	Aniridia-intellectual disability syndrome	102283, 519292, 522548, 522554, 611327, 98557, 98641	Malformation syndrome
2321	Jung syndrome	177107, 519276	Malformation syndrome
91492	Early onset non-syndromic cataract	183557, 522546, 98553, 98640	Disease
98992	Early-onset partial cataract	91492	Clinical subtype
98984	Pulverulent cataract	98992	Clinical subtype
98988	Early-onset anterior polar cataract	98992	Clinical subtype
98990	Coralliform cataract	98992	Clinical subtype
98993	Early-onset posterior polar cataract	98992	Clinical subtype
98995	Early-onset zonular cataract	98992	Clinical subtype
98985	Early-onset sutural cataract	98995	Clinical subtype
98991	Early-onset nuclear cataract	98995	Clinical subtype
441452	Early-onset lamellar cataract	98995	Clinical subtype
98989	Cerulean cataract	98992	Clinical subtype
441447	Early-onset posterior subcapsular cataract	98992	Clinical subtype
98994	Total early-onset cataract	91492	Clinical subtype
98652	Lens size anomaly	98553, 98639	Category
519294	Syndromic microspherophakia	522550, 98652	Category
2551	Microspherophakia-metaphyseal dysplasia syndrome	519292, 519294, 522548, 522554, 98641	Malformation syndrome
3449	Weill-Marchesani syndrome	102285, 330206, 519292, 519294, 522554, 93436, 98638	Malformation syndrome
85194	Spondylo-ocular syndrome	102283, 519294, 522548, 611327, 716446, 93446, 98641	Malformation syndrome
363992	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome	139027, 281244, 519294	Disease
3086	Autosomal dominant vitreoretinochoroidopathy	519294, 716441	Disease
2084	Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome	519292, 519294, 522554	Malformation syndrome
519396	Isolated microspherophakia	98652	Morphological anomaly
98653	Lens position anomaly	98553, 98639	Category
1885	Isolated ectopia lentis	284993, 522552, 98653	Malformation syndrome
519292	Syndromic ectopia lentis	98653	Category
231736	Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome	519292	Malformation syndrome
558	Marfan syndrome	139030, 284993, 285014, 498448, 519292, 522554, 522564, 98623	Disease
284963	Marfan syndrome type 1	558	Clinical subtype
284973	Marfan syndrome type 2	558	Clinical subtype
171844	Blindness-scoliosis-arachnodactyly syndrome	139030, 519292, 522554, 716405	Malformation syndrome
412022	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	519292, 522554	Malformation syndrome
1259	Blepharoptosis-myopia-ectopia lentis syndrome	519292, 522554, 98638	Disease
2325	Epidermolysis bullosa simplex with anodontia/hypodontia	519292, 522554, 595351, 98027	Malformation syndrome
394	Homocystinuria due to cystathionine beta-synthase deficiency	139009, 225689, 519292, 522554, 611314, 68385, 79173, 98638, 98644	Disease
833	Encephalopathy due to sulfite oxidase deficiency	139009, 225689, 519292, 522554, 611314, 68385, 79173	Disease
99731	Isolated sulfite oxidase deficiency	833	Clinical subtype
99732	Sulfite oxidase deficiency due to molybdenum cofactor deficiency	309833, 833	Clinical subtype
308386	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	99732	Etiological subtype
308393	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	99732	Etiological subtype
308400	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	99732	Etiological subtype
560	Marshall syndrome	102285, 253, 330206, 519292, 522548, 522554, 79373, 93422, 98638, 98641	Malformation syndrome
98655	Lens shape anomaly	183557, 183607, 98553, 98639	Category
63	Alport syndrome	544590, 716427, 90642, 98646, 98655	Disease
88917	X-linked Alport syndrome	63	Clinical subtype
88918	Autosomal dominant Alport syndrome	63	Clinical subtype
88919	Autosomal recessive Alport syndrome	63	Clinical subtype
1018	X-linked Alport syndrome-diffuse leiomyomatosis	263756, 63	Clinical subtype
653722	Digenic Alport syndrome	63	Clinical subtype
98943	Coloboma of eye lens	183557, 183607, 98553, 98639	Morphological anomaly
53691	Congenital cornea plana	183557, 519282, 522556, 98553, 98621	Morphological anomaly
98635	Corneodysgenesis	183557, 519282, 522556, 98553	Category
91489	Isolated congenital megalocornea	98635	Morphological anomaly
91490	Isolated congenital sclerocornea	98635	Morphological anomaly
98942	Coloboma of choroid and retina	183557, 716296, 717311, 98553	Morphological anomaly
1471	Coloboma of macula-brachydactyly type B syndrome	183557, 716422, 98553	Malformation syndrome
91494	Macular coloboma-cleft palate-hallux valgus syndrome	139039, 183557, 716427, 98553	Malformation syndrome
98945	Coloboma of macula	183557, 716419, 717330, 98553	Morphological anomaly
156005	Primary early-onset glaucoma	183557, 359, 523000, 98553	Clinical group
98976	Congenital glaucoma	156005	Disease
98977	Juvenile glaucoma	156005	Disease
98631	Congenital malformation of the eye with glaucoma as a major feature	519331, 98553	Category
190	Coats disease	183503, 522520, 525677, 71281, 716459, 717348, 98631, 98683	Disease
64734	Iridocorneal endothelial syndrome	525677, 98631	Disease
98979	Chandler syndrome	64734	Clinical subtype
98980	Cogan-Reese syndrome	64734	Clinical subtype
98981	Essential iris atrophy	64734	Clinical subtype
94058	Neovascular glaucoma	98631	Particular clinical situation in a disease or syndrome
238763	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea	525677, 98631	Malformation syndrome
792	X-linked retinoschisis	522548, 525677, 716367, 716432, 717336, 98631, 98641	Malformation syndrome
98973	Posterior polymorphous corneal dystrophy	525677, 98627, 98631	Disease
637064	Isolated optic nerve aplasia	183557, 519351, 522512, 98553	Morphological anomaly
716213	Rare isolated developmental choroidal disorder	519309, 98553	Category
209956	Idiopathic uveal effusion syndrome	280898, 716213	Disease
674958	Stellate multiform amelanotic choroidopathy	716213	Disease
674943	Isolated angioid streaks	716213	Disease
714138	Circumscribed choroidal hemangioma	673470, 716201, 98553	Disease
637061	Isolated optic nerve hypoplasia	183557, 519351, 522512, 98553	Morphological anomaly
139009	Developmental anomaly of metabolic origin	183530, 93890	Category
585	Multiple sulfatase deficiency	139009, 281241, 371442, 68385, 79225, 93448, 98644	Disease
436	Hypophosphatasia	139009, 93447	Disease
247623	Perinatal lethal hypophosphatasia	436	Clinical subtype
247676	Adult hypophosphatasia	436, 98027	Clinical subtype
247685	Odontohypophosphatasia	436, 98027	Clinical subtype
912	Zellweger syndrome	102283, 139009, 225686, 506213, 611327, 79189, 93593, 98650	Disease
772	Infantile Refsum disease	139009, 225686, 79189, 98096	Disease
79195	Sterol biosynthesis disorder	139009, 79226	Category
139	CHILD syndrome	102285, 139027, 281210, 294057, 330206, 622914, 79195, 93442	Disease
35173	X-linked dominant chondrodysplasia punctata	176, 281210, 79195, 98648	Disease
46059	Lathosterolosis	102283, 611327, 79195, 98644	Disease
309025	Mevalonate kinase deficiency	290842, 324924, 622720, 79195	Disease
29	Mevalonic aciduria	309025, 611314, 98644	Clinical subtype
343	Hyperimmunoglobulinemia D with periodic fever	290839, 309025	Clinical subtype
488168	Microcephaly-congenital cataract-psoriasiform dermatitis syndrome	183426, 522548, 79195, 79359, 98641	Malformation syndrome
1426	Greenberg dysplasia	79195, 93442	Disease
35107	Desmosterolosis	102283, 611327, 79195, 93443	Disease
401973	MEND syndrome	102283, 611327, 79195	Malformation syndrome
79212	Mucolipidosis	139009, 309279	Category
576	Mucolipidosis type II	102283, 611327, 79212, 93448	Disease
577	Mucolipidosis type III	79212, 93448	Disease
423461	Mucolipidosis type III alpha/beta	577	Clinical subtype
423470	Mucolipidosis type III gamma	577	Clinical subtype
578	Mucolipidosis type IV	225681, 522520, 611314, 716405, 79212, 98683	Disease
87876	Sialidosis type 2	102283, 139009, 309294, 611327, 93448, 93593	Disease
93399	Juvenile sialidosis type 2	87876	Clinical subtype
93400	Congenital sialidosis type 2	87876	Clinical subtype
97593	Pseudohypoparathyroidism	139009, 181405, 183592, 208593, 93603	Category
457062	Pseudohypoparathyroidism without Albright hereditary osteodystrophy	97593	Clinical group
94089	Pseudohypoparathyroidism type 1B	457062, 641343	Disease
94090	Pseudohypoparathyroidism type 2	457062	Disease
457059	Pseudohypoparathyroidism with Albright hereditary osteodystrophy	240371, 477808, 79381, 93436, 97593, 98648	Clinical group
79443	Pseudohypoparathyroidism type 1A	457059, 611314, 641343	Disease
79444	Pseudohypoparathyroidism type 1C	457059, 641343	Disease
79445	Pseudopseudohypoparathyroidism	457059, 641343	Disease
369942	CADDS	101940, 139009, 68356, 68373, 68385	Disease
371235	Congenital disorder of glycosylation with developmental anomaly	139009	Category
280633	Multiple congenital anomalies-hypotonia-seizures syndrome	102283, 309515, 371071, 371235, 611327	Malformation syndrome
300496	Multiple congenital anomalies-hypotonia-seizures syndrome type 2	102283, 309515, 371071, 371235, 611327	Malformation syndrome
370930	XYLT1-CDG	102283, 309450, 371047, 371235, 611327	Disease
370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome	180772, 309347, 371071, 371235, 611314, 97120	Disease
371195	Congenital disorder of glycosylation-related bone disorder	364803, 371235	Category
2311	Autosomal recessive spondylocostal dysostosis	309505, 371195, 93454	Malformation syndrome
3144	Schneckenbecken dysplasia	309463, 371195, 93434	Malformation syndrome
321	Multiple osteochondromas	183527, 309450, 371195, 68411, 93450	Disease
75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	102283, 309450, 371195, 536471, 611327, 93459	Clinical subtype
247262	Hyperphosphatasia-intellectual disability syndrome	102283, 309515, 371195, 498454, 611327	Disease
263463	CHST3-related skeletal dysplasia	309450, 371195, 93441	Disease
263508	COG1-CDG	102283, 309568, 371047, 371195, 611327	Disease
314667	TMEM165-CDG	309347, 371047, 371157, 371195, 93446	Disease
363417	Temtamy preaxial brachydactyly syndrome	139042, 309450, 371047, 371195, 371212, 498454, 611314	Malformation syndrome
536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	309450, 371195, 536471, 611314, 93446	Clinical subtype
371212	Congenital disorder of glycosylation with deafness as a major feature	371235, 90642	Category
244310	RFT1-CDG	309347, 371071, 371157, 371212, 611314	Disease
139012	Rare bone development disorder	93890	Category
364526	Primary bone dysplasia	139012, 183524, 404584, 93419	Category
498445	Genetic inflammatory or rheumatoid-like osteoarthropathy	364526	Category
1159	Progressive pseudorheumatoid dysplasia	253, 498445	Disease
498474	Hyaline fibromatosis syndrome	498445, 93449	Disease
2028	Juvenile hyaline fibromatosis	139042, 183580, 477808, 498474, 71209, 79381	Clinical subtype
2176	Infantile systemic hyalinosis	139027, 498474	Clinical subtype
1451	CINCA syndrome	208650, 280926, 498445, 611314	Disease
210115	Sterile multifocal osteomyelitis with periostitis and pustulosis	290839, 290842, 324927, 324942, 498445, 619238, 622720	Disease
53715	Familial tumoral calcinosis	182130, 183487, 183634, 498445, 68415, 79386	Disease
306658	Familial normophosphatemic tumoral calcinosis	53715	Clinical subtype
306661	Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome	309458, 371200, 53715	Clinical subtype
77297	Majeed syndrome	290839, 290842, 293830, 324927, 324942, 498445, 619238, 622720	Disease
498448	Overgrowth or tall stature syndrome with skeletal involvement	364526	Category
622925	X-linked severe syndromic thoracic aortic aneurysm and dissection	284993, 285014, 498448	Malformation syndrome
659387	PRC-2 complex-related overgrowth spectrum	102283, 498448, 611327, 93460	Clinical group
659396	Cohen-Gibson syndrome	659387	Malformation syndrome
3447	Weaver syndrome	659387	Malformation syndrome
659463	Imagawa-Matsumoto syndrome	659387	Malformation syndrome
744	Proteus syndrome	156237, 166466, 211277, 294057, 459537, 498448, 622914, 93460	Malformation syndrome
821	Sotos syndrome	102283, 183422, 262038, 498448, 522548, 611327, 93460, 98641	Disease
561	Marshall-Smith syndrome	102283, 498448, 611327, 93460	Malformation syndrome
140944	CLOVES syndrome	183484, 211252, 294057, 459537, 498448, 530313, 622914, 715460, 79382	Malformation syndrome
115	Congenital contractural arachnodactyly	284993, 498448, 97120	Malformation syndrome
60030	Loeys-Dietz syndrome	284993, 285014, 498448	Malformation syndrome
498488	Overgrowth syndrome with 2q37 translocation	263708, 498448	Malformation syndrome
329191	Tall stature-long halluces-multiple extra-epiphyses syndrome	498448, 93454	Disease
498485	Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome	498448	Malformation syndrome
477831	Kosaki overgrowth syndrome	498448	Malformation syndrome
597738	Luscan-Lumish syndrome	102283, 498448, 611327, 93460	Malformation syndrome
364536	Primary bone dysplasia with micromelia	364526	Category
15	Achondroplasia	364536, 93420	Disease
429	Hypochondroplasia	364536, 93420	Disease
628	Diastrophic dysplasia	364536, 93423	Disease
1422	Chondrodysplasia-difference of sex development syndrome	325638, 364536, 519286, 522568, 98087	Malformation syndrome
85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	364536, 79359, 79360, 93420	Disease
364541	Otopalatodigital syndrome spectrum disorder	364526, 93425	Clinical group
90652	Otopalatodigital syndrome type 2	102283, 139036, 139042, 156237, 183576, 364541, 611327, 90642	Malformation syndrome
90650	Otopalatodigital syndrome type 1	102283, 139036, 139042, 156237, 183576, 364541, 611327, 90642	Malformation syndrome
137834	Frank-Ter Haar syndrome	364541	Disease
435804	Short stature-advanced bone age-early-onset osteoarthritis syndrome	364526, 674499	Disease
253	Spondyloepiphyseal dysplasia and spondyloepimetaphyseal dysplasia	364526	Clinical group
642099	Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type	253, 93441	Disease
664377	MGP-related spondyloepiphyseal dysplasia	139021, 183570, 253	Malformation syndrome
2114	Hip dysplasia, Beukes type	253	Disease
800	Schwartz-Jampel syndrome	206644, 206973, 207101, 253, 522548, 674499, 98641	Disease
239	Dyggve-Melchior-Clausen disease	102283, 253, 611327	Disease
2635	Metatropic dysplasia	253, 364820	Disease
828	Stickler syndrome	138041, 253, 716446, 90642, 98638	Disease
90653	Stickler syndrome type 1	828, 93421, 98648	Clinical subtype
90654	Stickler syndrome type 2	828, 93422, 98648	Clinical subtype
250984	Autosomal recessive Stickler syndrome	828, 93429	Clinical subtype
1427	Autosomal recessive otospondylomegaepiphyseal dysplasia	253, 93421, 93422	Disease
1667	Wolcott-Rallison syndrome	102283, 181381, 183625, 253, 611327	Disease
1830	Schimke immuno-osseous dysplasia	169349, 180766, 253, 567562	Disease
1865	Dyssegmental dysplasia, Silverman-Handmaker type	253, 519296, 674499	Disease
485	Kniest dysplasia	138041, 253, 93421	Disease
3101	Richieri Costa-da Silva syndrome	102283, 206973, 253, 611327	Malformation syndrome
1856	Spondyloperipheral dysplasia-short ulna syndrome	253, 93421	Disease
83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	182070, 183500, 253, 68356	Disease
2619	Brachydactylous dwarfism, Mseleni type	253	Disease
93279	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis	253, 93421	Disease
93282	Spondyloepimetaphyseal dysplasia, PAPSS2 type	253, 93423	Disease
93283	Spondyloepiphyseal dysplasia, Kimberley type	253, 674499	Disease
93284	Spondyloepiphyseal dysplasia tarda	253	Disease
93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	253, 93421	Disease
93347	Anauxetic dysplasia	253	Disease
93349	X-linked spondyloepimetaphyseal dysplasia	253	Disease
93351	Spondyloepimetaphyseal dysplasia, Irapa type	253	Disease
93352	Spondyloepimetaphyseal dysplasia, Shohat type	253	Disease
93356	Spondyloepimetaphyseal dysplasia, Missouri type	253	Disease
93357	SPONASTRIME dysplasia	253	Disease
93358	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	253	Disease
93360	Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type	253, 93441	Disease
94068	Spondyloepiphyseal dysplasia congenita	253, 93421	Disease
99642	Spondyloepimetaphyseal dysplasia, Handigodu type	253	Disease
137678	Spondyloepiphyseal dysplasia with metatarsal shortening	253, 93421	Disease
156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type	253	Disease
156731	Dyssegmental dysplasia, Rolland-Desbuquois type	253	Disease
157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	253, 519296, 536471	Clinical subtype
163649	Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome	102283, 139039, 253, 611327	Disease
163654	Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome	253	Disease
163662	Spondyloepiphyseal dysplasia, Reardon type	253	Disease
163665	Spondyloepiphyseal dysplasia tarda, Kohn type	102283, 253, 611327	Disease
163668	Spondyloepiphyseal dysplasia, MacDermot type	253, 90642	Malformation syndrome
166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	102285, 138041, 139039, 253, 330206, 90642, 93422	Malformation syndrome
168443	Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome	253	Disease
168451	Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome	253	Disease
168454	Spondyloepimetaphyseal dysplasia, Geneviève type	253	Disease
171866	Spondyloepimetaphyseal dysplasia, aggrecan type	253, 674499	Disease
178355	Smith-McCort dysplasia	253	Disease
228387	Spondylo-megaepiphyseal-metaphyseal dysplasia	253	Disease
263482	Spondyloepimetaphyseal dysplasia, Maroteaux type	253, 364820	Disease
353298	Roifman syndrome	102283, 169349, 253, 611327	Disease
370015	Spondyloepimetaphyseal dysplasia, Isidor-Toutain type	253	Disease
420794	Cono-spondylar dysplasia	102283, 139021, 183570, 253, 611327	Malformation syndrome
436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	156643, 207018, 253, 35696, 522548, 68385, 90642, 90692, 98641	Disease
642085	EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity	253, 93441	Disease
611207	Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome	102283, 139021, 183570, 253, 611327, 68356, 716405, 90642	Clinical syndrome
1458	CODAS syndrome	102283, 102285, 253, 330206, 522548, 611327, 98641	Malformation syndrome
457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	102283, 139021, 183570, 253, 611327	Malformation syndrome
459051	Spondyloepiphyseal dysplasia, Stanescu type	253, 93421	Disease
254	Spondylometaphyseal dysplasia	364526	Clinical group
168555	Spondylometaphyseal dysplasia, A4 type	254	Disease
448267	Regressive spondylometaphyseal dysplasia	254	Malformation syndrome
1855	Spondyloenchondrodysplasia	254, 477647, 481671	Malformation syndrome
85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	254, 716405	Disease
93314	Spondylometaphyseal dysplasia, Kozlowski type	254, 364820	Disease
93315	Spondylometaphyseal dysplasia, 'corner fracture' type	254, 93421	Disease
93316	Spondylometaphyseal dysplasia, Schmidt type	254, 93421	Disease
166272	Odontochondrodysplasia	180766, 183580, 254	Malformation syndrome
168544	Spondylometaphyseal dysplasia, Golden type	254	Disease
168549	Axial spondylometaphyseal dysplasia	254, 716405	Disease
168552	Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome	254	Disease
93426	Ciliopathies with major skeletal involvement	364526, 364803	Category
1505	Short rib-polydactyly syndrome	182108, 93426	Clinical group
498497	Short rib-polydactyly syndrome type 5	1505	Malformation syndrome
474	Jeune syndrome	1505, 156162, 156165, 183592, 506213, 93603	Malformation syndrome
93268	Short rib-polydactyly syndrome, Beemer-Langer type	1505	Malformation syndrome
93269	Short rib-polydactyly syndrome, Majewski type	1505	Malformation syndrome
397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	140874, 1505	Malformation syndrome
1803	Thoracomelic dysplasia	182108, 93426	Disease
2753	Orofaciodigital syndrome type 4	102283, 140997, 182108, 611327, 90642, 93426	Malformation syndrome
3317	Thoracolaryngopelvic dysplasia	182108, 182111, 183622, 93426	Malformation syndrome
140969	Saldino-Mainzer syndrome	156162, 506213, 716405, 93426, 93587	Disease
464366	NEK9-related lethal skeletal dysplasia	182108, 363250, 93426	Malformation syndrome
93429	Multiple epiphyseal dysplasia and pseudoachondroplasia	364526	Category
251	Multiple epiphyseal dysplasia	93429	Clinical group
93307	Multiple epiphyseal dysplasia type 4	251, 93423	Disease
93308	Multiple epiphyseal dysplasia type 1	251	Disease
93311	Multiple epiphyseal dysplasia type 5	251	Disease
166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	251	Disease
166016	Multiple epiphyseal dysplasia, Lowry type	251	Disease
166024	Multiple epiphyseal dysplasia-macrocephaly-facial dysmorphism syndrome	251	Disease
166029	Multiple epiphyseal dysplasia-severe proximal femoral dysplasia syndrome	251	Disease
166032	Multiple epiphyseal dysplasia-miniepiphyses syndrome	251	Disease
647676	Multiple epiphyseal dysplasia type 7	251	Disease
1824	Lowry-Wood syndrome	93429	Disease
750	Pseudoachondroplasia	93429	Disease
93430	Multiple metaphyseal dysplasia	364526	Clinical group
1040	Metaphyseal anadysplasia	93430	Disease
174	Metaphyseal chondrodysplasia, Schmid type	93430	Disease
1837	Metaphyseal chondrodysplasia, Rosenberg type	93430	Disease
2501	Metaphyseal chondrodysplasia, Spahr type	93430	Disease
2502	Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome	102283, 611327, 90642, 93430	Malformation syndrome
2504	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	93430	Malformation syndrome
175	Cartilage-hair hypoplasia	169349, 519296, 522520, 79373, 93430, 98683	Disease
811	Shwachman-Diamond syndrome	101937, 102283, 165661, 183422, 331184, 611327, 68383, 93430	Disease
33067	Metaphyseal chondrodysplasia, Jansen type	93430	Disease
166038	Metaphyseal chondrodysplasia, Kaitila type	93430	Disease
79106	Eiken syndrome	93430, 93447	Malformation syndrome
93434	Spondylodysplastic dysplasia	364526	Clinical group
2746	Opsismodysplasia	93434	Disease
932	Achondrogenesis	93434	Disease
93296	Achondrogenesis type 2	932, 93421	Clinical subtype
93297	Hypochondrogenesis	932, 93421	Clinical subtype
93298	Achondrogenesis type 1B	932, 93423	Clinical subtype
93299	Achondrogenesis type 1A	932	Clinical subtype
1293	Brachyolmia	93434	Clinical group
448242	Autosomal recessive brachyolmia	1293	Malformation syndrome
2899	Brachyolmia-amelogenesis imperfecta syndrome	1293, 139042, 183580	Malformation syndrome
93302	Brachyolmia, Maroteaux type	1293	Malformation syndrome
93304	Autosomal dominant brachyolmia	1293, 364820	Malformation syndrome
3180	Spondylocamptodactyly syndrome	93434	Malformation syndrome
3275	Spondylocarpotarsal synostosis	93425, 93434	Malformation syndrome
66637	Diaphanospondylodysostosis	93434, 93454	Malformation syndrome
85166	Platyspondylic dysplasia, Torrance type	93421, 93434	Malformation syndrome
93317	Spondylometaphyseal dysplasia, Sedaghatian type	93434	Malformation syndrome
401979	Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type	93434	Malformation syndrome
508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	102283, 169349, 611327, 93434	Disease
622934	SBDS-related severe neonatal spondylometaphyseal dysplasia	93434	Malformation syndrome
93436	Acromelic dysplasia	364526	Clinical group
464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	102283, 240371, 611327, 93436	Malformation syndrome
623695	MIR140-related spondyloepiphyseal dysplasia	93436	Malformation syndrome
950	Acrodysostosis	102283, 155899, 611327, 93436	Malformation syndrome
969	Acromicric dysplasia	93436	Malformation syndrome
2623	Geleophysic dysplasia	93436	Malformation syndrome
3041	Intellectual disability-balding-patella luxation-acromicria syndrome	102283, 611327, 93436	Malformation syndrome
63442	Angel-shaped phalango-epiphyseal dysplasia	93436	Malformation syndrome
63446	Acrocapitofemoral dysplasia	93436	Malformation syndrome
85168	Craniofacial conodysplasia	93436	Malformation syndrome
88630	Terminal osseous dysplasia-pigmentary defects syndrome	183466, 79375, 93425, 93436	Malformation syndrome
324764	Trichorhinophalangeal syndrome	79373, 93436	Clinical group
502	Trichorhinophalangeal syndrome type 2	102283, 262065, 324764, 611327	Malformation syndrome
77258	Trichorhinophalangeal syndrome type 1	324764	Malformation syndrome
2588	Myhre syndrome	102283, 611327, 93436	Malformation syndrome
93437	Acromesomelic dysplasia	364526	Clinical group
968	Acromesomelic dysplasia, Hunter-Thompson type	93437	Malformation syndrome
40	Acromesomelic dysplasia, Maroteaux type	93437	Malformation syndrome
2098	Acromesomelic dysplasia, Grebe type	93437	Malformation syndrome
2496	Mesomelia-synostoses syndrome	262065, 93437	Malformation syndrome
2639	Fibular aplasia-complex brachydactyly syndrome	294955, 404574, 93437	Malformation syndrome
93382	Brachydactyly type A6	498451, 93437	Malformation syndrome
93438	Mesomelic and rhizo-mesomelic dysplasia	364526	Clinical group
240	Léri-Weill dyschondrosteosis	93438	Malformation syndrome
1453	Cleidorhizomelic syndrome	93438	Malformation syndrome
1836	Mesomelic dysplasia, Kantaputra type	93438	Malformation syndrome
2021	Fibrochondrogenesis	93422, 93438	Disease
2497	Upper limb mesomelic dysplasia, type Fryns	93438	Malformation syndrome
2631	Mesomelic dwarfism-cleft palate-camptodactyly syndrome	102285, 139039, 330206, 93438	Malformation syndrome
2632	Langer mesomelic dysplasia	93438	Malformation syndrome
2633	Mesomelic dysplasia, Nievergelt type	93438	Malformation syndrome
2634	Mesomelic dwarfism, Reinhardt-Pfeiffer type	93438	Malformation syndrome
2733	Omodysplasia	93438	Malformation syndrome
93328	Autosomal dominant omodysplasia	2733	Clinical subtype
93329	Autosomal recessive omodysplasia	2733	Clinical subtype
3098	Rhizomelic syndrome, Urbach type	93438	Malformation syndrome
2831	Rhizomelic dysplasia, Patterson-Lowry type	93438	Malformation syndrome
56304	Atelosteogenesis type II	102283, 138055, 611327, 93423, 93438	Malformation syndrome
85170	Mesomelic dysplasia, Savarirayan type	93438	Malformation syndrome
97360	Robinow syndrome	102283, 139021, 183570, 611327, 93438	Malformation syndrome
1507	Autosomal recessive Robinow syndrome	97360	Clinical subtype
3107	Autosomal dominant Robinow syndrome	97360	Clinical subtype
314795	SHOX-related short stature	93438	Disease
397623	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome	102285, 139021, 156243, 183570, 330206, 90642, 93438	Malformation syndrome
440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	90642, 93422, 93438	Malformation syndrome
163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	102283, 611327, 93438	Disease
580940	QRICH1-related intellectual disability-chondrodysplasia syndrome	102283, 139021, 183570, 611327, 93438	Malformation syndrome
632603	Mesomelic dysplasia-digital anomalies-intellectual disability syndrome	102283, 611327, 93438	Malformation syndrome
93439	Campomelic dysplasia and related disorders	364526	Clinical group
656283	Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency	331223, 93439	Disease
140	Campomelic dysplasia	102283, 325638, 611327, 93439, 98087	Malformation syndrome
1318	Campomelia, Cumming type	102283, 611327, 93439	Malformation syndrome
1801	Kyphomelic dysplasia	93439	Malformation syndrome
2768	Blount disease	93439	Malformation syndrome
3344	Weismann-Netter syndrome	93439	Malformation syndrome
3206	Stüve-Wiedemann syndrome	93439	Malformation syndrome
324307	Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome	93439	Malformation syndrome
93440	Slender bone dysplasia	364526	Clinical group
2333	Kenny-Caffey syndrome	139021, 181402, 183570, 93440	Malformation syndrome
93324	Autosomal recessive Kenny-Caffey syndrome	2333	Etiological subtype
93325	Autosomal dominant Kenny-Caffey syndrome	2333	Etiological subtype
2616	3M syndrome	102285, 139021, 183570, 330206, 93440	Malformation syndrome
85173	IMAGe syndrome	156643, 165707, 595337, 90692, 93440	Malformation syndrome
314394	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	363250, 93440	Disease
1506	Thin ribs-tubular bones-dysmorphism syndrome	93440	Malformation syndrome
2108	Hallermann-Streiff syndrome	102283, 139021, 183570, 611327, 79373, 79389, 93440, 98650	Malformation syndrome
50811	Lipodystrophy-intellectual disability-deafness syndrome	102283, 139033, 363245, 611327, 90642, 93440, 93447, 98305	Disease
2109	Hallermann-Streiff-like syndrome	102283, 139021, 183570, 611327, 79373, 79389, 93440, 98650	Malformation syndrome
93441	Primary bone dysplasia with multiple joint dislocations	364526	Clinical group
2370	Larsen-like osseous dysplasia-short stature syndrome	93441	Malformation syndrome
1190	Atelosteogenesis type I	138055, 93425, 93441	Malformation syndrome
114	Auriculoosteodysplasia	93441	Malformation syndrome
1263	Boomerang dysplasia	93425, 93441	Disease
1425	Desbuquois syndrome	139030, 93441, 98638	Malformation syndrome
1508	Coxoauricular syndrome	93441	Malformation syndrome
2371	Lethal Larsen-like syndrome	139030, 93441	Malformation syndrome
503	Larsen syndrome	139030, 139039, 93425, 93441	Malformation syndrome
56305	Atelosteogenesis type III	102283, 138055, 611327, 93425, 93441	Malformation syndrome
85174	Pseudodiastrophic dysplasia	139030, 93441	Malformation syndrome
280586	Chondrodysplasia with joint dislocations, gPAPP type	93441	Malformation syndrome
438117	Steel syndrome	93441	Disease
527450	Severe myopia-generalized joint laxity-short stature syndrome	139030, 93441	Malformation syndrome
589442	Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome	102283, 139021, 183570, 611327, 716405, 90642, 93441	Malformation syndrome
93442	Chondrodysplasia punctata	364526	Clinical group
177	Rhizomelic chondrodysplasia punctata	225686, 3276, 611314, 68385, 93442, 98648	Disease
309803	Rhizomelic chondrodysplasia punctata type 3	177	Etiological subtype
309789	Rhizomelic chondrodysplasia punctata type 1	177	Etiological subtype
309796	Rhizomelic chondrodysplasia punctata type 2	177	Etiological subtype
468717	Rhizomelic chondrodysplasia punctata type 5	177	Etiological subtype
176	Non-rhizomelic chondrodysplasia punctata	93442	Clinical group
79345	Brachytelephalangic chondrodysplasia punctata	176, 91088	Malformation syndrome
79346	Chondrodysplasia punctata, tibial-metacarpal type	176	Malformation syndrome
79347	Chondrodysplasia punctata, Toriello type	176	Malformation syndrome
85175	Astley-Kendall dysplasia	93442	Malformation syndrome
85202	Keutel syndrome	102283, 611327, 93442	Malformation syndrome
93444	Primary bone dysplasia with increased bone density	364526	Category
2801	Juvenile Paget disease	93444	Malformation syndrome
1328	Camurati-Engelmann disease	93444	Malformation syndrome
1798	Craniofacial dysostosis-diaphyseal hyperplasia syndrome	93444	Malformation syndrome
1802	Ghosal hematodiaphyseal dysplasia	93444	Malformation syndrome
2658	Lenz-Majewski hyperostotic dysplasia	102283, 611327, 93444	Malformation syndrome
2710	Oculodentodigital dysplasia	102283, 139042, 183580, 522548, 568047, 611327, 79373, 93444, 98641	Malformation syndrome
2779	Osteopathia striata-pigmentary dermopathy-white forelock syndrome	183466, 79375, 93444	Malformation syndrome
2790	Endosteal hyperostosis, Worth type	93444	Malformation syndrome
3005	Pyle disease	93444	Disease
3152	Sclerosteosis	93444	Malformation syndrome
3352	Tricho-dento-osseous syndrome	139042, 183580, 79367, 79373, 93444	Malformation syndrome
3416	Hyperostosis corticalis generalisata	93444	Malformation syndrome
646139	Dysplastic cortical hyperostosis	93444	Malformation syndrome
2204	Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type	646139	Clinical subtype
646136	Dysplastic cortical hyperostosis, Al-Gazali type	646139	Clinical subtype
2781	Osteopetrosis and related disorders	506219, 93444	Clinical group
94063	12q14 microdeletion syndrome	102283, 261821, 2781, 611327	Malformation syndrome
166119	Isolated osteopoikilosis	2781	Disease
178389	Osteopetrosis-hypogammaglobulinemia syndrome	101977, 2781	Disease
210110	Intermediate osteopetrosis	2781	Malformation syndrome
53	Albers-Schönberg osteopetrosis	2781, 519337	Malformation syndrome
2785	Osteopetrosis with renal tubular acidosis	2781, 314822, 611314	Disease
1782	Dysosteosclerosis	2781	Malformation syndrome
1879	Melorheostosis with osteopoikilosis	2781	Malformation syndrome
2485	Melorheostosis	2781	Malformation syndrome
2777	Osteomesopyknosis	2781	Malformation syndrome
667	Autosomal recessive malignant osteopetrosis	2781, 519337	Malformation syndrome
2783	Autosomal dominant osteopetrosis type 1	2781	Malformation syndrome
69088	Hypohidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome	2781, 331217, 568047, 79373	Disease
85179	Infantile osteopetrosis with neuroaxonal dysplasia	2781	Malformation syndrome
99844	Leukocyte adhesion deficiency type III	2781, 2968	Clinical subtype
500548	Osteosclerotic metaphyseal dysplasia	2781	Malformation syndrome
556985	Early-onset calcifying leukoencephalopathy-skeletal dysplasia	182070, 183500, 2781, 68356	Disease
75325	Osteosclerosis-ichthyosis-premature ovarian failure syndrome	281244, 399853, 400022, 485382, 93444, 95710	Disease
85182	Diaphyseal medullary stenosis-bone malignancy syndrome	183527, 68411, 93444	Disease
85184	Craniometadiaphyseal dysplasia, wormian bone type	93444	Malformation syndrome
85188	Metaphyseal dysplasia, Braun-Tinschert type	93444	Malformation syndrome
93443	Neonatal osteosclerotic dysplasia	93444	Clinical group
1310	Caffey disease	93443	Malformation syndrome
1832	Osteosclerotic bone dysplasia	93443	Malformation syndrome
50945	Blomstrand lethal chondrodysplasia	522548, 93443, 98641	Malformation syndrome
248095	Primary hypertrophic osteoarthropathy	93444	Clinical group
1525	Cranio-osteoarthropathy	248095	Malformation syndrome
2796	Pachydermoperiostosis	248095, 477808, 79381	Malformation syndrome
314029	High bone mass osteogenesis imperfecta	93444	Disease
324364	Mixed sclerosing bone dystrophy with extra-skeletal manifestations	93444	Disease
391327	X-linked calvarial hyperostosis	93444	Disease
443098	Hyperostosis cranialis interna	90642, 93444	Disease
93446	Primary bone dysplasia with decreased bone density	364526	Category
2771	Bruck syndrome	167762, 93446	Malformation syndrome
2772	Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome	519296, 522548, 93446, 98641	Malformation syndrome
2773	Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome	102283, 611327, 93446	Malformation syndrome
666	Osteogenesis imperfecta	93446	Disease
216796	Osteogenesis imperfecta type 1	519296, 666	Clinical subtype
216804	Osteogenesis imperfecta type 2	519296, 666	Clinical subtype
216812	Osteogenesis imperfecta type 3	167762, 519296, 666	Clinical subtype
216820	Osteogenesis imperfecta type 4	167762, 519296, 666	Clinical subtype
216828	Osteogenesis imperfecta type 5	666	Clinical subtype
2097	Grant syndrome	519296, 93446	Malformation syndrome
2324	Osteopenia-intellectual disability-sparse hair syndrome	102283, 611327, 93446	Malformation syndrome
2786	Osteoporosis-oculocutaneous hypopigmentation syndrome	93446	Malformation syndrome
2788	Osteoporosis-pseudoglioma syndrome	102283, 519286, 522548, 522568, 611327, 716459, 717348, 93446, 98641	Disease
457378	Complex lethal osteochondrodysplasia	363250, 93446	Malformation syndrome
53697	Gnathodiaphyseal dysplasia	93446, 93450	Malformation syndrome
85191	Singleton-Merten dysplasia	477647, 481671, 93446	Malformation syndrome
85192	Calvarial doughnut lesions-bone fragility syndrome	93446	Malformation syndrome
85193	Idiopathic juvenile osteoporosis	182231, 486955, 93446	Malformation syndrome
166277	Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia	180766, 183580, 93446	Malformation syndrome
230857	Ehlers-Danlos/osteogenesis imperfecta syndrome	139027, 139030, 182222, 228215, 619249, 93446	Disease
319195	Chondroectodermal dysplasia with night blindness	79373, 93446	Disease
391330	X-linked osteoporosis with fractures	93446	Disease
498481	LRP5-related primary osteoporosis	93446	Malformation syndrome
536532	Classical-like Ehlers-Danlos syndrome type 2	93446, 98249	Disease
93447	Primary bone dysplasia with defective bone mineralization	364526	Category
557003	Oculoskeletodental syndrome	102283, 363250, 522548, 611327, 77830, 90642, 93447, 98027, 98641	Disease
417	Neonatal severe primary hyperparathyroidism	181408, 208596, 93447	Disease
405	Familial hypocalciuric hypercalcemia	183634, 264719, 68415, 93447	Disease
93372	Familial hypocalciuric hypercalcemia type 1	405	Etiological subtype
101049	Familial hypocalciuric hypercalcemia type 2	405	Etiological subtype
101050	Familial hypocalciuric hypercalcemia type 3	405	Etiological subtype
73230	Ossification anomalies-psychomotor developmental delay syndrome	102283, 182108, 611327, 93447	Disease
289098	Disorders of vitamin D metabolism	183634, 68415, 93447	Category
437	Hypophosphatemic rickets	183592, 289098, 93603	Clinical group
1652	Dent disease	437, 506213	Disease
93622	Dent disease type 1	1652	Clinical subtype
93623	Dent disease type 2	1652	Clinical subtype
213	Cystinosis	437, 79207	Disease
411629	Infantile nephropathic cystinosis	213, 506213, 93593	Clinical subtype
411634	Juvenile nephropathic cystinosis	213, 506213, 93593	Clinical subtype
411641	Ocular cystinosis	213, 98628	Clinical subtype
244305	Dominant hypophosphatemia with nephrolithiasis or osteoporosis	437, 506213	Disease
89936	X-linked hypophosphatemia	437	Disease
89937	Autosomal dominant hypophosphatemic rickets	437	Disease
157215	Hereditary hypophosphatemic rickets with hypercalciuria	437	Disease
289176	Autosomal recessive hypophosphatemic rickets	437	Disease
289103	Hypocalcemic rickets	289098	Clinical group
93160	Hypocalcemic vitamin D-resistant rickets	289103	Disease
289157	Hypocalcemic vitamin D-dependent rickets	289103	Disease
1416	Familial calcium pyrophosphate deposition	182231, 271870, 93447	Disease
93449	Primary osteolysis	364526	Category
647667	Mandibuloacral dysplasia associated to MTX2	139033, 363245, 93449	Malformation syndrome
1952	Epiphyseal stippling-osteoclastic hyperplasia syndrome	93449	Malformation syndrome
2457	Mandibuloacral dysplasia	102285, 139033, 330206, 363245, 522548, 93449, 98305, 98641	Malformation syndrome
90153	Mandibuloacral dysplasia with type A lipodystrophy	2457, 300763	Clinical subtype
90154	Mandibuloacral dysplasia with type B lipodystrophy	2457	Clinical subtype
2776	Autosomal recessive distal osteolysis syndrome	102283, 611327, 93449	Malformation syndrome
740	Hutchinson-Gilford progeria syndrome	139027, 139033, 300766, 363245, 79389, 93449	Disease
50809	Talo-patello-scaphoid osteolysis	93449	Malformation syndrome
85195	Familial expansile osteolysis	93449	Disease
280576	Nestor-Guillermo progeria syndrome	139033, 363245, 79389, 93449, 98305	Malformation syndrome
352636	Phalangeal microgeodic syndrome	93449	Disease
371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	93449	Disease
93450	Primary bone dysplasia with disorganized development of skeletal components	364526	Category
73	Gorham-Stout disease	182231, 235832, 2415, 486955, 93450	Malformation syndrome
636	Neurofibromatosis type 1	101950, 156629, 166466, 183466, 183487, 183619, 477771, 506213, 536391, 634518, 79375, 79386, 93450	Disease
97685	17q11 microdeletion syndrome	262137, 636	Clinical subtype
363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	636	Etiological subtype
337	Fibrodysplasia ossificans progressiva	102283, 183484, 364531, 611327, 79382, 93450	Disease
2762	Progressive osseous heteroplasia	364531, 477808, 79381, 93450	Malformation syndrome
595216	Fibrous dysplasia/McCune-Albright syndrome	93450	Clinical group
562	McCune-Albright syndrome	178040, 183422, 183466, 314749, 435564, 595216, 650187, 79375	Disease
249	Fibrous dysplasia of bone	595216	Malformation syndrome
93277	Monostotic fibrous dysplasia	249	Clinical subtype
93276	Polyostotic fibrous dysplasia	249	Clinical subtype
184	Cherubism	102285, 290839, 324936, 324953, 330206, 619238, 93450, 98027	Malformation syndrome
1822	Dysplasia epiphysealis hemimelica	93450	Malformation syndrome
1962	Exostoses-anetodermia-brachydactyly type E syndrome	93450	Malformation syndrome
2499	Metachondromatosis	93450	Malformation syndrome
2767	Carpotarsal osteochondromatosis	93450	Malformation syndrome
2867	Short stature, Brussels type	93450	Malformation syndrome
3019	Ramon syndrome	102283, 139042, 183580, 611327, 93450	Malformation syndrome
3408	Upington disease	93450	Malformation syndrome
2770	Nasu-Hakola disease	276058, 68356, 93450, 98534	Malformation syndrome
57782	Mazabraud syndrome	71209, 93450	Malformation syndrome
85197	Genochondromatosis type 1	93450	Disease
85198	Dysspondyloenchondromatosis	93450	Malformation syndrome
93398	Genochondromatosis type 2	93450	Disease
99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	93450	Disease
488265	Osteofibrous dysplasia	93450	Disease
93465	Lethal chondrodysplasia	364526	Category
1842	Bone dysplasia, lethal Holmgren type	93465	Malformation syndrome
2347	Lethal Kniest-like dysplasia	93465	Malformation syndrome
3003	Pyknoachondrogenesis	93465	Malformation syndrome
1423	Lethal recessive chondrodysplasia	93465	Malformation syndrome
364531	Primary bone dysplasia with progressive ossification of skin, skeletal muscle, fascia, tendons and ligaments	364526	Category
364559	Dysostosis	139012, 93419	Category
66630	Congenital pseudoarthrosis of the clavicle	364559, 404568	Disease
93453	Dysostosis with predominant craniofacial involvement	364559, 404568	Category
1517	Cantú syndrome	102283, 611327, 93453	Malformation syndrome
1794	Oculomaxillofacial dysostosis	139039, 93453	Malformation syndrome
250	Frontonasal dysplasia	93453	Clinical group
1519	SPECC1L-related hypertelorism syndrome	102285, 250, 330206	Malformation syndrome
1521	Craniofrontonasal dysplasia-Poland anomaly syndrome	180193, 250	Malformation syndrome
1993	Pai syndrome	139039, 250	Malformation syndrome
1827	Acromelic frontonasal dysplasia	102283, 250, 364574, 611327	Malformation syndrome
228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	102283, 250, 481771, 522520, 611327, 79364, 98683	Malformation syndrome
306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	139036, 139039, 183576, 250	Malformation syndrome
391474	Frontorhiny	141234, 250, 414726	Malformation syndrome
398156	Oculoauriculofrontonasal syndrome	250	Malformation syndrome
488437	SIX2-related frontonasal dysplasia	250	Malformation syndrome
157832	Craniorhiny	156246, 250	Malformation syndrome
521308	Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome	250	Malformation syndrome
2549	Oculoauriculovertebral spectrum with radial defects	102285, 139036, 183576, 330206, 93453	Malformation syndrome
2769	Familial osteodysplasia, Anderson type	93453	Malformation syndrome
3291	Teebi-Shaltout syndrome	79373, 93453	Malformation syndrome
155896	Otomandibular dysplasia	183583, 68329, 93453, 96333	Category
137888	Auriculocondylar syndrome	139036, 155896, 183576	Malformation syndrome
141132	Oculo-auriculo-vertebral spectrum	102285, 139036, 155896, 183576, 330206, 519329	Malformation syndrome
155899	Mandibulofacial dysostosis	155896	Clinical group
443995	Mandibulofacial dysostosis with alopecia	155899, 481771, 79364, 90642	Malformation syndrome
156202	Otomandibular dysplasia associated with monogenic syndromes	155896	Category
1296	Lambert syndrome	102283, 139036, 156202, 183576, 611327	Malformation syndrome
140997	Orofaciodigital syndrome	139036, 156215, 156237, 183576, 294959, 93453	Clinical group
2751	Orofaciodigital syndrome type 2	102283, 140997, 611327, 90642	Malformation syndrome
2755	Orofaciodigital syndrome type 8	140997	Malformation syndrome
2919	Orofaciodigital syndrome type 5	102283, 140997, 611327	Malformation syndrome
141000	Orofaciodigital syndrome type 11	140997	Malformation syndrome
141007	Orofaciodigital syndrome type 9	140997, 716405	Malformation syndrome
508501	Orofaciodigital syndrome type 18	140997, 363250	Malformation syndrome
459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	102283, 139021, 183570, 611327, 93453	Malformation syndrome
314555	Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome	102283, 139042, 420755, 519329, 522578, 611327, 93453	Malformation syndrome
3262	Dobrow syndrome	93453	Malformation syndrome
93454	Dysostosis with predominant vertebral and costal involvement	364559, 404568	Category
1393	Cerebrocostomandibular syndrome	102283, 611327, 93454	Malformation syndrome
1394	Cerebrofaciothoracic dysplasia	102283, 611327, 93454	Malformation syndrome
2206	Ankylosing vertebral hyperostosis with tylosis	93454	Malformation syndrome
2482	Melhem-Fahl syndrome	93454	Malformation syndrome
2759	Imperforate oropharynx-costovertebral anomalies syndrome	93454	Malformation syndrome
2840	Pelvic dysplasia-arthrogryposis of lower limbs syndrome	93454, 97120	Malformation syndrome
1797	Autosomal dominant spondylocostal dysostosis	93454	Malformation syndrome
3456	Wildervanck syndrome	139036, 183576, 93454	Malformation syndrome
2062	Progressive non-infectious anterior vertebral fusion	102285, 330206, 93454	Malformation syndrome
85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	93420, 93454	Disease
447974	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	93454, 97245	Malformation syndrome
505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	101944, 102283, 156610, 611327, 93454	Malformation syndrome
93455	Patellar dysostosis	364559, 404568	Category
2614	Nail-patella syndrome	567562, 79370, 93455, 98638	Malformation syndrome
1509	Coxopodopatellar syndrome	93455	Disease
86789	Isolated patella aplasia/hypoplasia	109011, 93455	Morphological anomaly
293150	Familial clubfoot due to PITX1 point mutation	199315, 93455	Etiological subtype
597749	KAT6B-related multiple congenital anomalies syndrome	102283, 165707, 611327, 93455	Clinical group
85201	Genitopatellar syndrome	597749	Malformation syndrome
597746	Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome	177107, 597749	Malformation syndrome
364568	Dysostosis with limb anomaly as a major feature	364559	Category
488434	Camptodactyly syndrome, Guadalajara type 3	102283, 364568, 404571, 611327	Malformation syndrome
3292	Tel Hashomer camptodactyly syndrome	206634, 364568	Malformation syndrome
498477	Ectrodactyly with and without other manifestations	364568, 404571	Category
1897	EEM syndrome	498477, 716427, 79373	Malformation syndrome
69085	Limb-mammary syndrome	180173, 498477, 98609	Malformation syndrome
1118	Fibular aplasia-ectrodactyly syndrome	294957, 498477	Malformation syndrome
1892	Ectrodactyly-polydactyly syndrome	294959, 498477	Malformation syndrome
1406	Charlie M syndrome	102285, 139036, 183576, 2749, 330206, 498477	Malformation syndrome
1986	Gollop-Wolfgang complex	294955, 294957, 294959, 404574, 498477	Malformation syndrome
978	ADULT syndrome	139042, 183580, 294955, 404574, 498477, 98609	Malformation syndrome
2440	Isolated split hand-split foot malformation	498477	Malformation syndrome
3329	Tibial aplasia-ectrodactyly syndrome	139039, 294955, 294957, 404574, 498477	Malformation syndrome
2439	Patterson-Stevenson-Fontaine syndrome	139036, 183576, 364574, 498477	Malformation syndrome
69028	Dysostosis with brachydactyly	109009, 364568, 404571, 404577	Category
498451	Dysostosis with brachydactyly without extraskeletal manifestations	69028	Category
1570	Symbrachydactyly of hands and feet	498451	Malformation syndrome
633211	Preaxial digit brachydactyly-webbed fingers	498451	Malformation syndrome
93396	Brachydactyly type A2	498451	Malformation syndrome
93394	Brachydactyly type A4	498451	Malformation syndrome
93397	Brachydactyly type A7	498451	Malformation syndrome
498602	Sugarman brachydactyly	498451	Morphological anomaly
2565	Mononen-Karnes-Senac syndrome	498451	Malformation syndrome
85169	Familial digital arthropathy-brachydactyly	364820, 498451	Malformation syndrome
1275	Brachydactyly-elbow wrist dysplasia syndrome	498451, 93459	Malformation syndrome
93388	Brachydactyly type A1	498451	Malformation syndrome
93383	Brachydactyly type B	498451	Malformation syndrome
140908	Brachydactyly type B2	93383	Clinical subtype
572385	Brachydactyly type B1	93383	Clinical subtype
93384	Brachydactyly type C	498451	Malformation syndrome
93387	Brachydactyly type E	498451	Malformation syndrome
1487	Cooks syndrome	498451, 79370	Malformation syndrome
1319	Camptobrachydactyly	498451	Malformation syndrome
498454	Dysostosis with brachydactyly with extraskeletal manifestations	69028	Category
589608	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	139042, 498454, 79373, 79376	Disease
166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	102283, 498454, 611327, 716405	Malformation syndrome
238744	Mammary-digital-nail syndrome	180170, 183731, 294955, 404574, 498454	Malformation syndrome
1001	2q37 microdeletion syndrome	102283, 262010, 498454, 611327	Malformation syndrome
1276	Brachydactyly-arterial hypertension syndrome	156629, 498454, 506213	Malformation syndrome
1078	Thumb stiffness-brachydactyly-intellectual disability syndrome	102283, 498454, 611327	Malformation syndrome
1278	Brachydactyly-preaxial hallux varus syndrome	498454	Malformation syndrome
2956	Acrodysplasia scoliosis	498454	Malformation syndrome
1292	Brachymorphism-onychodysplasia-dysphalangism syndrome	102283, 139021, 183570, 498454, 611327	Malformation syndrome
1858	Skeletal dysplasia-epilepsy-short stature syndrome	102283, 498454, 611327	Malformation syndrome
52056	Ulnar/fibula ray defect-brachydactyly syndrome	498454	Malformation syndrome
2438	Hand-foot-genital syndrome	102285, 180148, 330206, 498454	Malformation syndrome
1295	Brachytelephalangy-dysmorphism-Kallmann syndrome	102285, 181387, 330206, 498454	Malformation syndrome
2911	Poland syndrome	180193, 498454	Malformation syndrome
93457	Non-syndromic limb reduction defect	109011, 364568, 404571	Category
498457	Non-syndromic longitudinal limb defect	93457	Category
2130	Non-syndromic hemimelia	498457	Clinical group
93320	Isolated ulnar hemimelia	2130	Morphological anomaly
93321	Isolated radial hemimelia	2130	Morphological anomaly
93322	Isolated tibial hemimelia	2130	Morphological anomaly
93323	Isolated fibular hemimelia	2130	Morphological anomaly
294988	Isolated hypoplasia of thumb	498457	Morphological anomaly
498461	Non-syndromic terminal transverse limb defect	93457	Category
294925	Non-syndromic amelia	498461	Clinical group
294967	Isolated amelia of upper limb	294925	Morphological anomaly
294969	Isolated amelia of lower limb	294925	Morphological anomaly
294971	Isolated tetra-amelia	294925	Morphological anomaly
973	Isolated absence/hypoplasia of fingers excluding thumb, unilateral	498461	Morphological anomaly
498491	Non-syndromic complete hemimelia	498461	Category
294981	Isolated absence of both lower leg and foot	498491	Morphological anomaly
294979	Isolated absence of both forearm and hand	498491	Morphological anomaly
294983	Isolated acheiria	498461	Morphological anomaly
294986	Isolated apodia	498461	Morphological anomaly
931	Isolated acheiropodia	498461	Morphological anomaly
294927	Non-syndromic intercalary limb defects	93457	Clinical group
294973	Isolated humeral agenesis/hypoplasia	294927	Morphological anomaly
294975	Isolated absence of upper arm and forearm with hand present	294927	Morphological anomaly
294977	Isolated absence of thigh and lower leg with foot present	294927	Morphological anomaly
1987	Isolated femoral agenesis/hypoplasia	294927	Morphological anomaly
633228	Isolated proximal femoral focal deficiency	294927	Morphological anomaly
667589	Isolated congenital femoral bifurcation	294927	Morphological anomaly
93458	Non-syndromic polydactyly, syndactyly and/or hyperphalangy	109011, 364568, 404571	Category
2913	Non-syndromic polydactyly	93458	Category
498464	Non-syndromic preaxial polydactyly	2913	Category
93336	Polydactyly of a triphalangeal thumb	498464	Morphological anomaly
93337	Polydactyly of an index finger	498464	Morphological anomaly
93338	Polysyndactyly	498464	Morphological anomaly
93339	Polydactyly of a biphalangeal thumb and/or hallux	498464	Morphological anomaly
498467	Non-syndromic postaxial polydactyly	2913	Category
93334	Postaxial polydactyly type A	498467	Morphological anomaly
93335	Postaxial polydactyly type B	498467	Morphological anomaly
498470	Non-syndromic complex polydactyly	2913	Category
295004	Central polydactyly	498470	Morphological anomaly
498494	Mirror-image polydactyly	498470	Morphological anomaly
90025	Non-syndromic syndactyly	93458	Category
2498	Syndactyly type 8	90025	Morphological anomaly
93402	Syndactyly type 1	90025	Morphological anomaly
295187	Zygodactyly type 1	93402	Clinical subtype
295189	Zygodactyly type 2	93402	Clinical subtype
295191	Zygodactyly type 3	93402	Clinical subtype
295193	Zygodactyly type 4	93402	Clinical subtype
93403	Syndactyly type 2	90025	Morphological anomaly
295195	Synpolydactyly type 1	93403	Clinical subtype
295197	Synpolydactyly type 2	93403	Clinical subtype
295199	Synpolydactyly type 3	93403	Clinical subtype
93404	Syndactyly type 3	90025	Morphological anomaly
93405	Syndactyly type 4	90025	Morphological anomaly
93406	Syndactyly type 5	90025	Morphological anomaly
157801	Mesoaxial synostotic syndactyly with phalangeal reduction	90025	Morphological anomaly
295012	Syndactyly type 6	90025	Morphological anomaly
295002	Isolated hyperphalangy	93458	Morphological anomaly
93459	Syndrome with synostosis or other joint formation defect	109009, 364568, 404571, 404577	Category
1228	Banki syndrome	93459	Malformation syndrome
1412	Tarsal-carpal coalition syndrome	93459	Malformation syndrome
2760	OSLAM syndrome	183527, 68411, 93459	Malformation syndrome
2900	Leri pleonosteosis	93459	Malformation syndrome
3237	Multiple synostoses syndrome	90642, 93459	Malformation syndrome
3246	Symphalangism with multiple anomalies of hands and feet	294959, 93459	Malformation syndrome
3250	Proximal symphalangism	93459	Malformation syndrome
3268	Radioulnar synostosis-microcephaly-scoliosis syndrome	93459	Malformation syndrome
71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	477794, 93459	Malformation syndrome
3466	WT limb-blood syndrome	68383, 93459	Disease
157808	Isolated pseudoarthrosis of the limbs	109011, 364568, 404571	Morphological anomaly
295018	Congenital pseudoarthrosis of the tibia	157808	Clinical subtype
295020	Congenital pseudoarthrosis of the femur	157808	Clinical subtype
295022	Congenital pseudoarthrosis of the fibula	157808	Clinical subtype
295024	Congenital pseudoarthrosis of the radius	157808	Clinical subtype
295026	Congenital pseudoarthrosis of the ulna	157808	Clinical subtype
199315	Familial clubfoot with or without associated lower limb anomalies	109009, 364568, 404571, 404577	Malformation syndrome
238578	Familial clubfoot due to 17q23.1q23.2 microduplication	199315, 262968	Etiological subtype
293144	Familial clubfoot due to 5q31 microdeletion	199315	Etiological subtype
228184	Heart-hand syndrome	109009, 364568, 404571, 404577	Category
294949	Non-syndromic joint formation defects	109011, 364568, 404571	Category
3248	Isolated distal symphalangism	294949	Morphological anomaly
3265	Isolated humero-radial synostosis	294949	Morphological anomaly
3266	Isolated humero-radio-ulnar synostosis	294949	Morphological anomaly
3269	Isolated radio-ulnar synostosis	294949	Morphological anomaly
94056	Isolated humero-ulnar synostosis	294949	Morphological anomaly
295028	Isolated tibio-fibular synostosis	294949	Morphological anomaly
294955	Syndrome with limb reduction defects	109009, 364568	Category
488232	Split-foot malformation-mesoaxial polydactyly syndrome	102285, 294955, 294959, 330206, 404574, 79370, 90642	Malformation syndrome
3320	Thrombocytopenia-absent radius syndrome	294955, 404574, 477794	Malformation syndrome
84	Fanconi anemia	102283, 102285, 183422, 183466, 294955, 330206, 404574, 506213, 611327, 68383, 79375, 93614	Malformation syndrome
3103	Roberts syndrome	102283, 139039, 294955, 404574, 611327, 98648	Malformation syndrome
988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	294955, 404574	Malformation syndrome
989	Hypoglossia-hypodactyly syndrome	102283, 139036, 183576, 2749, 294955, 404574, 611327	Malformation syndrome
1112	Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome	294955, 404574	Malformation syndrome
1113	Aphalangy-syndactyly-microcephaly syndrome	294955, 294959, 404574	Malformation syndrome
1972	Lethal faciocardiomelic dysplasia	294955, 404574, 459787, 471383	Malformation syndrome
1988	Femoral-facial syndrome	102285, 139039, 294955, 330206, 404574	Malformation syndrome
2249	Ulna hypoplasia-intellectual disability syndrome	102283, 294955, 404574, 611327	Malformation syndrome
2307	IVIC syndrome	294955, 404574, 522520, 98683	Malformation syndrome
2310	Absence deformity of leg-cataract syndrome	294955, 404574, 522548, 98641	Malformation syndrome
2329	Karsch-Neugebauer syndrome	294955, 404574	Malformation syndrome
2564	Tetramelic monodactyly	294955, 404574	Malformation syndrome
2730	Postaxial tetramelic oligodactyly	294955, 404574	Malformation syndrome
2839	Pelvis-shoulder dysplasia	294955, 404574	Malformation syndrome
2854	Fuhrmann syndrome	139039, 294955, 294959, 404574	Malformation syndrome
2879	Phocomelia, Schinzel type	294955, 404574	Malformation syndrome
3016	Absent radius-anogenital anomalies syndrome	294955, 404574	Malformation syndrome
3021	RAPADILINO syndrome	102285, 139039, 294955, 330206, 404574	Malformation syndrome
3301	Tetraamelia-multiple malformations syndrome	102285, 294955, 330206, 404574, 522548, 98641	Malformation syndrome
3312	Thalidomide embryopathy	251529, 294955	Malformation syndrome
3328	Absent tibia-polydactyly-arachnoid cyst syndrome	102285, 294955, 294959, 330206, 404574	Malformation syndrome
3383	Humerus trochlea aplasia	294955, 404574	Malformation syndrome
71271	Split hand-split foot-deafness syndrome	102285, 294955, 294959, 330206, 404574, 90642	Malformation syndrome
93333	Pelviscapular dysplasia	294955, 404574	Malformation syndrome
329319	Thrombocythemia with distal limb defects	248401, 294955, 404574	Disease
1891	Intellectual disability-spasticity-ectrodactyly syndrome	102283, 294955, 404574, 611327	Malformation syndrome
2492	FATCO syndrome	294955, 294959, 404574	Malformation syndrome
508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	102283, 169349, 294955, 404574, 611327, 86836	Disease
221139	Combined immunodeficiency with facio-oculo-skeletal anomalies	102283, 169349, 294955, 404574, 506219, 611327	Disease
1326	Camptodactyly syndrome, Guadalajara type 2	102285, 294955, 330206, 404574	Malformation syndrome
294957	Dysostosis with combined reduction defects of upper and lower limbs	109009, 364568, 404571, 404577	Category
1121	Radial deficiency-tibial hypoplasia syndrome	294957	Malformation syndrome
1122	Ulnar hypoplasia-split foot syndrome	294957	Malformation syndrome
2019	Femur-fibula-ulna complex	294957	Malformation syndrome
294959	Syndrome with limb duplication, polydactyly, syndactyly, and/or hyperphalangy	109009, 364568, 404571, 404577	Category
658805	Greig cephalopolysyndactyly-contiguous gene syndrome	102285, 261911, 294959, 330206, 363250	Malformation syndrome
567502	B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome	102285, 165707, 229720, 294959, 330206	Disease
85203	Acropectoral syndrome	294959	Malformation syndrome
93409	Brachydactyly-syndactyly, Zhao type	294959	Malformation syndrome
357332	Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome	294959	Malformation syndrome
369979	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome	294959	Malformation syndrome
420584	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	294959, 95495	Malformation syndrome
957	Acropectorovertebral dysplasia	182108, 294959	Malformation syndrome
1003	Scalp defects-postaxial polydactyly syndrome	183481, 294959, 79380	Malformation syndrome
1388	Catel-Manzke syndrome	102283, 139039, 294959, 611327	Malformation syndrome
1757	Fibular dimelia-diplopodia syndrome	294959	Malformation syndrome
380	Greig cephalopolysyndactyly syndrome	102285, 294959, 330206, 363250	Malformation syndrome
2110	Hallux varus-preaxial polysyndactyly syndrome	294959	Malformation syndrome
2363	Lacrimoauriculodentodigital syndrome	102285, 139042, 156246, 183580, 294959, 330206, 435606, 98609	Malformation syndrome
2378	Laurin-Sandrow syndrome	294959	Malformation syndrome
2917	Polydactyly-myopia syndrome	294959	Malformation syndrome
2920	Oliver syndrome	102283, 294959, 611327	Malformation syndrome
2935	Crossed polysyndactyly	294959	Malformation syndrome
2947	Triphalangeal thumbs-brachyectrodactyly syndrome	294959	Malformation syndrome
2957	Guttmacher syndrome	165707, 294959	Malformation syndrome
3004	Mirror polydactyly-vertebral segmentation-limbs defects syndrome	294959	Malformation syndrome
3168	Sillence syndrome	294959	Malformation syndrome
3172	Eyebrow duplication-syndactyly syndrome	294959	Malformation syndrome
3255	Filippi syndrome	102283, 294959, 611327	Malformation syndrome
3258	Cenani-Lenz syndrome	294959	Malformation syndrome
3259	Syndactyly-polydactyly-ear lobe syndrome	294959	Malformation syndrome
476119	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	294959, 79365	Malformation syndrome
364198	Bipartite talus	109011, 364568, 404571	Morphological anomaly
364571	Dysostosis with limb and face anomalies as a major feature	364568, 404571	Category
2749	Oromandibular-limb hypogenesis syndrome	156215, 364571	Clinical group
141163	Glossopalatine ankylosis	2749	Malformation syndrome
199332	Endocrine-cerebro-osteodysplasia syndrome	101960, 364571, 459787, 471383	Malformation syndrome
364574	Acrofacial dysostosis	364571	Clinical group
949	Acrocraniofacial dysostosis	102285, 330206, 364574	Malformation syndrome
952	Acrofacial dysostosis, Weyers type	102285, 139036, 183576, 330206, 364574, 79373	Malformation syndrome
1131	X-linked mandibulofacial dysostosis	102283, 139036, 183576, 364574, 611327	Malformation syndrome
1784	Acrofrontofacionasal dysostosis	364574	Malformation syndrome
1786	Acrofacial dysostosis, Catania type	102283, 139036, 183576, 364574, 611327	Malformation syndrome
1788	Acrofacial dysostosis, Rodríguez type	102283, 139036, 183576, 364574, 611327	Malformation syndrome
1787	Acrofacial dysostosis, Palagonia type	139036, 183576, 364574	Malformation syndrome
64542	Acrofacial dysostosis, Kennedy-Teebi type	139036, 183576, 364574	Malformation syndrome
79113	Mandibulofacial dysostosis-microcephaly syndrome	102283, 139036, 139039, 183576, 364574, 611327	Malformation syndrome
3102	Richieri Costa-Pereira syndrome	102285, 139039, 330206, 364574	Malformation syndrome
2793	Otoonychoperoneal syndrome	102285, 330206, 364568, 404571, 79370	Malformation syndrome
3023	External auditory canal atresia-vertical talus-hypertelorism syndrome	102285, 156243, 330206, 364568, 404571	Malformation syndrome
1321	Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome	102283, 364568, 611327	Malformation syndrome
139021	Malformation syndrome with short stature	93890	Category
915	Aarskog-Scott syndrome	102283, 139021, 165707, 183570, 611327	Malformation syndrome
125	Bloom syndrome	139021, 169346, 183422, 183490, 183570, 611314, 68347, 79390	Disease
813	Silver-Russell syndrome	102283, 139021, 183422, 183570, 519296, 611327, 641343	Disease
96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	813, 98153	Etiological subtype
231137	Silver-Russell syndrome due to 7p11.2p13 microduplication	262749, 813	Etiological subtype
231140	Silver-Russell syndrome due to an imprinting defect of 11p15	813	Etiological subtype
231144	Silver-Russell syndrome due to 11p15 microduplication	262785, 813	Etiological subtype
231147	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11	813, 98153	Etiological subtype
397590	Silver-Russell syndrome due to a point mutation	813	Etiological subtype
1974	Autosomal recessive faciodigitogenital syndrome	102285, 139021, 165707, 183570, 330206	Malformation syndrome
2044	Floating-Harbor syndrome	102283, 139021, 183570, 611327	Malformation syndrome
2576	Mulibrey nanism	139021, 183570	Malformation syndrome
99741	King-Denborough syndrome	102283, 139021, 183570, 466658, 611327, 97245, 98742	Malformation syndrome
141333	Biemond syndrome type 2	102283, 139021, 611327	Disease
352712	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome	139021, 139027, 183570, 331217	Disease
391677	Short stature-optic atrophy-Pelger-Huët anomaly syndrome	139021, 183570, 441434	Malformation syndrome
423306	Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome	102283, 139021, 183570, 611327	Malformation syndrome
1937	Eng-Strom syndrome	139021, 183570	Malformation syndrome
456298	1p35.2 microdeletion syndrome	102283, 139021, 261857, 611327, 90642	Malformation syndrome
457240	X-linked intellectual disability-short stature-overweight syndrome	102283, 139021, 183570, 611327	Malformation syndrome
457365	Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome	102283, 139021, 183570, 611327	Malformation syndrome
1964	Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome	102283, 139021, 183466, 183570, 611327, 79375	Malformation syndrome
480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	102283, 139021, 183570, 611327	Malformation syndrome
2183	Hydrocephalus-obesity-hypogonadism syndrome	139021, 181441, 183570, 240371	Malformation syndrome
2714	Oculo-palato-cerebral syndrome	102283, 139021, 139039, 183570, 522548, 611327, 98641	Malformation syndrome
494439	Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome	102283, 139021, 183570, 611327, 716405, 90642	Malformation syndrome
476406	Congenital generalized hypercontractile muscle stiffness syndrome	139021, 183570, 284790, 476403	Disease
902	Werner syndrome	139021, 139027, 139033, 183422, 183570, 222628, 363245, 522548, 79389, 98641	Disease
611216	Aplastic anemia-intellectual disability-dwarfism syndrome	139021, 183570, 611314, 68383	Disease
694946	Alazami-Yuan syndrome	102283, 139021, 183570, 611327, 79365	Malformation syndrome
686488	RNU4-2-related autosomal dominant neurodevelopmental disorder	102283, 139021, 183570, 611327	Malformation syndrome
633004	KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome	102283, 139021, 183570, 611327	Disease
659702	Intrauterine growth retardation-micrognathia-short stature-facial dysmorphism-rhizomelic shortening syndrome	102283, 139021, 183570, 611327	Malformation syndrome
139024	Overgrowth/obesity syndrome	93890	Category
93460	Overgrowth syndrome	139024, 183573	Category
2128	Isolated hemihyperplasia	156207, 183422, 93460	Morphological anomaly
2849	Perlman syndrome	183422, 319328, 93460	Malformation syndrome
33445	Neuroectodermal melanolysosomal disease	139027, 166466, 183466, 522520, 79375, 93460, 98683	Malformation syndrome
93461	Chromosomal disease with overgrowth	93460	Category
1742	Trisomy 5p syndrome	262725, 93461, 98642	Malformation syndrome
96072	4p16.3 microduplication syndrome	262716, 93461	Malformation syndrome
314585	15q overgrowth syndrome	102283, 262950, 611327, 93461, 98642	Malformation syndrome
1707	Distal duplication 15q syndrome	314585	Etiological subtype
314588	Distal triplication 15q syndrome	314585	Etiological subtype
137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	102283, 611327, 93460	Malformation syndrome
90307	Parkes Weber syndrome	183478, 211266, 235832, 459537, 715466, 79379, 93460	Disease
293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	156638, 93460, 97978	Disease
404443	Tatton-Brown-Rahman syndrome	102283, 611327, 93460	Malformation syndrome
300305	11p15.4 microduplication syndrome	102283, 262785, 611327, 93460	Malformation syndrome
404476	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome	319328, 506213, 93460	Malformation syndrome
420179	Malan overgrowth syndrome	102283, 611327, 93460	Malformation syndrome
457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	102283, 611327, 93460	Malformation syndrome
530313	PIK3CA-related overgrowth syndrome	93460	Clinical group
60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	102283, 183422, 183478, 458830, 530313, 611327, 715453, 79379	Malformation syndrome
314662	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	530313	Disease
295239	Macrodactyly of fingers, unilateral	295044, 530313	Clinical subtype
295243	Macrodactyly of toes, unilateral	295047, 530313	Clinical subtype
583097	Congenital infiltrating lipomatosis of the face	530313	Disease
168984	CLAPO syndrome	530313, 715460	Malformation syndrome
642675	CHD8 overgrowth syndrome	102283, 611327, 93460	Disease
240371	Syndromic obesity	139024, 77828	Category
819	Smith-Magenis syndrome	102283, 180772, 240371, 261965, 611327	Malformation syndrome
908	Fragile X syndrome	102283, 166469, 180772, 240371, 306765, 522520, 611327, 98683	Malformation syndrome
739	Prader-Willi syndrome	102283, 181387, 240371, 399846, 611327, 641343, 98033	Disease
98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	739, 98153	Etiological subtype
98793	Prader-Willi syndrome due to paternal 15q11q13 deletion	262119, 739	Etiological subtype
177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	98793	Etiological subtype
177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	98793	Etiological subtype
177907	Prader-Willi syndrome due to translocation	739	Etiological subtype
177910	Prader-Willi syndrome due to imprinting mutation	739	Etiological subtype
192	Coffin-Lowry syndrome	102283, 240371, 611327	Malformation syndrome
193	Cohen syndrome	102283, 240371, 331184, 611327, 716405	Malformation syndrome
276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	102283, 240371, 611327	Malformation syndrome
1435	Xq21 microdeletion syndrome	240371, 716342, 90642	Malformation syndrome
2563	MOMO syndrome	240371	Malformation syndrome
3459	Wilson-Turner syndrome	102283, 240371, 611327	Malformation syndrome
75858	MORM syndrome	156165, 240371, 611314, 716405	Disease
85282	MEHMO syndrome	102283, 225700, 225703, 240371, 611327	Malformation syndrome
261222	Distal 16p11.2 microdeletion syndrome	240371, 261956	Malformation syndrome
352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	102283, 240371, 611327	Disease
369950	Intellectual disability-seizures-macrocephaly-obesity syndrome	102283, 240371, 263708, 611327	Disease
397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	102283, 240371, 611327	Disease
398073	Prader-Willi-like syndrome	102283, 181387, 240371, 399846, 611327, 98033	Clinical group
633028	CPE-related Prader-Willi-like syndrome	398073	Disease
171829	6q16 microdeletion syndrome	262047, 398073	Disease
398079	SIM1-related Prader-Willi-like syndrome	398073	Disease
398069	Schaaf-Yang syndrome	398073, 641343	Disease
99704	Early-onset obesity-hyperphagia-severe developmental delay syndrome	180772, 240371, 611314	Disease
254516	Temple syndrome	102283, 240371, 611327, 641343	Malformation syndrome
96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	254516, 98153	Etiological subtype
254525	Temple syndrome due to paternal 14q32.2 microdeletion	254516, 262110	Etiological subtype
254531	Temple syndrome due to paternal 14q32.2 hypomethylation	254516	Etiological subtype
521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	100979, 240371, 611314	Malformation syndrome
589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	102283, 240371, 611327, 98033	Disease
652487	Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome	240371, 611314	Malformation syndrome
293987	Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome	101944, 156610, 240371	Disease
620363	Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome	183592, 240371, 309848, 611314, 93603	Disease
600731	Clark-Baraitser syndrome	102283, 240371, 611327	Malformation syndrome
647799	MYT1L-related developmental delay-intellectual disability-obesity syndrome	240371, 611314, 98033	Disease
139027	Rare developmental defect with skin/mucosae involvement	183530, 93890	Category
100	Ataxia-telangiectasia	139027, 166466, 169346, 183422, 183478, 252190, 485382, 519341, 522506, 522520, 611314, 79379, 95710, 98097, 98683	Disease
191	Cockayne syndrome	102283, 139027, 139033, 182070, 183422, 183500, 363245, 611327, 716405, 79389, 90642	Disease
90321	Cockayne syndrome type 1	191	Clinical subtype
90322	Cockayne syndrome type 2	191	Clinical subtype
90324	Cockayne syndrome type 3	191	Clinical subtype
3440	Waardenburg syndrome	102285, 139027, 183469, 330206, 79376, 90642	Disease
895	Waardenburg syndrome type 2	3440	Clinical subtype
113	Bazex-Dupré-Christol syndrome	139027, 183487, 79386	Disease
37	Acrodermatitis enteropathica	104005, 139027, 309845, 363306, 79217, 79387	Disease
1116	Aplasia cutis congenita-intestinal lymphangiectasia syndrome	117569, 139027, 165655, 183481, 568044, 79380	Disease
1117	Aplasia cutis-myopia syndrome	139027, 183481, 716405, 79380	Disease
1662	Restrictive dermopathy	102283, 139027, 300766, 611327	Disease
2272	Ichthyosis-oral and digital anomalies syndrome	102285, 139027, 281244, 330206	Malformation syndrome
2273	Ichthyosis follicularis-alopecia-photophobia syndrome	139027, 281210, 481771, 79364	Disease
2309	Pachyonychia congenita	139027, 79370, 98353	Disease
2959	Progeria-short stature-pigmented nevi syndrome	139027, 139033, 363245, 79389	Malformation syndrome
3455	Wiedemann-Rautenstrauch syndrome	102283, 139027, 139033, 363245, 611327, 79389, 98305	Malformation syndrome
2295	Familial articular hypermobility syndrome	139027, 139030, 182222, 228215, 271870	Disease
697356	Congenital scalp aplasia cutis-enamel hypoplasia-developmental delay-intellectual disability syndrome	102283, 139027, 139042, 611327, 79359	Malformation syndrome
257	Epidermolysis bullosa simplex with muscular dystrophy	139027, 206644, 209196, 519288, 522558, 595351	Disease
305	Junctional epidermolysis bullosa	139027, 79361	Clinical group
79403	Junctional epidermolysis bullosa with pyloric atresia	305, 98027	Disease
79404	Severe generalized junctional epidermolysis bullosa	305, 519288, 522558, 98027	Disease
79405	Junctional epidermolysis bullosa inversa	305, 98027	Disease
79406	Late-onset junctional epidermolysis bullosa	305, 98027	Disease
251393	Localized junctional epidermolysis bullosa	305, 98027	Disease
231556	Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome	305, 611314, 98027	Disease
306504	Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome	264670, 264992, 305, 567562	Disease
79402	Intermediate generalized junctional epidermolysis bullosa	305, 98027	Disease
303	Dystrophic epidermolysis bullosa	139027, 79361	Clinical group
79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	303, 519288, 522558	Disease
79409	Recessive dystrophic epidermolysis bullosa inversa	303	Disease
595356	Localized dystrophic epidermolysis bullosa	303	Disease
79410	Localized dystrophic epidermolysis bullosa, pretibial form	595356	Clinical subtype
158673	Localized dystrophic epidermolysis bullosa, acral form	595356	Clinical subtype
158676	Localized dystrophic epidermolysis bullosa, nails only	595356	Clinical subtype
79411	Self-improving dystrophic epidermolysis bullosa	303	Disease
89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	303, 519288, 522558	Disease
89843	Dystrophic epidermolysis bullosa pruriginosa	303	Disease
231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	303	Disease
530	Lipoid proteinosis	139027, 477808, 79381	Malformation syndrome
79143	Isolated congenital anonychia	139027, 79369	Disease
90390	Anonychia-onychodystrophy syndrome	79143	Clinical subtype
94150	Anonychia congenita totalis	79143	Clinical subtype
79373	Ectodermal dysplasia syndrome	139027, 183447, 79362	Category
3200	Arthrogryposis-ectodermal dysplasia syndrome	79373, 97120	Malformation syndrome
464	Incontinentia pigmenti	166466, 611314, 716459, 717348, 79373, 98027	Malformation syndrome
477	KID syndrome	281244, 307804, 519290, 522566, 79373, 90642, 98352	Disease
189	Hidrotic ectodermal dysplasia	522548, 79373, 98352, 98641	Disease
1946	Amelocerebrohypohidrotic syndrome	139042, 183580, 611314, 79373	Malformation syndrome
1005	Alopecia-contractures-dwarfism-intellectual disability syndrome	102283, 611327, 79373	Malformation syndrome
1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia	79373, 98352	Disease
1028	Amelo-onycho-hypohidrotic syndrome	79373	Malformation syndrome
1174	Cerebellar ataxia-ectodermal dysplasia syndrome	79373	Malformation syndrome
1262	Böök syndrome	79373	Malformation syndrome
1264	Tricho-retino-dento-digital syndrome	522548, 716405, 79373, 98641	Malformation syndrome
1366	Autosomal recessive palmoplantar keratoderma and congenital alopecia	307804, 522548, 79373, 98641	Disease
1375	Cataract-hypertrichosis-intellectual disability syndrome	522548, 611314, 79365, 79373, 98641	Malformation syndrome
1433	Choroidal atrophy-alopecia syndrome	716299, 79373	Malformation syndrome
1484	Contractures-ectodermal dysplasia-cleft lip/palate syndrome	102283, 139039, 611327, 79373	Malformation syndrome
1563	Dahlberg-Borer-Newcomer syndrome	102285, 181402, 330206, 522548, 568044, 79373, 98641	Malformation syndrome
1573	Hypotrichosis with juvenile macular degeneration	716427, 79373	Malformation syndrome
1657	Dermatoosteolysis, Kirghizian type	79373	Malformation syndrome
1660	Dermoodontodysplasia	139042, 183580, 79373	Malformation syndrome
2251	Thumb deformity-alopecia-pigmentation anomaly syndrome	109009, 404577, 79373	Malformation syndrome
1808	Hidrotic ectodermal dysplasia, Christianson-Fourie type	79373	Malformation syndrome
1809	Hidrotic ectodermal dysplasia, Halal type	102283, 611327, 79373	Malformation syndrome
1812	Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome	102283, 611327, 79373	Malformation syndrome
1882	Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome	177107, 79373	Malformation syndrome
1883	Ectodermal dysplasia-sensorineural deafness syndrome	79373, 90642	Malformation syndrome
1816	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome	102283, 611327, 79373	Malformation syndrome
1818	Ectodermal dysplasia, trichoodontoonychial type	139042, 183580, 79373	Malformation syndrome
2026	Gingival fibromatosis-hypertrichosis syndrome	139042, 183580, 79365, 79373	Malformation syndrome
2036	Scalp-ear-nipple syndrome	102285, 180173, 183481, 330206, 522548, 79373, 79380, 98641	Malformation syndrome
2067	GAPO syndrome	102283, 139042, 183580, 441434, 522564, 611327, 79373, 98623	Malformation syndrome
2220	Hypertrichosis cubiti	79365, 79373	Malformation syndrome
2222	Hypertrichosis lanuginosa congenita	79365, 79373	Disease
1023	Congenital generalized hypertrichosis, Ambras type	2222	Clinical subtype
79495	X-linked congenital generalized hypertrichosis	2222	Clinical subtype
2228	Hypodontia-dysplasia of nails syndrome	139042, 183580, 79373	Malformation syndrome
2316	Johnson neuroectodermal syndrome	102283, 611327, 79373	Malformation syndrome
2561	Pyramidal molars-abnormal upper lip syndrome	102285, 139042, 183580, 330206, 79373	Malformation syndrome
2713	Oculoosteocutaneous syndrome	522520, 79373, 98683	Malformation syndrome
2718	Oculotrichodysplasia	716393, 79373	Malformation syndrome
2721	Odonto-onycho-dermal dysplasia	139042, 183580, 307804, 79373	Disease
2722	Odonto-onycho dysplasia-alopecia syndrome	139042, 183580, 79373	Malformation syndrome
2723	Odontotrichomelic syndrome	139039, 139042, 183580, 79373	Malformation syndrome
678	Papillon-Lefèvre syndrome	139042, 183580, 307804, 309340, 674648, 79373	Disease
2890	Pili torti-onychodysplasia syndrome	79373	Malformation syndrome
2892	Pilodental dysplasia-refractive errors syndrome	139042, 183580, 79373	Malformation syndrome
2930	Cronkhite-Canada syndrome	104010, 79373	Disease
3194	Corneodermatoosseous syndrome	79373, 98628	Malformation syndrome
3220	Deafness-enamel hypoplasia-nail defects syndrome	139042, 183580, 79373, 90642	Malformation syndrome
3231	Deafness-onychodystrophy syndrome	102283, 522548, 611327, 79370, 79373, 90642, 98641	Clinical group
79499	Autosomal dominant deafness-onychodystrophy syndrome	3231	Malformation syndrome
79500	DOORS syndrome	3231	Malformation syndrome
3236	Conductive deafness-ptosis-skeletal anomalies syndrome	79373	Malformation syndrome
3339	Oculoectodermal syndrome	79373	Malformation syndrome
3351	Trichodental syndrome	139042, 183580, 79367, 79373	Malformation syndrome
3353	Trichodermodysplasia-dental alterations syndrome	139042, 183580, 79373	Malformation syndrome
3355	Trichoodontoonychial dysplasia	139042, 183580, 79373	Malformation syndrome
3363	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	102283, 611327, 716342, 79373	Malformation syndrome
33364	Trichothiodystrophy	281222, 399771, 522548, 611314, 79367, 79373, 98641	Disease
50944	Schöpf-Schulz-Passarge syndrome	139042, 183422, 183580, 307804, 79373	Disease
69082	Odonto-tricho-ungual-digito-palmar syndrome	139042, 183580, 79373	Malformation syndrome
69083	Ectodermal dysplasia with natal teeth, Turnpenny type	139042, 183580, 79373	Malformation syndrome
69084	Pure hair and nail ectodermal dysplasia	79373	Malformation syndrome
69087	Naegeli-Franceschetti-Jadassohn syndrome	183466, 79373, 79375, 98352	Disease
69125	Anonychia with flexural pigmentation	79370, 79373	Malformation syndrome
79129	Trichodysplasia-amelogenesis imperfecta syndrome	139042, 183580, 79373	Malformation syndrome
86920	Dermatopathia pigmentosa reticularis	183466, 79373, 79375, 98352	Disease
98609	EEC syndrome and related disorders	522532, 79373, 98602	Category
99672	Fried's tooth and nail syndrome	79373	Malformation syndrome
99688	Dermotrichic syndrome	79373	Malformation syndrome
140936	Lelis syndrome	79373	Malformation syndrome
158668	Ectodermal dysplasia-skin fragility syndrome	79373	Disease
238468	Hypohidrotic ectodermal dysplasia	79373, 98027, 98604	Disease
181	X-linked hypohidrotic ectodermal dysplasia	238468	Etiological subtype
248	Autosomal recessive hypohidrotic ectodermal dysplasia	238468	Etiological subtype
1810	Autosomal dominant hypohidrotic ectodermal dysplasia	238468	Etiological subtype
247820	Ectodermal dysplasia-pili torti-cutaneous syndactyly syndrome	79373	Malformation syndrome
247827	Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome	79373	Malformation syndrome
307766	Curly hair-acral keratoderma-caries syndrome	139042, 79373, 98352	Disease
307936	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome	139042, 79373, 98353	Disease
3253	Cleft lip/palate-ectodermal dysplasia syndrome	139039, 611314, 79373	Malformation syndrome
398166	Focal facial dermal dysplasia	79373	Malformation syndrome
1807	Focal facial dermal dysplasia type III	398166	Clinical subtype
79133	Focal facial dermal dysplasia type I	398166	Clinical subtype
398173	Focal facial dermal dysplasia type II	398166	Clinical subtype
398189	Focal facial dermal dysplasia type IV	398166	Clinical subtype
423454	Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome	183466, 79373, 79375, 98357	Disease
1401	CHAND syndrome	156237, 79373	Malformation syndrome
293165	Skin fragility-woolly hair-palmoplantar keratoderma syndrome	307804, 434809, 79373	Disease
2266	Hypotrichosis-intellectual disability, Lopes type	102283, 611327, 79373	Disease
447961	Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome	140162, 183463, 307804, 481771, 77830, 79364, 79373, 79374, 98027	Disease
685067	Hypodontia-scalp hypotrichosis-facial dysmorphism syndrome	102285, 330206, 79373, 98027	Disease
98813	Hypohidrotic ectodermal dysplasia with immunodeficiency	331217, 506219, 79373, 98027, 98604	Disease
98249	Ehlers-Danlos syndrome	139027, 139030, 182222, 228215, 619249	Clinical group
285	Hypermobile Ehlers-Danlos syndrome	98249	Disease
286	Vascular Ehlers-Danlos syndrome	285014, 98249	Disease
536545	Kyphoscoliotic Ehlers-Danlos syndrome	98249	Disease
1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	519296, 536545	Clinical subtype
300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	536545	Clinical subtype
1899	Arthrochalasia Ehlers-Danlos syndrome	98249	Disease
1901	Dermatosparaxis Ehlers-Danlos syndrome	98249	Disease
75392	Periodontal Ehlers-Danlos syndrome	98027, 98249	Disease
536471	Spondylodysplastic Ehlers-Danlos syndrome	98249	Disease
75497	X-linked Ehlers-Danlos syndrome	98249	Disease
90354	Brittle cornea syndrome	98249, 98628	Disease
536516	Myopathic Ehlers-Danlos syndrome	97242, 98249	Disease
636941	Vascular Ehlers-Danlos-polymicrogyria syndrome	98249	Disease
289465	Isolated congenital adermatoglyphia	139027	Disease
438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	139027, 139033, 182070, 183422, 183500, 363245, 611314, 79389, 90642	Disease
139030	Rare developmental defect with connective tissue involvement	183530, 93890	Category
79094	Grange syndrome	102283, 102285, 139030, 330206, 611327	Malformation syndrome
171719	Cutis laxa-Marfanoid syndrome	139030, 284993	Malformation syndrome
300284	Connective tissue disorder due to lysyl hydroxylase-3 deficiency	139030, 182222, 619249, 90642	Disease
314041	Marfanoid habitus-inguinal hernia-advanced bone age syndrome	139030	Malformation syndrome
697101	Fontaine progeroid syndrome	139030, 139033, 182222, 619249, 79389	Disease
2963	Progeroid syndrome, Petty type	697101	Clinical subtype
2095	Gorlin-Chaudhry-Moss syndrome	697101	Clinical subtype
139033	Progeroid syndrome	93890	Category
508	Donohue syndrome	102285, 139033, 181368, 330206, 363245, 79365	Malformation syndrome
528	Congenital generalized lipodystrophy	102283, 139033, 181368, 363245, 611327, 98305	Disease
696289	Congenital generalized lipodystrophy type 2	528	Clinical subtype
696242	PPARG-associated congenital generalized lipodystrophy	528	Clinical subtype
696206	Congenital generalized lipodystrophy type 3	528	Clinical subtype
696189	Congenital generalized lipodystrophy type 1	528	Clinical subtype
228429	Congenital generalized lipodystrophy type 4	528	Clinical subtype
2348	Familial partial lipodystrophy, Dunnigan type	139033, 300763, 363245, 98306	Disease
2985	Pseudoprogeria syndrome	102283, 139033, 363245, 611327	Malformation syndrome
2909	Rothmund-Thomson syndrome	139033, 183490, 222628, 363245, 79390, 98649	Disease
221008	Rothmund-Thomson syndrome type 1	2909	Clinical subtype
221016	Rothmund-Thomson syndrome type 2	183422, 2909	Clinical subtype
79474	Atypical Werner syndrome	139033, 300766, 363245	Disease
276432	Ogden syndrome	102283, 139033, 363245, 611327	Malformation syndrome
363649	Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome	139033, 363245, 79389, 90642, 98305	Disease
363665	Acroosteolysis-keloid-like lesions-premature aging syndrome	139033, 363245, 79389	Disease
435953	Progeroid features-hepatocellular carcinoma predisposition syndrome	139033, 140162, 363245	Disease
659873	Wormian bones-micrognathia-abnormal dentition-progeroid syndrome	102285, 139033, 139042, 330206, 363245	Malformation syndrome
139036	Branchial arch or oral-acral syndrome	93890	Category
2213	Hypertelorism-microtia-facial clefting syndrome	102283, 139036, 139039, 183576, 611327	Malformation syndrome
2792	Otofaciocervical syndrome	102283, 139036, 183576, 611327	Malformation syndrome
231742	Epibulbar lipodermoid-preauricular appendage-polythelia syndrome	139036, 183576	Malformation syndrome
139042	Malformation syndrome with odontal and/or periodontal component	93890, 98026	Category
2720	Oculocerebral hypopigmentation syndrome, Preus type	102283, 139042, 183580, 284811, 522548, 611327, 98641	Malformation syndrome
576278	SATB2-associated syndrome	102283, 139042, 156237, 611327, 77830	Malformation syndrome
251028	SATB2-associated syndrome due to a chromosomal rearrangement	262010, 576278	Etiological subtype
576283	SATB2-associated syndrome due to a pathogenic variant	576278	Etiological subtype
627	Nance-Horan syndrome	102283, 139042, 183580, 611327, 98649	Malformation syndrome
1031	Enamel-renal syndrome	139042, 183580, 506213, 93593	Malformation syndrome
3196	Steroid dehydrogenase deficiency-dental anomalies syndrome	101940, 139042, 183580	Disease
1811	Odontomicronychial dysplasia	139042, 79370	Malformation syndrome
1873	Jalili syndrome	139042, 183580, 716405	Malformation syndrome
2010	Cleft palate-stapes fixation-oligodontia syndrome	139042, 183580	Malformation syndrome
2025	Gingival fibromatosis-facial dysmorphism syndrome	102285, 139042, 183580, 330206	Malformation syndrome
2027	Gingival fibromatosis-progressive deafness syndrome	139042, 183580, 90642	Malformation syndrome
2342	Haim-Munk syndrome	139042, 183580, 307804, 309340	Disease
2709	Oculodental syndrome, Rutherfurd type	139042, 183580, 98628	Malformation syndrome
2719	Oculocerebral hypopigmentation syndrome, Cross type	102283, 139042, 183580, 284811, 522548, 611327, 98641	Malformation syndrome
2724	Odontomatosis-aortae esophagus stenosis syndrome	139042, 183580	Malformation syndrome
2791	Otodental syndrome	139042, 183580, 262092	Malformation syndrome
2916	Postaxial polydactyly-dental and vertebral anomalies syndrome	139042, 183580	Malformation syndrome
2972	Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome	139042, 183580	Malformation syndrome
3184	Steatocystoma multiplex-natal teeth syndrome	139042, 183460, 183580, 79372	Malformation syndrome
3230	Deafness-oligodontia syndrome	139042, 183580, 90642	Malformation syndrome
562559	Anterior maxillary protrusion-strabismus-intellectual disability syndrome	102283, 139042, 522520, 611327, 77830, 98683	Malformation syndrome
3473	Zimmermann-Laband syndrome	102283, 139042, 183580, 611327	Malformation syndrome
99806	Oculootodental syndrome	139042, 183580, 262092	Malformation syndrome
180766	Malformative syndrome with dentinogenesis imperfecta	139042, 77830	Category
71267	Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome	102283, 180766, 183580, 611327, 90642	Malformation syndrome
401911	AXIN2-related polyposis	104010, 139042	Disease
684232	Intellectual disability-epilepsy-dental anomalies-facial dysmorphism syndrome	102283, 139042, 166472, 183580, 611327	Malformation syndrome
598603	Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome	102283, 139042, 183580, 611327, 79365	Malformation syndrome
155832	Rare head and neck malformation	93890	Category
1991	Cleft lip with or without cleft palate	155832, 68329	Clinical group
141291	Cleft lip and alveolus	1991	Morphological anomaly
199302	Isolated cleft lip	1991	Morphological anomaly
199306	Cleft lip/palate	1991	Morphological anomaly
2699	Median nodule of the upper lip	155832	Malformation syndrome
2014	Cleft palate	155832, 68329	Clinical group
99771	Bifid uvula	2014	Morphological anomaly
99772	Cleft velum	2014	Morphological anomaly
101023	Cleft hard palate	2014	Morphological anomaly
155878	Submucosal cleft palate	2014	Morphological anomaly
664372	Soft and hard cleft palate	2014	Morphological anomaly
1166	Congenital unilateral hypoplasia of depressor anguli oris	155832	Morphological anomaly
96333	Rare otorhinolaryngological malformation	155832, 98036	Category
155835	Cysts and fistulae of the face and oral cavity	96333	Category
93953	Familial thyroglossal duct cyst	155835, 95718	Morphological anomaly
141013	First branchial cleft anomaly	155835	Morphological anomaly
141022	Second branchial cleft anomaly	155835	Morphological anomaly
141030	Third branchial cleft anomaly	155835	Morphological anomaly
141037	Fourth branchial cleft anomaly	155835	Morphological anomaly
141046	Cervical dermoid cyst	155835	Morphological anomaly
141051	Facial dermoid cyst	155835	Morphological anomaly
141061	Commissural lip fistula	155835	Morphological anomaly
141064	Isolated lower lip fistula	155835	Morphological anomaly
141067	Cervicofacial fibrochondroma	155835	Morphological anomaly
141071	Isolated digestive duplication cyst of the tongue	155835	Morphological anomaly
141103	Nasal dermoid cyst	155835	Morphological anomaly
141219	Nasal dorsum fistula	155835	Morphological anomaly
155838	Pinnae fistula or cyst	155835	Morphological anomaly
156243	Pinnae and external auditory canal anomaly	435603, 96333	Category
83463	Microtia	156243	Morphological anomaly
93976	Anotia	156243	Morphological anomaly
141074	External auditory canal aplasia/hypoplasia	156243	Morphological anomaly
500188	X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome	156243, 90642	Malformation syndrome
156246	Nose and cavum anomaly	96333	Category
99141	Lymphedema-posterior choanal atresia syndrome	156246, 2415, 289825, 435606	Malformation syndrome
2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	102285, 156246, 181387, 330206, 435606, 522548, 98641	Disease
1200	Burn-McKeown syndrome	102285, 156246, 330206, 435606, 90642	Malformation syndrome
1252	Blepharonasofacial malformation syndrome	102283, 156246, 435606, 611327	Malformation syndrome
2695	Bifid nose	141234, 156246, 435606	Malformation syndrome
3026	Radial ray hypoplasia-choanal atresia syndrome	156246, 435606, 522520, 98683	Malformation syndrome
1134	Isolated arrhinia	156246	Malformation syndrome
137622	Intractable diarrhea-choanal atresia-eye anomalies syndrome	156246, 363300, 435606, 73014	Malformation syndrome
137914	Choanal atresia	156246	Morphological anomaly
137917	Choanal atresia, unilateral	137914	Clinical subtype
137920	Choanal atresia, bilateral	137914	Clinical subtype
141091	Polyrrhinia	156246	Malformation syndrome
141096	Supernumerary nostril	156246	Malformation syndrome
141099	Proboscis lateralis	156246	Malformation syndrome
141112	Nasal glial heterotopia	156246, 98061	Disease
162516	Isolated congenital nasal pyriform aperture stenosis	156246	Malformation syndrome
466695	Supratip dysplasia	156246	Morphological anomaly
589856	Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	102283, 156246, 177107, 181402, 435606, 611327, 90642	Malformation syndrome
156249	Larynx anomaly	96333	Category
2373	Congenital laryngomalacia	156249, 435609	Malformation syndrome
2374	Isolated congenital laryngeal web	156249, 435609	Malformation syndrome
1202	Larynx atresia	156249, 435609	Malformation syndrome
2372	Laryngocele	156249	Malformation syndrome
2291	Congenital velopharyngeal incompetence	156249, 435609	Morphological anomaly
2808	Laryngeal abductor paralysis	156249, 435609	Malformation syndrome
137926	Primary laryngeal lymphangioma	156249	Malformation syndrome
137932	Congenital laryngeal palsy	156249, 182086	Malformation syndrome
137935	Airway infantile hemangioma	156249, 210589	Disease
141121	Congenital subglottic stenosis	156249	Malformation syndrome
141124	Congenital laryngeal cyst	156249	Morphological anomaly
156252	Tracheal anomaly	96333	Category
141127	Congenital tracheal stenosis	156252, 435612	Morphological anomaly
164004	Middle and/or inner ear anomaly	96333	Category
502318	Cochlear nerve deficiency	164004	Morphological anomaly
686556	Isolated congenital cholesteatoma of the middle ear	164004	Morphological anomaly
502305	Cochleovestibular malformation	164004	Morphological anomaly
162526	Isolated congenital auditory ossicle malformation	164004	Morphological anomaly
141229	Facial cleft	155832, 68329	Category
141234	Median facial cleft	141229	Clinical group
2006	Median cleft lip/mandible	141234	Morphological anomaly
141239	Median cleft of the upper lip and maxilla	141234	Morphological anomaly
141288	Midline cervical cleft	141234	Morphological anomaly
401942	Familial median cleft of the upper and lower lips	141234, 414726	Malformation syndrome
141253	Oblique facial cleft	141229	Clinical group
141258	Tessier number 4 facial cleft	141253, 414726	Morphological anomaly
141261	Tessier number 5 facial cleft	141253	Morphological anomaly
141265	Tessier number 6 facial cleft	141253	Morphological anomaly
155884	Coloboma of superior eyelid	141253	Morphological anomaly
155889	Coloboma of inferior eyelid	141253	Morphological anomaly
141269	Lateral facial cleft	141229, 414726	Clinical group
141276	Tessier number 7 facial cleft	141269	Morphological anomaly
155867	Paramedian facial cleft	141229	Clinical group
141242	Paramedian nasal cleft	155867	Morphological anomaly
156207	Macroglossia	155832, 183583, 68329	Category
2430	Congenital macroglossia	156207	Malformation syndrome
141145	Hemifacial hyperplasia	156207	Malformation syndrome
141148	Hemifacial myohyperplasia	156207	Malformation syndrome
156212	Hypoglossia/aglossia	155832, 183583, 68329	Category
141152	Isolated congenital hypoglossia/aglossia	156212	Morphological anomaly
563954	Isolated congenital hypoglossia	141152	Clinical subtype
563951	Isolated congenital aglossia	141152	Clinical subtype
156215	Oromandibular-limb anomalies syndrome	156212	Category
156224	Paralytic facial malformation	155832, 183583, 68329	Category
156237	Syndrome or malformation associated with head and neck malformations	155832, 183583, 68329, 98036	Category
458833	Common cystic lymphatic malformation	156237, 2415	Clinical group
79489	Macrocystic lymphatic malformation	458833	Malformation syndrome
79490	Microcystic lymphatic malformation	458833	Malformation syndrome
458792	Mixed cystic lymphatic malformation	458833	Malformation syndrome
1600	Monosomy 18q syndrome	156237, 262146, 98642	Malformation syndrome
718	Isolated Pierre Robin sequence	156237	Malformation syndrome
888	Van der Woude syndrome	102285, 156237, 330206	Malformation syndrome
1150	Arthrogryposis multiplex congenita-whistling face syndrome	1037, 156237	Malformation syndrome
1248	Maxillonasal dysplasia	102285, 156237, 330206, 90642	Malformation syndrome
2215	Multiple pterygium-malignant hyperthermia syndrome	1037, 156237, 466658	Malformation syndrome
2461	Marden-Walker syndrome	102283, 1037, 156237, 611327	Malformation syndrome
2952	Adducted thumbs-arthrogryposis syndrome, Christian type	1037, 156237	Malformation syndrome
2460	Van den Ende-Gupta syndrome	102285, 1037, 156237, 330206	Malformation syndrome
138044	Rare disease with Pierre Robin syndrome	156237	Category
138041	Pierre Robin syndrome associated with collagen disease	138044, 363294	Category
138047	Pierre Robin syndrome associated with a chromosomal anomaly	138044, 363294	Category
436003	Contractures-developmental delay-Pierre Robin syndrome	102283, 138047, 262038, 611327	Malformation syndrome
261323	21q22.11q22.12 microdeletion syndrome	102283, 138047, 262173, 477794, 611327	Malformation syndrome
138050	Pierre Robin syndrome associated with branchial archs anomalies	138044, 363294	Category
138055	Pierre Robin syndrome associated with bone disease	138044, 363294	Category
138059	Teratogenic Pierre Robin syndrome	138044	Category
1920	Toluene embryopathy	138059, 251529	Malformation syndrome
1923	Methimazole embryofetopathy	138059, 251529	Malformation syndrome
2209	Maternal phenylketonuria syndrome	102283, 138059, 251535, 611327, 708881	Malformation syndrome
2216	Maternal hyperthermia-induced birth defects	138059, 251535	Malformation syndrome
2305	Isotretinoin syndrome	138059, 251529	Malformation syndrome
1915	Fetal alcohol syndrome	138059, 251529	Malformation syndrome
295	Fetal parvovirus syndrome	138059, 232035	Malformation syndrome
1908	Aminopterin/methotrexate embryofetopathy	138059, 251529	Malformation syndrome
1909	Indomethacin embryofetopathy	138059, 251529	Malformation syndrome
1910	Fetal iodine syndrome	138059, 238696, 251529	Malformation syndrome
1911	Cocaine embryofetopathy	138059, 251529	Malformation syndrome
1918	Fetal minoxidil syndrome	138059, 251529	Malformation syndrome
1912	Fetal hydantoin syndrome	138059, 370068	Malformation syndrome
1913	Fetal trimethadione syndrome	138059, 370068	Malformation syndrome
1914	Vitamin K antagonist embryofetopathy	138059, 251529	Malformation syndrome
1917	Fetal methylmercury syndrome	138059, 251529	Malformation syndrome
1919	Phenobarbital embryopathy	138059, 370068	Malformation syndrome
485358	Propylthiouracil embryofetopathy	138059, 251529	Malformation syndrome
364577	Intellectual disability-brachydactyly-Pierre Robin syndrome	102283, 138044, 363294, 611327	Malformation syndrome
139039	Orofacial clefting syndrome	156237	Category
124	Diamond-Blackfan anemia	139039, 183422, 611314, 68383, 79191	Disease
1358	Carey-Fineman-Ziter syndrome	102283, 139039, 611327, 97245	Malformation syndrome
921	Abruzzo-Erickson syndrome	102285, 139039, 165707, 330206	Malformation syndrome
1226	Bamforth-Lazarus syndrome	139039, 177107	Malformation syndrome
1241	Bencze syndrome	102285, 139039, 330206	Malformation syndrome
1297	Branchio-oculo-facial syndrome	102285, 139039, 330206	Malformation syndrome
1512	Crane-Heise syndrome	102283, 139039, 611327	Malformation syndrome
2001	Cleft lip/palate-intestinal malrotation-cardiopathy syndrome	102285, 139039, 330206	Malformation syndrome
2003	Cleft lip/palate-deafness-sacral lipoma syndrome	139039, 90642	Malformation syndrome
2008	Acrocardiofacial syndrome	102283, 139039, 611327	Malformation syndrome
2013	Cleft palate-large ears-small head syndrome	139039	Malformation syndrome
2016	Cleft palate-lateral synechia syndrome	102285, 139039, 330206	Malformation syndrome
2075	Genitopalatocardiac syndrome	102285, 139039, 330206, 98087	Malformation syndrome
376	Gordon syndrome	102285, 139039, 330206, 97120	Malformation syndrome
2167	Holzgreve syndrome	102285, 139039, 330206	Malformation syndrome
2319	Juberg-Hayward syndrome	102285, 139039, 330206	Malformation syndrome
2328	Kapur-Toriello syndrome	102283, 139039, 611327	Malformation syndrome
2476	Dysraphism-cleft lip/palate-limb reduction defects syndrome	139039	Malformation syndrome
2511	Microbrachycephaly-ptosis-cleft lip syndrome	102283, 139039, 522520, 611327, 98683	Malformation syndrome
2521	Microcephaly-cleft palate-abnormal retinal pigmentation syndrome	102283, 139039, 611327	Malformation syndrome
2804	W syndrome	102283, 139039, 611327	Malformation syndrome
2825	PARC syndrome	102285, 139039, 330206	Malformation syndrome
2888	Pierre Robin syndrome-faciodigital anomaly syndrome	139039	Malformation syndrome
3104	Robin sequence-oligodactyly syndrome	139039	Malformation syndrome
3201	Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome	102285, 139039, 330206	Malformation syndrome
3424	Velo-facial-skeletal syndrome	102285, 139039, 330206	Malformation syndrome
3429	Verloove Vanhorick-Brubakk syndrome	102285, 139039, 330206	Malformation syndrome
3448	Weaver-Williams syndrome	102283, 139039, 611327	Malformation syndrome
477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	102283, 139039, 183580, 611327	Malformation syndrome
1415	Hardikar syndrome	139039, 716342	Malformation syndrome
2015	Cleft palate-short stature-vertebral anomalies syndrome	102283, 139039, 611327	Malformation syndrome
1779	Dysmorphism-cleft palate-loose skin syndrome	139039	Malformation syndrome
3263	Syngnathia-cleft palate syndrome	139039	Malformation syndrome
77300	Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome	102285, 139039, 330206	Malformation syndrome
140963	Bilateral microtia-deafness-cleft palate syndrome	139039, 90642	Malformation syndrome
168572	Native American myopathy	139039, 466658, 97245	Malformation syndrome
324601	X-linked cleft palate and ankyloglossia	139039	Malformation syndrome
660021	Orofacial clefting-cardiac anomalies-facial dysmorphism syndrome	102283, 139039, 611327	Malformation syndrome
141214	Isolated congenital syngnathia	156237	Malformation syndrome
694956	Intellectual disability-lymphoid hypertrophy-macrocephaly syndrome	102283, 156237, 611327	Malformation syndrome
68335	Rare chromosomal anomaly	93890, 98053	Category
1052	Mosaic variegated aneuploidy syndrome	102283, 183422, 611327, 68335, 98638, 98642	Malformation syndrome
96321	Polyploidy syndrome	68335	Category
3305	Tetraploidy syndrome	96321	Malformation syndrome
3376	Triploidy syndrome	459787, 471383, 96321, 98642	Malformation syndrome
98127	Autosomal anomaly syndrome	68335	Category
363203	Ring chromosome syndrome	98127	Category
96172	Ring chromosome 3 syndrome	363203	Malformation syndrome
96173	Ring chromosome 9 syndrome	363203	Malformation syndrome
96175	Ring chromosome 11 syndrome	363203	Malformation syndrome
96177	Ring chromosome 15 syndrome	363203	Malformation syndrome
96178	Ring chromosome 16 syndrome	363203	Malformation syndrome
251043	Ring chromosome 5 syndrome	363203	Malformation syndrome
1442	Ring chromosome 18 syndrome	363203	Malformation syndrome
1446	Ring chromosome 22 syndrome	363203	Malformation syndrome
1437	Ring chromosome 1 syndrome	363203	Malformation syndrome
1438	Ring chromosome 10 syndrome	102283, 363203, 611327	Malformation syndrome
1439	Ring chromosome 12 syndrome	363203	Malformation syndrome
1444	Ring chromosome 20 syndrome	166469, 363203	Malformation syndrome
1447	Ring chromosome 4 syndrome	363203	Malformation syndrome
1448	Ring chromosome 6 syndrome	363203	Malformation syndrome
1450	Ring chromosome 8 syndrome	363203	Malformation syndrome
1445	Ring chromosome 21 syndrome	363203	Malformation syndrome
1440	Ring chromosome 14 syndrome	166469, 363203	Malformation syndrome
1443	Ring chromosome 19 syndrome	363203	Malformation syndrome
1449	Ring chromosome 7 syndrome	363203	Malformation syndrome
1441	Ring chromosome 17 syndrome	363203	Malformation syndrome
96171	Ring chromosome 2 syndrome	363203	Malformation syndrome
98130	Autosomal trisomy syndrome	98127	Category
98131	Total autosomal trisomy syndrome	98130	Category
1703	Mosaic trisomy 14 syndrome	98131	Malformation syndrome
1692	Mosaic trisomy 1 syndrome	98131	Malformation syndrome
1698	Mosaic trisomy 12 syndrome	98131	Malformation syndrome
1706	Mosaic trisomy 15 syndrome	98131	Malformation syndrome
1708	Mosaic trisomy 16 syndrome	98131	Malformation syndrome
1711	Mosaic trisomy 17 syndrome	98131	Malformation syndrome
1723	Mosaic trisomy 2 syndrome	98131	Malformation syndrome
1724	Mosaic trisomy 20 syndrome	98131	Malformation syndrome
1747	Mosaic trisomy 7 syndrome	98131	Malformation syndrome
96059	Mosaic trisomy 4 syndrome	98131	Malformation syndrome
96060	Mosaic trisomy 5 syndrome	98131	Malformation syndrome
96061	Mosaic trisomy 8 syndrome	98131	Malformation syndrome
96063	Mosaic trisomy 10 syndrome	98131	Malformation syndrome
96068	Mosaic trisomy 22 syndrome	98131	Malformation syndrome
99776	Mosaic trisomy 9 syndrome	98131	Malformation syndrome
100071	Mosaic trisomy 3 syndrome	98131	Malformation syndrome
98132	Partial autosomal duplication/triplication syndrome	98130	Category
96055	Tetrasomy 21 syndrome	98132	Malformation syndrome
262191	Partial duplication of chromosome 1 syndrome	98132	Category
262833	Partial duplication of the long arm of chromosome 1 syndrome	262191	Category
250994	1q21.1 microduplication syndrome	262833	Malformation syndrome
261344	Trisomy 1q syndrome	262833	Malformation syndrome
264431	Partial duplication of the short arm of chromosome 1 syndrome	262191	Category
96069	Distal duplication 1p36 syndrome	264431	Malformation syndrome
262196	Partial duplication of chromosome 2 syndrome	98132	Category
262698	Partial duplication of the short arm of chromosome 2 syndrome	262196	Category
699850	2p25.3 microduplication syndrome	262698, 611314	Malformation syndrome
96070	Distal duplication 2p syndrome	262698, 98642	Malformation syndrome
262842	Partial duplication of the long arm of chromosome 2 syndrome	262196	Category
96094	Distal duplication 2q syndrome	262842	Malformation syndrome
294026	Syndactyly-nystagmus syndrome due to 2q31.1 microduplication	262842	Malformation syndrome
313947	2q23.1 microduplication syndrome	102283, 262842, 611327	Malformation syndrome
262201	Partial duplication of chromosome 3 syndrome	98132	Category
262707	Partial duplication of the short arm of chromosome 3 syndrome	262201	Category
96071	Distal duplication 3p syndrome	262707	Malformation syndrome
262851	Partial duplication of the long arm of chromosome 3 syndrome	262201	Category
96095	3q26 microduplication syndrome	262851, 98642	Malformation syndrome
251038	3q29 microduplication syndrome	262851	Malformation syndrome
262206	Partial duplication of chromosome 4 syndrome	98132	Category
262716	Partial duplication of the short arm of chromosome 4 syndrome	262206	Category
1738	Trisomy 4p syndrome	262716	Malformation syndrome
262860	Partial duplication of the long arm of chromosome 4 syndrome	262206	Category
96096	Distal duplication 4q syndrome	262860	Malformation syndrome
262211	Partial duplication/triplication of chromosome 5 syndrome	98132	Category
262725	Partial duplication/triplication of the short arm of chromosome 5 syndrome	262211	Category
3309	Tetrasomy 5p syndrome	262725, 98642	Malformation syndrome
329802	5p13 microduplication syndrome	102283, 262725, 611327	Malformation syndrome
262869	Partial duplication of the long arm of chromosome 5 syndrome	262211	Category
96097	Distal duplication 5q syndrome	262869	Malformation syndrome
99027	Adult-onset autosomal dominant leukodystrophy	262869, 519341, 522506, 68356	Disease
228415	5q35 microduplication syndrome	262869	Malformation syndrome
262628	Partial duplication of chromosome 6 syndrome	98132	Category
262740	Partial duplication of the short arm of chromosome 6 syndrome	262628	Category
1745	Distal duplication 6p syndrome	262740	Malformation syndrome
262878	Partial duplication of the long arm of chromosome 6 syndrome	262628	Category
96098	Distal duplication 6q syndrome	262878	Malformation syndrome
262633	Partial duplication of chromosome 7 syndrome	98132	Category
262749	Partial duplication of the short arm of chromosome 7 syndrome	262633	Category
96074	Distal duplication 7p syndrome	262749	Malformation syndrome
314034	7p22.1 microduplication syndrome	102283, 262749, 611327	Malformation syndrome
262887	Partial duplication of the long arm of chromosome 7 syndrome	262633	Category
96121	7q11.23 microduplication syndrome	262887	Malformation syndrome
261102	Distal 7q11.23 microduplication syndrome	262887	Malformation syndrome
262638	Partial duplication of chromosome 8 syndrome	98132	Category
262758	Partial duplication of the short arm of chromosome 8 syndrome	262638	Category
251076	8p23.1 duplication syndrome	262758	Malformation syndrome
264450	Trisomy 8p syndrome	262758	Malformation syndrome
262896	Partial duplication of the long arm of chromosome 8 syndrome	262638	Category
1752	Trisomy 8q syndrome	262896	Malformation syndrome
96100	Distal duplication 8q syndrome	262896	Malformation syndrome
228399	8q12 microduplication syndrome	262896, 522520, 98683	Malformation syndrome
262643	Partial duplication/triplication of chromosome 9 syndrome	98132	Category
262767	Partial duplication/triplication of the short arm of chromosome 9 syndrome	262643	Category
236	Trisomy 9p syndrome	262767, 519286, 522568, 98642	Malformation syndrome
3310	Tetrasomy 9p syndrome	262767	Malformation syndrome
262905	Partial duplication of the long arm of chromosome 9 syndrome	262643	Category
96101	Distal duplication 9q syndrome	262905	Malformation syndrome
96112	Non-distal duplication 9q syndrome	262905	Malformation syndrome
262648	Partial duplication of chromosome 10 syndrome	98132	Category
262776	Partial duplication of the short arm of chromosome 10 syndrome	262648	Category
171929	Trisomy 10p syndrome	262776	Malformation syndrome
262914	Partial duplication of the long arm of chromosome 10 syndrome	262648	Category
1695	Non-distal duplication 10q syndrome	262914, 98642	Malformation syndrome
1307	Distal limb deficiencies-micrognathia syndrome	102283, 262914, 611327	Malformation syndrome
96102	Distal duplication 10q syndrome	262914, 98642	Malformation syndrome
276422	10q22.3q23.3 microduplication syndrome	262914	Malformation syndrome
262653	Partial duplication of chromosome 11 syndrome	98132	Category
262785	Partial duplication of the short arm of chromosome 11 syndrome	262653	Category
262923	Partial duplication of the long arm of chromosome 11 syndrome	262653	Category
96103	Distal duplication 11q syndrome	262923	Malformation syndrome
289522	Microtriplication 11q24.1 syndrome	102283, 262923, 611327	Malformation syndrome
262658	Partial duplication/triplication of the short arm of chromosome 12 syndrome	98132	Category
1699	Trisomy 12p syndrome	262658	Malformation syndrome
262672	Partial duplication of chromosome 16 syndrome	98132	Category
262794	Partial duplication of the short arm of chromosome 16 syndrome	262672	Category
96078	16p13.3 microduplication syndrome	262794	Malformation syndrome
261204	16p11.2p12.2 microduplication syndrome	262794	Malformation syndrome
261243	16p13.11 microduplication syndrome	262794	Malformation syndrome
370079	Proximal 16p11.2 microduplication syndrome	262794, 611314	Malformation syndrome
485405	16p12.1p12.3 triplication syndrome	102283, 262794, 611327	Malformation syndrome
262959	Partial duplication of the long arm of chromosome 16 syndrome	262672	Category
96106	Distal duplication 16q syndrome	262959	Malformation syndrome
262677	Partial duplication of chromosome 17 syndrome	98132	Category
262803	Partial duplication of the short arm of chromosome 17 syndrome	262677	Category
1713	17p11.2 microduplication syndrome	102283, 262803, 611327	Malformation syndrome
101081	Charcot-Marie-Tooth disease type 1A	262803, 65753	Disease
217385	17p13.3 microduplication syndrome	102283, 262803, 611327	Malformation syndrome
261290	Trisomy 17p syndrome	262803	Malformation syndrome
262968	Partial duplication of the long arm of chromosome 17 syndrome	262677	Category
3379	Distal duplication 17q syndrome	262968	Malformation syndrome
139474	17q11.2 microduplication syndrome	102283, 262968, 611327	Malformation syndrome
217340	17q21.31 microduplication syndrome	102283, 262968, 611327	Malformation syndrome
261272	17q12 microduplication syndrome	262968	Malformation syndrome
477817	PMP22-RAI1 contiguous gene duplication syndrome	102283, 140453, 262968, 611327	Malformation syndrome
262682	Partial duplication/triplication of chromosome 18 syndrome	98132	Category
262812	Partial duplication/triplication of the short arm of chromosome 18 syndrome	262682	Category
1715	Trisomy 18p syndrome	262812	Malformation syndrome
3307	Tetrasomy 18p syndrome	262812	Malformation syndrome
262977	Partial duplication of the long arm of chromosome 18 syndrome	262682	Category
1716	Distal duplication 18q syndrome	262977	Malformation syndrome
262687	Partial duplication of chromosome 19 syndrome	98132	Category
262986	Partial duplication of the long arm of chromosome 19 syndrome	262687	Category
1717	Distal duplication 19q syndrome	262986	Malformation syndrome
447985	Partial duplication of the short arm of chromosome 19 syndrome	262687	Category
447980	19p13.3 microduplication syndrome	102283, 447985, 611327	Malformation syndrome
262692	Partial duplication of chromosome 20 syndrome	98132	Category
261318	Trisomy 20p syndrome	262692	Malformation syndrome
262995	Partial duplication of the long arm of chromosome 20 syndrome	262692	Category
96107	Distal duplication 20q syndrome	262995	Malformation syndrome
363659	20q11.2 microduplication syndrome	102283, 262995, 611327	Malformation syndrome
262932	Partial duplication of the long arm of chromosome 13 syndrome	98132	Category
1702	Non-distal duplication 13q syndrome	262932	Malformation syndrome
96105	Distal duplication 13q syndrome	262932	Malformation syndrome
262941	Partial duplication of the long arm of chromosome 14 syndrome	98132	Category
261229	14q11.2 microduplication syndrome	262941	Malformation syndrome
488280	14q32 duplication syndrome	262941, 98274	Disease
262950	Partial duplication of the long arm of chromosome 15 syndrome	98132	Category
238446	15q11q13 microduplication syndrome	262950	Malformation syndrome
263004	Partial duplication of the long arm of chromosome 22 syndrome	98132	Category
1727	22q11.2 duplication syndrome	263004	Malformation syndrome
96109	Distal duplication 22q syndrome	263004	Malformation syndrome
261337	Distal 22q11.2 microduplication syndrome	263004	Malformation syndrome
98152	Autosomal uniparental disomy syndrome	98127	Category
98153	Maternal uniparental disomy syndrome	98152	Category
96179	Maternal uniparental disomy of chromosome 2 syndrome	98153	Malformation syndrome
96180	Maternal uniparental disomy of chromosome 4 syndrome	98153	Malformation syndrome
96181	Maternal uniparental disomy of chromosome 6 syndrome	98153	Malformation syndrome
96183	Maternal uniparental disomy of chromosome 9 syndrome	98153	Malformation syndrome
96186	Maternal uniparental disomy of chromosome 20 syndrome	98153	Malformation syndrome
96187	Maternal uniparental disomy of chromosome 21 syndrome	98153	Malformation syndrome
96188	Maternal uniparental disomy of chromosome 22 syndrome	98153	Malformation syndrome
97678	Maternal uniparental disomy of chromosome 13 syndrome	98153	Malformation syndrome
251009	Maternal uniparental disomy of chromosome 1 syndrome	98153	Malformation syndrome
98154	Paternal uniparental disomy syndrome	98152	Category
96190	Paternal uniparental disomy of chromosome 5 syndrome	98154	Malformation syndrome
96191	Paternal uniparental disomy of chromosome 6 syndrome	98154	Malformation syndrome
96192	Paternal uniparental disomy of chromosome 7 syndrome	98154	Malformation syndrome
96194	Paternal uniparental disomy of chromosome 20 syndrome	98154	Malformation syndrome
96195	Paternal uniparental disomy of chromosome 21 syndrome	98154	Malformation syndrome
96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	254519, 98154	Etiological subtype
98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	72, 98154	Etiological subtype
99324	Paternal uniparental disomy of chromosome 13 syndrome	98154	Malformation syndrome
251004	Paternal uniparental disomy of chromosome 1 syndrome	98154	Malformation syndrome
329813	Mosaic genome-wide paternal uniparental disomy syndrome	98152	Malformation syndrome
102020	Autosomal monosomy syndrome	98127	Category
98141	Total autosomal monosomy syndrome	102020	Category
96123	Monosomy 22 syndrome	98141	Malformation syndrome
98142	Partial autosomal deletion syndrome	102020	Category
261766	Partial deletion of chromosome 1 syndrome	98142	Category
261857	Partial deletion of the short arm of chromosome 1 syndrome	261766	Category
293948	1p21.3 microdeletion syndrome	180772, 261857, 611314	Malformation syndrome
401986	1p31p32 microdeletion syndrome	102283, 261857, 611327	Malformation syndrome
262001	Partial deletion of the long arm of chromosome 1 syndrome	261766	Category
36367	Distal deletion 1q syndrome	102283, 262001, 611327	Malformation syndrome
238769	1q44 microdeletion syndrome	262001	Malformation syndrome
250989	1q21.1 microdeletion syndrome	262001	Malformation syndrome
250999	1q41q42 microdeletion syndrome	262001	Malformation syndrome
261771	Partial deletion of chromosome 2 syndrome	98142	Category
261866	Partial deletion of the short arm of chromosome 2 syndrome	261771	Category
261349	2p15p16.1 microdeletion syndrome	261866	Malformation syndrome
363680	2p13.2 microdeletion syndrome	102283, 261866, 611327	Malformation syndrome
369886	Homozygous 2p21 microdeletion syndrome	261866	Clinical group
238517	Hypotonia-cystinuria type 1 syndrome	183592, 369886, 506213, 79166, 93603	Clinical group
163690	Hypotonia-cystinuria syndrome	238517	Disease
163693	2p21 microdeletion syndrome	238517	Disease
238523	Atypical hypotonia-cystinuria syndrome	238517	Disease
369881	2p21 microdeletion syndrome without cystinuria	369886	Malformation syndrome
262010	Partial deletion of the long arm of chromosome 2 syndrome	261771	Category
228402	2q23.1 microdeletion syndrome	102283, 166469, 262010, 611327	Malformation syndrome
251014	2q31.1 microdeletion syndrome	262010	Malformation syndrome
251019	2q32q33 deletion syndrome	102283, 262010, 611327	Malformation syndrome
261776	Partial deletion of chromosome 3 syndrome	98142	Category
261875	Partial deletion of the short arm of chromosome 3 syndrome	261776	Category
435638	3p25.3 microdeletion syndrome	261875, 611314	Malformation syndrome
262019	Partial deletion of the long arm of chromosome 3 syndrome	261776	Category
1621	3q13 microdeletion syndrome	262019	Malformation syndrome
65286	3q29 microdeletion syndrome	262019	Malformation syndrome
695611	3q26q28 deletion syndrome	102283, 262019, 611327	Malformation syndrome
261781	Partial deletion of chromosome 4 syndrome	98142	Category
261884	Partial deletion of the short arm of chromosome 4 syndrome	261781	Category
262029	Partial deletion of the long arm of chromosome 4 syndrome	261781	Category
96145	Distal deletion 4q syndrome	262029	Malformation syndrome
238750	4q21 microdeletion syndrome	262029	Malformation syndrome
502437	4q25 proximal deletion syndrome	102283, 262029, 611327	Malformation syndrome
261786	Partial deletion of chromosome 5 syndrome	98142	Category
261893	Partial deletion of the short arm of chromosome 5 syndrome	261786	Category
262038	Partial deletion of the long arm of chromosome 5 syndrome	261786	Category
1627	Deletion 5q35 syndrome	262038	Malformation syndrome
261584	5q22 microdeletion syndrome	102283, 104010, 262038, 611327	Disease
314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	262038, 438213	Etiological subtype
261791	Partial deletion of chromosome 6 syndrome	98142	Category
261902	Partial deletion of the short arm of chromosome 6 syndrome	261791	Category
251046	6p22 microdeletion syndrome	261902	Malformation syndrome
262047	Partial deletion of the long arm of chromosome 6 syndrome	261791	Category
251056	6q25.2q25.3 microdeletion syndrome	262047	Malformation syndrome
261796	Partial deletion of chromosome 7 syndrome	98142	Category
261911	Partial deletion of the short arm of chromosome 7 syndrome	261796	Category
96126	Distal deletion 7p syndrome	261911	Malformation syndrome
262056	Partial deletion of the long arm of chromosome 7 syndrome	261796	Category
1636	Distal monosomy 7q36 syndrome	262056	Malformation syndrome
251061	7q31 microdeletion syndrome	262056	Malformation syndrome
254351	Distal 7q11.23 microdeletion syndrome	262056	Malformation syndrome
261801	Partial deletion of chromosome 8 syndrome	98142	Category
261920	Partial deletion of the short arm of chromosome 8 syndrome	261801	Category
251066	8p11.2 deletion syndrome	261920	Malformation syndrome
251071	8p23.1 microdeletion syndrome	165707, 261920	Malformation syndrome
262065	Partial deletion of the long arm of chromosome 8 syndrome	261801	Category
178303	8q22.1 microdeletion syndrome	102285, 262065, 330206	Malformation syndrome
284160	8q21.11 microdeletion syndrome	102283, 262065, 611327	Malformation syndrome
261806	Partial deletion of chromosome 9 syndrome	98142	Category
261929	Partial deletion of the short arm of chromosome 9 syndrome	261806	Category
1642	Distal deletion 9p syndrome	261929, 325638, 98087	Malformation syndrome
261112	Monosomy 9p syndrome	261929	Malformation syndrome
324313	9p13 microdeletion syndrome	102283, 261929, 611327	Malformation syndrome
262074	Partial deletion of the long arm of chromosome 9 syndrome	261806	Category
77301	Monosomy 9q22.3 syndrome	262074, 522520, 98683	Malformation syndrome
96147	Kleefstra syndrome due to 9q34 microdeletion	166469, 261494, 262074	Etiological subtype
401923	9q31.1q31.3 microdeletion syndrome	102283, 262074, 611327	Malformation syndrome
495818	9q33.3q34.11 microdeletion syndrome	102283, 166469, 262074, 611327, 79370	Malformation syndrome
531151	9q21.13 microdeletion syndrome	262074, 611314	Malformation syndrome
261811	Partial deletion of chromosome 10 syndrome	98142	Category
261938	Partial deletion of the short arm of chromosome 10 syndrome	261811	Category
1580	Distal deletion 10p syndrome	261938	Clinical group
687695	10p13-p14 deletion syndrome	102283, 1580, 331220, 611327	Malformation syndrome
687424	ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion	1580, 694304	Etiological subtype
284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	261938, 466943	Clinical subtype
262083	Partial deletion of the long arm of chromosome 10 syndrome	261811	Category
79076	Juvenile polyposis of infancy	262083, 2929	Clinical subtype
1581	Non-distal deletion 10q syndrome	262083, 522520, 98683	Malformation syndrome
96148	Distal deletion 10q syndrome	262083	Malformation syndrome
276413	10q22.3q23.3 microdeletion syndrome	262083	Malformation syndrome
261816	Partial deletion of chromosome 11 syndrome	98142	Category
261947	Partial deletion of the short arm of chromosome 11 syndrome	261816	Category
52022	Potocki-Shaffer syndrome	102283, 261947, 611327	Malformation syndrome
262092	Partial deletion of the long arm of chromosome 11 syndrome	261816	Category
851	Paris-Trousseau thrombocytopenia	262092, 98455	Disease
444002	11q22.2q22.3 microdeletion syndrome	102283, 262092, 611327	Malformation syndrome
261826	Partial deletion of chromosome 16 syndrome	98142	Category
261956	Partial deletion of the short arm of chromosome 16 syndrome	261826	Category
88924	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	156162, 261956, 506213, 93587	Disease
98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	232288, 261956, 611314	Malformation syndrome
261197	Proximal 16p11.2 microdeletion syndrome	261956	Malformation syndrome
261211	16p11.2p12.2 microdeletion syndrome	261956	Malformation syndrome
261236	16p13.11 microdeletion syndrome	261956	Malformation syndrome
500055	Hao-Fountain syndrome due to 16p13.2 microdeletion	261956, 643549	Etiological subtype
262128	Partial deletion of the long arm of chromosome 16 syndrome	261826	Category
658540	16q22 deletion syndrome	102283, 262128, 611327	Malformation syndrome
261250	16q24.3 microdeletion syndrome	262128	Malformation syndrome
352629	16q24.1 microdeletion syndrome	262128, 264683, 264992	Disease
261831	Partial deletion of chromosome 17 syndrome	98142	Category
261965	Partial deletion of the short arm of chromosome 17 syndrome	261831	Category
640	Hereditary neuropathy with liability to pressure palsies	140453, 261965	Malformation syndrome
261257	Distal 17p13.3 microdeletion syndrome	261965	Malformation syndrome
319171	Distal 17p13.1 microdeletion syndrome	102283, 261965, 611327	Malformation syndrome
262137	Partial deletion of the long arm of chromosome 17 syndrome	261831	Category
529962	17q24.2 microdeletion syndrome	102283, 262137, 611327	Malformation syndrome
1597	Distal deletion 17q syndrome	262137	Malformation syndrome
261265	17q12 microdeletion syndrome	262137	Malformation syndrome
261279	17q23.1q23.2 microdeletion syndrome	262137	Malformation syndrome
261836	Partial deletion of chromosome 18 syndrome	98142	Category
261974	Partial deletion of the short arm of chromosome 18 syndrome	261836	Category
1598	Monosomy 18p syndrome	261974, 98642	Disease
262146	Partial deletion of the long arm of chromosome 18 syndrome	261836	Category
261841	Partial deletion of chromosome 19 syndrome	98142	Category
261983	Partial deletion of the short arm of chromosome 19 syndrome	261841	Category
96129	Distal deletion 19p syndrome	261983	Malformation syndrome
254346	19p13.12 microdeletion syndrome	261983	Malformation syndrome
357001	19p13.13 microdeletion syndrome	102283, 261983, 611327	Malformation syndrome
262155	Partial deletion of the long arm of chromosome 19 syndrome	261841	Category
217346	19q13.11 microdeletion syndrome	102283, 262155, 611327	Malformation syndrome
261846	Partial deletion of chromosome 20 syndrome	98142	Category
261992	Partial deletion of the short arm of chromosome 20 syndrome	261846	Category
261295	20p12.3 microdeletion syndrome	261992	Malformation syndrome
313781	20p13 microdeletion syndrome	102283, 261992, 611327	Malformation syndrome
262164	Partial deletion of the long arm of chromosome 20 syndrome	261846	Category
261304	Paternal 20q13.2q13.3 microdeletion syndrome	262164	Malformation syndrome
261311	20q13.33 microdeletion syndrome	262164	Malformation syndrome
444051	20q11.2 microdeletion syndrome	102283, 262164, 611327	Malformation syndrome
262101	Partial deletion of the long arm of chromosome 13 syndrome	98142	Category
96168	Monosomy 13q34 syndrome	262101, 98642	Malformation syndrome
412035	13q12.3 microdeletion syndrome	102283, 262101, 611327, 79359	Malformation syndrome
262110	Partial deletion of the long arm of chromosome 14 syndrome	98142	Category
96150	Distal deletion 14q syndrome	262110	Malformation syndrome
254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	254519, 262110	Etiological subtype
261120	14q11.2 microdeletion syndrome	262110	Malformation syndrome
261144	FOXG1 syndrome due to 14q12 microdeletion	262110, 561854	Clinical subtype
264200	14q22q23 microdeletion syndrome	102285, 262110, 330206	Malformation syndrome
401935	14q24.1q24.3 microdeletion syndrome	102283, 262110, 611327	Malformation syndrome
262119	Partial deletion of the long arm of chromosome 15 syndrome	98142	Category
1596	Distal deletion 15q syndrome	262119	Malformation syndrome
94064	Deafness-infertility syndrome	262119, 399813, 90642	Malformation syndrome
94065	15q24 microdeletion syndrome	262119, 500163	Etiological subtype
98794	Angelman syndrome due to maternal 15q11q13 deletion	262119, 72	Etiological subtype
199318	15q13.3 microdeletion syndrome	102283, 166469, 262119, 611327, 98033	Malformation syndrome
261183	15q11.2 microdeletion syndrome	262119	Malformation syndrome
261190	Cleft palate-congenital heart defect-intellectual disability syndrome due to 15q14 microdeletion	262119, 652519	Clinical subtype
262173	Partial deletion of the long arm of chromosome 21 syndrome	98142	Category
574	21q deletion syndrome	262173, 98642	Malformation syndrome
268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	262173, 464306	Etiological subtype
262182	Partial deletion of the long arm of chromosome 22 syndrome	98142	Category
662169	Phelan-McDermid syndrome due to 22q13.3 deletion	262182, 48652	Etiological subtype
261330	Distal 22q11.2 microdeletion syndrome	262182	Malformation syndrome
282124	Partial deletion of chromosome 12 syndrome	98142	Category
261821	Partial deletion of the long arm of chromosome 12 syndrome	282124	Category
96149	Distal deletion 12q syndrome	261821	Malformation syndrome
96160	Non-distal deletion 12q syndrome	261821	Malformation syndrome
289513	12q15q21 microdeletion syndrome	261821, 697760	Etiological subtype
316244	Partial deletion of the short arm of chromosome 12 syndrome	282124	Category
280325	Distal deletion 12p syndrome	316244	Malformation syndrome
313884	12p12.1 microdeletion syndrome	316244, 530983	Clinical subtype
263708	Complex chromosomal rearrangement syndrome	98127	Category
3306	Inverted duplicated chromosome 15 syndrome	166469, 180772, 263708	Malformation syndrome
96092	8p inverted duplication/deletion syndrome	263708	Malformation syndrome
96167	Recombinant 8 syndrome	263708	Malformation syndrome
98155	Sex-chromosome anomaly syndrome	68335	Category
98156	Sex-chromosome number anomaly syndrome	98155	Category
263714	X chromosome number anomaly syndrome	98156	Category
263717	X chromosome number anomaly with female phenotype syndrome	263714	Category
263723	Polysomy of X chromosome syndrome	263717	Category
11	Pentasomy X syndrome	263723	Malformation syndrome
9	Tetrasomy X syndrome	263723, 399853, 400022, 485382, 95710	Malformation syndrome
3375	Trisomy X syndrome	263723, 399853, 400022, 485382, 95710	Malformation syndrome
263720	X chromosome number anomaly with male phenotype syndrome	263714	Category
96263	48,XXXY syndrome	102283, 165707, 263720, 325546, 611327, 98313	Malformation syndrome
96264	49,XXXXY syndrome	102283, 165707, 263720, 325546, 611327, 98313	Malformation syndrome
263746	Y chromosome number anomaly syndrome	98156	Category
8	47,XYY syndrome	263746	Malformation syndrome
1772	45,X/46,XY mixed gonadal dysgenesis	263746, 325546, 98074, 98313	Malformation syndrome
99329	48,XYYY syndrome	102283, 165707, 263746, 611327, 98313	Malformation syndrome
99330	49,XYYYY syndrome	102285, 263746, 330206	Malformation syndrome
263749	X and Y chromosomal anomaly syndrome	98156	Category
10	48,XXYY syndrome	102283, 165707, 263749, 325546, 611327	Malformation syndrome
199310	Tetragametic chimerism syndrome	263749, 325546, 325638	Malformation syndrome
261534	49,XXXYY syndrome	263749	Malformation syndrome
98157	Sex-chromosome structural anomaly syndrome	98155	Category
98158	Chromosome Y structural anomaly syndrome	98157	Category
1646	Chromosome Y microdeletion syndrome	399775, 98158	Malformation syndrome
96325	Isochromosome Y syndrome	98158	Category
98797	Isochromosomy Yp syndrome	96325	Malformation syndrome
98798	Isochromosomy Yq syndrome	96325	Malformation syndrome
261529	Ring chromosome Y syndrome	98158	Malformation syndrome
98159	Chromosome X structural anomaly syndrome	98157	Category
96201	X small rings syndrome	399853, 400022, 485382, 95710, 98159	Malformation syndrome
263726	Partial deletion of chromosome X syndrome	98159	Category
263731	Partial deletion of the short arm of the chromosome X syndrome	263726	Category
1643	Xp22.3 microdeletion syndrome	263731	Malformation syndrome
85332	X-linked intellectual disability-retinitis pigmentosa syndrome	263731, 611314, 716405	Disease
261476	Xp21 deletion syndrome	263731, 308993, 595337	Disease
261501	Atypical Norrie disease due to Xp11.3 microdeletion	263731	Malformation syndrome
263756	Partial deletion of the long arm of chromosome X syndrome	263726	Category
86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	102283, 182043, 263756, 567554, 611327	Disease
456328	X-linked myotubular myopathy-abnormal genitalia syndrome	207110, 263756, 595, 611314, 98087	Disease
263768	Partial duplication of chromosome X syndrome	98159	Category
263775	Partial duplication of the short arm of chromosome X syndrome	263768	Category
217377	Microduplication Xp11.22p11.23 syndrome	102283, 166469, 263775, 611327	Malformation syndrome
284180	Xp22.13p22.2 duplication syndrome	102283, 263775, 611327	Malformation syndrome
263783	Partial duplication of the long arm of chromosome X syndrome	263768	Category
521258	Xq25 microduplication syndrome	102283, 263783, 611327	Malformation syndrome
1762	Proximal Xq28 duplication syndrome	102283, 263783, 611327	Malformation syndrome
261483	Xq27.3q28 duplication syndrome	263783	Malformation syndrome
293939	Distal Xq28 microduplication syndrome	263783, 611314	Malformation syndrome
314389	Xq12-q13.3 duplication syndrome	180772, 263783	Malformation syndrome
263793	Uniparental disomy of chromosome X syndrome	98159	Category
261519	Maternal uniparental disomy of chromosome X syndrome	263793	Malformation syndrome
261524	Paternal uniparental disomy of chromosome X syndrome	263793	Malformation syndrome
68341	Multiple congenital anomalies/dysmorphic syndrome	93890	Category
459787	Lethal multiple congenital anomalies/dysmorphic syndrome	68341	Category
633099	PAICS deficiency	459787, 471383, 79191	Malformation syndrome
1780	Thakker-Donnai syndrome	459787, 471383	Malformation syndrome
1895	Edinburgh malformation syndrome	459787, 471383	Malformation syndrome
1681	Diprosopus	459787	Morphological anomaly
210144	Lethal polymalformative syndrome, Boissel type	459787, 471383	Malformation syndrome
33108	Lethal multiple pterygium syndrome	294060, 459787, 471383	Malformation syndrome
2077	German syndrome	109007, 2416, 459787, 471383	Malformation syndrome
102283	Multiple congenital anomalies/dysmorphic syndrome-intellectual disability	102369, 68341	Category
464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	100981, 102283, 166472, 611327	Disease
496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	102283, 166472, 182070, 183500, 441434, 611327	Malformation syndrome
72	Angelman syndrome	102283, 166469, 611327, 641343, 98033	Malformation syndrome
411515	Angelman syndrome due to imprinting defect in 15q11-q13	72	Etiological subtype
411511	Angelman syndrome due to a point mutation	72	Etiological subtype
280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	102283, 181441, 477771, 611327	Disease
88618	S-adenosylhomocysteine hydrolase deficiency	102283, 611327, 79173	Disease
85285	X-linked intellectual disability, Schimke type	102283, 611327	Malformation syndrome
85288	X-linked intellectual disability, Stocco Dos Santos type	102283, 611327	Malformation syndrome
85320	X-linked intellectual disability-macrocephaly-macroorchidism syndrome	102283, 611327	Malformation syndrome
85323	X-linked intellectual disability, Seemanova type	102283, 611327	Disease
85324	X-linked intellectual disability, Shrimpton type	102283, 611327	Malformation syndrome
85297	X-linked spinocerebellar ataxia type 3	102283, 247765, 611327	Malformation syndrome
85327	X-linked intellectual disability-acromegaly-hyperactivity syndrome	102283, 611327	Disease
163956	X-linked intellectual disability, Nascimento type	102283, 611327	Disease
163971	X-linked intellectual disability, Cilliers type	102283, 181441, 611327	Disease
163976	X-linked intellectual disability, Van Esch type	102283, 181441, 611327	Malformation syndrome
163979	X-linked intellectual disability-craniofacioskeletal syndrome	102283, 611327	Disease
363528	Intellectual disability-strabismus syndrome	102283, 522520, 611327, 98683	Disease
369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	102283, 370106, 611327, 90642	Malformation syndrome
391372	FOXP1 Syndrome	102283, 611327	Malformation syndrome
435628	Keppen-Lubinsky syndrome	102283, 611327, 98305, 98746	Malformation syndrome
397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	102283, 611327	Disease
404448	Helsmoortel-Van der Aa syndrome	102283, 611327	Malformation syndrome
404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	102283, 611327	Malformation syndrome
404473	Intellectual disability-eye abnormalities-microcephaly-peripheral spasticity syndrome	102283, 611327, 716446	Malformation syndrome
411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	102283, 166472, 519343, 522508, 611327	Malformation syndrome
420561	Temple-Baraitser syndrome	102283, 611327, 79370	Disease
435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	102283, 611327	Malformation syndrome
436141	HIDEA syndrome	102283, 522520, 611327, 98683	Malformation syndrome
438213	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	102283, 611327	Disease
438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	438213	Etiological subtype
439822	PDE4D haploinsufficiency syndrome	102283, 611327	Malformation syndrome
1246	Brachydactyly-nystagmus-cerebellar ataxia syndrome	102283, 522520, 611327, 98683	Malformation syndrome
52503	X-linked creatine transporter deficiency	102283, 611327, 68385, 79172	Disease
73246	Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome	102283, 522520, 611327, 98683	Malformation syndrome
83617	Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome	102283, 183494, 229720, 611327, 79391	Malformation syndrome
85273	X-linked intellectual disability, Abidi type	102283, 611327	Malformation syndrome
85274	Syndromic X-linked intellectual disability 7	102283, 611327	Malformation syndrome
85276	X-linked intellectual disability, Armfield type	102283, 522548, 611327, 98641	Malformation syndrome
85278	Christianson syndrome	102283, 166478, 247765, 522520, 611327, 98683	Malformation syndrome
85279	KDM5C-related syndromic X-linked intellectual disability	102283, 166472, 611327	Malformation syndrome
85280	X-linked intellectual disability-cubitus valgus-dysmorphism syndrome	102283, 611327	Malformation syndrome
85284	BRESEK syndrome	102283, 611327	Malformation syndrome
85286	X-linked intellectual disability, Shashi type	102283, 611327	Malformation syndrome
85287	X-linked intellectual disability, Siderius type	102283, 611327	Malformation syndrome
85293	X-linked intellectual disability, Cabezas type	102283, 611327	Malformation syndrome
85317	X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome	102283, 611327	Malformation syndrome
85319	X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome	102283, 611327	Malformation syndrome
85321	Deafness-intellectual disability syndrome, Martin-Probst type	102283, 522548, 611327, 90642, 98641	Malformation syndrome
85322	X-linked intellectual disability, Pai type	102283, 611327	Malformation syndrome
85325	X-linked intellectual disability, Stevenson type	102283, 611327	Malformation syndrome
85326	X-linked intellectual disability, Stoll type	102283, 611327	Malformation syndrome
85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome	102283, 611327	Malformation syndrome
85335	Fried syndrome	102283, 611327	Malformation syndrome
94066	Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia	102283, 611327	Malformation syndrome
217017	Zechi-Ceide syndrome	102283, 611327	Malformation syndrome
221120	Pseudoaminopterin syndrome	102283, 611327	Malformation syndrome
228426	Syndromic multisystem autoimmune disease due to Itch deficiency	101944, 102283, 156610, 169355, 182228, 522043, 611327	Disease
254519	Kagami-Ogata syndrome	102283, 611327, 641343	Malformation syndrome
254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	254519	Etiological subtype
261494	Kleefstra syndrome	102283, 611327	Malformation syndrome
261652	Kleefstra syndrome due to a point mutation	261494	Etiological subtype
314575	Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome	102283, 611327	Malformation syndrome
314679	Cerebrofacioarticular syndrome	102283, 611327	Malformation syndrome
319182	Wiedemann-Steiner syndrome	102283, 611327	Malformation syndrome
324416	Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome	102283, 611327	Malformation syndrome
324540	Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome	102283, 611327	Malformation syndrome
329224	Schuurs-Hoeijmakers syndrome	102283, 611327	Malformation syndrome
352490	Autism spectrum disorder due to AUTS2 deficiency	102283, 180772, 611327	Disease
352577	Bainbridge-Ropers syndrome	102283, 611327	Disease
357175	Short ulna-dysmorphism-hypotonia-intellectual disability syndrome	102283, 611327	Malformation syndrome
363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	102283, 611327	Malformation syndrome
363611	CTCF-related neurodevelopmental disorder	102283, 611327	Disease
363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	102283, 611327	Disease
364028	X-linked intellectual disability due to GRIA3 mutations	102283, 611327	Disease
370010	Intellectual disability-facial dysmorphism-hand anomalies syndrome	102283, 611327	Malformation syndrome
370927	SSR4-CDG	102283, 309347, 371071, 611327	Disease
371364	Hypotonia-speech impairment-severe cognitive delay syndrome	102283, 182070, 183500, 611327, 98738	Disease
700333	Hypotonia-speech impairment-severe cognitive delay syndrome due to UNC80 deficiency	371364	Clinical subtype
700336	Hypotonia-speech impairment-severe cognitive delay syndrome due to NALCN deficiency	371364	Clinical subtype
391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	102283, 611327	Malformation syndrome
397612	Macrocephaly-developmental delay syndrome	102283, 611327	Malformation syndrome
48652	Phelan-McDermid syndrome	102283, 568047, 611327	Malformation syndrome
662172	Phelan-McDermid syndrome due to SHANK3 mutation	48652	Etiological subtype
50810	Microlissencephaly-micromelia syndrome	102283, 166478, 611327	Malformation syndrome
50815	Branchiogenic deafness syndrome	102283, 522520, 611327, 90642, 98683	Malformation syndrome
436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	102283, 611327, 716405	Disease
99812	LIG4 syndrome	102283, 183422, 480549, 611327	Disease
289553	Dysmorphism-conductive hearing loss-heart defect syndrome	102283, 611327, 90642	Malformation syndrome
83472	CAMOS syndrome	102283, 441434, 611327, 98095	Malformation syndrome
79156	Seizures-intellectual disability due to hydroxylysinuria syndrome	102283, 289832, 611327, 68385	Disease
2058	Fryns-Smeets-Thiry syndrome	102283, 611327	Malformation syndrome
3078	Severe X-linked intellectual disability, Gustavson type	102283, 441434, 611327	Malformation syndrome
1514	Craniodigital-intellectual disability syndrome	102283, 611327	Malformation syndrome
1548	Cryptorchidism-arachnodactyly-intellectual disability syndrome	102283, 522520, 611327, 98683	Malformation syndrome
1825	Epiphyseal dysplasia-hearing loss-dysmorphism syndrome	102283, 611327	Malformation syndrome
2824	Paraplegia-intellectual disability-hyperkeratosis syndrome	102283, 611327	Malformation syndrome
2083	Prominent glabella-microcephaly-hypogenitalism syndrome	102283, 611327	Malformation syndrome
2107	Hall-Riggs syndrome	102283, 611327	Malformation syndrome
2115	Harrod syndrome	102283, 522548, 611327, 98641	Malformation syndrome
2136	Hennekam syndrome	102283, 331217, 568044, 611327	Malformation syndrome
2139	Hernández-Aguirre Negrete syndrome	102283, 611327	Malformation syndrome
2166	Holoprosencephaly-postaxial polydactyly syndrome	102283, 611327	Malformation syndrome
2172	Microcephaly-glomerulonephritis-marfanoid habitus syndrome	102283, 611327	Malformation syndrome
1051	Ramos-Arroyo syndrome	102283, 611327, 716405, 90642	Malformation syndrome
2234	Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome	102283, 181441, 611327	Malformation syndrome
2261	Hypospadias-intellectual disability, Goldblatt type syndrome	102283, 165707, 611327	Malformation syndrome
2282	Dysmorphism-short stature-deafness-difference of sex development syndrome	102283, 325638, 611327, 98087	Malformation syndrome
2323	Sanjad-Sakati syndrome	102283, 181402, 611327	Malformation syndrome
2429	Macrocephaly-spastic paraplegia-dysmorphism syndrome	102283, 320346, 611327	Malformation syndrome
2463	Marfanoid habitus-autosomal recessive intellectual disability syndrome	102283, 611327	Malformation syndrome
2471	McDonough syndrome	102283, 522520, 611327, 98683	Malformation syndrome
2489	Upper limb defect-eye and ear abnormalities syndrome	102283, 522548, 611327, 98641	Malformation syndrome
2533	Microcephaly-deafness-intellectual disability syndrome	102283, 611327, 90642	Malformation syndrome
2608	N syndrome	102283, 183422, 611327, 90642	Malformation syndrome
2617	Microcephalic primordial dwarfism, Montreal type	102283, 611327	Malformation syndrome
2743	Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome	102283, 519347, 522522, 611327	Malformation syndrome
2865	Short stature-webbed neck-heart disease syndrome	102283, 611327	Malformation syndrome
2871	Pfeiffer-Palm-Teller syndrome	102283, 611327	Malformation syndrome
2921	Preaxial polydactyly-colobomata-intellectual disability syndrome	102283, 611327	Malformation syndrome
2988	Pterygium colli-intellectual disability-digital anomalies syndrome	102283, 611327	Malformation syndrome
3038	Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome	102283, 522520, 611327, 98683	Malformation syndrome
3044	Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome	102283, 181371, 181441, 183625, 611327	Malformation syndrome
3079	Intellectual disability, Buenos-Aires type	102283, 611327	Malformation syndrome
3080	Intellectual disability, Wolff type	102283, 611327	Malformation syndrome
3121	Ruvalcaba syndrome	102283, 611327	Malformation syndrome
3132	Say-Barber-Miller syndrome	101977, 102283, 611327	Malformation syndrome
3199	Stimmler syndrome	102283, 611327	Malformation syndrome
3219	Fountain syndrome	102283, 611327, 90642	Malformation syndrome
3224	Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome	102283, 165707, 611327, 90642	Malformation syndrome
3242	Renpenning syndrome	102283, 611327	Malformation syndrome
93945	X-linked intellectual disability, Porteous type	3242	Clinical subtype
93946	Hamel cerebro-palato-cardiac syndrome	3242	Clinical subtype
93947	X-linked intellectual disability, Golabi-Ito-Hall type	3242	Clinical subtype
93950	X-linked intellectual disability, Sutherland-Haan type	3242	Clinical subtype
3293	Telecanthus-hypertelorism-strabismus-pes cavus syndrome	102283, 522520, 611327, 98683	Malformation syndrome
3304	Fallot complex-intellectual disability-growth delay syndrome	102283, 611327	Malformation syndrome
3409	Urban-Rogers-Meyer syndrome	102283, 611327	Malformation syndrome
1277	Brachydactyly-mesomelia-intellectual disability-heart defects syndrome	102283, 611327	Malformation syndrome
1778	Facial dysmorphism-shawl scrotum-joint laxity syndrome	102283, 611327	Malformation syndrome
3074	Intellectual disability-short stature-hypertelorism syndrome	102283, 611327	Malformation syndrome
3051	Nicolaides-Baraitser syndrome	102283, 611327	Malformation syndrome
1272	Aymé-Gripp syndrome	102283, 522548, 611327, 98641	Malformation syndrome
1129	Arachnodactyly-abnormal ossification-intellectual disability syndrome	102283, 522520, 611327, 98683	Malformation syndrome
1383	Cataract-deafness-hypogonadism syndrome	102283, 522548, 611327, 90642, 98641	Malformation syndrome
1123	Caudal appendage-deafness syndrome	102283, 611327, 90642	Malformation syndrome
3082	Intellectual disability-polydactyly-uncombable hair syndrome	102283, 611327	Malformation syndrome
3055	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome	102283, 281244, 522520, 611327, 98683	Malformation syndrome
505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	102283, 166472, 611327	Malformation syndrome
544503	RNF13-related severe early-onset epileptic encephalopathy	102283, 166472, 611327, 90642	Disease
529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	102283, 611327	Malformation syndrome
506358	Gabriele-de Vries syndrome	102283, 611327	Malformation syndrome
562528	Congenital limbs-face contractures-hypotonia-developmental delay syndrome	102283, 611327, 97120, 98738	Malformation syndrome
500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	102283, 166472, 611327	Disease
500163	Witteveen-Kolk syndrome	102283, 611327	Malformation syndrome
500166	SIN3-related intellectual disability syndrome due to a point mutation	500163	Etiological subtype
457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	102283, 611327	Malformation syndrome
457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	102283, 611327	Malformation syndrome
1239	Behr syndrome	102283, 207025, 522548, 611327, 98641	Malformation syndrome
1236	Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome	102283, 183518, 611327	Malformation syndrome
2896	Pitt-Hopkins syndrome	102283, 166472, 611327	Malformation syndrome
502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	102283, 611327	Malformation syndrome
476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	102283, 611327	Malformation syndrome
480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	102283, 611327	Malformation syndrome
464306	DYRK1A-related intellectual disability syndrome	102283, 611327	Malformation syndrome
464311	Intellectual disability syndrome due to a DYRK1A point mutation	464306	Etiological subtype
464738	Basel-Vanagaite-Smirin-Yosef syndrome	102283, 522548, 611327, 98641	Malformation syndrome
2479	Megalocornea-intellectual disability syndrome	102283, 519288, 522558, 611327	Malformation syndrome
847	X-linked alpha-thalassemia-intellectual disability syndrome	102283, 232288, 325638, 611327, 98087	Malformation syndrome
2377	Laurence-Moon syndrome	102283, 156183, 181387, 611327, 716342	Malformation syndrome
776	Lujan-Fryns syndrome	102283, 611327	Malformation syndrome
1948	Epilepsy-microcephaly-skeletal dysplasia syndrome	102283, 611327	Malformation syndrome
1951	Epilepsy-telangiectasia syndrome	102283, 166472, 611327	Disease
990	Agnathia-holoprosencephaly-situs inversus syndrome	102283, 611327	Malformation syndrome
1110	Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome	102283, 611327	Malformation syndrome
1193	Atkin-Flaitz syndrome	102283, 611327	Malformation syndrome
1261	Bonnemann-Meinecke-Reich syndrome	102283, 611327	Malformation syndrome
1299	Branchioskeletogenital syndrome	102283, 165707, 611327	Malformation syndrome
1355	Congenital heart defect-round face-developmental delay syndrome	102283, 611327	Malformation syndrome
1387	Cataract-intellectual disability-hypogonadism syndrome	102283, 181387, 522548, 611327, 98641	Malformation syndrome
1389	Cortical blindness-intellectual disability-polydactyly syndrome	102283, 519343, 522508, 611327	Malformation syndrome
1184	Ataxia-photosensitivity-short stature syndrome	102283, 183518, 611327	Malformation syndrome
466943	WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome	102283, 611327	Malformation syndrome
466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	466943	Clinical subtype
468678	White-Sutton syndrome	102283, 611327	Disease
466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	102283, 611327	Malformation syndrome
2233	Hypogonadism-mitral valve prolapse-intellectual disability syndrome	102283, 181441, 611327	Disease
642763	Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation	102283, 611327	Malformation syndrome
521426	PLAA-associated neurodevelopmental disorder	102283, 441434, 611327	Malformation syndrome
488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	102283, 183466, 611327, 79375	Malformation syndrome
488632	TBCK-related encephalopathy-severe hypotonia-craniofacial dysmorphism syndrome	102283, 611327	Malformation syndrome
488642	TELO2-related intellectual disability-neurodevelopmental disorder	102283, 519343, 522508, 611327	Malformation syndrome
456312	Infantile multisystem neurologic-endocrine-pancreatic disease	101937, 102283, 140459, 165661, 177107, 611327, 90642	Disease
513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	102283, 611327	Disease
494344	RERE-related neurodevelopmental syndrome	102283, 611327	Malformation syndrome
487796	Takenouchi-Kosaki syndrome	102283, 477794, 568047, 611327	Malformation syndrome
487825	Pierpont syndrome	102283, 611327	Malformation syndrome
3010	Qazi-Markouizos syndrome	102283, 522520, 611327, 97245, 98683	Disease
647	Nijmegen breakage syndrome	102283, 102285, 169346, 183422, 330206, 611327	Malformation syndrome
1488	Cooper-Jabs syndrome	102283, 611327	Malformation syndrome
599082	CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome	102283, 611327	Malformation syndrome
1130	Arachnodactyly-intellectual disability-dysmorphism syndrome	102283, 611327	Malformation syndrome
1229	Pseudo-TORCH syndrome type 1	102283, 611327	Malformation syndrome
1399	Richards-Rundle syndrome	102283, 183518, 611327, 90642	Malformation syndrome
603684	KLHL7-related Bohring-Opitz-like and Crisponi/Cold-induced sweating-like overlap syndrome	102283, 401993, 603699, 611327, 716405	Malformation syndrome
1947	Northern epilepsy	102283, 166472, 228354, 611327	Clinical subtype
3085	Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome	102283, 156165, 522548, 611327, 90642, 98641	Malformation syndrome
2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	102283, 611327, 716342	Malformation syndrome
1014	Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome	102283, 481771, 611327, 79364	Disease
352587	Focal epilepsy-intellectual disability-cerebro-cerebellar malformation	102283, 166472, 166478, 611327	Disease
2662	Keipert syndrome	102283, 102285, 330206, 611327	Malformation syndrome
2031	Hepatic fibrosis-renal cysts-intellectual disability syndrome	101939, 102283, 156604, 611327, 93587	Malformation syndrome
2101	Grubben-de Cock-Borghgraef syndrome	102283, 519296, 611327	Malformation syndrome
73223	Global developmental delay-osteopenia-ectodermal defect syndrome	102283, 611327	Malformation syndrome
2928	Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome	102283, 611327	Malformation syndrome
3063	X-linked intellectual disability, Snyder type	102283, 611327	Disease
530983	Lamb-Shaffer syndrome	102283, 611327	Disease
313892	Developmental and speech delay due to SOX5 deficiency	530983	Clinical subtype
544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	102283, 289869, 611327, 68385	Disease
2180	Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome	102283, 611327	Malformation syndrome
2306	Isotretinoin-like syndrome	102283, 611327	Malformation syndrome
603689	KLHL7-related Bohring-Opitz-like syndrome	102283, 603699, 611327	Malformation syndrome
2958	X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome	102283, 611327	Malformation syndrome
600668	CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome	102283, 611327	Disease
3052	X-linked intellectual disability-seizures-psoriasis syndrome	102283, 522520, 611327, 98683	Disease
457205	Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome	102283, 182070, 183500, 441434, 611327, 91024	Disease
457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	102283, 306712, 307061, 611327	Disease
2863	Short stature-wormian bones-dextrocardia syndrome	102283, 611327	Malformation syndrome
684216	Intellectual disability-facial dysmorphism-joint hypermobility-hearing loss syndrome	102283, 166472, 611327, 90642	Malformation syndrome
684226	Intellectual disability-hypotonia-facial dysmorphism-macrocephaly syndrome	102283, 611327	Malformation syndrome
686482	BPTF-related intellectual disability-facial dysmorphism-skeletal anomalies syndrome	102283, 611327	Malformation syndrome
686495	MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome	101956, 102283, 183643, 611327	Disease
685017	Combined immunodeficiency due to TBX1 deficiency	102283, 331220, 611327	Disease
689422	Okur-Chung neurodevelopmental syndrome	102283, 611327	Malformation syndrome
689397	Poirier-Bienvenu neurodevelopmental syndrome	102283, 166472, 611327	Malformation syndrome
689408	Shashi-Pena syndrome	102283, 611327	Malformation syndrome
692193	CHAMP1-related intellectual disability-facial dysmorphism-behavioral abnormalities syndrome	102283, 611327	Malformation syndrome
694304	ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome	102283, 611327	Disease
694308	ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation	694304	Etiological subtype
697760	Intellectual disability-nasal speech-craniofacial dysmorphism syndrome	102283, 611327	Malformation syndrome
697764	Intellectual disability-nasal speech-craniofacial dysmorphism syndrome due to CNOT2 mutation	697760	Etiological subtype
697067	Global developmental delay-intellectual disability-microcephaly-short stature-brain iron accumulation syndrome	102283, 611327	Malformation syndrome
698085	Global developmental delay-intellectual disability-facial dysmorphism-pseudo-Pelger-Huët anomaly syndrome	102283, 611327	Malformation syndrome
698090	Ophthalmological abnormalities-facial dysmorphism-intellectual disability syndrome	102283, 611327	Malformation syndrome
699835	Cataract-combined malonic and methylmalonic aciduria-intellectual disability syndrome	102283, 611327	Malformation syndrome
700325	NKAP-related intellectual disability-facial dysmorphism-marfanoid habitus-scoliosis syndrome	102283, 611327	Malformation syndrome
619233	Hereditary persistence of fetal hemoglobin-intellectual disability syndrome	102283, 611327, 97992	Disease
659975	Sensorineural hearing loss-spastic quadriplegia-intellectual disability syndrome	102283, 611327, 90642	Malformation syndrome
662175	Macrocephaly-congenital heart disease-facial dysmorphism-intellectual disability syndrome	102283, 611327	Malformation syndrome
675775	Severe congenital myelofibrosis-pancytopenia-intellectual disability-neurologic and ophthalmic abnormalities syndrome	102283, 225707, 611327, 98274	Disease
675782	Progressive hypotonia-intellectual disability-facial dysmorphism syndrome due to FYVE-defective RBSN	102283, 309340, 611327	Disease
664430	Neurodevelopmental disorder-slit-like lateral ventricles-intellectual disability syndrome	102283, 611327	Malformation syndrome
662829	Intellectual disability-speech delay-dysmorphic features-T cell abnormalities syndrome	102283, 331223, 611327	Disease
652519	Cleft palate-congenital heart defect-intellectual disability syndrome	102283, 611327	Disease
652514	Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation	652519	Clinical subtype
653712	CHD4-related neurodevelopmental disorder	102283, 611327	Disease
653767	Jansen-de Vries syndrome	102283, 611327	Disease
656135	Intellectual disability-cupped ears syndrome	102283, 611327	Disease
658843	Developmental delay-ataxia-hypotonia-facial dysmorphism syndrome	102283, 611327	Malformation syndrome
662198	Neurodevelopmental delay-intellectual disability-skeletal defects syndrome	102283, 611327	Malformation syndrome
662234	Neurodevelopmental delay-congenital heart defects-intellectual disability syndrome	102283, 611327	Malformation syndrome
2983	Difference of sex development-intellectual disability syndrome	102283, 325638, 611327, 98087	Disease
3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	102283, 522548, 611327, 98641	Malformation syndrome
3177	Spinocerebellar degeneration-corneal dystrophy syndrome	102283, 183518, 611327, 98628	Malformation syndrome
2339	Keratosis follicularis-dwarfism-cerebral atrophy syndrome	102283, 611327, 79359, 79360	Malformation syndrome
3454	Wieacker-Wolff syndrome	102283, 1037, 206634, 611327	Malformation syndrome
2326	Kallmann syndrome-heart disease syndrome	102283, 181387, 611327	Malformation syndrome
2715	Severe oculo-renal-cerebellar syndrome	102283, 522520, 567562, 611327, 716459, 717348, 98683	Malformation syndrome
2135	Cutaneous mastocytosis-deafness-microtia syndrome	102283, 611327	Malformation syndrome
2557	Mietens syndrome	102283, 522520, 611327, 98628, 98683	Malformation syndrome
102285	Multiple congenital anomalies/dysmorphic syndrome without intellectual disability	68341	Category
2412	Dislocation of the hip-dysmorphism syndrome	102285, 330206	Malformation syndrome
2437	Czeizel-Losonci syndrome	102285, 165707, 330206	Malformation syndrome
2473	McKusick-Kaufman syndrome	102285, 156162, 156183, 330206	Malformation syndrome
2491	Müllerian duct anomalies-limb anomalies syndrome	102285, 165707, 180148, 330206	Malformation syndrome
2513	Microcephaly-albinism-digital anomalies syndrome	102285, 330206	Malformation syndrome
2674	Cyprus facial-neuromusculoskeletal syndrome	102285, 206634, 330206, 522520, 522548, 98641, 98683	Malformation syndrome
2832	Short tarsus-absence of lower eyelashes syndrome	102285, 330206	Malformation syndrome
2868	Short stature-valvular heart disease-characteristic facies syndrome	102285, 330206	Malformation syndrome
2876	PHAVER syndrome	102285, 330206	Malformation syndrome
2934	Polysyndactyly-cardiac malformation syndrome	102285, 330206	Malformation syndrome
2964	Autosomal dominant prognathism	102285, 330206	Malformation syndrome
2990	Autosomal recessive multiple pterygium syndrome	102285, 294060, 330206	Malformation syndrome
3241	Deafness-craniofacial syndrome	102285, 330206, 90642	Malformation syndrome
3368	Trigonocephaly-bifid nose-acral anomalies syndrome	102285, 330206	Malformation syndrome
1101	Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome	102285, 330206	Malformation syndrome
3439	Von Voss-Cherstvoy syndrome	102285, 330206	Malformation syndrome
50814	Craniolenticulosutural dysplasia	102285, 330206, 522548, 98641	Malformation syndrome
52047	Braddock syndrome	102285, 275853, 330206, 519296	Malformation syndrome
52429	Branchiootic syndrome	102285, 330206, 90642	Malformation syndrome
1655	Müllerian derivatives-lymphangiectasia-polydactyly syndrome	102285, 165707, 330206, 568047	Malformation syndrome
79107	Developmental malformations-deafness-dystonia syndrome	102285, 330206, 370106, 522548, 90642, 98641	Malformation syndrome
83619	Macrostomia-preauricular tags-external ophthalmoplegia syndrome	102285, 330206	Malformation syndrome
137776	Lethal congenital contracture syndrome type 2	102285, 294965, 330206	Malformation syndrome
137783	Lethal congenital contracture syndrome type 3	102285, 294965, 330206	Malformation syndrome
240760	Nijmegen breakage syndrome-like disorder	102285, 169346, 183422, 330206	Malformation syndrome
280558	Warsaw breakage syndrome	102285, 183422, 330206	Malformation syndrome
314002	Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome	102285, 330206	Malformation syndrome
1146	Distal arthrogryposis type 1	102285, 330206, 97120, 98738	Malformation syndrome
2053	Freeman-Sheldon syndrome	102285, 330206, 97120, 98738	Malformation syndrome
958	Acro-renal-mandibular syndrome	102285, 330206	Malformation syndrome
959	Acro-renal-ocular syndrome	102285, 330206	Malformation syndrome
991	PAGOD syndrome	102285, 180148, 180779, 325109, 325638, 330206, 98087	Malformation syndrome
1094	Anonychia-microcephaly syndrome	102285, 330206	Malformation syndrome
1104	Anophthalmia plus syndrome	102285, 330206	Malformation syndrome
1237	Beemer-Ertbruggen syndrome	102285, 330206	Malformation syndrome
1327	Camptodactyly syndrome, Guadalajara type 1	102285, 330206	Malformation syndrome
1338	Heart defect-tongue hamartoma-polysyndactyly syndrome	102285, 330206	Malformation syndrome
1373	Cataract-aberrant oral frenula-growth delay syndrome	102285, 330206, 522548, 98641	Malformation syndrome
1390	Night blindness-skeletal anomalies-dysmorphism syndrome	102285, 330206	Malformation syndrome
1529	Craniofacial-deafness-hand syndrome	102285, 330206, 90642	Malformation syndrome
1547	Cryptomicrotia-brachydactyly-excess fingertip arch syndrome	102285, 330206	Malformation syndrome
2007	Alar cartilages hypoplasia-coloboma-telecanthus syndrome	102285, 330206	Malformation syndrome
2064	Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome	102285, 330206	Malformation syndrome
2091	Multinodular goiter-cystic kidney-polydactyly syndrome	102285, 330206	Malformation syndrome
2994	Short stature-craniofacial anomalies-genital hypoplasia syndrome	102285, 330206	Malformation syndrome
2181	Hydrocephaly-tall stature-joint laxity syndrome	102285, 330206	Malformation syndrome
2211	Hypertelorism-hypospadias-polysyndactyly syndrome	102285, 165707, 330206	Malformation syndrome
2252	Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome	102285, 165707, 330206	Malformation syndrome
2353	Schilbach-Rott syndrome	102285, 165707, 330206	Malformation syndrome
2104	Dysmorphism-pectus carinatum-joint laxity syndrome	102285, 330206	Malformation syndrome
2835	Pectus excavatum-macrocephaly-dysplastic nails syndrome	102285, 330206, 79370	Malformation syndrome
1968	Flat face-microstomia-ear anomaly syndrome	102285, 330206	Malformation syndrome
1969	Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome	102285, 330206	Malformation syndrome
688581	Midface hypoplasia-hearing impairment-elliptocytosis-nephrocalcinosis syndrome	102285, 182043, 183592, 330206, 90642, 93603	Malformation syndrome
647811	Cardiac-urogenital syndrome	102285, 330206	Disease
643503	Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome	102285, 330206	Disease
68378	Congenital limb malformation	93890	Category
109009	Syndrome with limb malformations as a major feature	68378	Category
1325	Camptodactyly-taurinuria syndrome	109009, 404577	Malformation syndrome
1927	Emery-Nelson syndrome	109009, 404577	Malformation syndrome
3294	Extensor tendons of finger anomalies	109009, 404577	Malformation syndrome
109007	Arthrogryposis syndrome	109009, 404577	Category
97120	Distal arthrogryposis	109007	Clinical group
65743	Autosomal dominant multiple pterygium syndrome	294060, 97120	Malformation syndrome
1147	Sheldon-Hall syndrome	97120, 98738	Malformation syndrome
1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	97120	Malformation syndrome
1144	Arthrogryposis-like hand anomaly-sensorineural deafness syndrome	90642, 97120	Malformation syndrome
3377	Trismus-pseudocamptodactyly syndrome	97120	Malformation syndrome
65720	Arthrogryposis-severe scoliosis syndrome	97120	Malformation syndrome
251515	Distal arthrogryposis type 10	97120	Malformation syndrome
329457	Distal arthrogryposis type 5D	97120	Disease
294060	Multiple pterygium syndrome	109007	Clinical group
79447	X-linked lethal multiple pterygium syndrome	294060	Malformation syndrome
294965	Lethal congenital contracture syndrome	109007	Clinical group
488586	Congenital amyoplasia	109007	Malformation syndrome
1037	Arthrogryposis multiplex congenita	109007	Clinical group
1143	Neurogenic arthrogryposis multiplex congenita	1037	Disease
1145	Infantile-onset X-linked spinal muscular atrophy	1037, 404538	Disease
1149	Kuskokwim syndrome	1037	Malformation syndrome
1485	Arthrogryposis-hyperkeratosis syndrome, lethal form	1037	Malformation syndrome
2680	Hypomyelination neuropathy-arthrogryposis syndrome	1037	Malformation syndrome
53696	Arthrogryposis-anterior horn cell disease syndrome	1037	Malformation syndrome
319332	Autosomal recessive myogenic arthrogryposis multiplex congenita	1037, 97242	Disease
210163	Congenital lethal myopathy, Compton-North type	1037, 97245	Disease
498693	MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	1037	Disease
486811	Prenatal-onset spinal muscular atrophy with congenital bone fractures	1037, 98505	Disease
465824	Fetal encasement syndrome	109009, 404577	Malformation syndrome
109011	Non-syndromic limb malformation	183536, 68378	Category
294944	Congenital deformities of limbs	109011	Category
178382	Congenital vertical talus	294944	Morphological anomaly
295201	Congenital vertical talus, unilateral	178382	Clinical subtype
295203	Congenital vertical talus, bilateral	178382	Clinical subtype
294947	Congenital deformities of fingers	294944	Category
295014	Familial isolated clinodactyly of fingers	294947	Morphological anomaly
295016	Camptodactyly of fingers	294947	Morphological anomaly
294951	Congenital joint dislocations	109011	Category
295030	True congenital shoulder dislocation	294951	Morphological anomaly
295032	Isolated congenital radial head dislocation	294951	Morphological anomaly
295225	Congenital elbow dislocation, unilateral	295032	Clinical subtype
295227	Congenital elbow dislocation, bilateral	295032	Clinical subtype
295034	Congenital knee dislocation	294951	Morphological anomaly
295229	Congenital genu recurvatum	295034	Clinical subtype
295232	Congenital genu flexum	295034	Clinical subtype
295036	Congenital patella dislocation	294951	Morphological anomaly
294953	Non-syndromic limb overgrowth	109011	Category
295044	Macrodactyly of fingers	294953	Morphological anomaly
295241	Macrodactyly of fingers, bilateral	295044	Clinical subtype
295047	Macrodactyly of toes	294953	Morphological anomaly
295245	Macrodactyly of toes, bilateral	295047	Clinical subtype
295049	Upper limb hypertrophy	294953	Morphological anomaly
295051	Lower limb hypertrophy	294953	Morphological anomaly
295000	Amniotic band syndrome	2416, 68378	Malformation syndrome
68419	Rare vascular anomaly	93890, 98028	Category
211266	Fast-flow vascular malformation	68419	Category
715762	Unifocal fast-flow vascular malformation	211266	Clinical group
707944	Peripheral fast-flow vascular malformation	715762	Clinical group
708051	Peripheral congenital arteriovenous fistula	707944	Malformation syndrome
708007	Intramuscular fast-flow vascular anomaly	707944	Malformation syndrome
708046	Peripheral arteriovenous malformation	707944	Malformation syndrome
715744	Fast-flow vascular malformation of the central nervous system	715762	Clinical group
715750	Intracranial fast-flow vascular malformation	715744	Clinical group
46724	Brain arteriovenous malformation	102006, 211240, 371436, 715750	Morphological anomaly
715292	Brain pial arteriovenous fistula	715750	Disease
715318	Acquired intracranial dural arteriovenous fistula	715750	Disease
97339	Dural sinus malformation with arteriovenous shunt	102006, 715750	Morphological anomaly
692271	Cerebral proliferative angiopathy	166487, 715750, 98022	Disease
1053	Vein of Galen malformation	102006, 211240, 371436, 715750	Morphological anomaly
715025	Spinal fast-flow vascular malformation	715744	Clinical group
715284	Spinal cord arteriovenous malformation	715025	Morphological anomaly
715302	Spinal pial arteriovenous fistula	715025	Disease
715307	Acquired spinal dural arteriovenous fistula	715025	Morphological anomaly
715326	Spinal epidural arteriovenous malformation	715025	Morphological anomaly
715331	Paraspinal arteriovenous malformation	715025	Morphological anomaly
715757	Metameric fast-flow vascular malformation	715762	Clinical group
53721	Spinal arteriovenous metameric syndrome	102006, 715757, 79379	Malformation syndrome
141189	Cerebrofacial arteriovenous metameric syndrome	102006, 715757	Malformation syndrome
693855	Visceral arteriovenous malformation	715762	Clinical group
693846	Hepatic arteriovenous malformation	101938, 506210, 693855	Malformation syndrome
693839	Renal arteriovenous malformation	506213, 693855, 93618	Malformation syndrome
693832	Gastrointestinal tract arteriovenous malformation	117569, 165711, 693855	Malformation syndrome
693815	Uterine arteriovenous malformation	101433, 693855	Malformation syndrome
693872	Urinary tract arteriovenous malformation	101433, 693855	Malformation syndrome
714698	Arteriovenous malformation of the thoraco-abdominal-pelvic cavity	715762	Clinical group
714709	Mediastinal arteriovenous malformation	714698	Morphological anomaly
714726	Retroperitoneal arteriovenous malformation	714698	Morphological anomaly
714715	Pelvic arteriovenous malformation	714698	Morphological anomaly
714702	Abdominal arteriovenous malformation	714698	Morphological anomaly
137667	Capillary malformation-arteriovenous malformation	211240, 211266, 506222, 536391, 715466	Clinical group
693907	RASA1-related capillary malformation-arteriovenous malformation	137667	Malformation syndrome
693912	EPHB4-related capillary malformation-arteriovenous malformation	137667	Malformation syndrome
211252	Slow-flow malformation, venous type	68419	Category
715339	Multifocal peripheral venous malformation	211252	Clinical group
2451	Mucocutaneous venous malformations	459548, 715339	Malformation syndrome
714806	Multifocal sporadic venous malformation	715339	Morphological anomaly
83454	Glomuvenous malformation	102006, 371436, 459548, 715334, 715339	Malformation syndrome
140436	Familial intraosseous vascular malformation	235832, 715339	Disease
1059	Blue rubber bleb nevus	140162, 183478, 459548, 715339, 79379	Malformation syndrome
715334	Unifocal peripheral venous malformation	211252	Clinical group
714785	Unifocal sporadic venous malformation	715334	Morphological anomaly
715923	Intraosseous venous malformation	715334	Morphological anomaly
464318	Verrucous hemangioma	458837, 715334	Disease
699683	Fibro-adipose vascular anomaly	715334	Disease
217008	Segmental venous malformation	715334, 79379	Malformation syndrome
717564	Dural sinus malformation without arteriovenous shunt	211252	Malformation syndrome
714734	Sinus pericranii	211252	Morphological anomaly
221061	Familial cerebral cavernous malformation	102006, 211252, 371436, 459548	Malformation syndrome
211247	Rare capillary malformation	68419	Category
95429	Angioma serpiginosum	183478, 211247, 79379	Disease
624	Familial multiple nevi flammei	183478, 211247, 459526, 79379	Morphological anomaly
715446	Geographic pattern capillary malformation	211247	Clinical group
715460	Syndromic geographic pattern capillary malformation	715446	Clinical group
715345	Isolated geographic pattern capillary malformation	715446	Morphological anomaly
458830	Rare capillary malformation with associated anomalies	211247, 459526	Category
715453	Reticulated capillary malformation	211247	Clinical group
715353	Isolated reticulated capillary malformation	715453	Morphological anomaly
714737	Diffuse capillary malformation with overgrowth	715453	Morphological anomaly
715463	Low resistance capillary malformation	211247	Clinical group
715359	Isolated low resistance capillary malformation	715463	Morphological anomaly
715466	Syndromic low resistance capillary malformation	715463	Clinical group
1556	Cutis marmorata telangiectatica congenita	211247, 79379	Malformation syndrome
211255	Slow-flow malformation, lymphatic type	68419	Category
77240	Primary lymphedema	211240, 211255, 68346, 89826	Category
568041	Primary lymphedema without systemic or visceral involvement	77240	Category
2416	Congenital primary lymphedema without systemic or visceral involvement	568041	Clinical group
79452	Milroy disease	2416	Disease
569821	Congenital primary lymphedema of Gordon	2416	Disease
289825	Late-onset primary lymphedema without systemic or visceral involvement	568041	Clinical group
1414	Cholestasis-lymphedema syndrome	156601, 289825, 57146	Disease
90186	Meige disease	289825	Disease
569816	CELSR1-related late-onset primary lymphedema	289825	Disease
568051	GJC2-related late-onset primary lymphedema	289825	Disease
568044	Primary lymphedema with systemic or visceral involvement	77240	Category
568062	PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis	568044	Disease
568056	Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome	140162, 183494, 331193, 568044, 79391	Disease
662	Lymphedema with yellow nails	264683, 568044, 79370	Disease
69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	567562, 568044	Disease
86915	Lymphedema-atrial septal defects-facial changes syndrome	568044	Malformation syndrome
568047	Disorder with multisystemic involvement and primary lymphedema	77240	Category
742	Prolidase deficiency	568047, 611314, 68385, 79187, 79387	Disease
99807	PEHO-like syndrome	166472, 568047	Disease
2836	PEHO syndrome	166472, 182070, 183500, 441434, 568047	Disease
2415	Isolated rare lymphatic malformation	211255	Category
464321	Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome	2415, 248347	Disease
141209	Diffuse lymphatic malformation	2415	Malformation syndrome
464329	Kaposiform lymphangiomatosis	2415	Disease
717582	Coagulation abnormality associated with a vascular anomaly	68419	Clinical group
2330	Kasabach-Merritt phenomenon	248308, 717582	Particular clinical situation in a disease or syndrome
717585	Kasabach-Merritt-like phenomenon	248308, 717582	Particular clinical situation in a disease or syndrome
717593	Disseminated intravascular coagulation associated with a vascular anomaly	717582	Particular clinical situation in a disease or syndrome
717588	Localized intravascular coagulation	717582	Particular clinical situation in a disease or syndrome
458844	Rare vascular malformation of major vessels	68419	Category
981	Internal carotid absence	102006, 458844	Morphological anomaly
97598	Congenital renal artery stenosis	458844, 506213, 93618	Disease
698260	Carotid web	458844	Disease
494424	Extracranial carotid artery aneurysm	458844	Morphological anomaly
458837	Rare combined vascular malformation	68419	Clinical group
717611	Capillary-venous malformation	458837	Morphological anomaly
717605	Capillary-lymphatic malformation	458837	Morphological anomaly
717598	Lymphatic-venous malformation	458837	Malformation syndrome
717619	Capillary-lymphatic-venous malformation	458837	Morphological anomaly
211277	Complex vascular malformation with associated anomalies	68419	Category
86914	Lymphedema-cerebral arteriovenous anomaly-primary pulmonary hypertension syndrome	211277	Malformation syndrome
211237	Rare vascular tumor	68419, 98057	Category
673466	Malignant vascular tumor	211237	Clinical group
157791	Epithelioid hemangioendothelioma	459543, 673466	Disease
263413	Angiosarcoma	3394, 673466	Disease
673470	Benign vascular tumor	211237	Clinical group
1063	Tufted angioma	459543, 673470	Disease
71213	Retinal capillary malformation	102006, 371436, 673470, 716450	Disease
210584	Spindle cell hemangioma	673470	Disease
458775	Congenital hemangioma	673470	Clinical group
458785	Partially involuting congenital hemangioma	458775	Disease
141184	Rapidly involuting congenital hemangioma	458775	Disease
141179	Non-involuting congenital hemangioma	458775	Disease
675359	Anastomosing haemangioma	459543, 673470	Disease
675597	Acquired elastotic haemangioma	673470	Disease
675362	Hobnail hemangioma	673470	Disease
675369	Microvenular haemangioma	673470	Disease
675396	Epithelioid hemangioma	459543, 673470	Disease
673543	Papillary hemangioma	673470	Disease
673574	Reactive angioendotheliomatosis	673470	Disease
673568	Eccrine angiomatous hamartoma	673470, 79386	Disease
673538	Littoral cell hemangioma of the spleen	673470	Disease
673525	Intravascular papillary endothelial hyperplasia	673470, 79386	Disease
210589	Rare infantile hemangioma	673470	Clinical group
2123	Multifocal infantile hemangioma with extracutenous involvement	210589	Disease
675380	Isolated segmental infantile hemangioma	210589	Disease
673473	Borderline vascular tumor	211237	Clinical group
2122	Kaposiform hemangioendothelioma	673473, 71209	Disease
33276	Kaposi sarcoma	102024, 3394, 673473	Disease
458758	Composite hemangioendothelioma	673473	Disease
458763	Retiform hemangioendothelioma	673473	Disease
458768	Papillary intralymphatic angioendothelioma	673473	Disease
673556	Pseudomyogenic hemangioendothelioma	459543, 673473	Disease
211243	Simple vascular malformation	68419	Category
694228	Congenital intrahepatic arterioportal fistula	101938, 211243	Malformation syndrome
52662	Rare teratologic disease	93890	Category
232035	Infectious embryofetopathy	52662, 68416	Category
290	Congenital rubella syndrome	166490, 232035, 98641	Disease
858	Congenital toxoplasmosis	163588, 166490, 232035	Disease
291	Congenital varicella syndrome	232035, 98641	Disease
293	Congenital herpes simplex virus infection	163585, 232035	Disease
294	Fetal cytomegalovirus syndrome	166490, 232035	Disease
292	Congenital enterovirus infection	232035	Disease
70596	Congenital Epstein-Barr virus infection	163585, 232035	Disease
499009	Congenital syphilis	232035	Disease
251529	Toxic or drug-related embryofetopathy	108999, 52662	Category
1916	Diethylstilbestrol syndrome	180065, 251529, 399882	Malformation syndrome
40366	Acitretin/etretinate embryopathy	251529	Malformation syndrome
268249	Mycophenolate mofetil embryopathy	251529	Malformation syndrome
370068	Fetal anticonvulsant syndrome	251529	Clinical group
370076	Fetal carbamazepine syndrome	370068	Malformation syndrome
251535	Maternal disease-related embryofetopathy	52662	Category
83001	Urogenital tract malformation	101433, 93890	Category
165704	Non-syndromic urogenital tract malformation	506213, 83001	Category
182117	Non-syndromic urogenital tract malformation of female	165704	Category
180065	Non-syndromic uterovaginal malformation	180062, 182117	Category
73217	Müllerian aplasia	156622, 180065, 183731	Clinical group
180068	Partial bilateral aplasia of the Müllerian ducts	73217	Clinical group
247768	Müllerian aplasia and hyperandrogenism	180068, 325109, 325638	Malformation syndrome
180071	Unilateral aplasia of the Müllerian ducts	73217	Clinical group
180074	True unicornuate uterus	180071	Morphological anomaly
180079	Pseudounicornuate uterus	180071	Morphological anomaly
180122	Septate uterus	180065, 399882	Clinical group
180126	Complete septate uterus	180122	Morphological anomaly
180129	Partial septate uterus	180122	Morphological anomaly
180134	Bicornuate uterus	180065	Clinical group
180086	Didelphys uterus	180134	Morphological anomaly
180106	Bicervical bicornuate uterus and blind hemivagina	180086	Clinical subtype
180111	Bicervical bicornuate uterus with patent cervix and vagina	180086	Clinical subtype
180114	Unicervical bicornuate uterus	180134	Morphological anomaly
180139	Uterine hypoplasia	180065	Morphological anomaly
180142	Absence of uterine body	180065, 399882	Morphological anomaly
180145	Uterine cervical aplasia and agenesis	180065, 399882	Morphological anomaly
180151	Rare vaginal malformation	182117, 96344, 98049	Category
65681	Vaginal atresia	180151	Morphological anomaly
96269	Isolated partial vaginal agenesis	180151	Morphological anomaly
180154	Septate vagina	180151	Morphological anomaly
180157	Longitudinal vaginal septum	180154	Clinical subtype
180160	Transverse vaginal septum	180154	Clinical subtype
603515	Isolated female hypospadias	182117	Morphological anomaly
647794	Isolated persistent urogenital sinus	182117	Morphological anomaly
182121	Non-syndromic urogenital tract malformation of male	165704	Category
48	Congenital bilateral absence of vas deferens	156622, 182121, 399998, 98343	Morphological anomaly
2842	Penoscrotal transposition	182121	Morphological anomaly
49	Penile agenesis	182121, 98085	Morphological anomaly
227	Diphallia	182121	Morphological anomaly
95706	Non-syndromic posterior hypospadias	156622, 182121	Morphological anomaly
95707	Idiopathic isolated micropenis	182121	Morphological anomaly
696897	Congenital megaprepuce	182121	Morphological anomaly
495879	Congenital agenesis of the scrotum	182121	Morphological anomaly
182124	Non-syndromic urogenital tract malformation of male and female	165704	Category
165707	Syndromic urogenital tract malformation	156622, 83001	Category
1046	Lethal hemolytic anemia-genital anomalies syndrome	165707, 182043	Malformation syndrome
2487	Lower limb malformation-hypospadias syndrome	165707	Malformation syndrome
3341	Torticollis-keloids-cryptorchidism-renal dysplasia syndrome	165707	Malformation syndrome
90642	Rare syndromic genetic deafness	68361, 93890, 96210	Category
521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	102006, 371436, 90642	Malformation syndrome
171848	Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome	207015, 352309, 716405, 90642	Disease
171851	MEDNIK syndrome	183438, 281238, 309839, 611314, 79355, 90642	Disease
199343	EAST syndrome	182083, 183518, 183592, 611314, 90642, 93603, 98746	Disease
280406	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	35656, 567562, 90642	Disease
293958	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome	90642	Malformation syndrome
300333	Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome	567562, 595351, 90642	Disease
314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	68354, 90642, 94145	Disease
329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	206966, 254767, 519347, 522522, 68385, 90642	Disease
330029	Hypotrichosis-deafness syndrome	308166, 481771, 79364, 79370, 90642	Disease
330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	206966, 2443, 522548, 611314, 90642, 98641	Disease
352328	MEGDEL syndrome	289902, 309136, 352306, 68385, 90642	Disease
397744	MYH14-related peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	140465, 206650, 90642	Disease
402041	Autosomal recessive distal renal tubular acidosis	18, 90642	Clinical subtype
411590	Wolfram-like syndrome	181371, 183625, 441434, 90642	Disease
445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	181381, 183518, 183625, 90642	Disease
448251	Progressive autosomal recessive ataxia-deafness syndrome	90642	Disease
637	Full NF2-related schwannomatosis	506213, 522548, 634518, 90642, 98641	Disease
649	Norrie disease	522548, 611314, 716459, 717348, 90642, 98641	Malformation syndrome
998	Albinism-deafness syndrome	183469, 79376, 90642	Malformation syndrome
999	Ermine phenotype	90642	Malformation syndrome
1000	Ocular albinism with late-onset sensorineural deafness	284804, 90642	Disease
705	Pendred syndrome	177107, 90642	Malformation syndrome
886	Usher syndrome	156177, 716405, 90642	Disease
231183	Usher syndrome type 3	886	Clinical subtype
231169	Usher syndrome type 1	886	Clinical subtype
231178	Usher syndrome type 2	886	Clinical subtype
3463	Wolfram syndrome	181371, 183625, 441434, 90642	Disease
2597	Mitochondrial myopathy-lactic acidosis-deafness syndrome	206966, 254837, 90642	Disease
1187	Lethal ataxia with deafness and optic atrophy	247765, 611314, 79191, 90642	Disease
1188	Ataxia-deafness-intellectual disability syndrome	247765, 522520, 611314, 90642, 98683	Malformation syndrome
1368	Cataract-ataxia-deafness syndrome	183518, 522548, 90642, 98641	Disease
1490	Corneal dystrophy-perceptive deafness syndrome	90642, 98628	Malformation syndrome
2202	Palmoplantar keratoderma-deafness syndrome	90642, 98352	Disease
494	Keratoderma hereditarium mutilans	307773, 90642	Disease
2405	Thickened earlobes-conductive deafness syndrome	90642	Malformation syndrome
3216	Conductive deafness-malformed external ear syndrome	90642	Malformation syndrome
631248	Mitchell Syndrome	140453, 90642	Disease
457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	519343, 522508, 611314, 90642	Malformation syndrome
2074	Gemignani syndrome	90642, 98099	Malformation syndrome
457223	Syndromic sensorineural deafness due to combined oxidative phosphorylation defect	35696, 90642	Disease
231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	90642, 95495	Malformation syndrome
182050	MYH9-related syndromic thrombocytopenia	477794, 567562, 90642	Disease
2589	Myoclonus-cerebellar ataxia-deafness syndrome	183518, 90642	Malformation syndrome
2668	Nephropathy-deafness-hyperparathyroidism syndrome	90642	Malformation syndrome
2690	Neutropenia-monocytopenia-deafness syndrome	331184, 90642	Disease
2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome	90642, 98352	Disease
2732	Olivopontocerebellar atrophy-deafness syndrome	90642	Malformation syndrome
2815	Spastic paraparesis-deafness syndrome	90642	Malformation syndrome
2855	Perrault syndrome	325109, 325638, 35696, 399877, 485382, 90642, 95710	Disease
642945	Perrault syndrome type 1	2855	Clinical subtype
642976	Perrault syndrome type 2	2855	Clinical subtype
2866	Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome	90642	Malformation syndrome
3214	Deaf blind hypopigmentation syndrome, Yemenite type	183469, 522520, 79376, 90642, 98683	Malformation syndrome
3217	Deafness-small bowel diverticulosis-neuropathy syndrome	90642	Disease
3218	Deafness-epiphyseal dysplasia-short stature syndrome	90642	Malformation syndrome
69739	Athabaskan brainstem dysgenesis syndrome	71859, 90642, 98006	Disease
3225	Hearing loss-familial salivary gland insensitivity to aldosterone syndrome	90642	Malformation syndrome
3232	Deafness-ear malformation-facial palsy syndrome	90642	Malformation syndrome
3233	Cochleosaccular degeneration-cataract syndrome	522548, 90642, 98641	Malformation syndrome
3235	Progressive deafness with stapes fixation	90642	Malformation syndrome
3238	Cardiospondylocarpofacial syndrome	90642	Malformation syndrome
3239	Deafness-vitiligo-achalasia syndrome	90642	Malformation syndrome
1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	441434, 90642, 94145	Disease
3240	Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome	314822, 611314, 696870, 90642	Disease
42665	Tietz syndrome	183469, 79376, 90642	Malformation syndrome
49827	Thiamine-responsive megaloblastic anemia syndrome	181381, 183625, 298644, 90642, 98362, 98415	Disease
52368	Mohr-Tranebjaerg syndrome	182070, 183500, 254834, 441434, 611314, 90642	Disease
64747	X-linked Charcot-Marie-Tooth disease	166, 611314, 90642	Clinical group
99014	X-linked Charcot-Marie-Tooth disease type 5	441434, 64747, 79191	Disease
101075	X-linked Charcot-Marie-Tooth disease type 1	64747	Disease
101076	X-linked Charcot-Marie-Tooth disease type 2	64747	Disease
101077	X-linked Charcot-Marie-Tooth disease type 3	64747	Disease
101078	X-linked Charcot-Marie-Tooth disease type 4	64747	Disease
352675	X-linked Charcot-Marie-Tooth disease type 6	64747	Disease
66633	Sensorineural hearing loss-early graying-essential tremor syndrome	306712, 307061, 519296, 90642	Disease
89938	Bartter syndrome type 4	112, 506213, 90642	Clinical subtype
90024	Deafness with labyrinthine aplasia, microtia, and microdontia	90642	Malformation syndrome
90103	Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome	140459, 611314, 90642	Malformation syndrome
90646	Deafness-hypogonadism syndrome	181441, 90642	Malformation syndrome
90658	Charcot-Marie-Tooth disease type 1E	65753, 90642	Disease
97229	Riboflavin transporter deficiency	206704, 441434, 90642	Malformation syndrome
572543	RFVT2-related riboflavin transporter deficiency	183518, 97229	Clinical subtype
572550	RFVT3-related riboflavin transporter deficiency	97229	Clinical subtype
139512	Neuropathy with hearing impairment	140453, 90642	Disease
140917	Stapes ankylosis with broad thumbs and toes	90642	Malformation syndrome
447954	Combined oxidative phosphorylation defect type 25	35696, 68385, 90642	Disease
456318	Hereditary sensory neuropathy-deafness-dementia syndrome	140474, 276058, 90642, 98534	Disease
494444	DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	477794, 90642	Disease
542585	Auditory neuropathy-optic atrophy syndrome	309136, 441434, 68385, 90642	Disease
543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	207018, 309136, 441434, 611314, 68385, 90642	Disease
633014	SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome	611314, 90642	Disease
633021	SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome	633014	Clinical subtype
633024	SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome	633014	Clinical subtype
168569	H syndrome	181371, 183466, 183625, 79375, 90642	Malformation syndrome
652532	Adult-onset progressive leukoencephalopathy-early-onset deafness	68356, 90642	Disease
90771	Difference of sex development	101433, 93890, 97978	Category
2982	46,XX difference of sex development	90771	Category
98078	46,XX difference of sex development induced by androgens excess	2982, 325620	Category
90776	46,XX difference of sex development induced by fetal androgens excess	325665, 325697, 98078	Category
786	Generalized glucocorticoid resistance syndrome	181412, 90776	Disease
90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	418, 90776, 90786	Disease
90794	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	399584, 399849, 399994, 400018, 418, 90776	Disease
315306	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form	90794	Clinical subtype
315311	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form	90794	Clinical subtype
90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	418, 90776	Disease
95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	418, 90776, 90786	Disease
91144	46,XX difference of sex development induced by maternal-derived androgen	98078	Category
325093	46,XX difference of sex development induced by endogenous maternal-derived androgen	91144	Clinical group
325099	46,XX difference of sex development induced by exogenous maternal-derived androgen	91144	Clinical group
325061	46,XX difference of sex development induced by fetoplacental androgens excess	325665, 325697, 98078	Category
91	Aromatase deficiency	163637, 325061, 399572, 399831, 399983, 400011, 485382, 95710	Disease
325055	46,XX disorder of gonadal development	2982, 325697	Category
243	46,XX gonadal dysgenesis	325055, 399877, 485382, 506213, 95710, 98074	Malformation syndrome
2138	46,XX ovotesticular difference of sex development	325055, 399877, 506213, 98074	Malformation syndrome
393	46,XX testicular difference of sex development	325055, 506213, 98313	Malformation syndrome
444048	46,XX ovarian dysgenesis-short stature syndrome	325055, 399877, 485382, 95710, 98074	Disease
325109	Syndrome with 46,XX difference of sex development	2982, 325697	Category
2975	46,XX difference of sex development-skeletal anomalies syndrome	325109, 325638	Malformation syndrome
85112	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	307804, 325109, 325638	Disease
137631	Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome	264665, 264992, 317416, 325109, 325638	Disease
139466	SERKAL syndrome	325109	Malformation syndrome
98085	46,XY difference of sex development	90771	Category
98087	Syndrome with 46,XY difference of sex development	325706, 98085	Category
1770	XY type gonadal dysgenesis-associated anomalies syndrome	325638, 506213, 98087	Malformation syndrome
3097	Meacham syndrome	180148, 325638, 98087	Malformation syndrome
220	Denys-Drash syndrome	183422, 325638, 567562, 98087	Disease
347	Frasier syndrome	183422, 325638, 567562, 98087	Disease
95700	Familial adrenal hypoplasia with absent pituitary luteinizing hormone	181390, 595337, 98087	Disease
168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	325638, 506213, 98087	Malformation syndrome
168593	Sudden infant death-dysgenesis of the testes syndrome	101944, 156610, 98087	Malformation syndrome
494433	MIRAGE syndrome	156643, 181412, 595337, 611314, 90692, 98087	Disease
325118	46,XY disorder of gonadal development	325706, 98085	Category
242	46,XY complete gonadal dysgenesis	325118, 506213, 98074	Malformation syndrome
983	Testicular regression syndrome	325118, 98313	Morphological anomaly
251510	46,XY partial gonadal dysgenesis	325118, 399877, 506213, 98074, 98313	Malformation syndrome
325124	Testicular agenesis	325118, 98313	Morphological anomaly
325345	46,XY ovotesticular difference of sex development	325118, 506213, 98074	Disease
325351	46,XY difference of sex development of endocrine origin	98085	Category
754	Androgen insensitivity syndrome	325351, 325632, 325713, 399685	Clinical group
90797	Partial androgen insensitivity syndrome	754	Disease
99429	Complete androgen insensitivity syndrome	754	Disease
2856	Persistent Müllerian duct syndrome	325351, 399824, 400003	Malformation syndrome
325357	46,XY difference of sex development due to impaired androgen production	325351, 325713, 506213	Category
755	Leydig cell hypoplasia	325357, 399685	Disease
96265	Leydig cell hypoplasia due to complete LH resistance	755	Clinical subtype
96266	Leydig cell hypoplasia due to partial LH resistance	755	Clinical subtype
325448	Leydig cell hypoplasia due to LHB deficiency	755	Clinical subtype
90783	46,XY difference of sex development due to a testosterone synthesis defect	325357	Category
90786	46,XY difference of sex development due to adrenal and testicular steroidogenesis defect	325632, 90783	Category
90790	Congenital lipoid adrenal hyperplasia due to STAR deficency	399849, 400018, 418, 485382, 90786, 95710	Disease
325524	Classic congenital lipoid adrenal hyperplasia due to STAR deficency	90790	Clinical subtype
325529	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency	399584, 399994, 90790	Clinical subtype
90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	399584, 399849, 399994, 400018, 418, 485382, 90786, 95710	Disease
168558	46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency	101960, 90786	Disease
90787	46,XY difference of sex development due to testicular steroidogenesis defect	325632, 90783	Category
752	46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	399685, 399849, 400018, 90787	Disease
90796	46,XY difference of sex development due to isolated 17,20-lyase deficiency	90787	Disease
325511	46,XY difference of sex development due to a cholesterol synthesis defect	90783	Category
98086	46,XY difference of sex development due to a defect in testosterone metabolism by peripheral tissue	325357, 325632	Category
753	46,XY difference of sex development due to 5-alpha-reductase 2 deficiency	399685, 98086	Disease
443090	46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect	325357	Category
443087	46,XY difference of sex development due to testicular 17,20-desmolase deficiency	443090	Disease
325537	46,XY difference of sex development induced by maternal exposure to endocrine disruptors	325351, 506213	Category
325546	Sex chromosome difference of sex development	325690, 90771	Category
647916	Conjoined twins	93890	Malformation syndrome
68367	Rare inborn errors of metabolism	98053	Category
137	Congenital disorder of glycosylation	68367	Category
309347	Disorder of protein N-glycosylation	137	Category
79318	PMM2-CDG	309347, 371071, 371157, 371200, 611314	Disease
79319	MPI-CDG	309347, 371157, 371188, 611314	Disease
79320	ALG6-CDG	309347, 371071, 371188, 611314	Disease
79321	ALG3-CDG	309347, 371071, 611314	Disease
79324	ALG12-CDG	309347, 371047, 611314	Disease
79325	ALG8-CDG	309347, 371047, 371157, 371188, 371207, 611314, 98644	Disease
79326	ALG2-CDG	309347, 371071, 371157, 611314, 98644	Disease
79327	ALG1-CDG	309347, 371071, 611314	Disease
79328	ALG9-CDG	309347, 371071, 371157, 611314	Disease
79330	MOGS-CDG	309347, 371071, 371157, 611314, 696870	Disease
86309	DPAGT1-CDG	309347, 371071, 611314	Disease
280071	ALG11-CDG	309347, 371071, 611314	Disease
300536	DDOST-CDG	309347, 371047, 371157, 611314	Disease
324422	ALG13-CDG	309347, 371071, 371157, 611314	Disease
370921	STT3A-CDG	309347, 371071, 611314	Disease
370924	STT3B-CDG	309347, 371071, 611314	Disease
397941	MAN1B1-CDG	309347, 371047, 611314	Disease
697734	ST3GAL3-CDG	309347	Disease
695110	MAN2B2-CDG	309347, 611314	Disease
695783	EDEM3-CDG	309347, 611314	Disease
309447	Disorder of protein O-glycosylation	137	Category
309450	Disorder of O-xylosylglycan synthesis	309447	Category
466926	Seizures-scoliosis-macrocephaly syndrome	309450, 371071, 611314	Disease
480682	POGLUT1-related limb-girdle muscular dystrophy R21	102015, 309450	Disease
309458	Disorder of O-N-acetylgalactosaminylglycan synthesis	309447	Category
309463	Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis	309447	Category
309469	Disorder of O-mannosylglycan synthesis	309447	Category
34515	FKRP-related limb-girdle muscular dystrophy R9	102015, 207119, 309469, 371047	Disease
86812	POMT1-related limb-girdle muscular dystrophy R11	102015, 209030, 309469, 371047, 611314	Disease
206559	POMT2-related limb-girdle muscular dystrophy R14	102015, 209033, 309469, 371047, 611314	Disease
206564	POMGNT1-related limb-girdle muscular dystrophy R15	102015, 209024, 309469, 371047	Disease
352479	ISPD-related limb-girdle muscular dystrophy R20	102015, 207113, 309469, 371047, 611314	Disease
363623	GMPPB-related limb-girdle muscular dystrophy R19	102015, 309469, 371047, 611314	Disease
370959	Congenital muscular dystrophy with cerebellar involvement	309469, 370953, 371047, 611314	Disease
370968	Congenital muscular dystrophy with intellectual disability	309469, 370953, 371047, 611314	Disease
370980	Congenital muscular dystrophy without intellectual disability	309469, 370953, 371047	Disease
445110	Limb-girdle muscular dystrophy due to POMK deficiency	102015, 207113, 309469, 68385	Disease
309505	Disorder of fucoglycosan synthesis	309447	Category
79145	Dowling-Degos disease	183466, 309505, 371200, 79375	Disease
309515	Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation	137	Category
401820	Autosomal recessive spastic paraplegia type 67	100981, 309515	Disease
370933	GM3 synthase deficiency	309515, 352306, 371071, 371200, 611314	Disease
397922	Ferro-cerebro-cutaneous syndrome	101939, 101940, 156604, 182070, 183500, 309515	Disease
447	Paroxysmal nocturnal hemoglobinuria	158300, 164823, 182047, 309515	Disease
83639	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	248361, 309515, 371071	Disease
488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	309515, 371071, 611314	Disease
309526	Disorder of multiple glycosylation	137	Category
602	GNE myopathy	206653, 206662, 209203, 309526, 371047, 477794	Disease
79322	DPM1-CDG	309526, 371071, 611314	Disease
79323	MPDU1-CDG	309526, 371071, 371200, 611314	Disease
98873	Congenital dyserythropoietic anemia type II	309526, 85	Disease
99843	Leukocyte adhesion deficiency type II	2968, 309526, 371071, 611314	Clinical subtype
238459	SLC35A1-CDG	309526, 371071, 371207, 611314	Disease
309568	Defect in conserved oligomeric Golgi complex	309526	Category
464443	COG6-CGD	309568, 371047	Disease
95428	COG8-CDG	309568, 371071, 611314	Disease
263487	COG5-CDG	309568, 371047, 611314	Disease
263501	COG4-CDG	309568, 371071, 371157, 611314	Disease
435934	COG2-CDG	309568, 371047	Disease
309778	Defect in V-ATPase	309526	Category
692790	ATP6AP1-CDG	309778, 371047, 371157, 371200	Disease
329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	309526, 370953, 371071, 371157, 611314	Disease
443811	PGM3-CDG	309526, 331223, 611314	Disease
448010	CAD-CDG	309526, 79193	Disease
466703	TMEM199-CDG	309526, 477811	Disease
468684	CCDC115-CDG	309526, 477811	Disease
68366	Lysosomal disease	68367	Category
306511	Autosomal recessive spastic paraplegia type 48	320346, 68366, 68385	Disease
216	Neuronal ceroid lipofuscinosis	182070, 183500, 225681, 68366, 68385, 716405, 98543	Clinical group
228329	CLN1 disease	216, 98261	Disease
699718	Infantile CLN1 disease	228329	Clinical subtype
699739	Juvenile CLN1 disease	228329	Clinical subtype
699745	Adult CLN1 disease	228329	Clinical subtype
699734	Late infantile CLN1 disease	228329	Clinical subtype
228349	CLN2 disease	216, 98261	Disease
699751	Infantile CLN2 disease	228349	Clinical subtype
699769	Juvenile CLN2 disease	228349	Clinical subtype
699761	Late infantile CLN2 disease	228349	Clinical subtype
228346	CLN3 disease	216, 98261	Disease
699780	Juvenile CLN3 disease	228346	Clinical subtype
699796	Protracted juvenile CLN3 disease	228346	Clinical subtype
228343	CLN4 disease	216, 98261	Disease
314632	CLN12 disease	216, 514980	Disease
314629	CLN11 disease	216, 98261	Disease
699708	CLN14 disease	216	Disease
228360	CLN5 disease	216, 98261	Disease
699802	Late infantile CLN5 disease	228360	Clinical subtype
699807	Juvenile CLN5 disease	228360	Clinical subtype
699812	Adult CLN5 disease	228360	Clinical subtype
228363	CLN6 disease	216, 98261	Disease
700477	Adult CLN6 disease	228363	Clinical subtype
700467	Late infantile CLN6 disease	228363	Clinical subtype
700472	Juvenile CLN6 disease	228363	Clinical subtype
228366	CLN7 disease	216, 98261	Disease
228354	CLN8 disease	216, 98261	Disease
700484	Late infantile CLN8 disease	228354	Clinical subtype
352709	CLN13 disease	216, 98261	Disease
228337	CLN10 disease	216, 98261	Disease
700487	Congenital CLN10 disease	228337	Clinical subtype
700492	Late infantile CLN10 disease	228337	Clinical subtype
700497	Juvenile CLN10 disease	228337	Clinical subtype
35121	Lysosomal acid phosphatase deficiency	68366	Disease
79207	Disorder of lysosomal amino acid transport	68366	Category
834	Free sialic acid storage disease	225681, 611314, 68385, 79207	Disease
309324	Free sialic acid storage disease, infantile form	834, 93448	Clinical subtype
309331	Intermediate severe Salla disease	834	Clinical subtype
309334	Salla disease	834	Clinical subtype
79225	Sphingolipidosis	506219, 68366	Category
333	Farber disease	183484, 371442, 611314, 68385, 716405, 79225, 79382	Disease
487	Krabbe disease	182070, 183500, 371442, 441434, 68356, 68385, 79225	Disease
206443	Late-infantile/juvenile Krabbe disease	487	Clinical subtype
206448	Adult Krabbe disease	487, 98544	Clinical subtype
206436	Infantile Krabbe disease	487	Clinical subtype
512	Metachromatic leukodystrophy	207018, 371442, 441434, 68356, 68385, 79225, 98543	Disease
309256	Metachromatic leukodystrophy, late infantile form	512	Clinical subtype
309263	Metachromatic leukodystrophy, juvenile form	512	Clinical subtype
309271	Metachromatic leukodystrophy, adult form	512	Clinical subtype
355	Gaucher disease	79225	Disease
2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	355, 98688	Clinical subtype
77260	Gaucher disease type 2	264719, 355, 371442, 522520, 68385, 98544, 98683	Clinical subtype
77261	Gaucher disease type 3	264719, 355, 371442, 399185, 519341, 522506, 68385, 98544, 98688	Clinical subtype
85212	Fetal Gaucher disease	281241, 355	Clinical subtype
309252	Atypical Gaucher disease due to saposin C deficiency	355	Clinical subtype
79204	Lipid storage disease	79225	Category
646	Niemann-Pick disease type C	182070, 183500, 264968, 371442, 68385, 79204, 98544, 98687	Disease
216972	Niemann-Pick disease type C, severe perinatal form	646	Clinical subtype
216975	Niemann-Pick disease type C, severe early infantile neurologic onset	646	Clinical subtype
216978	Niemann-Pick disease type C, late infantile neurologic onset	646	Clinical subtype
216981	Niemann-Pick disease type C, juvenile neurologic onset	646	Clinical subtype
216986	Niemann-Pick disease type C, adult neurologic onset	646	Clinical subtype
275761	Lysosomal acid lipase deficiency	101940, 181437, 79204	Disease
75233	Wolman disease	275761	Clinical subtype
75234	Cholesteryl ester storage disease	275761	Clinical subtype
139406	Encephalopathy due to prosaposin deficiency	371442, 68385, 79225	Disease
309144	Gangliosidosis	371442, 79225	Category
354	GM1 gangliosidosis	309144, 611314, 68385, 93448	Disease
79255	GM1 gangliosidosis type 1	354, 519341, 522506, 716405	Clinical subtype
79256	GM1 gangliosidosis type 2	354, 519341, 522506	Clinical subtype
79257	GM1 gangliosidosis type 3	354	Clinical subtype
309152	GM2 gangliosidosis	182070, 183500, 309144, 68385	Clinical group
796	Sandhoff disease	207018, 309152, 716405, 98544	Disease
309155	Sandhoff disease, infantile form	796	Clinical subtype
309162	Sandhoff disease, juvenile form	796	Clinical subtype
309169	Sandhoff disease, adult form	796	Clinical subtype
845	Tay-Sachs disease	207018, 309152, 716405, 98544	Disease
309178	Tay-Sachs disease, infantile form	845	Clinical subtype
309185	Tay-Sachs disease, juvenile form	845	Clinical subtype
309192	Tay-Sachs disease, adult form	845	Clinical subtype
309246	GM2 gangliosidosis, AB variant	309152	Disease
352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	79225, 98096	Disease
618899	Acid sphingomyelinase deficiency	101940, 264719, 264992, 79225	Clinical group
77292	Infantile neurovisceral acid sphingomyelinase deficiency	371442, 611314, 618899, 68385, 716427	Disease
77293	Chronic visceral acid sphingomyelinase deficiency	207018, 477811, 611314, 618899	Disease
618891	Chronic neurovisceral acid sphingomyelinase deficiency	371442, 477811, 618899, 68385	Disease
309279	Glycoproteinosis	68366	Category
79215	Oligosaccharidosis	139009, 309279	Category
61	Alpha-mannosidosis	611314, 68385, 79215, 93448, 98644	Disease
309282	Alpha-mannosidosis, infantile form	61	Clinical subtype
309288	Alpha-mannosidosis, adult form	61	Clinical subtype
93	Aspartylglucosaminuria	225681, 611314, 68385, 79215, 93448	Disease
351	Galactosialidosis	68385, 716427, 79215, 93448	Disease
3137	Alpha-N-acetylgalactosaminidase deficiency	225681, 522548, 611314, 68385, 79215, 98641	Disease
79279	Alpha-N-acetylgalactosaminidase deficiency type 1	3137	Clinical subtype
79280	Alpha-N-acetylgalactosaminidase deficiency type 2	3137	Clinical subtype
79281	Alpha-N-acetylgalactosaminidase deficiency type 3	3137, 522520, 98644, 98683	Clinical subtype
309294	Sialidosis	716405, 79215	Clinical group
812	Sialidosis type 1	309294, 611314, 68385	Disease
309319	Disorder of sialic acid metabolism	68366	Category
3166	Sialuria	309319	Disease
309337	Lysosomal glycogen storage disease	68366	Category
68373	Peroxisomal disease	68367	Category
79189	Peroxisome biogenesis disorder	101940, 207018, 68356, 68373, 68385, 716405	Clinical group
44	Neonatal adrenoleukodystrophy	101960, 225686, 522520, 79189, 98644, 98683	Disease
309810	Disorder of peroxisomal alpha-, beta- and omega-oxidation	506219, 68373	Category
773	Adult Refsum disease	207018, 281238, 309810, 519286, 522568, 611314, 68356, 68385, 716405, 98096, 98644	Disease
926	Acatalasemia	309810	Disease
35706	Glutaric acidemia type 3	225696, 309810	Disease
79095	Congenital bile acid synthesis defect type 4	207018, 309810, 485631	Disease
79188	Peroxisomal beta-oxidation disorder	309810	Category
2971	Peroxisomal acyl-CoA oxidase deficiency	225686, 611314, 79188	Disease
43	X-linked adrenoleukodystrophy	101960, 181441, 182070, 183500, 225686, 68356, 68385, 79188, 98543	Disease
139396	X-linked cerebral adrenoleukodystrophy	43, 611314	Clinical subtype
139399	Adrenomyeloneuropathy	207018, 43	Clinical subtype
300	Bifunctional enzyme deficiency	79188	Disease
163684	Leukoencephalopathy-dystonia-motor neuropathy syndrome	68356, 79188	Disease
93598	Primary hyperoxaluria type 1	309810, 416	Clinical subtype
3276	Disorder of plasmalogens biosynthesis	68373	Category
438178	Fatty acyl-CoA reductase 1 deficiency	225686, 3276, 611314, 68385, 98644	Disease
642954	Autosomal recessive ataxia due to PEX16 deficiency	68373, 68385, 98096	Disease
642965	Autosomal recessive ataxia due to PEX2 deficiency	68373, 68385, 98096	Disease
95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	68373, 68385, 98096	Disease
247815	Autosomal recessive ataxia due to PEX10 deficiency	68373, 68385, 98096	Disease
79062	Disorder of amino acid and other organic acid metabolism	68367	Category
468726	Severe primary trimethylaminuria	79062	Disease
79166	Disorder of amino acid absorption and transport	79062	Category
534	Oculocerebrorenal syndrome of Lowe	156162, 183592, 506213, 519286, 522568, 611314, 79166, 93603, 98638, 98646	Malformation syndrome
214	Cystinuria	183592, 506213, 79166, 93603	Disease
93612	Cystinuria type A	214	Etiological subtype
93613	Cystinuria type B	214	Etiological subtype
2195	Dicarboxylic aminoaciduria	79166	Disease
470	Lysinuric protein intolerance	664482, 79166	Disease
94086	Blue diaper syndrome	79166	Disease
308451	Disorder of neutral amino acid transport	79166	Category
2116	Hartnup disease	183490, 308451, 611314, 68385, 79390, 93593	Disease
42062	Iminoglycinuria	308451	Disease
363429	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome	79166, 98096	Disease
324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	363429, 611314	Clinical subtype
363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency	363429, 611314	Clinical subtype
79167	Disorder of urea cycle metabolism and ammonia detoxification	79062	Category
90	Argininemia	79167	Disease
23	Argininosuccinic aciduria	611314, 79167	Disease
147	Carbamoyl-phosphate synthetase 1 deficiency	79167	Disease
187	Citrullinemia	79167	Category
247525	Citrullinemia type I	187	Disease
247546	Acute neonatal citrullinemia type I	247525	Clinical subtype
247573	Late-onset citrullinemia type I	247525	Clinical subtype
247582	Citrin deficiency	187	Category
247585	Citrullinemia type II	101940, 247582	Disease
247598	Neonatal intrahepatic cholestasis due to citrin deficiency	247582	Disease
415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	611314, 79167	Disease
927	Hyperammonemia due to N-acetylglutamate synthase deficiency	611314, 79167	Disease
35878	Hyperinsulinism-hyperammonemia syndrome	165985, 79167	Disease
401948	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	79167, 79177, 79197	Disease
664	Ornithine transcarbamylase deficiency	611314, 79167	Disease
79173	Disorder of methionine cycle and sulfur amino acid metabolism	79062	Category
562538	Autosomal recessive extra-oral halitosis	79173	Disease
619979	Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome	331217, 68385, 79173	Disease
212	Cystathioninuria	79173	Disease
622	Homocystinuria without methylmalonic aciduria	68385, 79171, 79173, 98396	Disease
2169	Methylcobalamin deficiency type cblE	611314, 622	Clinical subtype
2170	Methylcobalamin deficiency type cblG	622	Clinical subtype
308380	Methylcobalamin deficiency type cblDv1	622	Clinical subtype
168598	Methionine adenosyltransferase I/III deficiency	611314, 68385, 79173	Disease
289290	Hypermethioninemia encephalopathy due to adenosine kinase deficiency	68385, 79173	Disease
289891	Hypermethioninemia due to glycine N-methyltransferase deficiency	79173	Disease
1035	Beta-mercaptolactate cysteine disulfiduria	447874, 79173	Biological anomaly
79181	Disorder of histidine metabolism	79062	Category
2157	Histidinemia	79181	Disease
210128	Urocanic aciduria	68385, 79181	Disease
2158	Histidinuria-renal tubular defect syndrome	79181	Disease
79185	Disorder of ornithine or proline metabolism	79062	Category
289866	Disorder of proline metabolism	79185	Category
419	Hyperprolinemia type 1	225689, 289866, 611314, 68385	Disease
79101	Hyperprolinemia type 2	225689, 289866, 68385	Disease
289869	Disorder of ornithine metabolism	79185	Category
414	Gyrate atrophy of choroid and retina	207018, 289869, 716348, 717317, 98644	Disease
79187	Disorder of peptide metabolism	79062	Category
1361	Carnosinase deficiency	447874, 79187	Biological anomaly
79190	Disorder of phenylalanin or tyrosine metabolism	79062	Category
284814	Disorder of phenylalanine metabolism	79190	Category
708881	Phenylalanine hydroxylase deficiency	284814	Clinical group
716	Phenylketonuria	225689, 68385, 708881	Disease
293284	Tetrahydrobiopterin-responsive phenylketonuria	716	Clinical subtype
708895	Tetrahydrobiopterin-unresponsive phenylketonuria	716	Clinical subtype
79651	Mild hyperphenylalaninemia	708881	Clinical subtype
284818	Disorder of tyrosine metabolism	79190	Category
56	Alkaptonuria	284818, 519296, 79217, 79387	Disease
2118	Hawkinsinuria	284818	Disease
3402	Transient tyrosinemia of the newborn	284818	Disease
882	Tyrosinemia type 1	101940, 183422, 207018, 284818, 506210, 506213, 93593	Disease
28378	Tyrosinemia type 2	284818, 519288, 522558, 611314, 98357	Disease
69723	Tyrosinemia type 3	284818	Disease
101150	Autosomal recessive dopa-responsive dystonia	255, 284818, 611314	Disease
79194	Disorder of serine or glycine metabolism	79062	Category
3129	Sarcosinemia	79194	Disease
407	Glycine encephalopathy	225689, 611314, 68385, 79194	Disease
289857	Neonatal glycine encephalopathy	407	Clinical subtype
289860	Infantile glycine encephalopathy	407	Clinical subtype
289863	Atypical glycine encephalopathy	407	Clinical subtype
35705	Neurometabolic disorder due to serine deficiency	68385, 79194	Category
447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	35705, 611314	Disease
583595	Serine biosynthesis pathway deficiency, infantile/juvenile form	35705, 611314	Disease
79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	583595	Etiological subtype
79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	583595	Etiological subtype
284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	583595	Etiological subtype
243343	Dimethylglycine dehydrogenase deficiency	79194	Disease
79196	Disorder of the gamma-glutamyl cycle	79062	Category
32	Glutathione synthetase deficiency	611314, 79196, 98370	Disease
289846	Glutathione synthetase deficiency with 5-oxoprolinuria	32	Clinical subtype
289849	Glutathione synthetase deficiency without 5-oxoprolinuria	32	Clinical subtype
33572	5-oxoprolinase deficiency	79196	Disease
33573	Gamma-glutamyl transpeptidase deficiency	79196	Disease
33574	Glutamate-cysteine ligase deficiency	79196, 98370	Disease
79197	Disorder of branched-chain amino acid metabolism	79062	Category
511	Maple syrup urine disease	611314, 79197	Disease
268145	Classic maple syrup urine disease	511	Clinical subtype
268162	Intermediate maple syrup urine disease	511	Clinical subtype
268173	Intermittent maple syrup urine disease	511	Clinical subtype
268184	Thiamine-responsive maple syrup urine disease	511	Clinical subtype
289307	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency	79197	Disease
308410	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	225689, 79197	Disease
289829	Disorder of tryptophan metabolism	79062	Category
2224	Hypertryptophanemia	289829	Disease
79155	Hydroxykynureninuria	289829, 68385	Disease
289832	Disorder of lysine and hydroxylysine metabolism	79062	Category
2203	Hyperlysinemia	289832	Disease
3124	Saccharopinuria	289832	Disease
79154	2-aminoadipic 2-oxoadipic aciduria	289832	Disease
289841	Disorder of glutamine metabolism	79062	Category
557056	Spastic ataxia-dysarthria due to glutaminase deficiency	289841, 316240, 68385	Disease
557064	Neonatal epileptic encephalopathy due to glutaminase deficiency	225689, 289841, 68385	Disease
71278	Congenital brain dysgenesis due to glutamine synthetase deficiency	289841, 611314, 68385	Disease
289899	Organic aciduria	79062	Category
79158	Cerebral organic aciduria	289899	Category
653880	Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency	79158	Disease
19	2-hydroxyglutaric aciduria	225689, 68385, 79158	Clinical group
79314	L-2-hydroxyglutaric aciduria	19, 611314	Disease
79315	D-2-hydroxyglutaric aciduria	19	Disease
356978	D,L-2-hydroxyglutaric aciduria	19	Disease
25	Glutaryl-CoA dehydrogenase deficiency	68385, 79158	Disease
308448	Aminoacylase deficiency	79158	Clinical group
141	Canavan disease	182070, 183500, 225689, 308448, 68356, 68385	Disease
314911	Severe Canavan disease	141	Clinical subtype
314918	Mild Canavan disease	141	Clinical subtype
137754	Aminoacylase 1 deficiency	308448, 611314, 68385	Disease
391417	HSD10 disease	611314, 68385, 79158	Disease
85295	HSD10 disease, atypical type	391417	Clinical subtype
391428	HSD10 disease, infantile type	391417	Clinical subtype
391457	HSD10 disease, neonatal type	391417	Clinical subtype
79163	Classic organic aciduria	289899	Category
33	Isovaleric acidemia	611314, 79163	Disease
148	Multiple carboxylase deficiency	79163, 79217, 79387	Clinical group
26	Methylmalonic acidemia with homocystinuria	611314, 79163, 79171, 98396	Disease
79282	Methylmalonic acidemia with homocystinuria, type cblC	207018, 26, 544458, 576742, 716405	Clinical subtype
79283	Methylmalonic acidemia with homocystinuria, type cblD	26	Clinical subtype
79284	Methylmalonic acidemia with homocystinuria type cblF	26	Clinical subtype
369955	Methylmalonic acidemia with homocystinuria, type cblJ	26	Clinical subtype
369962	Methylmalonic acidemia with homocystinuria, type cblX	26	Clinical subtype
134	Beta-ketothiolase deficiency	611314, 79163, 79183	Disease
939	3-hydroxyisobutyric aciduria	79163	Disease
20	3-hydroxy-3-methylglutaric aciduria	309115, 79163	Disease
6	3-methylcrotonyl-CoA carboxylase deficiency	79163	Disease
35	Propionic acidemia	79163	Disease
79157	2-methylbutyryl-CoA dehydrogenase deficiency	225689, 68385, 79163	Disease
88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	611314, 68385, 79163	Disease
289504	Combined malonic and methylmalonic acidemia	611314, 79163	Disease
289902	3-methylglutaconic aciduria	79163	Clinical group
505208	3-methylglutaconic aciduria type 8	289902, 611314, 68385	Disease
67046	3-methylglutaconic aciduria type 1	289902, 611314	Disease
67047	3-methylglutaconic aciduria type 3	289902, 441434	Disease
67048	3-methylglutaconic aciduria type 4	289902, 98644	Disease
445038	3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome	289902, 331184, 611314, 68385, 98644	Disease
505216	3-methylglutaconic aciduria type 9	225689, 289902, 611314, 68385	Disease
293355	Methylmalonic acidemia without homocystinuria	79163	Clinical group
27	Vitamin B12-unresponsive methylmalonic acidemia	293355, 506213, 611314, 93593	Disease
79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	27	Clinical subtype
289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	27	Clinical subtype
28	Vitamin B12-responsive methylmalonic acidemia	293355, 506213, 79171, 93593	Disease
79310	Vitamin B12-responsive methylmalonic acidemia type cblA	28	Clinical subtype
79311	Vitamin B12-responsive methylmalonic acidemia type cblB	28	Clinical subtype
308442	Vitamin B12-responsive methylmalonic acidemia, type cblDv2	28	Clinical subtype
308425	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	293355	Disease
308407	Disorder of beta and omega amino acid metabolism	79062	Category
2066	Gamma-aminobutyric acid transaminase deficiency	225707, 308407, 68385, 79175	Disease
352728	Disorder of melanin metabolism	79062	Category
55	Oculocutaneous albinism	183469, 352728, 79376, 98706	Clinical group
79432	Oculocutaneous albinism type 2	55	Disease
79433	Oculocutaneous albinism type 3	55	Disease
79435	Oculocutaneous albinism type 4	522520, 55, 98683	Disease
352731	Oculocutaneous albinism type 1	55	Disease
79431	Oculocutaneous albinism type 1A	352731	Clinical subtype
79434	Oculocutaneous albinism type 1B	352731, 522520, 98683	Clinical subtype
352734	Minimal pigment oculocutaneous albinism type 1	352731	Clinical subtype
352737	Temperature-sensitive oculocutaneous albinism type 1	352731	Clinical subtype
352745	Oculocutaneous albinism type 7	55	Disease
370091	Oculocutaneous albinism type 5	55	Disease
370097	Oculocutaneous albinism type 6	55	Disease
597733	Oculocutaneous albinism type 8	55	Disease
284804	Ocular albinism	352728, 98706	Clinical group
54	X-linked recessive ocular albinism	284804	Disease
391381	Disorder of asparagine metabolism	79062	Category
391376	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome	391381, 68385	Disease
79161	Disorder of carbohydrate metabolism	68367	Category
79177	Gluconeogenesis disorder	79161	Category
348	Fructose-1,6-bisphosphatase deficiency	308463, 79177	Disease
2880	Phosphoenolpyruvate carboxykinase deficiency	79177	Disease
3008	Pyruvate carboxylase deficiency	611314, 79177	Disease
353308	Pyruvate carboxylase deficiency, infantile type	3008	Clinical subtype
353314	Pyruvate carboxylase deficiency, severe neonatal type	3008	Clinical subtype
353320	Pyruvate carboxylase deficiency, benign type	3008	Clinical subtype
79179	Disorder of glycerol metabolism	79161	Category
308993	Glycerol kinase deficiency	79179	Clinical group
408	Isolated glycerol kinase deficiency	308993	Disease
284411	Glycerol kinase deficiency, juvenile form	408	Clinical subtype
284414	Glycerol kinase deficiency, adult form	408	Clinical subtype
79201	Glycogen storage disease	79161	Category
368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	206959, 79201	Disease
369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	101940, 79201	Disease
371	Glycogen storage disease due to muscle phosphofructokinase deficiency	206959, 79201, 98372	Disease
370	Glycogen storage disease due to phosphorylase kinase deficiency	79201	Clinical group
715	Glycogen storage disease due to muscle phosphorylase kinase deficiency	206959, 370	Disease
79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency	101940, 206959, 370	Disease
264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	101940, 370	Disease
364	Glycogen storage disease due to glucose-6-phosphatase deficiency	101940, 506210, 79201, 93593	Disease
79258	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia	364	Clinical subtype
79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	331184, 364	Clinical subtype
57	Glycogen storage disease due to aldolase A deficiency	79201, 98372	Disease
713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	206959, 611314, 79201, 98372	Disease
2088	Fanconi-Bickel syndrome	101940, 79178, 79201, 93593	Disease
2364	Glycogen storage disease due to lactate dehydrogenase deficiency	79201	Disease
284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	206959, 2364	Clinical subtype
284435	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	2364	Clinical subtype
97234	Glycogen storage disease due to phosphoglycerate mutase deficiency	206959, 79201	Disease
99849	Glycogen storage disease due to muscle beta-enolase deficiency	206959, 79201	Disease
263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	206959, 79201	Disease
308520	Glycogen storage disease due to glycogen synthase deficiency	79201	Clinical group
2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	308520	Disease
456369	Polyglucosan body myopathy type 2	206959, 68385, 79201	Disease
308459	Disorder of glycolysis	79161	Category
868	Triose phosphate-isomerase deficiency	225696, 308459, 68385, 98372	Disease
712	Hemolytic anemia due to glucophosphate isomerase deficiency	308459, 98372	Disease
79299	Congenital glucokinase-related hyperinsulinism	165985, 308459	Disease
308463	Disorder of fructose metabolism	79161	Category
469	Hereditary fructose intolerance	101940, 104003, 308463, 309001, 506210, 93593	Disease
2056	Essential fructosuria	308463	Disease
308467	Disorder of galactose metabolism	79161	Category
352	Galactosemia	308467, 93593, 98644	Category
79237	Galactokinase deficiency	352	Disease
79238	Galactose epimerase deficiency	101940, 352	Disease
308473	Erythrocyte galactose epimerase deficiency	79238	Clinical subtype
308487	Generalized galactose epimerase deficiency	79238	Clinical subtype
79239	Classic galactosemia	101940, 352, 399853, 400022, 485382, 506210, 611314, 95710	Disease
570422	Galactose mutarotase deficiency	352	Disease
308998	Disorder of glyoxylate metabolism	79161	Category
941	D-glyceric aciduria	308998	Disease
416	Primary hyperoxaluria	308998, 506213, 716405, 93593	Disease
93599	Primary hyperoxaluria type 2	416	Clinical subtype
93600	Primary hyperoxaluria type 3	416	Clinical subtype
309001	Disorder of carbohydrate absorption and transport	79161	Category
35122	Congenital sucrase-isomaltase deficiency	104006, 309001	Disease
53690	Congenital lactase deficiency	104006, 309001	Disease
79178	Glucose transport disorder	309001	Category
35710	Glucose-galactose malabsorption	104003, 79178	Disease
69076	Familial renal glucosuria	79178, 93593	Disease
71277	Classic glucose transporter type 1 deficiency syndrome	225713, 68385, 693802, 79178	Disease
103907	Chronic diarrhea due to glucoamylase deficiency	104006, 309001	Disease
103909	Trehalase deficiency	104006, 309001	Disease
165991	Exercise-induced hyperinsulinism	165985, 309001	Disease
247794	Juvenile cataract-microcornea-renal glucosuria syndrome	309001, 522548, 93593, 98641	Disease
440701	Disorders of pentose/polyol metabolism	79161	Category
2843	Pentosuria	440701	Disease
79186	Disorder of pentose phosphate metabolism	440701	Category
101028	Transaldolase deficiency	79186	Disease
440706	Ribose-5-P isomerase deficiency	68356, 79186	Disease
440713	Isolated sedoheptulokinase deficiency	79186	Disease
79200	Disorder of energy metabolism	68367	Category
68380	Mitochondrial disease	79200	Category
223713	Mitochondrial oxidative phosphorylation disorder	68380	Category
2443	Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies	223713	Category
527276	Encephalopathy due to mitochondrial and peroxisomal fission defect	207018, 2443, 611314, 68385	Disease
330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	527276	Etiological subtype
485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	527276	Etiological subtype
611237	Parkinsonism with polyneuropathy	207018, 2443, 306666, 307055	Disease
506	Leigh syndrome	225700, 225703, 2443, 68385, 98687	Disease
1561	Fatal infantile cytochrome C oxidase deficiency	2443, 611314	Disease
35656	Coenzyme Q10 deficiency	225700, 225703, 2443, 68385	Clinical group
139485	Autosomal recessive ataxia due to ubiquinone deficiency	1172, 35656, 611314	Disease
254898	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	35656	Disease
658778	COQ7-related distal hereditary motor neuropathy	140468, 35656	Disease
35696	Mitochondrial disorder due to a defect in mitochondrial protein synthesis	2443	Category
2598	Mitochondrial myopathy and sideroblastic anemia	206966, 35696, 611314, 98362	Disease
99013	Spastic paraplegia type 7	183518, 320342, 320346, 35696, 441434	Disease
101109	Spinocerebellar ataxia type 28	35696, 94145	Disease
137681	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	101940, 35696	Disease
137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	35696, 611314, 68356	Disease
137908	Hypotonia with lactic acidemia and hyperammonemia	35696	Disease
168566	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	35696, 611314	Disease
217371	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	101939, 101940, 156604, 35696	Disease
238329	Severe X-linked mitochondrial encephalomyopathy	35696, 611314, 68385	Disease
254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	316240, 35696	Disease
254920	Combined oxidative phosphorylation defect type 2	35696	Disease
254925	Combined oxidative phosphorylation defect type 4	35696	Disease
314051	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	35696, 68356	Disease
314603	Autosomal recessive spastic ataxia with leukoencephalopathy	316240, 35696, 611314	Disease
319504	Combined oxidative phosphorylation defect type 8	35696	Disease
319509	Combined oxidative phosphorylation defect type 9	35696	Disease
319514	Combined oxidative phosphorylation defect type 13	35696	Disease
319519	Combined oxidative phosphorylation defect type 14	35696	Disease
319524	Combined oxidative phosphorylation defect type 15	35696	Disease
324535	Combined oxidative phosphorylation defect type 11	35696, 68385	Disease
363694	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome	183592, 275853, 35696, 506213, 93603	Disease
420728	Combined oxidative phosphorylation defect type 20	35696, 68385	Disease
420733	Combined oxidative phosphorylation defect type 21	35696, 68385	Disease
444458	Combined oxidative phosphorylation defect type 24	35696	Disease
565624	Combined oxidative phosphorylation defect type 39	35696, 611314, 68385	Disease
528091	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	35696	Disease
478042	Combined oxidative phosphorylation defect type 30	35696, 68385	Disease
466784	Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect	254830, 35696	Disease
477774	Combined oxidative phosphorylation defect type 27	35696, 611314, 68385	Disease
497623	C12ORF65-related combined oxidative phosphorylation defect	35696, 441434, 611314, 68385	Clinical group
254930	Combined oxidative phosphorylation defect type 7	497623	Disease
320375	Autosomal recessive spastic paraplegia type 55	431320, 497623	Disease
477684	Combined oxidative phosphorylation defect type 26	35696	Disease
466722	Autosomal recessive spastic paraplegia type 77	320346, 35696, 68385	Disease
478029	Combined oxidative phosphorylation defect type 29	182070, 183500, 35696	Disease
572798	WARS2-related combined oxidative phosphorylation defect	35696, 611314, 68385	Disease
199337	Pancreatic insufficiency-anemia-hyperostosis syndrome	101937, 165661, 2443, 293830	Disease
254822	Mitochondrial oxidative phosphorylation disorder with no known mechanism	2443	Category
50812	Zellweger-like syndrome without peroxisomal anomalies	254822, 611314	Disease
67036	Autosomal dominant optic atrophy and cataract	254822, 98672	Disease
98673	Autosomal dominant optic atrophy, classic form	254822, 98672	Disease
166105	FASTKD2-related infantile mitochondrial encephalomyopathy	254822, 68385	Disease
227976	Autosomal recessive optic atrophy, OPA7 type	254822, 441434	Disease
250932	Autosomal dominant optic atrophy and peripheral neuropathy	254822, 98672	Disease
391348	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	254822, 68385	Disease
436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	207018, 254822, 68356, 68385	Disease
457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	206966, 254822, 68385	Disease
309136	Mitochondrial disorder due to a defect in assembly or maturation of the respiratory chain complexes	2443	Category
1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	309136, 611314	Disease
123	Björnstad syndrome	309136, 611314, 79367	Disease
53693	GRACILE syndrome	101940, 309136	Disease
254843	Exercise intolerance with lactic acidosis	309136	Clinical group
43115	Hereditary myopathy with lactic acidosis due to ISCU deficiency	254843, 98486	Disease
254902	Renal tubulopathy-encephalopathy-liver failure syndrome	101940, 309136	Disease
289573	Multiple mitochondrial dysfunctions syndrome	309136, 401854, 68385	Clinical group
569290	Multiple mitochondrial dysfunctions syndrome type 6	182070, 183500, 289573	Disease
363424	Multiple mitochondrial dysfunctions syndrome type 3	289573	Disease
401869	Multiple mitochondrial dysfunctions syndrome type 1	289573	Disease
401874	Multiple mitochondrial dysfunctions syndrome type 2	289573	Disease
457406	Multiple mitochondrial dysfunctions syndrome type 4	182070, 183500, 289573, 441434, 68356	Disease
569274	Multiple mitochondrial dysfunctions syndrome type 5	182070, 183500, 289573	Disease
397593	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency	309136	Disease
352456	Mitochondrial DNA maintenance syndrome	2443	Category
35698	Mitochondrial DNA depletion syndrome	104013, 352456	Category
254803	Mitochondrial DNA depletion syndrome, encephalomyopathic form	35698, 68385	Clinical group
1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	254803, 611314	Disease
17	Fatal infantile lactic acidosis with methylmalonic aciduria	254803	Disease
255235	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy	254803, 611314	Disease
369897	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	254803	Disease
254871	Mitochondrial DNA depletion syndrome, hepatocerebral form	101940, 35698	Clinical group
1186	Infantile-onset spinocerebellar ataxia	254871, 98098	Disease
726	Alpers-Huttenlocher syndrome	182070, 183500, 225700, 225703, 254871, 611314, 68385	Disease
255229	Navajo neurohepatopathy	254871	Disease
279934	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	254871, 79191	Disease
363534	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form	183592, 254871, 506213, 68385, 93603	Disease
254875	Mitochondrial DNA depletion syndrome, myopathic form	206966, 35698, 68385, 79193	Disease
313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	316240, 35698	Disease
254807	Multiple mitochondrial DNA deletion syndrome	352456	Category
1215	Autosomal dominant optic atrophy plus syndrome	140456, 254807, 98672	Disease
254818	Ataxia neuropathy spectrum	254807	Clinical group
70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	206966, 225700, 225703, 254818	Disease
94125	Recessive mitochondrial ataxia syndrome	254818, 98096	Disease
254881	Spinocerebellar ataxia with epilepsy	254818	Disease
254886	Autosomal recessive progressive external ophthalmoplegia	254807, 520820, 68385	Disease
254892	Autosomal dominant progressive external ophthalmoplegia	254807, 520820, 68385	Disease
329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	206966, 254807	Disease
352470	DNA2-related mitochondrial DNA deletion syndrome	206966, 254807	Disease
352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	206966, 352456, 519347, 522522, 611314, 68385	Disease
391351	SURF1-related Charcot-Marie-Tooth disease type 4	2443, 64749	Disease
435998	Autosomal recessive intermediate Charcot-Marie-Tooth disease type D	2443, 268337	Disease
70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	225700, 225703, 2443, 68385, 98687	Disease
254758	Mitochondrial oxidative phosphorylation disorder due to mitochondrial DNA anomalies	223713	Category
254767	Mitochondrial oxidative phosphorylation disorder due to a large-scale single deletion of mitochondrial DNA	254758	Category
699	Pearson syndrome	104013, 181402, 254767, 98362	Disease
1670	Chronic diarrhea with villous atrophy	254767, 363300, 73014	Disease
254776	Mitochondrial oxidative phosphorylation disorder due to a point mutation of mitochondrial DNA	254758	Category
104	Leber hereditary optic neuropathy	254776, 98671	Disease
644	NARP syndrome	225700, 225703, 254776, 611314, 68385, 716405	Disease
90641	Rare mitochondrial non-syndromic sensorineural deafness	254776, 87884	Etiological subtype
254788	Mitochondrial DNA-related mitochondrial myopathy	254776	Clinical group
2596	Myopathy and diabetes mellitus	181381, 183625, 206953, 254788	Disease
254854	Pure mitochondrial myopathy	254788	Disease
254857	Lethal infantile mitochondrial myopathy	254788	Disease
254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	254788	Disease
254851	Mitochondrial DNA-related dystonia	254776	Disease
255210	Mitochondrial DNA-associated Leigh syndrome	254776, 68385	Disease
397750	Periodic paralysis with later-onset distal motor neuropathy	206976, 254776, 371433	Disease
620371	Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation	183592, 254776, 506213, 93593, 93603	Disease
254846	Isolated oxidative phosphorylation complex disorder	223713	Category
2609	Isolated complex I deficiency	206966, 225700, 254846, 611314, 68385	Disease
3208	Isolated succinate-CoQ reductase deficiency	206966, 254846, 611314	Disease
1460	Isolated complex III deficiency	254846, 611314	Disease
254905	Isolated cytochrome C oxidase deficiency	254846, 611314	Disease
254913	Isolated ATP synthase deficiency	254846	Disease
254827	Mitochondrial membrane transport disorder	68380	Category
254830	Mitochondrial substrate carrier disorder	254827	Category
255132	Adult-onset autosomal recessive sideroblastic anemia	254830, 98362	Disease
353217	Epileptic encephalopathy with global cerebral demyelination	225700, 254830	Disease
254834	Mitochondrial protein import disorder	254827	Category
254837	Unspecified mitochondrial disorder	68380	Clinical group
502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	183518, 206966, 254837, 611314	Disease
2802	X-linked sideroblastic anemia and spinocerebellar ataxia	247765, 254837, 98362	Disease
51188	Ethylmalonic encephalopathy	254837, 611314	Disease
98672	Autosomal dominant optic atrophy	254837, 98671	Clinical group
401854	Lipoic acid biosynthesis defect	68380	Category
2394	Pyruvate dehydrogenase E3 deficiency	401854, 765	Clinical subtype
401859	Lipoic acid synthetase deficiency	225700, 401854, 68385	Disease
401862	Lipoyl transferase 1 deficiency	401854	Disease
401866	Childhood-onset spasticity with hyperglycinemia	316226, 401854, 68385	Disease
447795	Lipoyl transferase 2 deficiency	225700, 401854, 68385	Biological anomaly
508093	MEPAN syndrome	182070, 183500, 391711, 401854, 441434, 68385	Malformation syndrome
79172	Creatine deficiency syndrome	225696, 79200	Clinical group
382	Guanidinoacetate methyltransferase deficiency	611314, 68385, 79172	Disease
35704	L-Arginine:glycine amidinotransferase deficiency	68385, 79172	Disease
79174	Disorder of fatty acid oxidation and ketone body metabolism	79200	Category
79183	Disorder of ketolysis	79174	Category
832	Succinyl-CoA:3-oxoacid CoA transferase deficiency	79183	Disease
309115	Disorder of fatty acid oxidation and ketogenesis	79174	Category
35701	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	309115	Disease
309120	Acyl-CoA dehydrogenase deficiency	309115	Clinical group
42	Medium chain acyl-CoA dehydrogenase deficiency	309120	Disease
26792	Short chain acyl-CoA dehydrogenase deficiency	206953, 309120	Disease
329942	Transient neonatal multiple acyl-CoA dehydrogenase deficiency	309120	Disease
309127	3-hydroxyacyl-CoA dehydrogenase deficiency	309115	Clinical group
71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	165985, 225696, 309127, 68385	Disease
309130	Disorder of carnitine cycle and carnitine transport	79174	Category
157	Carnitine palmitoyltransferase II deficiency	206953, 309130	Disease
228302	Carnitine palmitoyl transferase II deficiency, myopathic form	157	Clinical subtype
228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	157	Clinical subtype
228308	Carnitine palmitoyl transferase II deficiency, neonatal form	157	Clinical subtype
156	Carnitine palmitoyl transferase 1A deficiency	309130	Disease
309133	Metabolic disease due to other fatty acid oxidation disorder	79174	Category
943	Malonic aciduria	309133	Disease
438072	Disorder of keton body transport	79174	Category
438075	Ketoacidosis due to monocarboxylate transporter-1 deficiency	438072	Disease
254746	Pyruvate metabolism disorder	79200	Category
765	Pyruvate dehydrogenase deficiency	225700, 225703, 254746, 611314	Disease
79243	Pyruvate dehydrogenase E1-alpha deficiency	765	Clinical subtype
79244	Pyruvate dehydrogenase E2 deficiency	765	Clinical subtype
79246	Pyruvate dehydrogenase phosphatase deficiency	765	Clinical subtype
255138	Pyruvate dehydrogenase E1-beta deficiency	765	Clinical subtype
255182	Pyruvate dehydrogenase E3-binding protein deficiency	765	Clinical subtype
766	Hemolytic anemia due to red cell pyruvate kinase deficiency	254746, 98372	Disease
447784	Mitochondrial pyruvate carrier deficiency	254746, 68385	Disease
254749	Tricarboxylic acid cycle disorder	79200	Category
615964	Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate	254749, 68385	Disease
31	Oxoglutaric aciduria	225700, 225703, 254749, 68385	Disease
24	Fumaric aciduria	225700, 225703, 254749, 68385	Disease
313850	Infantile cerebellar-retinal degeneration	182070, 183500, 254749, 441434, 68385, 716405	Disease
79214	Disorder of biogenic amine metabolism and transport	68367	Category
79169	Disorder of neurotransmitter metabolism and transport	79214	Category
3057	Monoamine oxidase A deficiency	611314, 68385, 79169	Disease
309819	Disorder of pterin metabolism	68385, 79169	Category
255	Dopa-responsive dystonia	309819, 391711	Clinical group
70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	255, 611314	Disease
98808	Autosomal dominant dopa-responsive dystonia	255, 611314	Disease
238583	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	309819	Disease
226	Dihydropteridine reductase deficiency	238583	Clinical subtype
13	6-pyruvoyl-tetrahydropterin synthase deficiency	238583	Clinical subtype
2102	GTP cyclohydrolase I deficiency	238583	Clinical subtype
1578	Pterin-4 alpha-carbinolamine dehydratase deficiency	238583	Clinical subtype
508523	Hyperphenylalaninemia due to DNAJC12 deficiency	309819, 391711	Disease
309830	Disorder of catecholamine synthesis	79169	Category
35708	Aromatic L-amino acid decarboxylase deficiency	309830, 68385	Disease
352649	Brain dopamine-serotonin vesicular transport disease	391711, 611314, 79169	Disease
79175	Disorder of gamma-aminobutyric acid metabolism	79214	Category
22	Succinic semialdehyde dehydrogenase deficiency	225707, 611314, 68385, 79175	Disease
79192	Disorder of pyridoxine metabolism	79214	Category
3006	Pyridoxine-dependent-developmental and epileptic encephalopathy	225707, 611314, 68385, 693802, 79192	Disease
79096	Pyridoxamine-5-phosphate deficiency-developmental and epileptic encephalopathy	225707, 309833, 611314, 68385, 693802, 79192	Disease
79219	Metabolic disease involving other neurotransmitter deficiency	225707, 79214	Category
3197	Hereditary hyperekplexia	183521, 306773, 611314, 68385, 79219, 98747	Disease
132	Hereditary butyrylcholinesterase deficiency	79219	Disease
79097	Folinic acid-responsive seizures	68385, 79219	Disease
79224	Disorder of purine or pyrimidine metabolism	68367	Category
79191	Disorder of purine metabolism	79224	Category
45	Adenosine monophosphate deaminase deficiency	206966, 68385, 79191	Disease
760	Purine nucleoside phosphorylase deficiency	480549, 611314, 79191	Disease
3467	Hereditary xanthinuria	79191, 93593	Disease
93601	Xanthinuria type I	3467	Etiological subtype
93602	Xanthinuria type II	3467	Etiological subtype
46	Adenylosuccinate lyase deficiency	180772, 225713, 611314, 79191	Disease
976	Adenine phosphoribosyltransferase deficiency	506213, 79191, 93593	Disease
3222	Phosphoribosylpyrophosphate synthetase superactivity	611314, 79191, 93593	Disease
411536	Mild phosphoribosylpyrophosphate synthetase superactivity	3222	Clinical subtype
411543	Severe phosphoribosylpyrophosphate synthetase superactivity	3222	Clinical subtype
277	Severe combined immunodeficiency due to adenosine deaminase deficiency	317419, 79191	Disease
99138	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction	79191, 98374	Disease
206428	Hypoxanthine-guanine phosphoribosyltransferase deficiency	506213, 611314, 68385, 79191, 93593, 98415	Clinical group
510	Lesch-Nyhan syndrome	206428	Disease
79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	206428	Disease
250977	AICA-ribosiduria	611314, 716342, 79191	Disease
423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency	611314, 68385, 716405, 79191	Disease
457375	ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	182070, 183500, 225713, 68385, 79191	Disease
79193	Disorder of pyrimidine metabolism	79224	Category
30	Hereditary orotic aciduria	611314, 79193, 98415	Disease
1675	Dihydropyrimidine dehydrogenase deficiency	79193	Disease
35120	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	79193, 98374	Disease
38874	Dihydropyrimidinuria	79193	Disease
65287	Beta-ureidopropionase deficiency	225707, 68385, 79193	Disease
309147	Hyper-beta-alaninemia	225689, 79193	Disease
91088	Other metabolic disease	68367	Category
657	Congenital isolated hyperinsulinism	276525, 91088	Clinical group
165985	Diazoxide-sensitive diffuse hyperinsulinism	657	Clinical group
263455	Congenital hyperinsulinism due to HNF4A deficiency	165985	Disease
276556	Hyperinsulinism due to UCP2 deficiency	165985	Disease
276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	165985	Disease
276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	165985	Disease
324575	Hyperinsulinism due to HNF1A deficiency	165985	Disease
276585	Diazoxide-resistant hyperinsulinism	657	Clinical group
79298	Diazoxide-resistant focal hyperinsulinism	276585	Clinical group
276598	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency	79298	Disease
276603	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	79298	Disease
165988	Diazoxide-resistant diffuse hyperinsulinism	276585	Clinical group
79643	Autosomal recessive hyperinsulinism due to SUR1 deficiency	165988	Disease
79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency	165988, 611314	Disease
289877	Transient hyperammonemia of the newborn	91088	Particular clinical situation in a disease or syndrome
60	Alpha-1-antitrypsin deficiency	101940, 101944, 156610, 250808, 506210, 91088, 93593	Disease
714	Hemolytic anemia due to diphosphoglycerate mutase deficiency	91088, 98372	Disease
79507	Hypotonia-failure to thrive-microcephaly syndrome	91088	Disease
99845	Genetic recurrent myoglobinuria	206953, 352312, 91088	Disease
99846	Autosomal dominant myoglobinuria	206953, 91088	Disease
404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	183484, 281244, 611314, 79382, 91088, 98604	Disease
555402	NAD(P)HX dehydratase deficiency	182070, 183500, 68385, 91088	Disease
555407	NAD(P)HX epimerase deficiency	182070, 183500, 68385, 91088	Disease
309005	Disorder of lipid metabolism	68367	Category
79226	Sterol metabolism disorder	309005	Category
79168	Disorder of bile acid synthesis	79226	Category
84065	Idiopathic malabsorption due to bile acid synthesis defects	104005, 79168	Disease
163631	Bile acid synthesis defect with cholestasis and malabsorption	284385, 506210, 79168	Category
485631	Congenital bile acid synthesis defect	163631	Clinical group
79301	Congenital bile acid synthesis defect type 1	485631	Disease
79302	Congenital bile acid synthesis defect type 3	485631	Disease
79303	Congenital bile acid synthesis defect type 2	485631	Disease
909	Cerebrotendinous xanthomatosis	163631, 181437, 183484, 207018, 225710, 611314, 68356, 68385, 79382, 98096, 98544, 98644	Disease
238475	Familial hypercholanemia	163631	Disease
276066	Bile acid CoA ligase deficiency and defective amidation	163631	Disease
209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	477811, 79168	Disease
101953	Rare dyslipidemia	156638, 309005, 97978	Category
181422	Rare hyperlipidemia	101953	Category
412	Dysbetalipoproteinemia	181422	Disease
181428	Familial Hyperalphalipoproteinemia	181422	Biological anomaly
444490	Familial chylomicronemia syndrome	181422	Disease
309015	Familial lipoprotein lipase deficiency	444490	Etiological subtype
309020	Familial apolipoprotein C-II deficiency	444490	Etiological subtype
535453	Familial lipase maturation factor 1 deficiency	444490	Etiological subtype
535458	Familial GPIHBP1 deficiency	444490	Etiological subtype
530849	Familial apolipoprotein A5 deficiency	444490	Etiological subtype
140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	181422	Disease
477811	Rare hypercholesterolemia	181422	Category
391665	Homozygous familial hypercholesterolemia	477811	Disease
181431	Rare hypolipidemia	101953	Category
31153	Hypoalphalipoproteinemia	181431	Clinical group
650	LCAT deficiency	31153, 506213, 93593, 98628	Disease
79292	Fish-eye disease	650	Clinical subtype
79293	Familial LCAT deficiency	182043, 650	Clinical subtype
425	Apolipoprotein A-I deficiency	31153	Disease
31150	Tangier disease	207018, 207021, 31153, 68385	Disease
31154	Hypobetalipoproteinemia	181431	Clinical group
14	Abetalipoproteinemia	104005, 207018, 31154, 363306, 68385, 716405, 98096, 98366, 98644	Disease
71	Chylomicron retention disease	104005, 31154, 363306	Disease
181437	Rare syndromic dyslipidemia	101953	Category
2882	Sitosterolemia	181437	Disease
329481	Lipoprotein glomerulopathy	181437, 183586, 93548	Disease
309028	Disorder of lipid absorption and transport	101937, 165661, 309005	Category
309031	Pancreatic triacylglycerol lipase deficiency	309028	Disease
309108	Pancreatic colipase deficiency	309028	Disease
309111	Combined pancreatic lipase-colipase deficiency	309028	Disease
352301	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis	309005	Category
352306	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement	352301	Category
615938	Spastic paraparesis-cataracts-speech delay syndrome	100979, 352306, 68385, 98644	Clinical syndrome
506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	100981, 352306, 611314	Disease
816	Sjögren-Larsson syndrome	281238, 352306, 611314, 68385, 716427	Disease
139480	Autosomal recessive spastic paraplegia type 39	100981, 352306	Disease
157850	Pantothenate kinase-associated neurodegeneration	263440, 309833, 352306, 385, 716405	Disease
216866	Classic pantothenate kinase-associated neurodegeneration	157850	Clinical subtype
216873	Atypical pantothenate kinase-associated neurodegeneration	157850	Clinical subtype
329303	PLA2G6-associated neurodegeneration	352306, 385	Clinical group
35069	Infantile neuroaxonal dystrophy	329303, 98497	Disease
199351	Adult-onset dystonia-parkinsonism	306666, 307055, 329303, 391711	Disease
329308	Fatty acid hydroxylase-associated neurodegeneration	100981, 352306, 385, 441434	Disease
352333	Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	281238, 352306, 611314, 68385	Disease
423296	Spinocerebellar ataxia type 38	352306, 94148	Disease
424027	Progressive myoclonic epilepsy type 8	352306, 98261	Disease
431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	352306, 68356, 68385	Disease
352309	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement	352301	Category
36386	Hereditary sensory and autonomic neuropathy type 1	140474, 352309	Disease
352312	Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement	352301	Category
165	Neutral lipid storage disease	206953, 352312	Clinical group
98907	Neutral lipid storage disease with ichthyosis	165, 281244, 611314, 98644	Disease
98908	Neutral lipid storage disease with myopathy	165	Disease
280671	Megaconial congenital muscular dystrophy	352312, 97242	Disease
506334	Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	352301, 567562, 595337	Disease
309340	Disorder of lysosomal-related organelles	68367	Category
167	Chédiak-Higashi syndrome	182070, 183494, 183500, 207015, 284811, 309340, 331249, 79391, 98456	Disease
79430	Hermansky-Pudlak syndrome	284811, 309340, 98456	Disease
183678	Hermansky-Pudlak syndrome due to AP-3 deficiency	331184, 331249, 79430	Clinical subtype
664500	Hermansky-Pudlak syndrome due to AP3B1 deficiency	183678	Clinical subtype
664511	Early-onset severe Hermansky-Pudlak syndrome with hearing loss, due to AP3D1 deficiency	183678, 611314	Clinical subtype
231500	Hermansky-Pudlak syndrome due to BLOC-3 deficiency	264719, 79430	Clinical subtype
231512	Hermansky-Pudlak syndrome due to BLOC-2 deficiency	79430	Clinical subtype
231531	Hermansky-Pudlak syndrome due to BLOC-1 deficiency	79430	Clinical subtype
309813	Disorder of porphyrin and heme metabolism	68367	Category
738	Porphyria	183490, 309813, 79387, 79390, 93593	Clinical group
659681	Erythropoietic porphyria	738	Clinical group
79277	Congenital erythropoietic porphyria	659681, 98369	Disease
79278	Autosomal erythropoietic protoporphyria	659681, 98369	Disease
443197	X-linked erythropoietic protoporphyria	659681	Disease
280379	Erythropoietic uroporphyria associated with myeloid malignancy	659681	Disease
95159	Hepatoerythropoietic porphyria	659681	Disease
659672	Harderoporphyria	659681, 98369	Disease
659694	Hepatic porphyria	101940, 738	Clinical group
95157	Acute hepatic porphyria	207018, 506210, 659694	Clinical group
79273	Hereditary coproporphyria	95157	Disease
79276	Acute intermittent porphyria	95157	Disease
79473	Variegate porphyria	95157	Disease
100924	Porphyria due to ALA dehydratase deficiency	95157	Disease
659698	Hepatic cutaneous porphyria	659694	Clinical group
101330	Porphyria cutanea tarda	659698	Disease
443057	Sporadic porphyria cutanea tarda	101330	Clinical subtype
443062	Familial porphyria cutanea tarda	101330	Clinical subtype
75563	X-linked sideroblastic anemia	309813, 98362	Disease
309816	Disorder of bilirubin metabolism and excretion	309813	Category
205	Crigler-Najjar syndrome	101940, 309816, 506210	Disease
79234	Crigler-Najjar syndrome type 1	205	Clinical subtype
79235	Crigler-Najjar syndrome type 2	205	Clinical subtype
234	Dubin-Johnson syndrome	101940, 309816	Disease
3111	Rotor syndrome	101940, 309816	Disease
172	Progressive familial intrahepatic cholestasis	284385, 309816, 506210	Disease
79304	Progressive familial intrahepatic cholestasis type 2	172	Clinical subtype
79305	Progressive familial intrahepatic cholestasis type 3	172	Clinical subtype
79306	Progressive familial intrahepatic cholestasis type 1	172	Clinical subtype
480483	Progressive familial intrahepatic cholestasis type 4	172	Clinical subtype
480491	MYO5B-related progressive familial intrahepatic cholestasis	172	Clinical subtype
480476	Progressive familial intrahepatic cholestasis type 5	172	Clinical subtype
168583	Hereditary North American Indian childhood cirrhosis	172	Clinical subtype
65682	Benign recurrent intrahepatic cholestasis	284385, 309816	Disease
99960	Benign recurrent intrahepatic cholestasis type 1	65682	Clinical subtype
99961	Benign recurrent intrahepatic cholestasis type 2	65682	Clinical subtype
415286	Bilirubin encephalopathy	309816, 68385	Clinical group
529799	Acute bilirubin encephalopathy	415286	Clinical syndrome
529808	Chronic bilirubin encephalopathy	415286	Clinical syndrome
562509	Heme oxygenase-1 deficiency	309813	Disease
309824	Disorder of metabolite absorption and transport	68367	Category
309827	Disorder of vitamin and non-protein cofactor absorption and transport	309824	Category
79171	Disorder of cobalamin metabolism and transport	309827	Category
859	Transcobalamin deficiency	331217, 79171, 98396	Disease
2967	Transcobalamin I deficiency	79171	Disease
332	Congenital intrinsic factor deficiency	79171, 98396	Disease
35858	Imerslund-Gräsbeck syndrome	104004, 79171, 93593, 98396	Disease
280183	Methylmalonic aciduria due to transcobalamin receptor defect	79171	Biological anomaly
285657	Disorder of folate metabolism and transport	309827	Category
597874	MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome	225713, 285657, 611314, 68356, 68385	Disease
658813	Combined immunodeficiency-megaloblastic anemia due to methylenetetrahydrofolate dehydrogenase 1 deficiency	285657, 98408	Disease
661412	Megaloblastic anemia-immunodeficiency due to folate transporter 1 deficiency	285657, 331217, 98408	Disease
395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	207018, 225713, 285657	Disease
51208	Formiminoglutamic aciduria	285657, 98408	Disease
90045	Hereditary folate malabsorption	104004, 285657, 331217, 611314, 98408	Disease
217382	Neurodegenerative syndrome due to cerebral folate transport deficiency	182070, 183500, 225713, 285657, 68385	Disease
319651	Constitutional megaloblastic anemia with severe neurologic disease	225713, 285657, 98408	Disease
298644	Disorder of thiamine metabolism and transport	309827	Category
217396	Progressive polyneuropathy with bilateral striatal necrosis	298644, 68385	Disease
65284	Biotin-thiamine-responsive basal ganglia disease	298644, 68385	Disease
199348	Thiamine-responsive encephalopathy	166472, 298644	Disease
263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	298644, 611314	Disease
293955	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	298644	Disease
309833	Disorder of other vitamins and cofactors metabolism and transport	309827	Category
96	Ataxia with vitamin E deficiency	207018, 309833, 68385, 716405, 98096	Disease
79241	Biotinidase deficiency	207018, 309833	Disease
98434	Hereditary combined deficiency of vitamin K-dependent clotting factors	169826, 309833	Disease
199285	Hereditary hypercarotenemia and vitamin A deficiency	309833	Disease
352718	Progressive retinal dystrophy due to retinol transport defect	309833, 716410, 717324	Disease
411712	Maternal riboflavin deficiency	309833	Disease
79242	Holocarboxylase synthetase deficiency	309833	Disease
521268	Sodium-dependent multivitamin transporter deficiency	207018, 309833	Disease
309836	Disorder of mineral absorption and transport	309824	Category
309839	Disorder of copper metabolism	309836	Category
905	Wilson disease	101940, 207018, 225692, 306712, 307061, 309839, 370106, 506210, 68385, 93593, 98033, 98687	Disease
565	Menkes disease	225692, 309839, 611314, 68385, 79367	Disease
1551	Familial benign copper deficiency	309839	Disease
139557	X-linked distal spinal muscular atrophy type 3	309839, 404538	Disease
300313	Congenital cataract-hearing loss-severe developmental delay syndrome	309839, 522548, 611314, 68385, 98641	Disease
48818	Aceruloplasminemia	309839, 309842, 385, 716405, 98360	Disease
521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	309839, 91024	Disease
309842	Disorder of iron metabolism and transport	309836	Category
446	Neonatal hemochromatosis	101940, 309842, 506210	Disease
1195	Congenital atransferrinemia	309842, 98360	Disease
83642	Microcytic anemia with liver iron overload	309842, 98360	Disease
139507	Dietary iron overload disease	101940, 309842	Disease
157846	Neuroferritinopathy	158266, 309842, 385	Disease
220489	Rare hereditary hemochromatosis	101940, 309842, 506210	Category
465508	Symptomatic form of HFE-related hemochromatosis	220489	Disease
648569	Non-HFE-related hemochromatosis	220489	Clinical group
225123	TFR2-related hemochromatosis	648569	Disease
647834	SLC40A1-related hemochromatosis	648569	Disease
79230	HJV or HAMP-related hemochromatosis	648569	Disease
648581	Digenic hemochromatosis	220489	Disease
247790	FTH1-related iron overload	101940, 309842	Disease
440731	L-ferritin deficiency	158300, 309842, 97992	Biological anomaly
163	Hereditary hyperferritinemia-cataract syndrome	309842, 522548, 98641	Disease
648562	Ferroportin disease	101940, 309842	Disease
309845	Disorder of zinc metabolism and transport	309836	Category
505242	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	182070, 183500, 183592, 309845, 93603, 98688	Disease
251523	Hyperzincemia and hypercalprotectinemia	290842, 309845, 324927, 324942, 619238, 622720, 79387	Disease
309848	Disorder of magnesium transport	309836	Category
30924	Primary hypomagnesemia with secondary hypocalcemia	183592, 309848, 93603	Disease
34528	Autosomal dominant primary hypomagnesemia with hypocalciuria	183592, 309848, 93603	Disease
199326	Isolated autosomal dominant hypomagnesemia, Glaudemans type	183592, 309848, 93603	Disease
564178	Primary hypomagnesemia-refractory seizures-intellectual disability syndrome	166472, 183592, 309848, 611314, 93603	Disease
620368	EGF-related primary hypomagnesemia with intellectual disability	183592, 309848, 93603	Disease
306516	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis	183592, 309848, 506213, 93603	Disease
2196	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	306516, 716405	Clinical subtype
31043	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement	306516	Clinical subtype
309851	Disorder of manganese transport	309836	Category
309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	101940, 306666, 307055, 309851	Disease
521406	Dystonia-parkinsonism-hypermanganesemia syndrome	309851, 391711, 611314	Disease
97935	Rare gastroenterologic disease		Category
101936	Rare gastroesophageal disease	97935	Category
231080	High-grade dysplasia in patients with Barrett esophagus	101936	Particular clinical situation in a disease or syndrome
930	Idiopathic achalasia	101936	Disease
2494	Ménétrier disease	101936	Disease
2070	Eosinophilic gastroenteritis	101936, 402029	Disease
2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	101936, 140162, 165658, 98353	Disease
2575	Cystic fibrosis-gastritis-megaloblastic anemia syndrome	101936, 165658	Disease
54028	Plummer-Vinson syndrome	101936, 248302	Disease
71272	Sandifer syndrome	101936, 306768	Disease
180821	Rare gastroesophageal tumor	101936, 98059	Category
63443	Rare epithelial tumor of stomach	180821	Category
100075	Neuroendocrine tumor of stomach	481508, 63443	Disease
423771	Rare carcinoma of stomach	63443	Category
36273	Gastric linitis plastica	423771	Disease
313920	Epstein-Barr virus-associated gastric carcinoma	289651, 423771	Disease
418959	Squamous cell carcinoma of the stomach	423771	Disease
423776	Hereditary gastric cancer	423771	Category
26106	Hereditary diffuse gastric cancer	165658, 271835, 423776	Disease
314022	Gastric adenocarcinoma and proximal polyposis of the stomach	423776	Disease
423786	Undifferentiated carcinoma of stomach	423771	Disease
464756	Familial gastric type 1 neuroendocrine tumor	63443	Disease
70482	Carcinoma of esophagus	180821	Clinical group
99976	Adenocarcinoma of the oesophagus and oesophagogastric junction	70482	Disease
99977	Squamous cell carcinoma of the esophagus	70482	Disease
418945	Carcinoma of esophagus, salivary gland type	70482	Disease
418951	Undifferentiated carcinoma of esophagus	70482	Disease
506136	Neuroendocrine neoplasm of esophagus	180821, 481508	Disease
329883	Non-hypoproteinemic hypertrophic gastropathy	101936	Disease
401945	Moyamoya disease with early-onset achalasia	101936, 165658, 477771	Disease
558411	Idiopathic gastroparesis	101936	Disease
2069	Gastrocutaneous syndrome	101936, 165658, 183466, 79375	Disease
487809	Pediatric collagenous gastritis	101936	Disease
101937	Rare pancreatic disease	97935	Category
586	Cystic fibrosis	101937, 101941, 101944, 156607, 156610, 165661, 399824, 400003, 506210, 506222	Disease
676	Autosomal dominant hereditary chronic pancreatitis	101937, 165661, 181381, 183625	Disease
103918	Tropical pancreatitis	101937	Disease
103919	Autoimmune pancreatitis	101937	Clinical group
280302	Autoimmune pancreatitis type 1	103919, 596448	Clinical subtype
280315	Autoimmune pancreatitis type 2	103919	Disease
180824	Rare tumor of pancreas	101937, 98059	Category
424033	Rare epithelial tumor of pancreas	180824	Category
677	Pancreatoblastoma	424033	Disease
506052	Neuroendocrine neoplasm of pancreas	100092, 424033	Category
97253	Neuroendocrine tumor of pancreas	506052	Category
506060	Functioning neuroendocrine tumor of pancreas	97253	Category
913	Zollinger-Ellison syndrome	100076, 506060	Disease
97261	GRFoma	506060	Disease
97278	PPoma	506060	Disease
97279	Insulinoma	506060	Disease
97280	Glucagonoma	506060	Disease
97282	VIPoma	506060	Disease
97283	Somatostatinoma	100076, 100077, 506060	Disease
99889	Cushing syndrome due to ectopic ACTH secretion	506060, 99892	Disease
506090	Serotonin-producing neuroendocrine tumor of pancreas	506060	Disease
506075	Non-functioning neuroendocrine tumor of pancreas	97253	Disease
506098	Neuroendocrine carcinoma of pancreas	506052	Disease
506112	Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas	506052	Disease
217074	Rare carcinoma of pancreas	424033	Category
1333	Familial pancreatic carcinoma	165661, 217074	Disease
424039	Squamous cell carcinoma of pancreas	217074	Disease
424046	Acinar cell carcinoma of pancreas	217074	Disease
424053	Mucinous cystadenocarcinoma of the pancreas	217074	Disease
424058	Intraductal papillary mucinous carcinoma of pancreas	217074	Disease
424065	Pancreatic solid pseudopapillary neoplasm	217074	Disease
424073	Serous cystadenocarcinoma of pancreas	217074	Disease
424080	Undifferentiated carcinoma with osteoclast-like giant cells of pancreas	217074	Disease
93292	Adenoma of pancreas	165711, 424033	Disease
580572	Intraductal tubulopapillary neoplasm of pancreas	424033	Disease
438274	GCGR-related hyperglucagonemia	165711, 180824	Disease
300552	Follicular cholangitis and pancreatitis	101937, 101941	Disease
313906	Congenital pancreatic cyst	101937, 506216	Morphological anomaly
697132	Lymphoepithelial cyst of the pancreas	101937	Disease
700133	Idiopathic chronic pancreatitis	101937	Disease
700136	Early-onset idiopathic chronic pancreatitis	700133	Clinical subtype
700139	Late-onset idiopathic chronic pancreatitis	700133	Clinical subtype
700124	Autosomal recessive hereditary chronic pancreatitis	101937, 165661	Disease
695131	Acinar cystic transformation of the pancreas	101937	Disease
117569	Rare intestinal disease	97935	Category
3452	Whipple disease	117569, 163582, 183710, 306753	Disease
556	Malakoplakia	117569	Disease
36204	Intestinal lymphangiectasia	117569	Clinical group
90362	Primary intestinal lymphangiectasia	165655, 36204	Disease
90363	Secondary intestinal lymphangiectasia	36204	Disease
566175	Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome	165655, 36204	Disease
70475	Radiation proctitis	117569, 521132	Disease
73014	Intractable diarrhea of infancy	117569, 506216	Category
2290	Microvillus inclusion disease	104007, 363300, 73014	Disease
84064	Trichohepatoenteric syndrome	101939, 156604, 363300, 477647, 481671, 717865, 73014	Disease
92050	Congenital tufting enteropathy	104007, 363300, 717865, 73014	Disease
329242	Congenital chronic diarrhea with protein-losing enteropathy	363300, 73014	Disease
103908	Congenital sodium diarrhea	104003, 363300, 717851, 73014	Disease
563708	Syndromic congenital sodium diarrhea	104003, 363300, 73014	Disease
522037	Primary autoimmune enteropathy	73014, 94075	Disease
522043	Syndromic autoimmune enteropathy	363300, 73014, 94075	Clinical group
37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	101956, 169355, 183643, 522043	Disease
436159	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	169355, 522043, 664450	Disease
391487	STAT1-related autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	101956, 169355, 183643, 183710, 522043, 664450	Disease
169100	Immunodeficiency due to CD25 deficiency	169355, 522043	Disease
438159	STAT3-related early-onset multisystem autoimmune disease	169355, 182228, 280373, 522043, 664450, 71203, 98375	Disease
220465	Laron syndrome with immunodeficiency	181393, 331217, 522043	Disease
3453	Autoimmune polyendocrinopathy type 1	101960, 169355, 181405, 183643, 208593, 282196, 399853, 522043, 522548, 664450, 95709, 98641	Disease
445018	Syndromic autoimmune enteropathy due to LRBA deficiency	101956, 183643, 480549, 522043	Disease
94075	Severe immune-mediated enteropathy	117569	Category
572	Immunodeficiency by defective expression of MHC class II	480549, 94075	Disease
397959	TCR-alpha-beta-positive T-cell deficiency	480549, 94075	Disease
280142	Combined immunodeficiency due to LCK deficiency	317419, 94075	Disease
104003	Congenital intestinal transport defect	117569, 165655, 506216	Category
53689	Congenital chloride diarrhea	104003, 717851	Disease
104004	Intestinal disease due to vitamin absorption anomaly	117569, 165655	Category
104005	Intestinal disease due to fat malabsorption	117569	Category
104006	Congenital intestinal disease due to an enzymatic defect	117569, 165655	Category
168601	Congenital enteropathy due to enteropeptidase deficiency	104006	Disease
104007	Congenital enteropathy involving intestinal mucosa development	117569, 165655, 506216	Category
83620	Enteric anendocrinosis	104007	Disease
103910	Congenital enterocyte heparan sulfate deficiency	104007	Disease
104008	Short bowel syndrome	117569, 506216	Clinical group
95427	Secondary short bowel syndrome	104008	Disease
365563	Primary short bowel syndrome	104008, 165655	Clinical group
104009	Rare disease involving intestinal motility	117569, 165655, 506216	Category
388	Hirschsprung disease	104009	Disease
2604	Familial visceral myopathy	104009	Disease
2978	Chronic intestinal pseudoobstruction syndrome	104009	Clinical syndrome
99811	Neuronal intestinal pseudoobstruction	2978	Etiological subtype
104077	Myopathic intestinal pseudoobstruction	2978	Etiological subtype
104078	Unclassified intestinal pseudoobstruction	2978	Etiological subtype
314373	Chronic infantile diarrhea due to guanylate cyclase 2C overactivity	104009, 717865	Disease
314376	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency	104009	Disease
404463	Multisystemic smooth muscle dysfunction syndrome	101433, 104009, 156619, 183503, 275853, 285014, 519286, 522568, 71281	Disease
2151	Hirschsprung disease-ganglioneuroblastoma syndrome	104009, 519286, 522568	Malformation syndrome
104011	Rare tumor of intestine	117569, 506216, 98059	Category
423793	Rare tumor of small intestine	104011	Category
652658	Monomorphic epitheliotropic intestinal T-cell lymphoma	171918, 423793	Disease
86880	Enteropathy-associated T-cell lymphoma	171918, 423793	Disease
423798	Mesenchymal tumor of small intestine	423793	Category
44890	Gastrointestinal stromal tumor	271835, 423798	Disease
104076	Leiomyosarcoma of small intestine	423798	Disease
425368	Rare epithelial tumor of small intestine	423793	Category
423957	Rare carcinoma of small intestine	425368	Category
104075	Adenocarcinoma of the small intestine	423957	Disease
423968	Squamous cell carcinoma of the small intestine	423957	Disease
423975	Neuroendocrine tumor of the small intestine	425368, 481508	Category
100076	Duodenal neuroendocrine tumor	423975	Category
100077	Jejunal neuroendocrine tumor	423975	Category
100078	Ileal neuroendocrine tumor	423975	Disease
423982	Epithelial tumor of the appendix	104011	Category
100079	Neuroendocrine neoplasm of appendix	423982, 481508	Disease
329977	Classic neuroendocrine tumor of appendix	100079	Clinical subtype
329984	Goblet cell carcinoma	100079	Clinical subtype
391723	Mucinous adenocarcinoma of the appendix	423982	Disease
423991	Rare epithelial tumor of colon	104011	Category
100080	Neuroendocrine tumor of the colon	423991, 481508	Disease
423994	Squamous cell carcinoma of the colon	423991	Disease
423998	Rare epithelial tumor of rectum	104011	Category
100081	Neuroendocrine tumor of the rectum	423998, 481508	Disease
424002	Squamous cell carcinoma of the rectum	423998	Disease
424010	Epithelial tumor of anal canal	104011	Category
100082	Neuroendocrine tumor of anal canal	424010, 481508	Disease
424013	Carcinoma of the anal canal	424010	Clinical group
424016	Adenocarcinoma of the anal canal	424013	Disease
424019	Squamous cell carcinoma of the anal canal	424013	Disease
104012	Rare inflammatory bowel disease	117569, 506216	Category
717851	Rare non-syndromic inflammatory bowel disease	104012	Clinical group
468641	Chronic enteropathy associated with SLCO2A1 gene	165655, 717851	Disease
597201	TRIM22-related inflammatory bowel disease	165655, 717851	Disease
477661	IL21-related infantile inflammatory bowel disease	165655, 695164, 717851	Disease
597887	ALPI-related inflammatory bowel disease	165655, 717851	Disease
714410	CARD8-related inflammatory bowel disease	165655, 717851	Disease
714481	SCGN-related severe early-onset hereditary ulcerative colitis	165655, 717851	Disease
714484	AGR2-related infantile-onset inflammatory bowel disease	165655, 717851	Disease
714490	PERCC1-related congenital intractable malabsorptive diarrhea	165655, 717851	Disease
717862	Rare disorder with inflammatory bowel disease	104012	Category
717865	Rare congenital-chronic-intractable diarrhea with inflammatory bowel disease	717862	Category
714487	Congenital diarrhea-chronic gastrointestinal inflammation-ocular dysgenesis syndrome	717865	Disease
2881	Cutaneous photosensitivity-lethal colitis syndrome	717865	Disease
717757	Rare immune disease with inflammatory bowel disease	717862	Category
714423	Infantile-onset inflammatory bowel disease-hearing loss-recurrent infections syndrome	717757	Disease
714496	Immunodeficiency-congenital thrombocytopenia-hypereosinophilia-colitis-vasculitis syndrome	717757	Disease
714477	Early-onset inflammatory bowel disease-ulcerative skin lesions-immunodeficiency syndrome	717757	Disease
714493	Congenital thrombocytopenia-recurrent infections syndrome due to WIP deficiency	717757	Disease
714472	Inflammatory bowel disease-autoimmunity-sinopulmonary infections-lymphadenopathy syndrome	717757	Disease
717868	Rare skin disease with inflammatory bowel disease	717862	Category
717871	Rare systemic or rheumatologic diseases with inflammatory bowel disease	717862	Category
717874	Rare inborn error of metabolism with inflammatory bowel disease	717862	Category
717877	Rare miscellaneous disease with inflammatory bowel disease	717862	Category
104013	Metabolic disease with intestinal involvement	117569, 165655	Category
371188	Congenital disorder of glycosylation with intestinal involvement	104013	Category
209964	Solitary rectal ulcer syndrome	117569	Disease
294422	Chronic intestinal failure	117569, 506216	Clinical syndrome
397606	PrP systemic amyloidosis	117569, 140474, 280400	Disease
398063	Refractory celiac disease	117569	Disease
436166	Periodic fever-infantile enterocolitis-autoinflammatory syndrome	117569, 290842, 324924, 622720	Disease
565641	Primary desmosis coli	117569	Disease
583861	Isolated mesenteric vein thrombosis	117569	Disease
622099	Superior mesenteric artery syndrome	117569, 165711	Disease
645793	Spontaneous intestinal perforation	117569, 165711	Disease
160148	Cap polyposis	117569	Disease
217067	Pouchitis	117569	Particular clinical situation in a disease or syndrome
228113	Anal fistula	117569, 165711	Particular clinical situation in a disease or syndrome
238621	Ileal pouch anal anastomosis related faecal incontinence	117569	Particular clinical situation in a disease or syndrome
468635	Cryptogenic multifocal ulcerous stenosing enteritis	117569, 165655, 506216	Disease
477787	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	117569, 165655, 275736	Disease
3130	Satoyoshi syndrome	117569, 182228, 79364, 95710	Disease
391673	Necrotizing enterocolitis	117569	Disease
263665	NK-cell enteropathy	97935	Disease
276142	Rare tumor of salivary glands	290849, 97935, 98059	Category
276145	Malignant epithelial tumor of salivary glands	276142	Disease
276148	Benign epithelial tumor of salivary glands	276142	Disease
300557	Carcinoma of the ampulla of Vater	97935, 98059	Disease
402029	Primary eosinophilic gastrointestinal disease	97935	Clinical group
402035	Eosinophilic colitis	402029	Disease
425003	Inherited digestive cancer-predisposing syndrome	140162, 97935	Category
99361	Isolated familial medullary thyroid carcinoma	100088, 425003	Disease
652	Multiple endocrine neoplasia type 1	100091, 2207, 276161, 314749, 425003	Disease
653	Multiple endocrine neoplasia type 2	100088, 276161, 425003	Disease
247698	Multiple endocrine neoplasia type 2A	100091, 653	Clinical subtype
247709	Multiple endocrine neoplasia type 2B	100091, 653	Clinical subtype
104010	Intestinal polyposis syndrome	425003, 506216	Clinical group
247798	MUTYH-related polyposis	104010	Disease
447877	Polymerase proofreading-related polyposis	104010	Disease
454840	NTHL1-related polyposis	104010	Disease
480536	MSH3-related polyposis	104010	Disease
733	Familial adenomatous polyposis	104010, 271835, 363314, 716393	Disease
2929	Juvenile polyposis syndrome	104010, 363314	Disease
329971	Generalized juvenile polyposis/juvenile polyposis coli	2929	Clinical subtype
157794	Hereditary mixed polyposis syndrome	104010, 363314	Disease
157798	Serrated polyposis syndrome	104010, 363314	Disease
220460	Attenuated familial adenomatous polyposis	104010, 271835, 363314	Disease
443909	Hereditary nonpolyposis colon cancer	271835, 425003, 589746	Clinical group
144	Lynch syndrome	443909	Disease
440437	Familial colorectal cancer Type X	443909	Disease
456333	Hereditary neuroendocrine tumor of small intestine	425003	Disease
583856	Isolated splenic vein thrombosis	97935	Disease
645859	Primary tuberculosis of the digestive system	3389, 97935	Disease
696175	Encapsulating peritoneal sclerosis	165711, 97935	Disease
98053	Rare genetic disease		Category
536391	RASopathy	98053	Category
634511	Mosaic Legius syndrome	183466, 536391, 79375	Disease
137605	Legius syndrome	183466, 536391, 611314, 79375	Malformation syndrome
447874	Biological anomaly without phenotypic characterization	98053	Category
168612	Congenital deficiency in alpha-fetoprotein	447874	Biological anomaly
168615	Hereditary persistence of alpha-fetoprotein	447874	Biological anomaly
254704	Genetic hyperferritinemia without iron overload	447874	Biological anomaly
641343	Imprinting disorders	98053	Clinical group
99886	Transient neonatal diabetes mellitus	224, 641343	Disease
68336	Rare genetic tumor	98053	Category
183487	Genetic skin tumor or hamartoma	68336, 68346	Category
2396	Encephalocraniocutaneous lipomatosis	183484, 183487, 79382	Disease
840	Syringocystadenoma papilliferum	183487, 79386	Disease
3110	Rombo syndrome	183487, 79386	Disease
2591	Infantile myofibromatosis	183487, 206982, 271832, 71209, 79386	Disease
618	Familial melanoma	183487, 79386	Disease
122	Birt-Hogg-Dubé syndrome	156610, 183487, 264740, 319328, 363250, 79386	Malformation syndrome
493	Familial keratoacanthoma	183487, 79386	Disease
523	Hereditary leiomyomatosis and renal cell cancer	183487, 319328, 589746, 79386	Disease
31112	Dermatofibrosarcoma protuberans	183487, 271832, 3394, 79386	Disease
65748	Multiple self-healing squamous epithelioma	183487, 79386	Disease
79493	Brooke-Spiegler syndrome	183487, 79386	Disease
211	Familial cylindromatosis	79493	Clinical subtype
867	Familial multiple trichoepithelioma	79493	Clinical subtype
168632	Generalized basaloid follicular hamartoma syndrome	183487, 79386	Disease
404560	Familial atypical multiple mole melanoma syndrome	140162, 183487, 79386	Disease
622914	Rare genetic nevus	183487	Category
35125	Epidermal nevus syndrome	294057, 522548, 622914, 98641	Disease
497737	Epidermolytic nevus	281103, 294057, 622914	Disease
497757	MME-related autosomal dominant Charcot Marie Tooth disease type 2	294057, 622914, 64746	Disease
626	Large/giant congenital melanocytic nevus	294057, 622914	Disease
64754	Nevus comedonicus syndrome	294057, 622914	Disease
166286	Porokeratotic eccrine ostial and dermal duct nevus	294057, 622914	Disease
171723	White sponge nevus	294057, 622914	Disease
313936	PENS syndrome	294057, 622914	Disease
538756	Familial multiple discoid fibromas	183487, 79386	Disease
183527	Genetic bone tumor	68336	Category
178	Chordoma	100101, 183527, 271847, 68411, 95503	Disease
435329	Familial ossifying fibroma	183527, 68411	Disease
183595	Genetic renal tumor	68336	Category
654	Nephroblastoma	183595, 506213, 93619	Disease
457246	Clear cell sarcoma of kidney	183595, 506213, 93619	Disease
183619	Genetic eye tumor	101435, 68336	Category
357027	Hereditary retinoblastoma	140162, 183619, 790	Clinical subtype
91481	Ring dermoid of cornea	101950, 183619	Disease
183734	Genetic gynecological tumor	68336	Category
227535	Hereditary breast cancer	180257, 183734, 626609	Disease
271832	Genetic soft tissue tumor	68336	Category
271835	Genetic digestive tract tumor	68336	Category
271841	Genetic cardiac tumor	68336	Category
271844	Genetic urogenital tumor	68336	Category
1331	Familial prostate cancer	156619, 271844, 98058	Disease
271847	Genetic neuroendocrine tumor	68336	Category
404	Familial hyperaldosteronism type II	100091, 235936, 271847	Disease
29072	Hereditary pheochromocytoma-paraganglioma	183637, 271847, 573163	Disease
100094	Multiple polyglandular tumor	101956, 182130, 183643, 271847	Category
97286	Carney-Stratakis syndrome	100094	Disease
139411	Carney triad	100094	Disease
276161	Multiple endocrine neoplasia	100094	Clinical group
276152	Multiple endocrine neoplasia type 4	276161	Disease
319494	Familial nonmedullary thyroid carcinoma	100088, 271847	Clinical group
97290	Familial papillary thyroid carcinoma with renal papillary neoplasia	319328, 319494	Disease
319487	Familial papillary or follicular thyroid carcinoma	319494	Disease
324299	Multiple paragangliomas associated with polycythemia	183637, 250165, 271847, 573163, 98427	Disease
322126	Genetic tumor of hematopoietic and lymphoid tissues	68336	Category
319465	Inherited acute myeloid leukemia	322126, 519, 619340	Disease
319480	Acute myeloid leukemia with CEBPA somatic mutations	322126, 98277	Disease
68346	Rare genetic skin disease	98053	Category
622720	Genetic autoinflammatory syndrome with skin involvement	68346	Category
617919	F12-associated cold autoinflammatory syndrome	290842, 324924, 622720	Disease
32960	Tumor necrosis factor receptor 1 associated periodic syndrome	290839, 290842, 324924, 622720	Disease
90340	Blau syndrome	264714, 280926, 280933, 290839, 290842, 324930, 324950, 477808, 522548, 619238, 622720, 79381, 98641	Disease
208650	NLRP3-associated autoinflammatory disease	290839, 290842, 324924, 622720	Clinical group
575	Muckle-Wells syndrome	208650, 567556	Disease
47045	Familial cold urticaria	208650	Disease
647815	Keratitis fugax hereditaria	208650, 519329	Disease
247868	NLRP12-associated hereditary periodic fever syndrome	290842, 324924, 622720	Disease
294023	Neonatal erythroderma-autoinflammation-inflammatory bowel disease syndrome	165655, 290839, 290842, 324927, 324942, 611314, 619238, 622720, 79359, 79360	Disease
324977	Proteasome-associated autoinflammatory syndrome	290842, 477647, 481671, 622720, 98305	Disease
404546	DITRA	290839, 290842, 324927, 324942, 619238, 622720	Disease
425120	STING-associated vasculopathy with onset in infancy	101944, 156146, 156610, 233655, 280369, 290842, 477647, 481671, 622720	Disease
576349	NLRC4-related familial cold autoinflammatory syndrome	290842, 324924, 622720	Disease
619367	SAMD9L-associated autoinflammatory syndrome	264699, 290839, 290842, 477647, 481671, 622720	Disease
3243	Sweet syndrome	290842, 319719, 324927, 619238, 622720	Disease
619363	NOCARH syndrome	290842, 324936, 619238, 622720, 664482	Disease
674762	Early-onset autoinflammatory syndrome due to A20 haploinsufficiency	290839, 290842, 324936, 324953, 619238, 622720	Disease
652510	Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa	619238, 622720	Clinical group
641380	PAPASH syndrome	652510, 653434	Disease
69126	PAPA syndrome	324942, 652510, 653434	Disease
289478	PASH syndrome	652510, 653434	Disease
79385	Unclassified genetic skin disorder	68346, 89826	Category
1954	Congenital lethal erythroderma	79385	Disease
2505	Multiple benign circumferential skin creases on limbs	611314, 79385	Disease
2812	Parana hard skin syndrome	79385	Disease
2833	Stiff skin syndrome	79385	Disease
231031	Erythema palmare hereditarium	79385	Disease
79387	Metabolic disease with skin involvement	68346, 89826	Category
79388	Mucopolysaccharidosis with skin involvement	79387	Category
371200	Congenital disorder of glycosylation with skin involvement	79387	Category
79389	Premature aging	68346, 89826	Category
2047	Flynn-Aird syndrome	522548, 71859, 79389, 98006, 98641	Disease
2500	Acrogeria	611314, 79389	Malformation syndrome
183426	Genetic epidermal disorder	68346	Category
2841	Hailey-Hailey disease	183426, 79359	Disease
79357	Hereditary palmoplantar keratoderma	183426, 79353	Category
307141	Diffuse palmoplantar keratoderma	79357	Category
307148	Isolated diffuse palmoplantar keratoderma	307141	Clinical group
98349	Autosomal dominant isolated diffuse palmoplantar keratoderma	307148	Category
495	Transgrediens et progrediens palmoplantar keratoderma	98349	Disease
2199	Epidermolytic palmoplantar keratoderma	98349	Disease
2337	Diffuse palmoplantar keratoderma, Bothnian type	98349	Disease
369999	Diffuse palmoplantar keratoderma with painful fissures	98349	Disease
530838	KRT1-related diffuse nonepidermolytic keratoderma	98349	Disease
98356	Autosomal recessive isolated diffuse palmoplantar keratoderma	307148	Category
87503	Mal de Meleda	98356	Disease
140966	Palmoplantar keratoderma, Nagashima type	250811, 98356	Disease
307711	Disease with diffuse palmoplantar keratoderma as a major feature	307141	Category
98352	Autosomal dominant disease with diffuse palmoplantar keratoderma as a major feature	307711	Category
316	Progressive symmetric erythrokeratodermia	308166, 98352	Disease
384	Huriez syndrome	98352	Disease
86918	Diffuse palmoplantar keratoderma-acrocyanosis syndrome	98352	Disease
86919	Keratosis palmaris et plantaris-clinodactyly syndrome	98352	Disease
307773	Autosomal dominant diffuse mutilating palmoplantar keratoderma	98352	Clinical group
659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	307773	Disease
79395	Keratoderma hereditarium mutilans with ichthyosis	281082, 307773	Disease
281201	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	281082, 307773	Disease
352662	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	522562, 98352, 98625	Disease
538574	Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome	140456, 98352	Disease
307804	Autosomal recessive disease with diffuse palmoplantar keratoderma as a major feature	307711	Category
363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	307804, 611314, 98027	Disease
66631	CEDNIK syndrome	281241, 307804, 611314	Disease
307837	Focal palmoplantar keratoderma	79357	Category
307846	Isolated focal palmoplantar keratoderma	307837	Clinical group
50942	Striate palmoplantar keratoderma	307846	Disease
79141	Hereditary painful callosities	307846	Disease
370002	Focal palmoplantar keratoderma with joint keratoses	307846	Disease
402003	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering	307846	Disease
448264	Isolated focal non-epidermolytic palmoplantar keratoderma	307846	Disease
307871	Disease with focal palmoplantar keratoderma as a major feature	307837	Category
98353	Autosomal dominant disease associated with focal palmoplantar keratoderma as a major feature	307871	Category
2200	Focal palmoplantar and gingival keratoderma	98353	Disease
98357	Autosomal recessive disease with focal palmoplantar keratoderma as a major feature	307871	Category
420686	Woolly hair-palmoplantar keratoderma syndrome	434809, 98357	Disease
307967	Punctate palmoplantar keratoderma	79357	Category
2338	Isolated punctate palmoplantar keratoderma	307967	Clinical group
737	Porokeratosis plantaris palmaris et disseminata	183444, 2338, 79358	Disease
79501	Punctate palmoplantar keratoderma type 1	2338	Disease
79502	Punctate palmoplantar keratoderma type 2	2338	Disease
307995	Marginal papular palmoplantar keratoderma	2338	Clinical group
38	Acrokeratoelastoidosis of Costa	183441, 228224, 307995, 79356	Disease
308013	Focal acral hyperkeratosis	307995	Disease
444138	Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome	2338, 281082	Disease
308023	Disease with punctate palmoplantar keratoderma as a major feature	307967	Category
308031	Autosomal dominant disease associated with punctate palmoplantar keratoderma as a major feature	308023	Category
1336	Hyperkeratosis-hyperpigmentation syndrome	183466, 308031, 79375	Disease
2201	Palmoplantar keratoderma-spastic paralysis syndrome	308031	Disease
324561	Hypopigmentation-punctate palmoplantar keratoderma syndrome	308031	Disease
308041	Autosomal recessive disease associated with punctate palmoplantar keratoderma as a major feature	308023	Category
2386	Leukoencephalopathy-palmoplantar keratoderma syndrome	308041	Disease
79360	Other genetic epidermal disease	183426	Category
482606	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome	441434, 79359, 79360	Malformation syndrome
158687	Lethal acantholytic erosive disorder	79359, 79360	Disease
218	Darier disease	79359, 79360	Disease
1658	Absence of fingerprints-congenital milia syndrome	79359, 79360	Disease
1867	Hereditary bullous dystrophy, macular type	611314, 79359, 79360	Disease
2388	Choreoacanthocytosis	207018, 225713, 263440, 68385, 79359, 79360	Disease
409	Hyperkeratosis lenticularis perstans	79359, 79360	Disease
498	Keratosis pilaris atrophicans	79359, 79360	Clinical group
2340	Keratosis follicularis spinulosa decalvans	498	Disease
3406	Ulerythema ophryogenesis	498	Disease
79100	Atrophoderma vermiculata	498	Disease
50943	Keratolytic winter erythema	79359, 79360	Disease
90301	Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome	181368, 79359, 79360	Disease
247353	Generalized pustular psoriasis	79359, 79360	Disease
369992	Severe dermatitis-multiple allergies-metabolic wasting syndrome	79359, 79360, 98050	Disease
163927	Pustulosis palmaris et plantaris	79359, 79360	Disease
163931	Acrodermatitis continua of Hallopeau	79359, 79360	Disease
79361	Inherited epidermolysis bullosa	183426, 79353	Category
304	Epidermolysis bullosa simplex	79361	Clinical group
595346	Epidermolysis bullosa simplex without extracutaneous involvement	304	Category
412181	Epidermolysis bullosa simplex due to BP230 deficiency	595346	Disease
412189	Epidermolysis bullosa simplex due to exophilin 5 deficiency	595346	Disease
79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	595346	Disease
79397	Epidermolysis bullosa simplex with mottled pigmentation	595346	Disease
79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	595346	Disease
79400	Localized epidermolysis bullosa simplex	595346	Disease
79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	595346	Disease
89838	Autosomal recessive generalized epidermolysis bullosa simplex	595346	Disease
158681	Epidermolysis bullosa simplex with circinate migratory erythema	595346	Disease
595351	Epidermolysis bullosa simplex with extracutaneous involvement	304	Category
508529	Intermediate epidermolysis bullosa simplex with cardiomyopathy	595351	Disease
158684	Epidermolysis bullosa simplex with pyloric atresia	595351	Disease
2908	Kindler epidermolysis bullosa	183490, 79361, 79390	Disease
168606	Seborrhea-like dermatitis with psoriasiform elements	183426, 79359	Disease
183435	Inherited ichthyosis	183426, 79354	Category
281082	Inherited non-syndromic ichthyosis	183435	Category
461	Recessive X-linked ichthyosis	281082, 98628	Disease
317	Erythrokeratodermia variabilis	281082, 308166, 522548, 98641	Disease
817	Peeling skin syndrome	281082	Clinical group
263534	Acral peeling skin syndrome	817	Disease
263543	Generalized peeling skin syndrome	817	Disease
263553	Peeling skin syndrome type B	263543	Clinical subtype
263548	Peeling skin syndrome type A	263543	Clinical subtype
281103	Keratinopathic ichthyosis	281082	Clinical group
281190	Congenital reticular ichthyosiform erythroderma	281103	Disease
312	Autosomal dominant epidermolytic ichthyosis	281103	Disease
455	Superficial epidermolytic ichthyosis	281103	Disease
79503	Ichthyosis hystrix of Curth-Macklin	281103	Disease
281139	Annular epidermolytic ichthyosis	281103	Disease
512103	Autosomal recessive epidermolytic ichthyosis	281103	Disease
281085	Inherited ichthyosis syndromic form	183435	Category
281210	X-linked ichthyosis syndrome	281085	Clinical group
281090	Syndromic recessive X-linked ichthyosis	281210	Disease
281217	Autosomal ichthyosis syndrome	281085	Category
281222	Autosomal ichthyosis syndrome with prominent hair abnormalities	281217	Category
634	Netherton syndrome	281222, 331223	Disease
59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	156607, 281222, 447771	Disease
91132	Ichthyosis-hypotrichosis syndrome	281222, 481771, 79364	Disease
281238	Autosomal ichthyosis syndrome with prominent neurologic signs	281217	Category
2271	Congenital ichthyosis-microcephalus-tetraplegia syndrome	281238	Disease
281241	Autosomal ichthyosis syndrome with fatal disease course	281217	Category
281244	Autosomal ichthyosis syndrome with other associated signs	281217	Category
3151	Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome	281244, 68334	Disease
2274	Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome	183518, 281244	Disease
88621	Ichthyosis-prematurity syndrome	281244	Disease
183438	Genetic erythrokeratoderma	183426	Category
2897	Pityriasis rubra pilaris	183438, 79355	Disease
1955	Spinocerebellar ataxia type 34	183438, 79355, 94145	Disease
315	Erythrokeratoderma ''en cocardes''	183438, 79355	Disease
308166	Erythrokeratoderma variabilis progressiva	183438, 79355	Clinical group
183441	Genetic acrokeratoderma	183426	Category
79151	Acrokeratosis verruciformis of Hopf	183441, 79356	Disease
99710	Punctate acrokeratoderma freckle-like pigmentation	183441, 79356	Disease
183444	Genetic porokeratosis	183426	Category
735	Porokeratosis of Mibelli	183444, 79358	Disease
79152	Disseminated superficial actinic porokeratosis	183444, 79358	Disease
222628	Hereditary poikiloderma	183426, 79353	Category
221039	Hereditary sclerosing poikiloderma, Weary type	222628	Disease
221043	Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome	206656, 222628, 264740, 264992	Disease
221046	Poikiloderma with neutropenia	222628, 331184	Disease
2907	Hereditary acrokeratotic poikiloderma	222628	Disease
183447	Genetic epidermal appendage anomaly	68346	Category
183450	Genetic hair anomaly	183447	Category
481771	Genetic alopecia	183450	Category
1008	Alopecia-epilepsy-pyorrhea-intellectual disability syndrome	481771, 611314, 79364	Disease
701	Alopecia universalis	481771, 79364	Disease
2850	Alopecia-intellectual disability syndrome	481771, 611314, 79364	Disease
168	Loose anagen syndrome	481771, 79364	Disease
444	Marie Unna hereditary hypotrichosis	481771, 79364	Disease
55654	Hypotrichosis simplex	481771, 79364	Disease
86819	Atrichia with papular lesions	481771, 79364	Disease
90368	Hypotrichosis simplex of the scalp	481771, 79364	Disease
157954	ANE syndrome	181387, 481771, 611314, 79364, 95495	Disease
217407	Hereditary hypotrichosis with recurrent skin vesicles	481771, 79364	Disease
79365	Rare disorder with hypertrichosis	183450, 79363	Category
1021	Amaurosis-hypertrichosis syndrome	716405, 79365	Disease
769	Rabson-Mendenhall syndrome	181368, 79365	Malformation syndrome
3387	Isolated anterior cervical hypertrichosis	79365	Disease
79366	Isolated hair shaft abnormality	183450, 79363	Category
1410	Uncombable hair syndrome	79366	Disease
2889	Pili torti	79366	Disease
169	Ringed hair disease	79366	Disease
170	Woolly hair	79366	Disease
573	Monilethrix	79366	Disease
720	Pili bifurcati	79366	Disease
79414	Woolly hair nevus	79366	Disease
79492	Pili gemini	79366	Disease
79367	Syndromic hair shaft abnormality	183450, 79363	Category
2891	Pili torti-developmental delay-neurological abnormalities syndrome	79367	Malformation syndrome
3361	Trichodysplasia-xeroderma syndrome	79367	Malformation syndrome
434809	Syndrome with woolly hair	79367	Category
411788	Familial isolated trichomegaly	183450, 79363	Disease
183454	Genetic nail anomaly	183447	Category
79369	Isolated nail anomaly	183454, 79368	Category
2387	Leukonychia totalis	79369	Disease
79153	Idiopathic trachyonychia	79369	Disease
217059	Isolated nail clubbing	79369	Morphological anomaly
280654	Autosomal recessive nail dysplasia	79369	Disease
79370	Syndromic nail anomaly	183454, 79368	Category
2045	FLOTCH syndrome	79370	Disease
210133	Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome	79370, 79375	Disease
183460	Genetic sebaceous gland anomaly	183447	Category
841	Sebocystomatosis	183460, 79372	Disease
542657	Isolated hyperchlorhidrosis	183447, 79362	Disease
183463	Genetic pigmentation anomaly of the skin	68346	Category
2435	Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome	183463, 611314, 79374	Disease
183466	Genetic hyperpigmentation of the skin	183463	Category
2678	Familial isolated café-au-lait macules	183466, 79375	Malformation syndrome
41	Dyschromatosis symmetrica hereditaria	183466, 79375	Disease
241	Dyschromatosis universalis hereditaria	183466, 79375	Disease
79146	Familial progressive hyperpigmentation	183466, 79375	Disease
79150	Linear and whorled nevoid hypermelanosis	183466, 79375	Disease
85453	X-linked reticulate pigmentary disorder	183466, 290839, 477647, 481671, 79375, 98628	Disease
178307	Reticulate acropigmentation of Kitamura	183466, 79375	Disease
231040	Familial generalized lentiginosis	183466, 79375	Disease
508512	Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome	183466, 79375	Disease
183469	Genetic hypopigmentation of the skin	183463	Category
2884	Piebaldism	183469, 79376	Disease
2885	Piebald trait-neurologic defects syndrome	183469, 611314, 79376	Malformation syndrome
284811	Syndromic oculocutaneous albinism	183469, 79376, 98706	Category
381	Griscelli syndrome	284811, 611314	Disease
79476	Griscelli syndrome type 1	102005, 381	Clinical subtype
79477	Griscelli syndrome type 2	183494, 331249, 381, 79391	Clinical subtype
79478	Griscelli syndrome type 3	381	Clinical subtype
280628	Familial progressive hyper- and hypopigmentation	183463, 79374	Disease
183472	Genetic dermis disorder	68346	Category
183478	Genetic skin vascular disorder	183472	Category
481662	Familial Chilblain lupus	163531, 182228, 183478, 477647, 477771, 481671, 79379	Disease
656071	Atrophic papulosis	183478, 79379	Disease
656085	Benign atrophic papulosis	656071	Clinical subtype
679	Malignant atrophic papulosis	182222, 271870, 656071	Clinical subtype
90280	Chilblain lupus	163531, 183478, 79379	Disease
313846	Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	140162, 183478, 79379	Disease
183481	Genetic mixed dermis disorder	183472	Category
228215	Genetic dermis elastic tissue disorder	183472, 79378	Category
53296	Familial cutaneous collagenoma	228215	Disease
79147	Familial reactive perforating collagenosis	228215	Disease
91135	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	228215	Disease
228277	Familial anetoderma	228215	Disease
436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	228215, 716405	Disease
1659	Dermatoleukodystrophy	228215, 68356	Disease
477808	Other genetic dermis disorder	183472	Category
1764	Familial dysautonomia	140477, 182058, 448426, 477808, 519286, 522568, 79381, 98604	Disease
2987	Antecubital pterygium syndrome	477808, 79381	Malformation syndrome
79149	Dermochondrocorneal dystrophy	477808, 79381, 98628	Disease
140933	Linear atrophoderma of Moulin	477808, 79381	Disease
353220	Familial primary localized cutaneous amyloidosis	137807, 477808	Disease
357225	Primary non-essential cutis verticis gyrata	477808, 611314, 671	Disease
468666	Isolated generalized anhidrosis with normal sweat glands	183484, 477808, 79381, 79382	Disease
183484	Genetic subcutaneous tissue disorder	68346	Category
2398	Multiple symmetric lipomatosis	183484, 79382	Disease
529	Roch-Leri mesosomatous lipomatosis	183484, 79382	Disease
98305	Genetic lipodystrophy	156638, 183484, 90970	Category
1979	Lipodystrophy due to peptidic growth factors deficiency	98305	Disease
98306	Familial partial lipodystrophy	98305	Clinical group
79083	PPARG-related familial partial lipodystrophy	98306	Disease
79084	Familial partial lipodystrophy, Köbberling type	300763, 98306	Disease
79085	AKT2-related familial partial lipodystrophy	98306	Disease
280356	PLIN1-related familial partial lipodystrophy	181368, 98306	Disease
280365	Autosomal semi-dominant severe lipodystrophic laminopathy	181368, 300763, 98306	Disease
435651	CIDEC-related familial partial lipodystrophy	98306	Disease
435660	LIPE-related familial partial lipodystrophy	98306	Disease
363400	Progressive encephalopathy-severe neurodegeneration-lipodystrophy syndrome	182070, 183500, 98305	Disease
686999	Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome	140459, 611314, 98305	Disease
199276	Familial multiple lipomatosis	183484, 79382	Disease
199279	Familial angiolipomatosis	183484, 79382	Disease
183490	Genetic photodermatosis	68346	Category
178338	UV-sensitive syndrome	183490, 79390	Disease
183494	Genetic immune deficiency with skin involvement	68346	Category
906	Wiskott-Aldrich syndrome	183422, 183494, 331217, 506219, 79391, 98456	Disease
379	Chronic granulomatous disease	183494, 264714, 280926, 280930, 280933, 522504, 674896, 79391	Disease
1334	Chronic mucocutaneous candidiasis	183494, 183710, 79391	Disease
2314	Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency	183494, 331223, 79391	Disease
1839	Hereditary mucoepithelial dysplasia	183494, 522548, 79391, 98641	Malformation syndrome
302	Inherited epidermodysplasia verruciformis	140162, 183494, 183710, 79391	Disease
314	Erythroderma desquamativum	183494, 79391	Disease
157949	Combined immunodeficiency with granulomatosis	183494, 480549, 79391	Disease
51636	WHIM syndrome	183494, 183710, 79391	Disease
641368	Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency	183494, 331223, 79391	Disease
656912	Autosomal dominant combined immunodeficiency due to ERBIN deficiency	183494, 331223, 79391	Disease
656300	Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency	183494, 331223, 79391	Disease
656326	Autosomal recessive combined immunodeficiency due to IL6R deficiency	183494, 331223, 79391	Disease
658946	Early-onset immune dysregulation with autoimmunity due to DOCK11 partial deficiency	169355, 183494, 324933, 79391	Disease
596759	Combined immunodeficiency due to RELA haploinsufficiency	183494, 324936, 480549, 79391	Disease
182734	Genetic urticaria	68346	Clinical group
493342	Vibratory urticaria	182734, 79384	Disease
71859	Rare genetic neurological disorder	98053	Category
98743	Genetic neurological channelopathy of the central nervous system	71859	Category
98744	Neurological channelopathy of the central nervous system due to a genetic sodium channel defect	98743	Category
36387	Genetic epilepsy with febrile seizure plus	309, 611314, 693802, 98744, 98749	Disease
681	Hypokalemic periodic paralysis	206976, 371433, 98738, 98740, 98741, 98744	Disease
293181	Epilepsy of infancy with migrating focal seizures	182083, 693802, 98744	Disease
2382	Lennox-Gastaut syndrome	611314, 98259, 98744, 98749	Disease
569	Familial or sporadic hemiplegic migraine	183503, 183509, 71281, 98022, 98744, 98745	Disease
442835	Non-specific early-onset epileptic encephalopathy	166472, 611314, 98744, 98745, 98746, 98749	Disease
1934	Early infantile developmental and epileptic encephalopathy	182079, 182083, 611314, 693802, 98744, 98746	Clinical syndrome
33069	Dravet syndrome	182083, 611314, 693802, 98744, 98749	Disease
306	Self-limited infantile epilepsy	166475, 693802, 98744, 98746	Disease
140927	Self-limited neonatal-infantile epilepsy	166475, 693802, 98744, 98746	Disease
98745	Neurological channelopathy of the central nervous system due to a genetic calcium channel defect	98743	Category
64280	Childhood absence epilepsy	98259, 98745, 98749	Disease
458803	Spinocerebellar ataxia type 42	94148, 98745	Disease
97	Familial paroxysmal ataxia	211062, 98745	Disease
98758	Spinocerebellar ataxia type 6	94148, 98745	Disease
98746	Neurological channelopathy of the central nervous system due to a genetic potassium channel defect	98743	Category
166108	Birk-Barel syndrome	611314, 98746	Disease
435438	Progressive myoclonic epilepsy type 7	98261, 98746	Disease
98809	Paroxysmal kinesigenic dyskinesia	1431, 98746	Disease
98768	Spinocerebellar ataxia type 13	94145, 98746	Disease
439218	KCNQ2-related developmental and epileptic encephalopathy	611314, 693802, 98746	Disease
98784	Sleep-related hypermotor epilepsy	699645, 98746, 98748	Disease
1949	Self-limited neonatal epilepsy	693802, 98746	Disease
98772	Spinocerebellar ataxia type 19/22	94145, 98746	Disease
37612	Episodic ataxia type 1	166472, 211062, 98746	Disease
79137	Generalized epilepsy-paroxysmal dyskinesia syndrome	309, 98746	Disease
98747	Neurological channelopathy of the central nervous system due to a genetic glycine receptor defect	98743	Category
98748	Neurological channelopathy of the central nervous system due to a genetic acetylcholine receptor defect	98743	Category
98749	Neurological channelopathy of the central nervous system due to a genetic GABA receptor defect	98743	Category
307	Juvenile myoclonic epilepsy	306759, 699645, 98749	Disease
1945	Self-limited epilepsy with centrotemporal spikes	98259, 98749	Disease
538238	Neurological channelopathy of the central nervous system due to a genetic chloride channel defect	98743	Category
363540	Leukoencephalopathy with mild cerebellar ataxia and white matter edema	538238, 68356	Disease
485350	CLCN4-related X-linked intellectual disability syndrome	538238, 611314	Disease
68356	Leukodystrophy	71859, 98006	Category
495844	C11ORF73-related autosomal recessive hypomyelinating leukodystrophy	441434, 68356	Disease
466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	611314, 68356	Disease
58	Alexander disease	182070, 183500, 68356	Disease
363717	Alexander disease type I	58	Clinical subtype
363722	Alexander disease type II	519343, 522508, 58	Clinical subtype
702	Pelizaeus-Merzbacher disease	182070, 183500, 441434, 519341, 522506, 611314, 68356	Disease
280210	Pelizaeus-Merzbacher disease, connatal form	702	Clinical subtype
280219	Pelizaeus-Merzbacher disease, classic form	702	Clinical subtype
280224	Pelizaeus-Merzbacher disease, transitional form	702	Clinical subtype
280229	Pelizaeus-Merzbacher disease in female carriers	702	Clinical subtype
280234	Null syndrome	702	Clinical subtype
51	Aicardi-Goutières syndrome	477647, 477771, 481671, 611314, 68356	Disease
135	CACH syndrome	68356	Disease
99853	Ovarioleukodystrophy	135	Clinical subtype
99854	Cree leukoencephalopathy	135	Clinical subtype
157713	Congenital or early infantile CACH syndrome	135	Clinical subtype
157716	Late infantile CACH syndrome	135	Clinical subtype
157719	Juvenile or adult CACH syndrome	135	Clinical subtype
2478	Megalencephalic leukoencephalopathy with subcortical cysts	68356	Disease
85136	Cystic leukoencephalopathy without megalencephaly	68356	Disease
85163	Hypomyelination-congenital cataract syndrome	522548, 611314, 68356, 98641	Malformation syndrome
99015	Spastic paraplegia type 2	320350, 441434, 68356	Disease
99852	Ravine syndrome	68356	Disease
139441	Hypomyelination with atrophy of basal ganglia and cerebellum	68356	Disease
139444	Leukoencephalopathy with bilateral anterior temporal lobe cysts	68356	Disease
139447	Progressive cavitating leukoencephalopathy	68356	Disease
280270	Pelizaeus-Merzbacher-like disease	68356	Disease
280282	Pelizaeus-Merzbacher-like disease due to GJC2 mutation	280270	Clinical subtype
280288	Pelizaeus-Merzbacher-like disease due to HSPD1 mutation	280270	Clinical subtype
280293	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	280270	Clinical subtype
289494	4H leukodystrophy	68356	Disease
77295	Odontoleukodystrophy	289494	Clinical subtype
88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	181387, 289494, 611314	Clinical subtype
137639	Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome	289494	Clinical subtype
447896	Tremor-ataxia-central hypomyelination syndrome	183518, 289494, 441434	Clinical subtype
313808	Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia	276058, 68356, 98534	Disease
363412	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	68356	Disease
438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	611314, 68356	Disease
502444	Alkaline ceramidase 3 deficiency	68356, 68385	Disease
527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	316240, 611314, 68356	Disease
599376	Hypomyelination of early myelinating structures	183518, 611314, 68356	Disease
662229	Episodic memory defect leukoencephalopathy	68356	Disease
68385	Neurometabolic disease	71859, 98006	Category
385	Neurodegeneration with brain iron accumulation	276058, 306695, 307058, 68385, 98534	Clinical group
3464	Woodhouse-Sakati syndrome	181381, 181387, 181441, 183625, 370106, 385, 611314	Disease
289560	Mitochondrial membrane protein-associated neurodegeneration	385, 441434	Disease
306674	Kufor-Rakeb syndrome	385, 514980, 98687	Disease
329284	Beta-propeller protein-associated neurodegeneration	385, 611314	Disease
397725	COASY protein-associated neurodegeneration	385, 611314	Disease
496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	140468, 385, 611314, 98098	Disease
371047	Congenital disorder of glycosylation with neurological involvement	68385	Category
565899	POMGNT2-related limb-girdle muscular dystrophy R24	102015, 207113, 371047, 611314	Disease
263516	Progressive myoclonic epilepsy type 3	371047, 611314, 98261	Disease
371071	Congenital disorder of glycosylation with epilepsy as a major feature	166481, 371047	Category
280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	102015, 371040, 371047, 611314	Disease
46348	Paroxysmal extreme pain disorder	71859, 98006	Disease
98497	Genetic peripheral neuropathy	71859, 98496	Category
459033	Ataxia-oculomotor apraxia type 4	370106, 98099, 98497, 98688	Disease
166	Charcot-Marie-Tooth disease/Hereditary motor and sensory neuropathy	98497	Category
2926	Digital extensor muscle aplasia-polyneuropathy	166	Malformation syndrome
431320	Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder	100981, 166, 441434	Clinical group
320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	431320	Disease
431329	Autosomal recessive spastic paraplegia type 57	431320	Disease
468661	Autosomal recessive spastic paraplegia type 74	431320	Disease
476109	Axonal hereditary motor and sensory neuropathy	166	Clinical group
91024	Autosomal recessive axonal hereditary motor and sensory neuropathy	476109	Clinical group
466775	Autosomal recessive Charcot-Marie-Tooth disease type 2X	91024	Disease
466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	101939, 156604, 611314, 91024, 98099	Disease
101101	Charcot-Marie-Tooth disease type 2B2	91024	Disease
101102	Charcot-Marie-Tooth disease type 2H	91024	Disease
228374	Charcot-Marie-Tooth disease type 2B5	91024	Disease
300319	Charcot-Marie-Tooth disease type 2P	64746, 91024	Disease
324442	Autosomal recessive axonal neuropathy with neuromyotonia	91024	Disease
397968	Charcot-Marie-Tooth disease type 2R	91024	Disease
423894	Microcephaly-complex motor and sensory axonal neuropathy syndrome	91024	Disease
443073	Charcot-Marie-Tooth disease type 2S	91024	Disease
443950	DNAJB2-related Charcot-Marie-Tooth disease type 2	91024	Disease
90118	Severe early-onset axonal neuropathy due to MFN2 deficiency	91024	Disease
90119	Hereditary motor and sensory neuropathy with acrodystrophy	91024	Disease
98856	Charcot-Marie-Tooth disease type 2B1	300758, 91024	Disease
101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness	91024	Disease
90120	Hereditary motor and sensory neuropathy type 6	140456, 91024	Disease
495274	Charcot-Marie-Tooth disease type 2T	91024	Disease
538096	Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	91024	Disease
538101	Congenital axonal neuropathy with encephalopathy	91024	Disease
700508	Distal muscle weakness-foot deformity-elevated sorbitol level-hereditary motor neuropathy	91024	Disease
140456	Autosomal dominant hereditary axonal motor and sensory neuropathy	476109	Category
64746	Autosomal dominant Charcot-Marie-Tooth disease type 2	140456	Clinical group
99936	Autosomal dominant Charcot-Marie-Tooth disease type 2B	64746	Disease
99937	Autosomal dominant Charcot-Marie-Tooth disease type 2C	64746	Disease
99938	Autosomal dominant Charcot-Marie-Tooth disease type 2D	64746	Disease
99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	64746	Disease
99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F	64746	Disease
99942	Autosomal dominant Charcot-Marie-Tooth disease type 2I	64746	Disease
99943	Autosomal dominant Charcot-Marie-Tooth disease type 2J	64746	Disease
99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K	64746	Disease
99945	Autosomal dominant Charcot-Marie-Tooth disease type 2L	64746	Disease
99946	Autosomal dominant Charcot-Marie-Tooth disease type 2A1	64746	Disease
99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	64746	Disease
228174	Autosomal dominant Charcot-Marie-Tooth disease type 2N	64746	Disease
228179	Autosomal dominant Charcot-Marie-Tooth disease type 2M	64746	Disease
284232	Autosomal dominant Charcot-Marie-Tooth disease type 2O	64746	Disease
324611	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	64746	Disease
329258	Autosomal dominant Charcot-Marie-Tooth disease type 2Q	64746	Disease
397735	Autosomal dominant Charcot-Marie-Tooth disease type 2U	64746	Disease
401964	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons	64746	Disease
435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	64746	Disease
435819	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation	64746	Disease
447964	Autosomal dominant Charcot-Marie-Tooth disease type 2V	64746	Disease
466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	64746	Disease
487814	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation	64746	Disease
488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	64746	Disease
521414	Autosomal dominant Charcot-Marie-Tooth disease type 2DD	64746	Disease
64751	Hereditary motor and sensory neuropathy type 5	140456	Disease
90117	Hereditary motor and sensory neuropathy, Okinawa type	140456	Disease
476116	Demyelinating hereditary motor and sensory neuropathy	166	Clinical group
140453	Autosomal dominant hereditary demyelinating motor and sensory neuropathy	476116	Category
3115	Roussy-Lévy syndrome	140453	Disease
65753	Charcot-Marie-Tooth disease type 1	140453	Clinical group
101082	Charcot-Marie-Tooth disease type 1B	65753	Disease
101083	Charcot-Marie-Tooth disease type 1C	65753	Disease
101084	Charcot-Marie-Tooth disease type 1D	65753	Disease
101085	Charcot-Marie-Tooth disease type 1F	65753	Disease
84093	Hereditary thermosensitive neuropathy	140453	Disease
140481	Autosomal dominant slowed nerve conduction velocity	140453	Disease
476394	PMP2-related Charcot-Marie-Tooth disease type 1	140453	Disease
280598	Hereditary sensorimotor neuropathy with hyperelastic skin	140453	Disease
64748	Dejerine-Sottas syndrome	140453, 140459	Disease
140459	Autosomal recessive hereditary demyelinating motor and sensory neuropathy	476116	Category
64749	Charcot-Marie-Tooth disease type 4	140459	Clinical group
99948	Charcot-Marie-Tooth disease type 4A	64749	Disease
99949	Charcot-Marie-Tooth disease type 4C	64749	Disease
99950	Charcot-Marie-Tooth disease type 4D	64749	Disease
99951	Charcot-Marie-Tooth disease type 4E	64749	Disease
99952	Charcot-Marie-Tooth disease type 4F	64749	Disease
99953	Charcot-Marie-Tooth disease type 4G	64749	Disease
99954	Charcot-Marie-Tooth disease type 4H	64749	Disease
99955	Charcot-Marie-Tooth disease type 4B1	64749	Disease
99956	Charcot-Marie-Tooth disease type 4B2	64749	Disease
139515	Charcot-Marie-Tooth disease type 4J	64749	Disease
363981	Charcot-Marie-Tooth disease type 4B3	64749	Disease
453533	Polyendocrine-polyneuropathy syndrome	140459, 177107, 181381, 181387, 611314	Disease
476123	Intermediate Charcot-Marie-Tooth disease	166	Clinical group
90114	Autosomal dominant intermediate Charcot-Marie-Tooth disease	476123	Clinical group
93114	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E	567562, 90114	Disease
100043	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A	90114	Disease
100044	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B	90114	Disease
100045	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C	90114	Disease
100046	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D	90114	Disease
324585	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	90114	Disease
352670	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F	90114	Disease
268337	Autosomal recessive intermediate Charcot-Marie-Tooth disease	476123	Clinical group
217055	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A	268337	Disease
254334	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B	268337	Disease
369867	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C	268337	Disease
643	Giant axonal neuropathy	611314, 98497	Disease
2809	Familial recurrent peripheral facial palsy	98497	Disease
53739	Distal hereditary motor neuropathy	98497, 98505	Clinical group
140465	Autosomal dominant distal hereditary motor neuropathy	53739	Category
1216	Autosomal dominant congenital benign spinal muscular atrophy	140465	Disease
100998	Autosomal dominant spastic paraplegia type 17	100979, 140465	Disease
139518	Distal hereditary motor neuropathy type 1	140465	Disease
139525	Distal hereditary motor neuropathy type 2	140465	Disease
139536	Distal hereditary motor neuropathy type 5	140465	Disease
139589	Distal hereditary motor neuropathy type 7	140465	Disease
476093	HSPB8-related autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome	140465, 593	Disease
140468	Autosomal recessive distal hereditary motor neuropathy	53739	Category
98920	Spinal muscular atrophy with respiratory distress type 1	140468	Disease
139547	Distal spinal muscular atrophy type 3	140468	Disease
139552	Distal hereditary motor neuropathy, Jerash type	140468	Disease
314485	Young adult-onset distal hereditary motor neuropathy	140468	Disease
404538	X-linked distal hereditary motor neuropathy	53739	Category
404521	Spinal muscular atrophy with respiratory distress type 2	404538	Disease
64753	Spinocerebellar ataxia with axonal neuropathy type 2	519341, 522506, 98097, 98497	Disease
94124	Spinocerebellar ataxia with axonal neuropathy type 1	98097, 98497	Disease
140471	Hereditary sensory and autonomic neuropathy	98497	Clinical group
139583	X-linked hereditary sensory and autonomic neuropathy with deafness	140471	Disease
140474	Autosomal dominant hereditary sensory and autonomic neuropathy	140471	Category
90026	Primary erythromelalgia	140474	Disease
139564	Hereditary sensory and autonomic neuropathy type 1B	140474	Disease
391397	Hereditary sensory and autonomic neuropathy type 7	140474	Disease
653728	Congenital insensitivity to pain syndrome, Marsili type	140474, 140477	Disease
140477	Autosomal recessive hereditary sensory and autonomic neuropathy	140471	Category
642	Hereditary sensory and autonomic neuropathy type 4	140477, 611314	Disease
970	Hereditary sensory and autonomic neuropathy type 2	140477	Disease
64752	Hereditary sensory and autonomic neuropathy type 5	140477	Disease
88642	Congenital insensitivity to pain-anosmia-neuropathic arthropathy	140477	Disease
139573	Hereditary sensory and autonomic neuropathy with deafness and global delay	140477	Disease
139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	100981, 140477	Disease
314381	Hereditary sensory and autonomic neuropathy type 6	140477	Disease
401993	Cold-induced sweating syndrome-hyperthermia spectrum	140477	Clinical group
1545	Crisponi syndrome	401993	Malformation syndrome
157820	Cold-induced sweating syndrome	401993	Disease
603694	KLHL7-related Crisponi/cold-induced sweating-like syndrome	401993, 603699, 716405	Disease
320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	100981, 140477, 611314	Disease
478664	Hereditary sensory and autonomic neuropathy type 8	140477	Disease
453510	Congenital insensitivity to pain with severe intellectual disability	140477, 611314	Disease
217399	Congenital insensitivity to pain-hyperhidrosis-absence of cutaneous sensory innervation	140471	Disease
169464	Primary CD59 deficiency	459348, 98364, 98497	Disease
207015	Rare hereditary disease with peripheral neuropathy	98497	Category
207018	Rare hereditary metabolic disease with peripheral neuropathy	207015	Category
225703	Mitochondrial disease with peripheral neuropathy	207018	Category
207021	Rare hereditary systemic disease with peripheral neuropathy	207015	Category
85448	AGel amyloidosis	207021, 444116, 69, 98628	Disease
485418	EMILIN-1-related connective tissue disease	207021	Disease
207025	Rare hereditary neurologic disease with peripheral neuropathy	207015	Category
207028	Cerebellar ataxia with peripheral neuropathy	207025	Category
504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	207028, 98036, 98099	Disease
694922	Childhood-onset stress-induced neurodegenerative ataxia-seizure syndrome	166472, 207028, 98098	Disease
589522	Spinocerebellar ataxia type 46	207028, 94145	Disease
610573	CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome	182070, 183500, 207025, 611314	Disease
352723	Attenuated Chédiak-Higashi syndrome	182070, 183500, 207015	Disease
231013	Congenital trigeminal anesthesia	519349, 522510, 98497	Disease
306577	Hereditary sodium channelopathy-related small fibers neuropathy	98497	Disease
391384	Familial episodic pain syndrome	98497	Disease
391389	Familial episodic pain syndrome with predominantly upper body involvement	391384	Clinical subtype
391392	Familial episodic pain syndrome with predominantly lower limb involvement	391384	Clinical subtype
158124	Genetic dementia	71859	Category
482072	HTRA1-related cerebral small vessel disease	158124, 477754, 89043	Clinical group
199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy	482072	Disease
482077	HTRA1-related autosomal dominant cerebral small vessel disease	482072	Disease
1980	Bilateral striopallidodentate calcinosis	158124, 306666, 307055, 611314, 89043	Disease
98543	Metabolic disease with dementia	158124, 89043	Category
98544	Cerebral lipidosis with dementia	98543	Category
276058	Genetic neurodegenerative disease with dementia	158124, 183500	Category
54247	Posterior cortical atrophy	276058, 98534	Disease
399	Huntington disease	276058, 306719, 519347, 522522, 98534	Disease
1020	Early-onset autosomal dominant Alzheimer disease	276058, 98534	Disease
98538	Ataxia with dementia	276058, 98534	Category
98539	Early-onset ataxia with dementia	98538	Category
1172	Autosomal recessive cerebellar ataxia	183518, 98539	Clinical group
88644	Autosomal recessive ataxia, Beauce type	1172, 611314	Disease
98095	Autosomal recessive congenital cerebellar ataxia	1172	Category
1170	Autosomal recessive cerebelloparenchymal disorder type 3	522548, 611314, 98095, 98641	Disease
1766	Dysequilibrium syndrome	611314, 98095	Disease
94122	Cerebellar ataxia, Cayman type	611314, 98095	Disease
140874	Joubert syndrome and related disorders	519341, 522506, 98095	Category
453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	611314, 98095	Disease
512260	Congenital cerebellar ataxia due to RNU12 mutation	611314, 98095	Disease
98096	Autosomal recessive metabolic cerebellar ataxia	1172	Category
98097	Autosomal recessive cerebellar ataxia due to a DNA repair defect	1172	Category
1168	Ataxia-oculomotor apraxia type 1	519341, 522506, 98097	Disease
251347	Ataxia-telangiectasia-like disorder	183422, 252190, 611314, 79379, 98097	Disease
420741	RIDDLE syndrome	169346, 611314, 98097	Malformation syndrome
98098	Autosomal recessive degenerative and progressive cerebellar ataxia	1172	Category
1177	Early-onset cerebellar ataxia with retained tendon reflexes	98098	Disease
88628	Posterior column ataxia-retinitis pigmentosa syndrome	611314, 98098	Disease
98099	Autosomal recessive syndromic cerebellar ataxia	1172	Category
95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	98099	Disease
284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	611314, 98099	Disease
284289	Adult-onset autosomal recessive cerebellar ataxia	1172, 611314	Disease
284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	1172	Disease
284332	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia	1172	Disease
352403	Spectrin-associated autosomal recessive cerebellar ataxia	1172, 611314	Disease
404481	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome	1172, 166472, 611314	Clinical group
284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	404481	Disease
404493	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency	404481	Disease
404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency	404481	Disease
412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	1172, 611314	Disease
98540	Late-onset ataxia with dementia	98538	Category
99	Autosomal dominant cerebellar ataxia	183518, 98540	Category
94145	Autosomal dominant cerebellar ataxia type I	99	Clinical group
98773	Spinocerebellar ataxia type 21	611314, 94145	Disease
101108	Spinocerebellar ataxia type 23	94145	Disease
101110	Spinocerebellar ataxia type 20	94145	Disease
101111	Spinocerebellar ataxia type 25	94145	Disease
208513	Spinocerebellar ataxia type 29	94145	Disease
276183	Spinocerebellar ataxia type 32	611314, 94145	Disease
276193	Spinocerebellar ataxia type 35	94145	Disease
276198	Spinocerebellar ataxia type 36	94145	Disease
314647	Non-progressive cerebellar ataxia with intellectual disability	611314, 94145	Disease
363710	Spinocerebellar ataxia type 37	94145	Disease
423275	Spinocerebellar ataxia type 40	94145	Disease
98755	Spinocerebellar ataxia type 1	158266, 519341, 522506, 94145	Disease
98756	Spinocerebellar ataxia type 2	158266, 519341, 522506, 94145	Disease
98757	Spinocerebellar ataxia type 3	158266, 94145	Disease
276238	Machado-Joseph disease type 1	98757	Clinical subtype
276241	Machado-Joseph disease type 2	98757	Clinical subtype
276244	Machado-Joseph disease type 3	98757	Clinical subtype
98759	Spinocerebellar ataxia type 17	158266, 306695, 307058, 94145	Disease
98760	Spinocerebellar ataxia type 8	94145	Disease
98762	Spinocerebellar ataxia type 12	94145	Disease
98763	Spinocerebellar ataxia type 14	611314, 94145	Disease
98764	Spinocerebellar ataxia type 27A	94145	Disease
98765	Spinocerebellar ataxia type 4	94145	Disease
98769	Spinocerebellar ataxia type 15/16	94145	Disease
98771	Spinocerebellar ataxia type 18	94145	Disease
497764	Spinocerebellar ataxia type 43	94145	Disease
589515	PUM1-associated developmental disability-ataxia-seizure syndrome	166472, 611314, 94145	Disease
631103	Spinocerebellar ataxia type 48	94145	Disease
675216	Spinocerebellar ataxia type 27B	94145	Disease
631106	Spinocerebellar ataxia type 49	94145	Disease
94148	Autosomal dominant cerebellar ataxia type III	99	Clinical group
589527	Spinocerebellar ataxia type 45	94148	Disease
631095	Spinocerebellar ataxia type 44	94148	Disease
98766	Spinocerebellar ataxia type 5	94148	Disease
98767	Spinocerebellar ataxia type 11	94148	Disease
101112	Spinocerebellar ataxia type 26	94148	Disease
211017	Spinocerebellar ataxia type 30	94148	Disease
217012	Spinocerebellar ataxia type 31	94148	Disease
458798	Spinocerebellar ataxia type 41	94148	Disease
94149	Autosomal dominant cerebellar ataxia type IV	99	Clinical group
101	Dentatorubral pallidoluysian atrophy	158266, 94149	Disease
98761	Spinocerebellar ataxia type 10	94149	Disease
208508	Autosomal dominant cerebellar ataxia type II	99	Clinical group
94147	Spinocerebellar ataxia type 7	208508, 98687	Disease
642747	PUM1-related cerebellar ataxia	99	Disease
248111	Juvenile Huntington disease	276058, 306719, 519347, 522522, 98534	Disease
276061	Genetic frontotemporal degeneration with dementia	276058	Category
52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	206662, 276061, 98535	Disease
683	Progressive supranuclear palsy	276061, 306708, 98535, 98687	Disease
99750	Atypical progressive supranuclear palsy syndrome	683	Clinical subtype
240085	Progressive supranuclear palsy-predominant parkinsonism syndrome	306666, 99750	Clinical subtype
240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	99750	Clinical subtype
240103	Progressive supranuclear palsy-corticobasal syndrome	99750	Clinical subtype
240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	99750	Clinical subtype
240071	Classic progressive supranuclear palsy syndrome	683	Clinical subtype
282	Frontotemporal dementia	276061, 98535	Clinical group
100069	Semantic dementia	282, 95432	Disease
100070	Progressive non-fluent aphasia	282, 306708, 95432	Disease
275864	Behavioral variant of frontotemporal dementia	282, 306708	Disease
275872	Frontotemporal dementia with motor neuron disease	276061, 306708, 98535	Disease
401901	Huntington disease-like syndrome due to C9ORF72 expansions	276058, 306719, 98534	Disease
412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	276058, 98534	Disease
439254	ITM2B amyloidosis	276058, 444116, 69, 98534	Disease
97345	ABri amyloidosis	439254	Clinical subtype
97346	ADan amyloidosis	439254	Clinical subtype
411602	Hereditary late-onset Parkinson disease	182058, 276058, 306666, 307055, 448426, 98534	Disease
2289	Neuronal intranuclear inclusion disease	276058, 98534	Disease
280400	Inherited human prion disease	276058, 56970	Category
466	Fatal familial insomnia	280400	Disease
157941	Huntington disease-like 1	280400, 306719	Disease
282166	Inherited Creutzfeldt-Jakob disease	280400, 306695, 307058	Disease
356	Gerstmann-Straussler-Scheinker syndrome	280400	Disease
280397	Familial Alzheimer-like prion disease	280400	Disease
263440	Neuroacanthocytosis	158266, 276058, 306695, 307058, 98534	Clinical group
98934	Huntington disease-like 2	263440	Disease
98549	Rare cerebrovascular dementia	158124, 89043	Category
85458	Hereditary cerebral amyloid angiopathy	444116, 477754, 69, 98549	Disease
100006	ABeta amyloidosis, Dutch type	85458	Clinical subtype
100008	ACys amyloidosis	85458	Clinical subtype
324703	ABetaL34V amyloidosis	85458	Clinical subtype
324708	ABeta amyloidosis, Iowa type	85458	Clinical subtype
324713	ABeta amyloidosis, Italian type	85458	Clinical subtype
324718	ABetaA21G amyloidosis	85458	Clinical subtype
324723	ABeta amyloidosis, Arctic type	85458	Clinical subtype
136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	477754, 716459, 717348, 98549	Disease
575553	Cathepsin A-related arteriopathy-strokes-leukoencephalopathy	477754, 98549	Disease
164736	Familial advanced sleep-phase syndrome	68354, 71859	Disease
168778	Rare pervasive developmental disorder	71859, 98033	Category
778	Rett syndrome	166472, 168778, 306765, 611314	Disease
3095	Atypical Rett syndrome	166472, 168778, 306765, 611314	Disease
168782	Childhood disintegrative disorder	168778	Disease
180772	Rare disease with autism	168778	Category
329195	Developmental delay with autism spectrum disorder and gait instability	180772	Disease
500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	166472, 180772, 522548, 611314, 98641	Disease
589547	GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder	180772, 611314	Disease
199627	Atypical autism	168778	Disease
600663	NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance	168778, 611314, 68354	Malformation syndrome
561854	FOXG1 syndrome	166472, 168778, 306765, 611314	Disease
598164	FOXG1 syndrome due to intragenic alteration	561854	Clinical subtype
505652	CDKL5-deficiency disorder	168778, 306765, 611314, 693802	Disease
178506	Interstitial lung disease-brain calcification syndrome	71859, 98006	Disease
183497	Genetic neuromuscular disease	71859	Category
98495	Genetic neuromuscular junction disease	183497, 98491	Category
98505	Genetic motor neuron disease	183497, 98503	Category
85146	Neurogenic scapuloperoneal syndrome, Kaeser type	209041, 98505	Disease
137867	Madras motor neuron disease	98505	Disease
206701	Bulbospinal muscular atrophy	98505	Category
206704	Bulbospinal muscular atrophy of childhood	206701	Clinical group
206707	Bulbospinal muscular atrophy of adult	206701	Clinical group
481	Kennedy disease	182070, 183500, 206707, 399685	Disease
206710	Generalized bulbospinal muscular atrophy	206701	Clinical group
1217	Spinal atrophy-ophthalmoplegia-pyramidal syndrome	206710	Disease
206580	Autosomal recessive lower motor neuron disease with childhood onset	206710	Disease
207012	Spinal muscular atrophy associated with central nervous system anomaly	206701	Clinical group
211037	Autosomal dominant proximal spinal muscular atrophy	98505	Clinical group
209335	Autosomal dominant adult-onset proximal spinal muscular atrophy	211037	Disease
276435	Lower motor neuron syndrome with late-adult onset	211037	Disease
363447	Autosomal dominant childhood-onset proximal spinal muscular atrophy	211037	Disease
209341	DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy	363447	Etiological subtype
363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	363447	Etiological subtype
247604	Juvenile primary lateral sclerosis	98505	Disease
293168	Infantile-onset ascending hereditary spastic paralysis	98505	Disease
300605	Juvenile amyotrophic lateral sclerosis	98505	Disease
357043	Amyotrophic lateral sclerosis type 4	182070, 183500, 98505	Disease
431255	Scapuloperoneal spinal muscular atrophy	98505	Disease
70	Proximal spinal muscular atrophy	98505	Disease
83330	Proximal spinal muscular atrophy type 1	70	Clinical subtype
83418	Proximal spinal muscular atrophy type 2	70	Clinical subtype
83419	Proximal spinal muscular atrophy type 3	70	Clinical subtype
83420	Proximal spinal muscular atrophy type 4	70	Clinical subtype
2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	98261, 98505	Disease
206634	Genetic skeletal muscle disease	183497, 98472	Category
599	Distal myopathy	206634	Category
700143	X-linked distal myopathy	599	Category
700163	SMPX-related distal myopathy	700143	Disease
206650	Autosomal dominant distal myopathy	599	Category
603	Distal myopathy, Welander type	206650	Disease
609	Tibial muscular dystrophy	206650, 209053	Disease
600	Vocal cord and pharyngeal distal myopathy	206650	Disease
59135	Laing distal myopathy	206650, 209185	Disease
63273	FLNC-related handgrip and calf weakness-distal myopathy	206650	Disease
98911	Distal myotilinopathy	206650, 209224	Disease
98912	Late-onset distal myopathy, Markesbery-Griggs type	206650, 209050, 593	Disease
329478	Adult-onset distal myopathy due to VCP mutation	206650	Disease
399081	KLHL9-related early-onset distal myopathy	206650	Disease
399086	HNRNPA1-related adult-onset distal myopathy	206650	Disease
696063	PLIN4-related distal myopathy	206650	Disease
700154	TARDBP-related predominantly upper-limb distal myopathy	206650	Disease
700170	DNAJB4-related distal myopathy	206650, 593	Disease
700188	Calf-predominant weakness-gastrocnemius medialis atrophy-distal myopathy	206650	Disease
488650	Distal myopathy, Tateyama type	206650, 207078	Disease
206653	Autosomal recessive distal myopathy	599	Category
45448	Miyoshi myopathy	206653, 207073	Disease
178400	Distal myopathy with anterior tibial onset	206653, 207073	Disease
399096	Distal anoctaminopathy	206653	Disease
399103	Autosomal recessive distal nebulin myopathy	206653	Disease
689021	Asymptomatic hyperCKemia-myalgia-rhabdomyolysis syndrome	206653	Disease
482601	Adenylosuccinate synthetase-like 1-related distal myopathy	206653	Disease
88635	Vacuolar myopathy with sarcoplasmic reticulum protein aggregates	206634, 209199	Disease
98473	Muscular dystrophy	206634	Category
97242	Congenital muscular dystrophy	98473	Category
258	Laminin subunit alpha 2-related congenital muscular dystrophy	207094, 611314, 97242	Malformation syndrome
1875	Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome	522548, 97242, 98641	Disease
34520	Congenital muscular dystrophy with integrin alpha-7 deficiency	207098, 97242	Disease
97244	Rigid spine syndrome	209041, 209193, 97242	Disease
98893	Congenital muscular dystrophy type 1B	97242	Disease
157973	Congenital muscular dystrophy due to LMNA mutation	300755, 97242	Disease
199329	Congenital myopathy, Paradas type	207073, 97242	Disease
370953	Congenital muscular dystrophy due to dystroglycanopathy	97242	Category
371007	Congenital muscular dystrophy with hyperlaxity	97242	Disease
486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	611314, 97242	Disease
646098	Collagen VI-related congenital muscular dystrophy	207090, 97242	Clinical group
610	Bethlem muscular dystrophy	206644, 646098	Disease
75840	Ullrich congenital muscular dystrophy	646098	Disease
646113	Intermediate collagen VI-related muscular dystrophy	646098	Disease
662184	Congenital muscular dystrophy-cataract-intellectual disability syndrome	522548, 611314, 97242, 98641	Disease
206644	Progressive muscular dystrophy	98473	Category
269	Facioscapulohumeral dystrophy	206644	Disease
263	Limb-girdle muscular dystrophy	206644	Clinical group
102014	Autosomal dominant limb-girdle muscular dystrophy	263	Category
565909	Calpain-3-related limb-girdle muscular dystrophy D4	102014, 207104	Disease
34516	DNAJB6-related limb-girdle muscular dystrophy D1	102014	Disease
55595	TNP03-related limb-girdle muscular dystrophy D2	102014	Disease
55596	HNRNPDL-related limb-girdle muscular dystrophy D3	102014	Disease
102015	Autosomal recessive limb-girdle muscular dystrophy	263	Category
565837	Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23	102015, 207094	Disease
267	Calpain-3-related limb-girdle muscular dystrophy R1	102015, 207104	Disease
1878	TRIM32-related limb-girdle muscular dystrophy R8	102015, 207107	Disease
268	Dysferlin-related limb-girdle muscular dystrophy R2	102015, 207073	Disease
34514	Telethonin-related limb-girdle muscular dystrophy R7	102015, 209056	Disease
140922	Titin-related limb-girdle muscular dystrophy R10	102015, 209053	Disease
206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	102015, 207122	Disease
254361	Plectin-related limb-girdle muscular dystrophy R17	102015, 209196	Disease
369840	TRAPPC11-related limb-girdle muscular dystrophy R18	102015	Disease
424261	TOR1AIP1-related limb-girdle muscular dystrophy	102015, 424925	Disease
653725	Autosomal recessive limb-girdle muscular dystrophy, type 28	102015	Disease
25980	X-linked myopathy with excessive autophagy	206644, 206662	Disease
178461	X-linked myopathy with postural muscle atrophy	206644	Disease
178464	Hereditary myopathy with early respiratory failure	206644, 206662, 209053	Disease
206647	Myotonic dystrophy	206644, 206970	Clinical group
431263	Late-onset scapuloperoneal muscular dystrophy with hyaline bodies	206644	Clinical group
431272	X-linked scapuloperoneal muscular dystrophy	431263	Disease
466921	Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome	206644	Disease
447977	Progressive scapulohumeroperoneal distal myopathy	206644	Disease
206656	Non-dystrophic myopathy	206634	Category
521305	Proximal myopathy with focal depletion of mitochondria	206656	Disease
593	Myofibrillar myopathy	206656	Category
98910	Alpha-crystallinopathy	209044, 593	Clinical group
280553	Fatal infantile hypertonic myofibrillar myopathy	476403, 98910	Disease
209224	Myotilinopathy	207049, 593	Category
268129	Spheroid body myopathy	209224	Disease
171445	Muscle filaminopathy	209047, 593	Disease
199340	BAG3-related myofibrillar myopathy	593	Disease
476403	Hypercontractile muscle stiffness syndrome	593	Clinical group
496686	Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome	593	Disease
972	Hereditary continuous muscle fiber activity	206656, 98741	Disease
53347	Brody myopathy	206656, 209199	Disease
97238	Rippling muscle disease	206656, 207078	Disease
97245	Congenital myopathy	206656	Category
2020	Congenital fiber-type disproportion myopathy	209059, 209193, 284790, 97245	Disease
2593	Tubular aggregate myopathy	97245	Disease
3068	Intellectual disability-myopathy-short stature-endocrine defect syndrome	611314, 97245	Disease
595	Centronuclear myopathy	97245	Clinical group
169186	Autosomal recessive centronuclear myopathy	209053, 595, 98742	Disease
169189	Autosomal dominant centronuclear myopathy	595	Disease
604680	Symptomatic form of X-linked centronuclear myopathy in female carriers	207110, 595	Disease
319160	Congenital myopathy with internal nuclei and atypical cores	172976, 595	Disease
53698	Myosin storage myopathy	209185, 97245	Disease
636965	Autosomal dominant myosin storage myopathy	53698	Clinical subtype
636970	Autosomal recessive myosin storage myopathy	53698	Clinical subtype
97232	Fingerprint body myopathy	97245	Disease
97239	Reducing body myopathy	97245	Disease
97240	Zebra body myopathy	97245	Disease
98904	Congenital myopathy with excess of thin filaments	209059, 97245	Disease
171881	Cap myopathy	284790, 97245	Disease
171886	Cylindrical spirals myopathy	97245	Disease
171889	Myopathy with hexagonally cross-linked tubular arrays	97245	Disease
172976	Congenital myopathy with cores	97245	Clinical group
597	Central core disease	172976, 98742	Disease
598	Multiminicore myopathy	172976, 209193, 466658	Disease
98905	Congenital multicore myopathy with external ophthalmoplegia	598, 98742	Clinical subtype
178145	Moderate multiminicore disease with hand involvement	598, 98742	Clinical subtype
178148	Antenatal multiminicore disease with arthrogryposis multiplex congenita	598	Clinical subtype
324604	Classic multiminicore myopathy	598	Clinical subtype
324581	Benign Samaritan congenital myopathy	97245, 98742	Disease
363409	Fetal akinesia-cerebral and retinal hemorrhage syndrome	97245	Disease
424107	Congenital myopathy with myasthenic-like onset	97245, 98742	Disease
439212	Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome	97245	Disease
544602	Congenital myopathy with reduced type 2 muscle fibers	97245	Disease
457074	Congenital nemaline myopathy	97245	Clinical group
98902	Amish nemaline myopathy	284786, 457074, 607	Disease
171430	Severe congenital nemaline myopathy	209059, 209182, 457074, 607	Disease
171433	Intermediate nemaline myopathy	209059, 209182, 284790, 457074, 607	Disease
171436	Typical nemaline myopathy	209059, 209182, 284790, 457074, 607	Disease
98486	Metabolic myopathy	206656	Category
206966	Mitochondrial myopathy	98486	Category
171690	Metabolic myopathy due to lactate transporter defect	98486	Disease
206953	Muscular lipidosis	98486	Category
206959	Muscular glycogenosis	98486	Clinical group
206662	Inclusion myopathy	206656	Category
79091	Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	206662	Disease
84132	Desmin-related myopathy with Mallory body-like inclusions	206662, 209041, 209193	Disease
324381	Hereditary inclusion body myopathy type 4	206662	Disease
363677	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	206662, 519347, 522522	Disease
401768	Proximal myopathy with extrapyramidal signs	182070, 183500, 206656, 306695, 307058, 611314	Disease
607	Nemaline myopathy	206656	Clinical group
171439	Childhood-onset nemaline myopathy	209059, 209182, 284790, 607	Disease
171442	Adult-onset nemaline myopathy	209059, 209182, 607	Disease
289380	Myosclerosis	206656, 207090	Disease
206970	Myotonic syndrome	206634	Category
684	Paramyotonia congenita of Von Eulenburg	206970, 98738	Disease
612	Potassium-aggravated myotonia	206970, 98738	Clinical group
99734	Myotonia fluctuans	612	Disease
99735	Myotonia permanens	612	Disease
99736	Acetazolamide-responsive myotonia	612	Disease
206973	Congenital myotonia	206970	Clinical group
614	Thomsen and Becker disease	206973, 98739	Disease
371433	Genetic periodic paralysis	206634	Category
682	Hyperkalemic periodic paralysis	206976, 371433, 98738	Disease
397755	Periodic paralysis with transient compartment-like syndrome	206976, 371433, 98740	Disease
207049	Qualitative or quantitative protein defects in neuromuscular diseases	183497	Category
207052	Qualitative or quantitative defects of sarcoglycan	207049	Category
207060	Qualitative or quantitative defects of alpha-sarcoglycan	207052	Category
207063	Qualitative or quantitative defects of beta-sarcoglycan	207052	Category
207067	Qualitative or quantitative defects of gamma-sarcoglycan	207052	Category
207070	Qualitative or quantitative defects of delta-sarcoglycan	207052	Category
207073	Qualitative or quantitative defects of dysferlin	207049	Category
207078	Qualitative or quantitative defects of caveolin-3	207049	Category
206599	Isolated asymptomatic elevation of creatine phosphokinase	207078, 207085	Biological anomaly
207085	Qualitative or quantitative defects of dystrophin	207049	Category
207090	Qualitative or quantitative defects of collagen 6	207049	Category
207094	Laminin subunit alpha 2-related muscular dystrophy	207049	Category
207098	Qualitative or quantitative defects of integrin alpha-7	207049	Category
207101	Qualitative or quantitative defects of perlecan	207049	Category
207104	Qualitative or quantitative defects of calpain	207049	Category
207107	Qualitative or quantitative defects of TRIM32	207049	Category
207110	Qualitative or quantitative defects of myotubularin	207049	Category
209038	Qualitative or quantitative defects of myofibrillar proteins	207049	Category
209041	Qualitative or quantitative defects of desmin	209038	Category
209044	Qualitative or quantitative defects of alphaB-cristallin	209038	Category
209047	Qualitative or quantitative defects of filamin C	209038	Category
209050	Qualitative or quantitative defects of protein ZASP	209038	Category
209053	Qualitative or quantitative defects of titin	207049	Category
209056	Qualitative or quantitative defects of telethonin	207049	Category
209059	Qualitative or quantitative defects of alpha-actin	207049	Category
209182	Qualitative or quantitative defects of nebulin	207049	Category
209185	Qualitative or quantitative defects of beta-myosin heavy chain (MYH7)	207049	Category
209188	Qualitative or quantitative defects of emerin	207049	Category
209193	Qualitative or quantitative defects of selenoprotein N1	207049	Category
209196	Qualitative or quantitative defects of plectin	207049	Category
209199	Qualitative or quantitative defects of protein SERCA1	207049	Category
209203	Qualitative or quantitative defects of glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase -	207049	Category
284786	Qualitative or quantitative defects of troponin	207049	Category
284790	Qualitative or quantitative defects of tropomyosin	207049	Category
371024	Qualitative or quantitative defects of alpha-dystroglycan	207049	Category
207113	Qualitative or quantitative defects of protein involved in O-glycosylation of alpha-dystroglycan	371024	Category
207119	Qualitative or quantitative defects of FKRP	207113	Category
207122	Qualitative or quantitative defects of fukutin	207113	Category
209024	Qualitative or quantitative defects of protein O-mannose beta1,2N-acetylglucosaminyltransferase	207113	Category
209027	Qualitative or quantitative defects of protein glycosyltransferase-like	207113	Category
209030	Qualitative or quantitative defects of protein O-mannosyltransferase 1	207113	Category
209033	Qualitative or quantitative defects of protein O-mannosyltransferase 2	207113	Category
371040	Primary qualitative or quantitative defects of alpha-dystroglycan	371024	Category
424925	Qualitative or quantitative defects of Torsin-1A-interacting protein 1	207049	Category
98737	Genetic neurological muscular channelopathy	183497, 71864	Category
98738	Neurological muscular channelopathy due to a genetic sodium channel defect	98737	Category
98739	Neurological muscular channelopathy due to a genetic chloride channel defect	98737	Category
98740	Neurological muscular channelopathy due to a genetic calcium channel defect	98737	Category
98741	Neurological muscular channelopathy due to a genetic potassium channel defect	98737	Category
36899	Myoclonus-dystonia syndrome	306750, 391711, 98741	Disease
98742	Neurological muscular channelopathy due to a genetic ryanodine receptor defect	98737	Category
423	Malignant hyperthermia of anesthesia	466658, 98742	Disease
183500	Genetic neurodegenerative disease	71859	Category
685	Hereditary spastic paraplegia	182070, 183500	Clinical group
102012	Pure hereditary spastic paraplegia	685	Clinical group
100980	Autosomal dominant pure spastic paraplegia	102012	Clinical group
100993	Autosomal dominant spastic paraplegia type 12	100980	Disease
100999	Autosomal dominant spastic paraplegia type 19	100980	Disease
171612	Autosomal dominant spastic paraplegia type 37	100980	Disease
171863	Autosomal dominant spastic paraplegia type 42	100980	Disease
320355	Autosomal dominant spastic paraplegia type 41	100980	Disease
401849	Autosomal spastic paraplegia type 72	100980, 100982	Disease
444099	Autosomal dominant spastic paraplegia type 73	100980	Disease
689231	IFIH1-related hereditary spastic paraplegia	100980	Disease
694356	ADAR-related hereditary spastic paraplegia	100980	Disease
631068	Autosomal dominant spastic paraplegia type 80	100980	Disease
100982	Autosomal recessive pure spastic paraplegia	102012	Clinical group
101004	Autosomal recessive spastic paraplegia type 24	100982	Disease
101008	Autosomal recessive spastic paraplegia type 28	100982	Disease
401785	Autosomal recessive spastic paraplegia type 62	100982	Disease
401840	Autosomal recessive spastic paraplegia type 71	100982	Disease
631076	Autosomal recessive spastic paraplegia type 83	100982	Disease
689234	RNASEH2B-related hereditary spastic paraplegia	100982	Disease
320332	X-linked pure spastic paraplegia	102012	Clinical group
171607	X-linked spastic paraplegia type 34	320332	Disease
102013	Complex hereditary spastic paraplegia	685	Clinical group
98888	X-linked complex spastic paraplegia	102013	Clinical group
100979	Autosomal dominant complex spastic paraplegia	102013	Clinical group
447753	Autosomal dominant spastic paraplegia type 9A	100979, 522548, 98641	Disease
2819	Spastic paraplegia-facial-cutaneous lesions syndrome	100979	Malformation syndrome
2821	Spastic paraplegia-neuropathy-poikiloderma syndrome	100979	Disease
2826	Spastic paraplegia-precocious puberty syndrome	100979	Disease
101009	Autosomal dominant spastic paraplegia type 29	100979	Disease
171617	Autosomal dominant spastic paraplegia type 38	100979	Disease
320365	Autosomal dominant spastic paraplegia type 36	100979	Disease
329475	Spastic paraplegia-Paget disease of bone syndrome	100979	Disease
100981	Autosomal recessive complex spastic paraplegia	102013	Clinical group
477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	100981, 611314	Disease
459056	Autosomal recessive spastic paraplegia type 75	100981, 611314	Disease
2818	Spastic paraplegia-glaucoma-intellectual disability syndrome	100981, 611314, 98638	Disease
100996	Kjellin syndrome	100981, 611314, 716427	Disease
101000	Autosomal recessive spastic paraplegia type 20	100981, 611314	Disease
101003	Autosomal recessive spastic paraplegia type 23	100981	Disease
101005	Autosomal recessive spastic paraplegia type 25	100981	Disease
101006	Autosomal recessive spastic paraplegia type 26	100981, 611314	Disease
171622	Autosomal recessive spastic paraplegia type 32	100981	Disease
280763	Severe intellectual disability and progressive spastic paraplegia	100981, 611314	Disease
319199	Autosomal recessive spastic paraplegia type 53	100981, 611314	Disease
320370	Autosomal recessive spastic paraplegia type 43	100981	Disease
320380	Autosomal recessive spastic paraplegia type 54	100981, 611314	Disease
320391	Autosomal recessive spastic paraplegia type 46	100981, 611314	Disease
320401	Autosomal recessive spastic paraplegia type 44	100981	Disease
397946	Autosomal spastic paraplegia type 58	100981	Disease
401780	Autosomal recessive spastic paraplegia type 61	100981	Disease
401795	Autosomal recessive spastic paraplegia type 59	100981	Disease
401800	Autosomal recessive spastic paraplegia type 60	100981	Disease
401805	Autosomal recessive spastic paraplegia type 63	100981	Disease
401810	Autosomal recessive spastic paraplegia type 64	100981, 611314	Disease
401815	Autosomal recessive spastic paraplegia type 66	100981	Disease
401830	Autosomal recessive spastic paraplegia type 69	100981	Disease
401835	Autosomal recessive spastic paraplegia type 70	100981	Disease
447760	Autosomal recessive spastic paraplegia type 9B	100981, 611314	Disease
101001	Autosomal recessive spastic paraplegia type 21	100981	Disease
171629	Autosomal recessive spastic paraplegia type 35	100981	Disease
496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	100981	Disease
488594	Autosomal recessive spastic paraplegia type 76	100981	Disease
631073	Autosomal recessive spastic paraplegia type 82	100981	Disease
631079	Autosomal recessive spastic paraplegia type 84	100981	Disease
513436	Autosomal recessive spastic paraplegia type 78	100981	Disease
631082	Autosomal recessive spastic paraplegia type 85	100981	Disease
631085	Autosomal recessive spastic paraplegia type 86	100981	Disease
320360	MT-ATP6-related mitochondrial spastic paraplegia	102013	Disease
320335	Pure or complex hereditary spastic paraplegia	685	Clinical group
320342	Pure or complex autosomal dominant spastic paraplegia	320335	Clinical group
101010	Autosomal spastic paraplegia type 30	320342, 320346	Disease
209951	Autosomal spastic paraplegia type 18	320342, 611314	Disease
100984	Autosomal dominant spastic paraplegia type 3	320342	Disease
100985	Autosomal dominant spastic paraplegia type 4	320342	Disease
100988	Autosomal dominant spastic paraplegia type 6	320342	Disease
100991	Autosomal dominant spastic paraplegia type 10	320342, 611314	Disease
100994	Autosomal dominant spastic paraplegia type 13	320342	Disease
101011	Autosomal dominant spastic paraplegia type 31	320342	Disease
447757	Autosomal dominant spastic paraplegia type 9B	320342	Disease
100989	Autosomal dominant spastic paraplegia type 8	320342	Disease
320346	Pure or complex autosomal recessive spastic paraplegia	320335	Clinical group
631088	Autosomal recessive spastic paraplegia type 87	320346	Disease
2822	Autosomal recessive spastic paraplegia type 11	320346, 611314	Disease
100986	Autosomal recessive spastic paraplegia type 5A	320346	Disease
100995	Autosomal recessive spastic paraplegia type 14	320346	Disease
320396	Autosomal recessive spastic paraplegia type 45	320346, 611314	Disease
320411	Autosomal recessive spastic paraplegia type 56	320346, 611314	Disease
101007	Autosomal recessive spastic paraplegia type 27	320346	Disease
320350	Pure or complex X-linked spastic paraplegia	320335	Clinical group
59	Allan-Herndon-Dudley syndrome	320350, 596426, 611314	Disease
100997	X-linked spastic paraplegia type 16	320350	Disease
35689	Primary lateral sclerosis	182070, 183500, 98503	Disease
85162	Facial onset sensory and motor neuronopathy	182070, 183500	Disease
85292	X-linked spinocerebellar ataxia type 4	183500, 247765, 611314, 89043	Disease
85334	X-linked neurodegenerative syndrome, Bertini type	182070, 183500, 611314	Disease
85336	X-linked neurodegenerative syndrome, Hamel type	182070, 183500, 611314	Disease
158266	Huntington disease-like syndrome	183500, 89043	Clinical group
494541	Childhood-onset benign chorea with striatal involvement	158266, 306719	Disease
1429	Benign hereditary chorea	158266, 306719	Disease
157946	Huntington disease-like 3	158266, 182070, 306695, 307058	Disease
803	Amyotrophic lateral sclerosis	182070, 183500, 98503	Disease
352654	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	182070, 183500, 441434	Disease
363969	Autosomal recessive cerebral atrophy	182070, 183500	Disease
391343	Fatal post-viral neurodegenerative disorder	102005, 182070, 183500	Disease
1576	Infantile bilateral striatal necrosis	182070, 183500, 306695, 307058, 611314	Clinical group
225147	Sporadic infantile bilateral striatal necrosis	1576	Disease
225154	Familial infantile bilateral striatal necrosis	1576	Disease
621758	Fibrosis-neurodegeneration-cerebral angiomatosis syndrome	182070, 183500, 264694, 264992, 477754	Disease
497906	Childhood-onset basal ganglia degeneration syndrome	182070, 183500, 370106	Disease
500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	182070, 183500, 306695, 307058, 611314	Disease
183503	Genetic central nervous system and retinal vascular disease	71859	Category
891	Familial exudative vitreoretinopathy	183503, 71281, 716441, 716466, 717345	Disease
477771	Rare disorder with a moyamoya angiopathy	183503, 477768	Category
232	Sickle cell anemia	275752, 399185, 477771, 93614	Disease
477754	Genetic cerebral small vessel disease	183503, 71281	Category
247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	182228, 477647, 477754, 716459, 717348	Disease
313838	Coats plus syndrome	477754, 716459, 717348	Disease
542310	Leukoencephalopathy with calcifications and cysts	477754	Disease
477759	COL4A1 or COL4A2-related cerebral small vessel disease	477754	Category
477765	COL4A1 or COL4A2-related cerebral small vessel disease with hemorrhagic tendency	477759	Clinical group
36383	COL4A1/2-related familial vascular leukoencephalopathy	477765	Disease
73229	HANAC syndrome	477765, 544590	Disease
75326	Familial isolated retinal arteriolar tortuosity	477765	Disease
477762	COL4A1 or COL4A2-related cerebral small vessel disease with ischemic tendency	477759	Clinical group
477749	Pontine autosomal dominant microangiopathy with leukoencephalopathy	477762	Disease
314572	Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome	477754, 716405	Disease
689001	Isolated spontaneous cervical artery dissection	183503, 496924, 71281	Disease
140989	Primary angiitis of the central nervous system	156143, 156146, 183503, 71281	Disease
371436	Genetic neurovascular malformation	183503	Category
231160	Familial cerebral saccular aneurysm	102006, 371436	Disease
183506	Genetic central nervous system malformation	183530, 71859	Category
269550	Genetic non-syndromic central nervous system malformation	183506	Category
269553	Genetic cerebral malformation	269550	Category
269557	Genetic posterior fossa malformation	269550	Category
269560	Genetic cerebellar malformation	269557	Category
269564	Genetic syndrome with a central nervous system malformation as a major feature	183506	Category
269567	Genetic syndrome with a cerebellar malformation as a major feature	269564	Category
269570	Genetic syndrome with a Dandy-Walker malformation as a major feature	269567	Category
269573	Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature	269564	Category
183509	Rare genetic headache	71859	Category
183512	Rare genetic epilepsy	71859	Category
166481	Metabolic diseases with epilepsy	101998, 183512	Category
225681	Lysosomal disease with epilepsy	166481	Category
371442	Sphingolipidosis with epilepsy	225681	Category
225686	Peroxisomal disease with epilepsy	166481	Category
225689	Amino acid or protein metabolism disease with epilepsy	166481	Category
225692	Metal transport or utilization disorder with epilepsy	166481	Category
225696	Energy metabolism disorder with epilepsy	166481	Category
225700	Mitochondrial disease with epilepsy	225696	Category
225707	Metabolic neurotransmission anomaly with epilepsy	166481	Category
225710	Sterol metabolism disorder with epilepsy	166481	Category
225713	Other metabolic disease with epilepsy	166481	Category
79134	DEND syndrome	166481, 224	Disease
166469	Chromosomal anomaly with epilepsy as a major feature	101998, 183512	Category
166463	Epilepsy syndrome	101998, 183512	Category
98259	Childhood-onset epilepsy syndrome	166463	Category
1942	Epilepsy with myoclonic-atonic seizures	611314, 98259	Disease
309	Familial partial epilepsy	166475, 182083, 98259, 98260	Clinical group
98819	Familial temporal lobe epilepsy	309	Disease
99701	Mesial temporal lobe epilepsy with hippocampal sclerosis	309	Disease
163717	Familial mesial temporal lobe epilepsy	309	Disease
725	Developmental and epileptic encephalopathy with spike-wave activation in sleep	98259	Disease
25968	Self-limited childhood occipital epilepsy	98259	Disease
98815	Self-limited epilepsy with autonomic seizures	25968	Clinical subtype
98816	Childhood occipital visual epilepsy	25968	Clinical subtype
98818	Landau-Kleffner syndrome	98259	Disease
163708	Cryptogenic late-onset epileptic spasms	98259	Disease
163721	Rolandic epilepsy-speech dyspraxia syndrome	611314, 98259	Disease
163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	98259	Disease
289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	611314, 98259	Disease
86911	Epilepsy with myoclonic absences	306759, 98259	Disease
86908	Hemiconvulsion-hemiplegia-epilepsy syndrome	98259	Disease
98260	Adolescent-onset epilepsy syndrome	166463	Category
86814	Familial adult myoclonic epilepsy	306750, 98260	Disease
693802	Neonatal-infantile onset epilepsy syndrome	166463	Clinical group
166308	Benign infantile focal epilepsy with midline spikes and waves during sleep	693802	Disease
163681	CNTNAP2-related developmental and epileptic encephalopathy	611314, 693802	Disease
599373	STXBP1-related encephalopathy	611314, 693802	Disease
697160	Infantile epileptic spasms syndrome	693802	Disease
1943	Early-onset progressive encephalopathy with migrant continuous myoclonus	693802	Disease
209370	MECP2-related severe neonatal encephalopathy	166472, 693802	Disease
86909	Myoclonic epilepsy of infancy	693802	Disease
544254	SYNGAP1-related developmental and epileptic encephalopathy	611314, 693802	Disease
86906	Gelastic seizures with hypothalamic hamartoma	166478, 693802	Disease
699645	Variable age-onset epilepsy syndrome	166463	Clinical group
86913	Myoclonic epilepsy in non-progressive encephalopathies	699645	Malformation syndrome
698005	Epilepsy with generalized tonic-clonic seizures alone	699645	Disease
1941	Juvenile absence epilepsy	699645	Disease
98820	Familial focal epilepsy with variable foci	699645	Disease
101046	Epilepsy with auditory features	699645	Disease
310	Reflex epilepsy	699645	Clinical group
166409	Photosensitive occipital lobe epilepsy	310	Disease
166412	Hot water reflex epilepsy	310	Disease
166415	Audiogenic epilepsy	310	Disease
166418	Eating reflex epilepsy	310	Disease
166421	Orgasm-induced epilepsy	310	Disease
166424	Thinking epilepsy	310	Disease
166427	Startle epilepsy	310	Disease
166430	Micturition-induced epilepsy	310	Disease
166433	Epilepsy with reading-induced seizures	310	Disease
98261	Progressive myoclonic epilepsy	306756, 699645	Clinical group
501	Lafora disease	98261	Disease
308	Progressive myoclonic epilepsy type 1	611314, 98261	Disease
85110	Familial encephalopathy with neuroserpin inclusion bodies	250808, 98261	Disease
530303	Progressive dementia with neuroserpin inclusion bodies	85110	Clinical subtype
530298	Progressive myoclonic epilepsy with neuroserpin inclusion bodies	85110	Clinical subtype
280620	Progressive myoclonic epilepsy type 6	98261	Disease
324290	PRDM8-related progressive myoclonus epilepsy	98261	Disease
402082	Progressive myoclonic epilepsy type 5	98261	Disease
457265	Progressive myoclonic epilepsy type 9	98261	Disease
166466	Neurocutaneous syndrome with epilepsy	101998, 183512	Category
166472	Monogenic disease with epilepsy	101998, 183512	Category
428	Autosomal dominant hypocalcemia	166472, 2238	Clinical subtype
3173	Infantile spasms-broad thumbs syndrome	166472, 522548, 98641	Disease
99989	Intermediate DEND syndrome	166472, 224	Disease
2076	X-linked intellectual disability-epilepsy syndrome	166472, 611314	Clinical group
93952	X-linked intellectual disability, Hedera type	2076	Disease
163985	Hyperekplexia-epilepsy syndrome	183521, 2076, 306773	Disease
85294	X-linked epilepsy-learning disabilities-behavior disorders syndrome	166472, 611314	Disease
182079	ARX-related epileptic encephalopathy	166472	Clinical group
3175	X-linked spasticity-intellectual disability-epilepsy syndrome	182079, 611314	Disease
94083	Partington syndrome	182079, 611314	Malformation syndrome
364063	Infantile epileptic-dyskinetic encephalopathy	182079, 391711	Disease
182083	Channelopathy with epilepsy	166472	Category
352582	Familial infantile myoclonic epilepsy	166472, 611314	Disease
352596	Progressive myoclonic epilepsy with dystonia	166472	Disease
391316	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	166472	Disease
435845	Lethal neonatal spasticity-epileptic encephalopathy syndrome	166472	Malformation syndrome
488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	166472, 519343, 522508, 611314	Malformation syndrome
163696	Action myoclonus-renal failure syndrome	166472, 567562	Disease
397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	166472, 611314	Disease
101685	Rare non-syndromic intellectual disability	166472, 183757, 87277	Disease
777	X-linked non-syndromic intellectual disability	101685	Etiological subtype
88616	Autosomal recessive non-syndromic intellectual disability	101685	Etiological subtype
178469	Autosomal dominant non-syndromic intellectual disability	101685	Etiological subtype
592564	GNAO1-related developmental delay-seizures-movement disorder spectrum	166472, 494457, 496916, 522520, 611314	Disease
662367	NESCAV syndrome	166472, 611314	Disease
166475	Idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes	101998, 183512	Category
166478	Cerebral malformation with epilepsy	101998, 183512	Category
166487	Cerebral diseases of vascular origin with epilepsy	101998, 183512	Category
183515	Rare genetic medullar disease	71859	Category
2285	Primary basilar invagination	102000, 183515	Morphological anomaly
2585	Ataxia-pancytopenia syndrome	102000, 183515	Malformation syndrome
183518	Hereditary ataxia	102002, 71859	Category
1178	Ataxia-tapetoretinal degeneration syndrome	183518	Disease
1173	Cerebellar ataxia-hypogonadism syndrome	181387, 183518	Disease
1180	Ataxia-hypogonadism-choroidal dystrophy syndrome	181387, 183518, 716342	Disease
1185	Spinocerebellar ataxia-dysmorphism syndrome	183518	Disease
2579	Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome	183518, 716405	Disease
211062	Hereditary episodic ataxia	183518	Category
79135	Episodic ataxia type 3	211062	Disease
79136	Episodic ataxia type 4	211062	Disease
209967	Episodic ataxia type 6	211062	Disease
209970	Episodic ataxia type 7	211062	Disease
211067	Episodic ataxia type 5	211062	Disease
401953	Episodic ataxia with slurred speech	211062	Disease
247765	X-linked cerebellar ataxia	183518	Category
1175	X-linked progressive cerebellar ataxia	247765, 611314	Disease
85338	X-linked intellectual disability-ataxia-apraxia syndrome	247765, 611314	Disease
93256	Fragile X-associated tremor/ataxia syndrome	247765, 306712, 307061	Malformation syndrome
314978	X-linked non progressive cerebellar ataxia	247765	Disease
316226	Spastic ataxia	183518	Clinical group
316235	Autosomal dominant spastic ataxia	316226	Category
1182	Spastic ataxia with congenital miosis	316235, 519286, 522568	Disease
251282	Autosomal dominant spastic ataxia type 1	316235	Disease
316240	Autosomal recessive spastic ataxia	316226	Category
98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	316240	Disease
2572	Spastic ataxia-corneal dystrophy syndrome	316240, 522548, 98628, 98641	Disease
2672	Neuhauser-Eichner-Opitz syndrome	183518	Malformation syndrome
183521	Rare genetic movement disorder	71859	Category
238722	Familial congenital mirror movements	102003, 183521, 611314	Disease
496916	Rare genetic hyperkinetic movement disorder	183521	Category
306719	Neurodegenerative disease with chorea	306715, 496916	Category
209905	Brain-lung-thyroid syndrome	100049, 177107, 306719, 611314	Disease
306765	Motor stereotypies	494457, 496916	Category
307061	Rare genetic tremor disorder	496916	Category
53372	Hereditary geniospasm	306712, 307061	Disease
307064	Rare genetic myoclonus	496916	Category
306750	Primary myoclonus	306747, 307064	Category
319189	Familial cortical myoclonus	306750	Disease
221083	Hemifacial spasm	306750	Disease
307067	Rare genetic disease with myoclonus as a major feature	307064	Category
306756	Epilepsy and/or ataxia with myoclonus as a major feature	306753, 307067	Category
306759	Non progressive epilepsy and/or ataxia with myoclonus as a major feature	306756	Category
391799	Rare genetic dystonia	496916	Category
98203	Combined dystonia	391799, 68363	Category
200037	Paroxysmal dystonia	306768, 98203	Clinical group
1431	Paroxysmal dyskinesia	200037	Clinical group
98810	Paroxysmal non-kinesigenic dyskinesia	1431	Disease
98811	Paroxysmal exertion-induced dyskinesia	1431, 611314	Disease
53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	200037	Disease
71518	Benign paroxysmal torticollis of infancy	200037	Disease
391711	Persistent combined dystonia	98203	Clinical group
589618	Dystonia 28	391711, 611314	Disease
53351	X-linked dystonia-parkinsonism	306666, 307055, 391711	Disease
71517	Rapid-onset dystonia-parkinsonism	307052, 391711, 68402	Disease
210571	Dystonia 16	306666, 307055, 391711	Disease
238455	Infantile dystonia-parkinsonism	306666, 307055, 391711, 611314	Disease
370109	Ataxia-telangiectasia variant	391711	Disease
412217	Dystonia-aphonia syndrome	391711	Disease
156159	Isolated dystonia	391799, 68363	Category
1866	Focal, segmental or multifocal dystonia	156159	Category
93958	Oromandibular dystonia	1866	Disease
93964	Blepharospasm-oromandibular dystonia syndrome	1866	Disease
98805	Primary dystonia, DYT4 type	1866	Disease
98807	Primary dystonia, DYT13 type	1866	Disease
99657	Primary dystonia, DYT2 type	1866	Disease
329466	Autosomal dominant focal dystonia, DYT25 type	1866	Disease
370103	Primary dystonia, DYT17 type	1866	Disease
420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement	1866	Disease
420492	Adult-onset cervical dystonia, DYT23 type	1866	Disease
464440	Primary dystonia, DYT27 type	1866	Disease
494526	Infantile-onset generalized dyskinesia with orofacial involvement	1866, 611314	Disease
376724	Generalized isolated dystonia	156159	Category
256	Early-onset generalized limb-onset dystonia	376724	Disease
98806	Primary dystonia, DYT6 type	376724	Disease
306734	Primary dystonia, DYT21 type	376724	Disease
370106	Rare disorder with dystonia and other neurologic or systemic manifestation	391799, 68363	Category
597623	IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome	370106	Disease
660017	Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome	370106, 611314	Disease
660012	Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to a NR4A2 point mutation	660017	Etiological subtype
1617	Developmental delay-language impairment-dopa responsive dystonia-parkinsonism syndrome due to 2q24 microdeletion	660017	Etiological subtype
522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	494457, 496916, 522520, 611314, 98683	Disease
306768	Rare paroxysmal movement disorder	102003, 183521	Category
1179	Benign paroxysmal tonic upgaze of childhood with ataxia	306768	Disease
324588	Familial dyskinesia and facial myokymia	306768	Disease
307052	Rare genetic parkinsonian disorder	183521	Category
307055	Rare parkinsonian syndrome due to genetic neurodegenerative disease	307052	Category
2828	Young-onset Parkinson disease	182058, 306666, 307055, 448426	Disease
2379	Early-onset parkinsonism-intellectual disability syndrome	306666, 307055, 611314	Disease
171695	Parkinsonian-pyramidal syndrome	306666, 307055	Disease
178509	Perry syndrome	306666, 307055	Disease
228169	Autosomal dominant striatal neurodegeneration	306666, 307055	Disease
306669	Hemiparkinsonism-hemiatrophy syndrome	306666, 307055	Disease
514980	ATP13A2-related parkinsonism	306666, 307055	Clinical group
363654	X-linked parkinsonism-spasticity syndrome	306666, 307055	Disease
391411	Atypical juvenile parkinsonism	306666, 307055	Disease
307058	Miscellaneous movement disorder due to genetic neurodegenerative disease	183521	Category
306708	Frontotemporal neurodegeneration with movement disorder	306695, 307058	Category
454887	Corticobasal syndrome	306666, 306708, 98535	Disease
369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	183521, 306715, 611314	Disease
183757	Rare genetic intellectual disability	71859	Category
183763	Rare genetic syndromic intellectual disability	183757	Category
611327	Genetic multiple congenital anomalies/dysmorphic syndrome-intellectual disability	183533, 183763	Category
611314	Rare syndromic intellectual disability without multiple congenital anomalies/dysmorphic syndrome	102369, 183763	Category
168577	Hereditary cryohydrocytosis with reduced stomatin	611314, 98365	Disease
541423	Growth delay-intellectual disability-hepatopathy syndrome	101939, 156604, 611314	Disease
2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	181381, 183625, 611314	Disease
1571	Knobloch syndrome	611314, 716427, 716446	Malformation syndrome
791	Retinitis pigmentosa	156168, 156171, 611314, 716410, 717324	Disease
3204	Stormorken-Sjaastad-Langslet syndrome	477794, 519286, 522568, 611314	Disease
641361	Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome	611314	Disease
641353	Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome	611314	Disease
643549	Hao-Fountain syndrome	611314	Disease
643538	Hao-Fountain syndrome due to USP7 mutation	643549	Etiological subtype
647788	Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome	611314	Disease
674653	Actinomyopathy-associated syndromic thrombocytopenia	477794, 611314, 674648	Disease
675767	Severe congenital neutropenia-developmental delay syndrome due to SRP54 deficiency	331184, 611314	Disease
692173	Marbach-Schaaf neurodevelopmental syndrome	611314	Disease
100974	FRAXF syndrome	611314	Disease
73272	Growth delay due to insulin-like growth factor type 1 deficiency	181393, 611314	Disease
93607	Autosomal recessive proximal renal tubular acidosis	47159, 611314	Clinical subtype
67045	X-linked intellectual disability with isolated growth hormone deficiency	231692, 611314	Clinical subtype
85277	X-linked intellectual disability, Cantagrel type	611314	Malformation syndrome
85290	X-linked intellectual disability, Wilson type	611314	Malformation syndrome
98890	Early-onset X-linked optic atrophy	441434, 611314	Disease
100973	FRAXE intellectual disability	611314	Disease
280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	611314	Disease
289483	Intellectual disability-alacrima-achalasia syndrome	611314, 98604	Disease
356996	ANK3-related intellectual disability-sleep disturbance syndrome	611314	Disease
401777	Optic atrophy-intellectual disability syndrome	441434, 611314	Disease
95716	Familial thyroid dyshormonogenesis	611314, 95714	Disease
88619	Familial acute necrotizing encephalopathy	611314	Disease
65	Leber congenital amaurosis	156174, 522548, 611314, 716410, 717324, 98622, 98641	Disease
73273	Growth delay due to insulin-like growth factor I resistance	181393, 611314	Disease
95496	Pituitary stalk interruption syndrome	611314, 95488	Morphological anomaly
99885	Isolated permanent neonatal diabetes mellitus	224, 611314	Disease
361	Familial glucocorticoid deficiency	101960, 611314	Disease
436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	211053, 611314	Malformation syndrome
457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	611314	Disease
468620	Intellectual disability-epilepsy-extrapyramidal syndrome	611314	Disease
621	Autosomal recessive methemoglobinemia	158300, 611314, 707993	Disease
2573	Moyamoya disease	477768, 611314	Disease
565788	Infantile inflammatory bowel disease with neurological involvement	165655, 169361, 611314	Disease
1313	Infantile choroidocerebral calcification syndrome	522520, 611314, 98683	Disease
3011	Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome	611314, 716405	Disease
2375	Laryngeal abductor paralysis-intellectual disability syndrome	611314	Malformation syndrome
3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	611314	Malformation syndrome
412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	611314	Malformation syndrome
2268	ICF syndrome	169346, 611314	Malformation syndrome
528084	Non-specific syndromic intellectual disability	183757, 87277	Disease
209908	Isolated childhood apraxia of speech	211053, 71859	Disease
209978	Alternating hemiplegia	71859, 98006	Clinical group
2131	Alternating hemiplegia of childhood	209978	Disease
209973	Benign nocturnal alternating hemiplegia of childhood	209978	Disease
210141	Inherited congenital spastic tetraplegia	71859, 98006	Disease
434786	Rare genetic autonomic nervous system disorder	71859	Category
661	Congenital central hypoventilation syndrome	101944, 156610, 423662, 434786	Disease
199282	Harlequin syndrome	423662, 434786	Disease
581271	Cramp-fasciculation syndrome	423662, 434786, 98750	Disease
481665	Pseudo-TORCH syndrome type 2	477647, 481671, 71859, 98006	Disease
521232	Genetic primary orthostatic disorder	71859	Category
448426	Genetic primary orthostatic hypotension	521232	Category
2400	Peripheral motor neuropathy-dysautonomia syndrome	182058, 448426	Disease
443236	Postural orthostatic tachycardia syndrome due to NET deficiency	521232, 521236	Disease
603699	Recessive KLHL7-related disorder	71859, 98006	Clinical group
77830	Rare genetic odontologic disease	98053	Category
99792	Dentin dysplasia-sclerotic bones syndrome	77830, 98027	Disease
167762	Rare disease with dentinogenesis imperfecta	77830, 98027	Category
420755	Rare genetic odontal or periodontal disorder	77830	Category
1077	Dental ankylosis	164001, 420755	Malformation syndrome
2024	Hereditary gingival fibromatosis	164001, 183580, 420755	Malformation syndrome
2287	Fused mandibular incisors	164001, 420755	Morphological anomaly
88661	Amelogenesis imperfecta	164001, 420755	Disease
100031	Hypoplastic amelogenesis imperfecta	88661	Clinical subtype
100032	Hypocalcified amelogenesis imperfecta	88661	Clinical subtype
100033	Hypomaturation amelogenesis imperfecta	88661	Clinical subtype
100034	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	88661	Clinical subtype
99797	Anodontia	164001, 420755	Morphological anomaly
99798	Oligodontia	164001, 420755	Morphological anomaly
167759	Hereditary dentin defect	164001, 420755	Category
1653	Dentin dysplasia	167759	Disease
99789	Dentin dysplasia type I	1653	Clinical subtype
99791	Dentin dysplasia type II	1653	Clinical subtype
314721	Atypical dentin dysplasia due to SMOC2 deficiency	1653	Clinical subtype
49042	Dentinogenesis imperfecta	167759	Disease
166260	Dentinogenesis imperfecta type 2	49042	Clinical subtype
166265	Dentinogenesis imperfecta type 3	49042	Clinical subtype
412206	Primary failure of tooth eruption	164001, 420755	Disease
91378	Hereditary angioedema	658, 98053	Clinical group
528623	Hereditary angioedema with C1Inh deficiency	250811, 91378	Disease
100050	Hereditary angioedema type 1	528623	Etiological subtype
100051	Hereditary angioedema type 2	528623	Etiological subtype
528647	Hereditary angioedema with normal C1Inh	91378	Disease
100054	F12-related hereditary angioedema with normal C1Inh	528647	Clinical subtype
537072	PLG-related hereditary angioedema with normal C1Inh	528647	Clinical subtype
599418	Hereditary angioedema with normal C1Inh not related to F12 or PLG variant	528647	Clinical subtype
466084	Genetic otorhinolaryngologic disease	98053	Category
96210	Rare genetic deafness	466084	Category
87884	Rare non-syndromic genetic deafness	68361, 96210	Disease
90636	Rare autosomal recessive non-syndromic sensorineural deafness type DFNB	87884	Etiological subtype
90625	Rare X-linked non-syndromic sensorineural deafness type DFN	87884	Etiological subtype
90635	Rare autosomal dominant non-syndromic sensorineural deafness type DFNA	87884	Etiological subtype
922	Familial nasal acilia	466084, 98036	Disease
88620	Isolated congenital anosmia	466084, 98036	Disease
435603	Genetic otorhinolaryngological malformation	183583, 466084	Category
435606	Genetic nose and cavum anomaly	435603	Category
435609	Genetic larynx anomaly	435603	Category
435612	Genetic tracheal anomaly	435603	Category
98054	Rare genetic cardiac disease	98053	Category
477805	Genetic cardiac malformation	98054	Category
98056	Rare genetic renal disease	98053	Category
93587	Genetic cystic renal disease	93626, 98056	Category
731	Autosomal recessive polycystic kidney disease	101939, 156162, 156604, 399824, 400003, 506213, 93587	Disease
2666	Adult familial nephronophthisis-spastic quadriparesia syndrome	156162, 506213, 93587	Disease
79118	Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome	93587	Disease
401996	Karyomegalic interstitial nephritis	506213, 93587	Disease
140976	RHYNS syndrome	156162, 506213, 716405, 93587	Disease
3156	Senior-Loken syndrome	156162, 156180, 506213, 716405, 93587	Disease
84081	Senior-Boichis syndrome	156162, 506213, 93587	Disease
730	Autosomal dominant polycystic kidney disease	156162, 399824, 400003, 506213, 93587	Disease
34149	Autosomal dominant tubulointerstitial kidney disease	183592, 506213, 93587	Disease
88949	MUC1-related autosomal dominant tubulointerstitial kidney disease	156162, 34149	Clinical subtype
88950	UMOD-related autosomal dominant tubulointerstitial kidney disease	156162, 34149	Clinical subtype
217330	REN-related autosomal dominant tubulointerstitial kidney disease	34149	Clinical subtype
655	Nephronophthisis	156162, 156180, 506213, 93587	Disease
93589	Late-onset nephronophthisis	655	Clinical subtype
93591	Infantile nephronophthisis	655	Clinical subtype
93592	Juvenile nephronophthisis	655	Clinical subtype
93593	Nephropathy secondary to a storage or other metabolic disease	93626, 98056	Category
300547	Autosomal recessive infantile hypercalcemia	183634, 506213, 68415, 93593	Disease
371207	Congenital disorder of glycosylation with nephropathy as a major feature	93593	Category
93614	Hematological disorder with renal involvement	93626, 98056	Category
846	Alpha-thalassemia	275745, 93614	Clinical group
93616	Hemoglobin H disease	846, 95618	Disease
163596	Hemoglobin Bart's fetalis syndrome	846	Disease
848	Beta-thalassemia	275749, 93614, 95618	Clinical group
231214	Beta-thalassemia major	848	Disease
231222	Beta-thalassemia intermedia	848	Disease
715143	Heterozygous beta-thalassemia intermedia with supernumerary alpha-globin gene	848	Disease
156629	Rare genetic cause of hypertension	93618, 98056	Category
526	Liddle syndrome	156629, 506213	Disease
424	Familial hyperthyroidism due to mutations in TSH receptor	156629, 181399, 506213	Disease
757	Pseudohypoaldosteronism type 2	156629, 444916, 506213	Disease
88938	Pseudohypoaldosteronism type 2A	757	Etiological subtype
88939	Pseudohypoaldosteronism type 2B	757	Etiological subtype
88940	Pseudohypoaldosteronism type 2C	757	Etiological subtype
300525	Pseudohypoaldosteronism type 2D	757	Etiological subtype
300530	Pseudohypoaldosteronism type 2E	757	Etiological subtype
320	Apparent mineralocorticoid excess	101954, 156629, 183637, 506213	Disease
88659	Autosomal dominant progressive nephropathy with hypertension	156629, 506213	Disease
88660	Hypertension due to gain-of-function mutations in the mineralocorticoid receptor	156629, 163637, 506213	Disease
235936	Familial hyperaldosteronism	156629, 231641, 371861, 506213	Clinical group
403	Familial hyperaldosteronism type I	235936	Disease
251274	Familial hyperaldosteronism type III	235936	Disease
642671	Familial hyperaldosteronism type IV	235936	Disease
183539	Genetic renal or urinary tract malformation	183530, 98056	Category
357506	Genetic non-syndromic renal or urinary tract malformation	183539	Category
183586	Genetic glomerular disease	98056	Category
567556	Genetic systemic disease with glomerulopathy as a major feature	183586, 567554	Category
342	Familial Mediterranean fever	290839, 324924, 567556	Disease
85450	Hereditary amyloidosis with primary renal involvement	444116, 506210, 567556, 69	Disease
93560	AApoAI amyloidosis	85450	Clinical subtype
93561	ALys amyloidosis	85450	Clinical subtype
93562	AFib amyloidosis	85450	Clinical subtype
238269	AApoAII amyloidosis	85450	Clinical subtype
444092	Autoimmune interstitial lung disease-arthritis syndrome	182228, 264699, 264992, 271870, 280373, 567556	Disease
36412	Hypocomplementemic urticarial vasculitis	156149, 280369, 567556	Disease
567562	Disorder with multisystemic involvement and glomerulopathy	183586, 93548	Category
2613	Nail-patella-like renal disease	567562	Disease
69063	Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization	567562	Disease
84090	Fibronectin glomerulopathy	183586, 93548	Disease
54370	Primary membranoproliferative glomerulonephritis	183586, 93548	Disease
329903	Immunoglobulin-mediated membranoproliferative glomerulonephritis	54370	Clinical subtype
329918	C3 glomerulopathy	54370	Clinical subtype
93571	Dense deposit disease	329918	Histopathological subtype
329931	C3 glomerulonephritis	329918	Histopathological subtype
544590	Collagen-related glomerular basement membrane disease	183586, 93548	Category
564127	Genetic nephrotic syndrome	183586, 567564	Clinical group
839	Congenital nephrotic syndrome, Finnish type	564127	Disease
656	Hereditary steroid-resistant nephrotic syndrome	564127	Disease
183589	Genetic thrombotic microangiopathy	98056	Category
93583	Congenital thrombotic thrombocytopenic purpura	183589, 183654, 54057	Clinical subtype
576742	Genetic hemolytic uremic syndrome	182043, 183589	Category
2134	Atypical hemolytic uremic syndrome	544458, 576742	Disease
544472	Atypical hemolytic uremic syndrome with complement gene abnormality	2134	Etiological subtype
93581	Atypical hemolytic uremic syndrome with anti-factor H antibodies	2134	Etiological subtype
357008	Hemolytic uremic syndrome with DGKE deficiency	544458, 576742	Disease
183592	Genetic renal tubular disease	98056	Category
544628	Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome	181376, 183592, 183625, 276525, 506213, 93603	Disease
528105	Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome	183592, 506213, 93603, 98604	Disease
112	Bartter syndrome	183592, 93603	Disease
93605	Bartter syndrome type 3	112, 506213	Clinical subtype
570371	Bartter syndrome type 5	112	Clinical subtype
620217	Bartter syndrome type 1	112, 506213	Clinical subtype
620220	Bartter syndrome type 2	112, 506213	Clinical subtype
358	Gitelman syndrome	183592, 93603	Disease
3145	Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome	183592, 93603	Disease
2197	Idiopathic hypercalciuria	183592, 506213, 93603	Disease
223	Arginine vasopressin resistance	183592, 93603	Disease
3337	Primary Fanconi renotubular syndrome	183592, 506213, 93603	Disease
756	Pseudohypoaldosteronism type 1	183592, 444916	Disease
171871	Renal pseudohypoaldosteronism type 1	756	Clinical subtype
171876	Generalized pseudohypoaldosteronism type 1	756	Clinical subtype
93606	Nephrogenic syndrome of inappropriate antidiuresis	183592, 93603	Disease
94088	Hereditary renal hypouricemia	183592, 506213, 93603	Malformation syndrome
314822	Primary renal tubular acidosis	183592, 93603	Clinical group
18	Distal renal tubular acidosis	314822, 506213	Disease
93608	Autosomal dominant distal renal tubular acidosis	18	Clinical subtype
93610	Distal renal tubular acidosis with anemia	18, 98364	Clinical subtype
47159	Proximal renal tubular acidosis	314822	Disease
314889	Autosomal dominant proximal renal tubular acidosis	47159	Clinical subtype
1380	Cataract-nephropathy-encephalopathy syndrome	183592, 506213, 522548, 93603, 98641	Malformation syndrome
101435	Rare genetic eye disease	98053	Category
522504	Rare genetic disorder of the visual organs	101435	Category
522536	Structural developmental eye defect of genetic origin	183557, 522504	Category
522538	Rare genetic disorder of the anterior segment of the eye	522504	Category
522556	Rare genetic corneal disorder	522538	Category
522558	Rare genetic disorder with corneal involvement as a major feature	522556	Category
522560	Genetic corneal dystrophy	522558	Category
522562	Genetic superficial corneal dystrophy	522560	Category
98959	Subepithelial mucinous corneal dystrophy	522562, 98625	Disease
98961	Reis-Bücklers corneal dystrophy	522562, 98625	Disease
293375	Grayson-Wilbrandt corneal dystrophy	522562, 98625	Disease
98954	Meesmann corneal dystrophy	522562, 98625	Disease
98955	Lisch epithelial corneal dystrophy	522562, 98625	Disease
98956	Epithelial basement membrane dystrophy	522562, 98625	Disease
98957	Gelatinous drop-like corneal dystrophy	522562, 98625	Disease
98960	Thiel-Behnke corneal dystrophy	522562, 98625	Disease
293381	Epithelial recurrent erosion dystrophy	522562, 98625	Disease
352657	Hereditary benign intraepithelial dyskeratosis	522562, 98625	Disease
98626	Stromal corneal dystrophy	34533, 522560	Category
98972	Central cloudy dystrophy of François	98626	Disease
98962	Granular corneal dystrophy type I	98626	Disease
98963	Granular corneal dystrophy type II	98626	Disease
98964	Lattice corneal dystrophy type I	98626	Disease
98967	Schnyder corneal dystrophy	98626	Disease
98969	Macular corneal dystrophy	98626	Disease
98970	Fleck corneal dystrophy	98626	Disease
98971	Posterior amorphous corneal dystrophy	98626	Disease
101068	Congenital stromal corneal dystrophy	98626	Disease
293462	Pre-Descemet corneal dystrophy	98626	Disease
98627	Posterior corneal dystrophy	34533, 522560	Category
98974	Fuchs endothelial corneal dystrophy	98627	Disease
293603	Congenital hereditary endothelial dystrophy type II	98627	Disease
293621	X-linked endothelial corneal dystrophy	98627	Disease
98628	Syndromic corneal dystrophy	34533, 522560	Category
1661	X-linked corneal dermoid	519286, 522568, 98628	Disease
2741	Ophthalmomandibulomelic dysplasia	98628	Malformation syndrome
522564	Syndromic genetic keratoconus	522558	Category
293936	EDICT syndrome	522564, 98623	Disease
522566	Rare genetic inflammatory/autoimmune corneal disorder	522558	Category
2334	Autosomal dominant keratitis	519290, 522566	Disease
522568	Rare genetic disorder of the pupil	522538	Category
1884	Ectopia lentis-chorioretinal dystrophy-myopia syndrome	519286, 522548, 522568, 716299, 98641	Disease
3374	Unilateral ocular duplication	519286, 522568	Morphological anomaly
183607	Genetic lens and zonula anomaly	522538	Category
522546	Rare genetic disorder with lens opacification	183607	Category
522548	Syndromic genetic cataract	522546	Category
3167	Siegler-Brewer-Carey syndrome	101944, 156610, 522548, 98641	Malformation syndrome
162	Congenital cataract-anterior segment dysgenesis syndrome	522548, 98641	Malformation syndrome
91495	Persistent hyperplastic primary vitreous	522548, 716435, 98641	Disease
98642	Chromosomal anomaly with cataract	522548, 98641	Category
98644	Metabolic disease with cataract	522548, 98641	Category
98646	Renal disease with cataract	522548, 98641	Category
2253	Foveal hypoplasia-presenile cataract syndrome	522548, 98641	Disease
521432	Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome	101941, 156607, 522548, 98641	Disease
98648	Musculoskeletal disease with cataract	522548, 98641	Category
98649	Dentocutaneous disease with cataract	522548, 98641	Category
98650	Craniofacial anomaly with cataract	522548, 98641	Category
263347	MRCS syndrome	522548, 716432, 717336, 98641	Disease
289499	Congenital cataract microcornea with corneal opacity	522548, 98641	Malformation syndrome
1377	Cataract-microcornea syndrome	522548, 98641	Malformation syndrome
2238	Familial isolated hypoparathyroidism	181405, 208593, 522548, 98641	Disease
2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	2238	Clinical subtype
189466	Familial isolated hypoparathyroidism due to impaired PTH secretion	2238	Clinical subtype
2410	Hypergonadotropic hypogonadism-cataract syndrome	181441, 522548, 98641	Malformation syndrome
522550	Lens size anomaly of genetic origin	183557, 183607	Category
522552	Lens position anomaly of genetic origin	183557, 183607	Category
522554	Syndromic genetic ectopia lentis	522552	Category
522540	Anterior segment developmental anomaly of genetic origin	183557, 522538	Category
522542	Rare genetic disorder with conjunctival involvement as a major feature	522538	Category
722	Hypoplasminogenemia	182222, 271870, 522542, 98610	Disease
183616	Genetic neuro-ophthalmological disease	522504	Category
522510	Rare genetic ophthalmic disorder with cranial nerve involvement	183616	Category
64686	Tolosa-Hunt syndrome	519349, 522510	Disease
98685	Rare oculomotor nerve disorder	519349, 522510	Category
440221	Congenital oculomotor nerve palsy	98685	Disease
397618	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome	519349, 522510	Disease
440233	Congenital abducens nerve palsy	519349, 522510	Disease
522512	Rare genetic optic nerve disorder	522510	Category
98671	Hereditary optic neuropathy	519351, 522512	Category
98676	Autosomal recessive isolated optic atrophy	98671	Disease
441434	Syndromic hereditary optic neuropathy	98671	Category
522514	Congenital optic disc excavation of genetic origin	183557, 522512	Category
519337	Disorder with optic nerve compression	519351, 522512	Category
519339	Pseudopapilledema	519351, 522512	Category
313800	Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome	165711, 519339, 716405	Disease
519353	Rare trochlear nerve disorder	519349, 522510	Category
91498	Familial congenital palsy of trochlear nerve	519353	Disease
98686	Congenital trochlear nerve palsy	519353	Disease
522508	Rare genetic ophthalmic disorder with cortical involvement	183616	Category
98688	Oculomotor apraxia	519343, 522508	Category
1125	Ocular motor apraxia, Cogan type	98688	Disease
522516	Rare genetic ocular motility/alignment disorder	183616	Category
522518	Rare genetic disorder with strabismus	522516	Category
522520	Syndromic genetic disorder with strabismus	522518	Category
2968	Leukocyte adhesion deficiency	522520, 674648, 98683	Disease
99842	Leukocyte adhesion deficiency type I	2968	Clinical subtype
98684	Craniostenosis with strabismus	522520, 98683	Category
522522	Rare genetic neuromuscular disorder with ocular motility/alignment anomaly	522516	Category
520820	Progressive external ophthalmoplegia	519347, 522522	Category
522506	Rare genetic brainstem or cerebellar disorder with ophthalmic involvement as a major feature	183616	Category
98687	Supranuclear eye movement disorder	519341, 522506	Category
522524	Rare genetic disorder of the ocular adnexa	522504	Category
522532	Rare genetic disorder of the lacrimal apparatus	522524	Category
98604	Congenital alacrima	522532, 98602	Category
86815	Aplasia of lacrimal and salivary glands	98604	Disease
91416	Isolated congenital alacrima	98604	Disease
522534	Lacrimal drainage system anomaly of genetic origin	183557, 522532	Category
522526	Rare genetic palpebral disorder	183557, 522524	Category
522528	Rare genetic eyelid malposition disorder	522526	Category
522530	Rare genetic disorder with entropion	522528	Category
519296	Rare disorder with pigmented sclera	519298, 522504	Category
522570	Rare genetic disorder of the posterior segment of the eye	522504	Category
522572	Rare genetic retinal disorder	522570	Category
717260	Rare genetic generalized retinal disorder	522572	Category
716364	Rare non-progressive generalized retinal disorder	716358, 717260	Category
716367	Rare isolated non-progressive generalized retinal disorder	716364	Category
215	Congenital stationary night blindness	716367	Clinical group
75382	Oguchi disease	215	Malformation syndrome
714096	Congenital stationary night blindness, Riggs type	215	Disease
714090	Congenital stationary night blindness, Schubert-Bornschein type	215	Disease
714079	Complete congenital stationary night blindness, Schubert-Bornschein type	714090	Clinical subtype
714070	Incomplete congenital stationary night blindness, Schubert-Bornschein type	714090	Clinical subtype
227796	Fundus albipunctatus	215	Disease
99179	Kandori fleck retina	716367	Malformation syndrome
16	Blue cone monochromatism	716367, 98658	Disease
49382	Achromatopsia	716367, 98658	Disease
178333	Åland Islands eye disease	716367, 716419, 717330	Disease
90001	X-linked cone dysfunction syndrome with myopia	716367	Disease
363989	Familial benign flecked retina	716367	Disease
75374	Bradyopsia	716367	Disease
251287	Benign concentric annular macular dystrophy	716367	Disease
75378	Oligocone trichromacy	716367	Disease
716393	Rare disorder with non-progressive generalized retinal disorder as a major feature	716364	Category
717321	Rare genetic progressive generalized retinal disorder	717260	Category
717324	Rare genetic isolated progressive generalized retinal disorder	717321	Category
364055	Severe early-childhood-onset retinal dystrophy	716410, 717324	Disease
209932	Cone dystrophy with supernormal rod response	716410, 717324	Disease
247834	Occult macular dystrophy	716410, 716432, 717324, 717336	Disease
53540	Goldmann-Favre syndrome	716410, 717324	Disease
52427	Retinitis punctata albescens	716410, 717324	Disease
85128	Bothnia retinal dystrophy	716348, 716410, 717317, 717324	Disease
1872	Cone rod dystrophy	156171, 156174, 716410, 717324	Disease
139455	Autosomal recessive bestrophinopathy	716410, 716432, 717324, 717336	Disease
67042	Late-onset retinal degeneration	716410, 716432, 717324, 717336	Disease
827	Stargardt disease	716410, 716432, 717324, 717336	Disease
1871	Progressive cone dystrophy	156171, 716410, 717324	Disease
397758	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	716410, 717324	Disease
716405	Rare disorder with progressive generalized retinal disorder as a major feature	716361, 717321	Category
653709	Cone rod dystrophy-short stature syndrome	716405	Disease
247522	Primary ciliary dyskinesia-retinitis pigmentosa syndrome	101944, 156610, 716405	Disease
1574	Retinal degeneration-nanophthalmos-glaucoma syndrome	716405	Malformation syndrome
717257	Rare genetic predominantly chorioretinal disorder	522572	Category
717308	Rare genetic non-progressive predominantly chorioretinal disorder	717257	Category
717311	Rare genetic isolated non-progressive predominantly chorioretinal disorder	717308	Category
251295	Pigmented paravenous retinochoroidal atrophy	716296, 717311	Disease
75327	North Carolina macular dystrophy	716296, 716419, 717311, 717330	Disease
716299	Rare disorder with non-progressive predominantly chorioretinal disorder as a major feature	716293, 717308	Category
369970	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome	716299	Disease
717314	Rare genetic progressive predominantly chorioretinal disorder	717257	Category
716342	Rare disorder with progressive predominantly chorioretinal disorder as a major feature	716304, 717314	Category
2235	Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome	181387, 716342	Disease
717317	Rare genetic isolated progressive predominantly chorioretinal disorder	717314	Category
86813	Helicoid peripapillary chorioretinal degeneration	716348, 717317	Disease
180	Choroideremia	716348, 717317	Disease
75373	Progressive bifocal chorioretinal atrophy	716348, 717317	Disease
41751	Bietti crystalline dystrophy	716348, 716432, 717317, 717336	Disease
522574	Rare genetic macular disorder	522572	Category
717327	Rare genetic non-progressive predominantly macular disorder	522574	Category
717330	Rare genetic isolated non-progressive predominantly macular disorder	717327	Category
519398	Isolated foveal hypoplasia	716419, 717330	Morphological anomaly
716422	Rare disorder with non-progressive predominantly macular disorder as a major feature	716413, 717327	Category
717333	Rare genetic progressive predominantly macular disorder	522574	Category
717336	Rare genetic isolated progressive predominantly macular disorder	717333	Category
75376	Familial drusen	716432, 717336	Disease
75381	Cystoid macular dystrophy	716432, 717336	Disease
466718	Martinique crinkled retinal pigment epitheliopathy	716432, 717336	Disease
75377	Central areolar choroidal dystrophy	716432, 717336	Disease
319640	Retinal macular dystrophy type 2	716432, 717336	Disease
59181	Sorsby fundus dystrophy	716432, 717336	Disease
1243	Best vitelliform macular dystrophy	716432, 717336	Disease
63454	Pattern dystrophy	716432, 717336	Category
99000	Adult-onset foveomacular vitelliform dystrophy	63454	Disease
99001	Butterfly-shaped pigment dystrophy	63454	Disease
99002	Reticular dystrophy of the retinal pigment epithelium	63454	Disease
99003	Multifocal pattern dystrophy simulating fundus flavimaculatus	63454	Disease
99004	Fundus pulverulentus	63454	Disease
716427	Rare disorder with progressive predominantly macular disorder as a major feature	716416, 717333	Category
522576	Rare genetic retinal vasculopathy	522572	Category
717339	Rare genetic non-progressive retinal vasculopathy	522576	Category
717342	Rare genetic progressive retinal vasculopathy	522576	Category
717345	Rare genetic isolated progressive retinal vasculopathy	717342	Category
329211	Autosomal dominant neovascular inflammatory vitreoretinopathy	716441, 716466, 717345	Disease
717348	Rare genetic disorder with progressive vasculopathy disorder as a major feature	717342	Category
3088	Revesz syndrome	68383, 717348	Malformation syndrome
98668	Vitreoretinopathy	519315, 522572	Category
716435	Rare non-progressive vitreoretinopathy	98668	Category
716438	Rare progressive vitreoretinopathy	98668	Category
716441	Rare isolated progressive vitreoretinopathy	716438	Category
91496	Snowflake vitreoretinal degeneration	716441	Disease
898	Wagner disease	716441	Disease
209867	Autosomal dominant rhegmatogenous retinal detachment	716441	Disease
716446	Rare disorder with progressive vitreoretinopathy disorder as a major feature	716438	Category
522578	Rare genetic disorder involving multiple structures of the eye	522504	Category
359	Pediatric-onset glaucoma of genetic origin	522578	Category
522580	Secondary early-onset glaucoma of genetic origin	359	Category
525677	Genetic congenital malformation of the eye with glaucoma as a major feature	183557, 522580	Category
98638	Rare disease with glaucoma as a major feature	519331, 522580	Category
2536	Microcornea-glaucoma-absent frontal sinuses syndrome	98638	Malformation syndrome
2085	Glaucoma-sleep apnea syndrome	68354, 98638	Disease
98706	Oculocutaneous or ocular albinism	519329, 522578	Category
617449	Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome	519329, 522578	Disease
98618	Rare refraction anomaly	101435, 97966	Category
98619	Rare isolated myopia	98618	Disease
98621	Rare hyperopia and astigmatism	98618	Category
98622	Syndromic hyperopia	98621	Category
98658	Color-vision disease	101435, 97966	Category
88629	Tritanopia	98658	Disease
140162	Inherited cancer-predisposing syndrome	250908, 98053	Category
252206	Melanoma and neural system tumor syndrome	140162, 252190	Disease
231108	Rhabdoid tumor predisposition syndrome	140162	Disease
99749	Kostmann syndrome	140162, 439849	Disease
183422	Polymalformative genetic syndrome with increased risk of developing cancer	140162	Category
166113	Bazex syndrome	183422, 90077	Disease
169079	Cernunnos-XLF deficiency	183422, 480549	Disease
252202	Constitutional mismatch repair deficiency syndrome	140162, 252190, 331240	Disease
276399	Familial multinodular goiter	101955, 140162, 183631	Disease
289539	BAP1-related tumor predisposition syndrome	140162	Disease
293822	MITF-related melanoma and renal cell carcinoma predisposition syndrome	140162	Disease
319328	Inherited renal cancer-predisposing syndrome	140162, 93626	Category
47044	Hereditary papillary renal cell carcinoma	319328	Disease
99880	Hyperparathyroidism-jaw tumor syndrome	2207, 319328	Disease
319462	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations	319328	Disease
422526	Hereditary clear cell renal cell carcinoma	319328	Disease
431149	Combined immunodeficiency due to OX40 deficiency	140162, 480549	Disease
284343	DICER1 tumor-predisposition syndrome	140162, 64742	Disease
661526	MBD4-related tumor predisposition syndrome	140162	Disease
664450	Inherited cancer-predisposing lymphoproliferative syndrome	140162	Category
695172	Combined immunodeficiency due to dimerization defective IKAROS mutation	664450, 695164	Disease
695807	Immunodeficiency-systemic inflammation-lymphoma predisposition syndrome	165655, 169361, 290839, 324933, 664450	Disease
542301	EBV-induced lymphoproliferative disease due to CARMIL2 deficiency	480549, 664450, 664456	Disease
538931	X-linked lymphoproliferative disease due to SAP deficiency	2442, 664450	Disease
540	Familial hemophagocytic lymphohistiocytosis	102005, 664450, 664482	Disease
3261	Autoimmune lymphoproliferative syndrome	169355, 171898, 664450	Disease
268114	RAS-associated autoimmune leukoproliferative disease	169355, 171898, 664450	Disease
306550	FADD-related immunodeficiency	169355, 664450	Disease
619948	Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency	169355, 324933, 664450	Disease
238505	Combined immunodeficiency due to CD27 deficiency	480549, 664450, 664734	Disease
275523	Dianzani autoimmune lymphoproliferative disease	169355, 664450	Disease
538958	EBV-induced lymphoproliferative disease due to CD70 deficiency	480549, 664450, 664456	Disease
538963	Combined immunodeficiency due to ITK deficiency	480549, 664450, 664456	Disease
664711	EBV-induced lymphoproliferative disease due to PRKCD deficiency	664450, 664456	Disease
664699	EBV-induced lymphoproliferative disease due to RASGRP1 deficiency	664450, 664456	Disease
664726	EBV-induced lymphoproliferative disease due to CD137 deficiency	664450, 664456	Disease
664729	EBV-induced lymphoproliferative disease due to TET2 deficiency	664450, 664456	Disease
420573	Severe combined immunodeficiency due to CTPS1 deficiency	397802, 664450, 664456	Disease
317476	XMEN	480549, 664450, 664456	Disease
692812	RAC2-related combined immunodeficiency-bronchiectasis-cancer-predisposing syndrome	101944, 140162, 156610, 506222, 688571	Disease
634518	Neurofibromatosis/schwannomatosis	140162, 252190	Category
634461	Mosaic neurofibromatosis type 1	634518	Disease
634475	Mosaic NF2-related schwannomatosis	634518	Disease
634492	Mosaic schwannomatosis	634518	Disease
589746	Inherited gynecological cancer-predisposing syndrome	140162	Category
619340	Inherited hematologic cancer-predisposing syndrome	140162	Category
71290	Familial platelet disorder with associated myeloid malignancy	477797, 619340, 98456	Disease
585877	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	619340, 99860	Etiological subtype
641375	B-lymphoblastic leukemia/lymphoma with t(17;19)	585877	Etiological subtype
585909	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	585877	Etiological subtype
585918	B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)	585877	Etiological subtype
585929	B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)	585877	Etiological subtype
585936	B-lymphoblastic leukemia/lymphoma with hyperdiploidy	585877	Etiological subtype
585942	B-lymphoblastic leukemia/lymphoma with hypodiploidy	585877	Etiological subtype
585948	B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)	585877	Etiological subtype
585956	B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)	585877	Etiological subtype
641372	B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)	585877	Etiological subtype
524	Li-Fraumeni syndrome	252190, 314749, 619340	Disease
488647	DDX41-related hematologic malignancy predisposition syndrome	619340	Disease
156601	Rare genetic hepatic disease	98053	Category
2312	Transient familial neonatal hyperbilirubinemia	156601, 57146	Disease
79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	101938, 156601, 331217	Disease
101940	Rare metabolic liver disease	156601, 57146	Category
284385	Familial intrahepatic cholestasis	101940	Category
371157	Congenital disorder of glycosylation with hepatic involvement	101940	Category
156604	Genetic parenchymatous liver disease	156601	Category
440427	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency	100049, 101939, 156604	Disease
464724	Fever-associated acute infantile liver failure syndrome	101939, 156604	Disease
300293	Transient infantile hypertriglyceridemia and hepatosteatosis	101939, 156604	Disease
370088	Acute infantile liver failure-multisystemic involvement syndrome	101939, 156604	Disease
391366	Growth retardation-mild developmental delay-chronic hepatitis syndrome	101939, 156604	Disease
156607	Genetic biliary tract disease	156601	Category
2924	Isolated polycystic liver disease	101941, 156607, 506210	Malformation syndrome
69663	Low phospholipid-associated cholelithiasis	101941, 156607	Disease
480520	Caroli syndrome	101941, 156607, 506210	Malformation syndrome
480556	Isolated neonatal sclerosing cholangitis	156607, 447771	Disease
276405	Hyperbiliverdinemia	156601, 57146	Disease
156610	Rare genetic respiratory disease	98053	Category
2903	Familial spontaneous pneumothorax	101944, 156610	Disease
244	Primary ciliary dyskinesia	101944, 156171, 156610, 399813	Disease
3471	Young syndrome	101944, 156610, 399824, 400003	Disease
538	Lymphangioleiomyomatosis	156610, 264740	Disease
422	Idiopathic/heritable pulmonary arterial hypertension	156610, 182090	Disease
275766	Idiopathic pulmonary arterial hypertension	422	Etiological subtype
275777	Heritable pulmonary arterial hypertension	422	Etiological subtype
60025	Pulmonary alveolar microlithiasis	156610, 97955	Disease
60033	Idiopathic bronchiectasis	101944, 156610	Disease
183622	Genetic respiratory malformation	156610	Category
264992	Genetic interstitial lung disease	156610	Category
100049	Primary interstitial lung disease specific to childhood due to pulmonary surfactant protein anomalies	264670, 264992	Category
217563	Neonatal acute respiratory distress syndrome	100049	Disease
264675	Hereditary pulmonary alveolar proteinosis	100049, 674896	Disease
440402	Interstitial lung disease due to ABCA3 deficiency	100049	Disease
572428	Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia	100049, 290839	Disease
210122	Congenital alveolar capillary dysplasia	264683, 264992	Disease
217566	Chronic respiratory distress with surfactant metabolism deficiency	264930, 264992	Disease
440392	Interstitial lung disease due to SP-C deficiency	264930, 264992	Disease
431353	Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis	156610, 71198	Category
31837	Pulmonary venoocclusive disease	431353	Disease
199241	Pulmonary capillary hemangiomatosis	431353	Disease
156619	Rare genetic urogenital disease	98053	Category
156622	Genetic urogenital tract malformation	156619	Category
325690	Genetic difference of sex development	156619, 156638, 183530	Category
325697	Genetic 46,XX difference of sex development	325690	Category
325706	Genetic 46,XY difference of sex development	325690	Category
325713	Genetic 46,XY difference of sex development of endocrine origin	325706	Category
156638	Rare genetic endocrine disease	98053	Category
485382	Rare genetic premature ovarian failure	156638, 202940	Category
436182	Microcephalic primordial dwarfism-insulin resistance syndrome	181368, 485382, 95710	Malformation syndrome
642691	Fragile X-associated primary ovarian insufficiency	485382, 95710	Disease
785	Estrogen resistance syndrome	156638, 180208, 202940, 399831, 400011, 97978	Disease
77828	Genetic obesity	156638, 183573, 97978	Category
98267	Genetic non-syndromic obesity	77828	Disease
66628	Obesity due to congenital leptin deficiency	181390, 98267	Etiological subtype
179490	Obesity due to congenital leptin resistance	98267	Etiological subtype
71526	Obesity due to pro-opiomelanocortin deficiency	179490	Etiological subtype
71528	Obesity due to prohormone convertase I deficiency	179490, 181390	Etiological subtype
71529	Obesity due to melanocortin 4 receptor deficiency	179490	Etiological subtype
179494	Obesity due to leptin receptor gene deficiency	179490, 181390	Etiological subtype
329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	98267	Etiological subtype
369873	Obesity due to SIM1 deficiency	98267	Etiological subtype
397615	Obesity due to CEP19 deficiency	98267	Etiological subtype
156643	Genetic endocrine growth disease	156638	Category
418	Congenital adrenal hyperplasia	101960, 156643, 181412, 90692	Clinical group
54595	Craniopharyngioma	156643, 90692, 95503, 98062	Disease
95488	Non-acquired pituitary hormone deficiency	101957, 156643, 90692	Category
631	Non-acquired isolated growth hormone deficiency	95488	Disease
629	Short stature due to growth hormone qualitative anomaly	631	Clinical subtype
231662	Isolated growth hormone deficiency type IA	631	Clinical subtype
231671	Isolated growth hormone deficiency type IB	631	Clinical subtype
231679	Isolated growth hormone deficiency type II	631	Clinical subtype
231692	Isolated growth hormone deficiency type III	631	Clinical subtype
632	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia	229720, 231692	Clinical subtype
684247	Isolated growth hormone deficiency type IV	631	Clinical subtype
467	Non-acquired combined pituitary hormone deficiency	95488	Category
95495	Disease associated with non-acquired combined pituitary hormone deficiency	467	Category
85442	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	95495	Disease
293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	696870, 95495	Disease
178025	Non-acquired combined pituitary hormone deficiencies without extrapituitary malformations	467	Category
90695	Non-acquired panhypopituitarism	178025, 181390	Disease
95494	Combined pituitary hormone deficiencies, genetic forms	178025, 181390	Disease
90674	Isolated thyroid-stimulating hormone deficiency	226298, 95488	Disease
174590	Congenital hypogonadotropic hypogonadism	180208, 202940, 399572, 399983, 95488	Category
181387	Rare disorder with multisystemic involvement and congenital hypogonadotropic hypogonadism	174590	Category
2230	Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome	181387	Disease
2560	Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome	181387	Malformation syndrome
181390	Endocrinopathy with congenital hypogonadotropic hypogonadism as a major feature	174590, 399839	Category
95702	X-linked adrenal hypoplasia congenita	181390, 595337	Disease
238666	Isolated congenital hypogonadotropic hypogonadism	174590, 399839	Disease
478	Kallmann syndrome	238666	Clinical subtype
432	Normosmic congenital hypogonadotropic hypogonadism	238666	Clinical subtype
52901	Isolated follicle stimulating hormone deficiency	174590, 400011	Disease
199296	Congenital isolated ACTH deficiency	95488	Disease
314811	Short stature due to GHSR deficiency	95488	Disease
95709	Rare acquired premature ovarian failure	156643, 180208, 90692	Category
3143	Autoimmune polyendocrinopathy type 2	101963, 282196, 399853, 95709	Disease
435554	Genetic precocious puberty	156643	Category
178040	Rare peripheral precocious puberty	435554, 95708	Category
3000	Familial peripheral male-limited precocious puberty	178040	Disease
178345	Aromatase excess syndrome	178040, 435564, 650187	Disease
650182	Genetic central precocious puberty	435554	Clinical group
650097	Genetic central precocious puberty in male	650087, 650182	Clinical subtype
650077	Genetic central precocious puberty in female	650070, 650182	Disease
181393	Growth hormone insensitivity syndrome	156643, 183628, 90692	Category
633	Laron syndrome	181393	Disease
140941	Short stature due to primary acid-labile subunit deficiency	181393	Disease
314802	Short stature due to partial GHR deficiency	181393	Disease
226292	Permanent congenital hypothyroidism	156643, 442	Category
177107	Syndromic hypothyroidism	226292	Category
2349	Muscular pseudohypertrophy-hypothyroidism syndrome	177107	Disease
88643	Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome	177107	Disease
226295	Primary congenital hypothyroidism	226292	Clinical group
95711	Congenital hypothyroidism due to developmental anomaly	226295	Category
95712	Thyroid ectopia	95711	Morphological anomaly
95713	Athyreosis	95711	Morphological anomaly
95719	Thyroid hemiagenesis	95711, 95718	Morphological anomaly
95720	Thyroid hypoplasia	95711, 95718	Morphological anomaly
95714	Primary congenital hypothyroidism without thyroid developmental anomaly	226295	Category
90673	Hypothyroidism due to TSH receptor mutations	95714	Disease
95717	Idiopathic congenital hypothyroidism	95714	Disease
226298	Central congenital hypothyroidism	226292	Clinical group
99832	Resistance to thyrotropin-releasing hormone syndrome	226298	Disease
226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	226298	Disease
238670	Isolated thyrotropin-releasing hormone deficiency	226298	Disease
329235	X-linked central congenital hypothyroidism with late-onset testicular enlargement	226298	Disease
181441	Rare disorder with hypergonadotropic hypogonadism	156638, 399685, 97978	Category
2232	Primary hypergonadotropic hypogonadism-partial alopecia syndrome	181441	Disease
2558	Mikati-Najjar-Sahli syndrome	181441	Malformation syndrome
183625	Rare genetic diabetes mellitus	156638	Category
552	MODY	181376, 183625	Disease
224	Neonatal diabetes mellitus	101952, 183625	Category
181368	Rare insulin-resistance syndrome	101952, 183625	Category
2297	Insulin-resistance syndrome type A	181368, 399853, 400022	Disease
2298	Insulin-resistance syndrome type B	181368	Disease
66518	Short fifth metacarpals-insulin resistance syndrome	181368	Disease
436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	181368	Disease
183628	Rare genetic hypothalamic or pituitary disease	156638	Category
101957	Pituitary deficiency	181384, 183628	Category
30925	Hereditary arginine vasopressin deficiency	101957, 178029	Clinical subtype
300373	X-linked acrogigantism	183628, 715120	Disease
397685	Familial hyperprolactinemia	183628, 399572, 399831, 399983, 400011, 715120	Disease
183631	Rare genetic thyroid disease	156638	Category
181396	Rare hypothyroidism	101955, 183631	Category
442	Congenital hypothyroidism	181396, 90692	Category
226316	Genetic transient congenital hypothyroidism	238699, 442	Disease
181399	Rare hyperthyroidism	101955, 183631	Category
99819	Familial gestational hyperthyroidism	163637, 181399	Disease
596426	Syndrome of reduced sensitivity to thyroid hormone	101955, 183631	Clinical group
566243	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta	596426	Disease
566231	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha	596426	Disease
171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency	596426	Disease
597939	Euthyroid dysprealbuminemic hyperthyroxinemia	596426	Disease
183634	Rare genetic parathyroid disease and phosphocalcic metabolism disorder	156638	Category
208593	Genetic hypoparathyroidism	183634	Category
181402	Syndrome with hypoparathyroidism	181405, 208593	Category
208596	Genetic hyperparathyroidism	183634	Category
2207	Familial primary hyperparathyroidism	100090, 181408, 208596	Clinical group
99879	Familial isolated hyperparathyroidism	2207	Disease
183637	Rare genetic adrenal disease	156638	Category
427	Familial hypoaldosteronism	181419, 183637	Disease
556030	Early-onset familial hypoaldosteronism	427	Clinical subtype
556037	Late-onset familial hypoaldosteronism	427	Clinical subtype
2976	Pseudoleprechaunism syndrome, Patterson type	183637, 314749	Malformation syndrome
101960	Genetic chronic primary adrenal insufficiency	101959, 183637	Category
977	Adrenomyodystrophy	101960	Disease
289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	101960	Disease
595337	Adrenal hypoplasia congenita	101960	Clinical group
181412	Adrenogenital syndrome	101954, 183637	Category
168588	Hyperandrogenism due to cortisone reductase deficiency	180208, 181412, 202940	Malformation syndrome
199247	Corticosteroid-binding globulin deficiency	101954, 183637, 250811	Disease
371861	Genetic hyperaldosteronism	183637	Category
369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	231637, 371861	Disease
189427	Cushing syndrome due to bilateral macronodular adrenocortical disease	183637, 399584, 399994, 647758	Disease
183643	Genetic polyendocrinopathy	156638	Category
1227	Bangstad syndrome	101956, 183643	Malformation syndrome
276525	Familial hyperinsulinism	156638, 443095	Category
263458	Hyperinsulinism due to INSR deficiency	276525	Disease
276608	Non-insulinoma pancreatogenous hypoglycemia syndrome	276525	Disease
158300	Rare genetic hematologic disease	98053	Category
330041	Hemoglobin M disease	158300, 707993	Disease
86816	Congenital analbuminemia	158300, 97992	Disease
183651	Rare constitutional anemia	158300	Category
466066	Genetic hemoglobinopathy	183651	Category
707792	Unstable gamma globin chain variant disease	466066, 68364	Disease
715147	Low oxygen affinity hemoglobin disease	466066, 68364	Disease
715154	Low oxygen affinity alpha chain hemoglobin disease	715147	Etiological subtype
715157	Low oxygen affinity beta chain hemoglobin disease	715147	Etiological subtype
280615	Low oxygen affinity gamma chain hemoglobin disease	715147	Etiological subtype
707786	Thalassemia	466066, 68364	Category
2133	Hemoglobin E disease	707786	Disease
275745	Alpha-thalassemia and related disorders	707786	Category
707789	Unstable alpha globin chain variant disease	275745	Disease
232288	Syndrome with alpha-thalassemia as a major feature	275745	Category
231401	Alpha-thalassemia-myelodysplastic syndrome	232288	Disease
275749	Beta-thalassemia and related disorders	707786	Category
231230	Beta-thalassemia associated with another hemoglobin anomaly	275749	Category
231242	Hemoglobin C-beta-thalassemia syndrome	231230	Disease
231249	Hemoglobin E-beta-thalassemia syndrome	231230	Disease
715128	Hemoglobin E-beta-thalassemia major	231249	Clinical subtype
715125	Hemoglobin E-beta-thalassemia intermedia	231249	Clinical subtype
330032	Hemoglobin Lepore-beta-thalassemia syndrome	231230	Disease
715135	Hemoglobin Lepore-beta-thalassemia intermedia	330032	Clinical subtype
715140	Hemoglobin Lepore-beta-thalassemia major	330032	Clinical subtype
231386	Syndromic beta-thalassemia	275749	Category
231393	Beta-thalassemia-X-linked thrombocytopenia syndrome	231386	Disease
231237	Delta-beta-thalassemia	275749	Disease
231226	Unstable beta globin chain variant disease	275749	Disease
46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	275749	Disease
2132	Hemoglobin C disease	466066, 68364	Disease
90039	Hemoglobin D disease	466066, 68364	Disease
275752	Sickle cell disease	466066, 68364	Category
251359	Sickle cell-beta-thalassemia disease	275752	Disease
695140	Sickle cell-beta zero-thalassemia	251359	Etiological subtype
695147	Sickle cell-beta plus-thalassemia	251359	Etiological subtype
251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	275752	Disease
251365	Sickle cell S-C disease	275752	Disease
700085	Sickle cell disease due to hemoglobin S and a non-S/non-C hemoglobin variant	275752	Disease
700107	Sickle cell S-other specified hemoglobin variant	700085	Clinical subtype
251370	Sickle cell S-D Punjab disease	700085	Clinical subtype
251375	Sickle cell S-E disease	700085	Clinical subtype
700090	Sickle cell S-O Arab disease	700085	Clinical subtype
699822	Sickle cell S-Lepore disease	700085	Clinical subtype
700111	Homozygous hemoglobin O Arab disease	466066, 68364	Disease
98362	Constitutional sideroblastic anemia	1047, 183651	Category
260305	Autosomal recessive sideroblastic anemia	98362	Disease
300298	Severe congenital hypochromic anemia with ringed sideroblasts	98360, 98362	Disease
369861	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	696870, 98362	Disease
68383	Rare constitutional aplastic anemia	182040, 183651	Category
3319	Congenital amegakaryocytic thrombocytopenia	477797, 68383	Disease
314399	Autosomal dominant aplasia and myelodysplasia	68383	Disease
397692	Hereditary isolated aplastic anemia	68383	Disease
401764	Pancytopenia-developmental delay syndrome	68383	Disease
182043	Rare constitutional hemolytic anemia	183651, 98363	Category
98364	Rare constitutional hemolytic anemia due to a red cell membrane anomaly	182043	Category
822	Hereditary spherocytosis	98364	Disease
288	Hereditary elliptocytosis	98364	Disease
98365	Hereditary stomatocytosis	98364	Clinical group
3203	Overhydrated hereditary stomatocytosis	98365	Disease
3202	Dehydrated hereditary stomatocytosis	98365	Disease
71275	Rh deficiency syndrome	98365	Disease
90044	Familial pseudohyperkalemia	98365	Disease
98868	Southeast Asian ovalocytosis	98365	Disease
398088	Hereditary cryohydrocytosis with normal stomatin	98365	Disease
98366	Constitutional hemolytic anemia due to acanthocytosis	98364	Category
98369	Rare constitutional hemolytic anemia due to an enzyme disorder	182043	Category
98370	Hemolytic anemia due to hexose monophosphate shunt and glutathione metabolism anomalies	98369	Category
90030	Hemolytic anemia due to glutathione reductase deficiency	98370	Disease
99135	6-phosphogluconate dehydrogenase deficiency	98370	Disease
98372	Hemolytic anemia due to a disorder of glycolytic enzymes	98369	Category
90031	Non-spherocytic hemolytic anemia due to hexokinase deficiency	98372	Disease
466026	Class I glucose-6-phosphate dehydrogenase deficiency	98372	Disease
98374	Hemolytic anemia due to an erythrocyte nucleotide metabolism disorder	98369	Category
86817	Hemolytic anemia due to adenylate kinase deficiency	98374	Disease
248296	Constitutional deficiency anemia	183651, 248293	Category
98360	Constitutional anemia due to iron metabolism disorder	248296	Category
209981	IRIDA syndrome	98360	Disease
98396	Constitutional megaloblastic anemia due to vitamin B12 metabolism disorder	248296	Category
98408	Constitutional megaloblastic anemia due to folate metabolism disorder	248296	Category
98415	Vitamin B12- and folate-independent constitutional megaloblastic anemia	248296	Category
293830	Constitutional dyserythropoietic anemia	108997, 183651	Category
85	Congenital dyserythropoietic anemia	293830	Clinical group
67044	Thrombocytopenia with congenital dyserythropoietic anemia	220452, 85	Disease
98869	Congenital dyserythropoietic anemia type I	85	Disease
98870	Congenital dyserythropoietic anemia type III	85	Disease
293825	Congenital dyserythropoietic anemia type IV	85	Disease
363727	X-linked dyserythropoietic anemia with abnormal platelets and neutropenia	220452, 85	Disease
183654	Rare genetic coagulation disorder	158300	Category
68334	Rare hemorrhagic disorder due to a constitutional coagulation factors defect	183654, 248315	Category
600691	Combined deficiency of factor VII and factor X	68334	Disease
448	Hemophilia	68334	Clinical group
98878	Hemophilia A	448	Disease
169802	Severe hemophilia A	98878	Clinical subtype
169805	Moderate hemophilia A	98878	Clinical subtype
169808	Mild hemophilia A	98878	Clinical subtype
177926	Bleeding disorder in hemophilia A carriers	98878	Clinical subtype
98879	Hemophilia B	448	Disease
169793	Severe hemophilia B	98879	Clinical subtype
169796	Moderate hemophilia B	98879	Clinical subtype
169799	Mild hemophilia B	98879	Clinical subtype
177929	Bleeding disorder in hemophilia B carriers	98879	Clinical subtype
617930	Hemophilia B Leyden	98879	Clinical subtype
326	Congenital factor V deficiency	68334	Disease
335	Congenital fibrinogen deficiency	68334	Disease
98880	Familial afibrinogenemia	335	Clinical subtype
98881	Familial dysfibrinogenemia	335	Clinical subtype
101041	Familial hypofibrinogenemia	335	Clinical subtype
248408	Familial hypodysfibrinogenemia	335	Clinical subtype
79	Congenital alpha2-antiplasmin deficiency	250811, 68334	Disease
331	Congenital factor XIII deficiency	68334	Disease
903	Von Willebrand disease	68334	Disease
166078	Von Willebrand disease type 1	903	Clinical subtype
166081	Von Willebrand disease type 2	903	Clinical subtype
166084	Von Willebrand disease type 2A	166081	Clinical subtype
166087	Von Willebrand disease type 2B	166081	Clinical subtype
166090	Von Willebrand disease type 2M	166081	Clinical subtype
166093	Von Willebrand disease type 2N	166081	Clinical subtype
166096	Von Willebrand disease type 3	903	Clinical subtype
329	Congenital factor XI deficiency	68334	Disease
465	Congenital plasminogen activator inhibitor type 1 deficiency	250808, 68334	Disease
483	Congenital high-molecular-weight kininogen deficiency	68334	Disease
749	Congenital prekallikrein deficiency	68334	Disease
35909	Combined deficiency of factor V and factor VIII	68334	Disease
169826	Congenital vitamin K-dependent coagulation factors deficiency	68334	Category
327	Congenital factor VII deficiency	169826	Disease
325	Congenital factor II deficiency	169826	Disease
328	Congenital factor X deficiency	169826	Disease
178396	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation	250808, 68334	Disease
599519	Factor V short isoforms-related bleeding disorder	68334	Disease
391320	East Texas bleeding disorder	599519	Etiological subtype
599579	Factor V Amsterdam bleeding disorder	599519	Etiological subtype
600194	Factor V Atlanta bleeding disorder	599519	Etiological subtype
436169	Thrombomodulin-related bleeding disorder	68334	Disease
71202	Rare hemorrhagic disorder due to a constitutional platelet anomaly	183654, 248326	Category
275729	Rare hemorrhagic disorder due to a constitutional thrombocytopenia	71202	Category
477794	Syndromic constitutional thrombocytopenia	275729	Category
652522	Periodic fever-immunodeficiency-thrombocytopenia syndrome	290839, 324924, 331184, 477794	Disease
480851	Hereditary thrombocytopenia with early-onset myelofibrosis	477794, 98274	Disease
220448	Macrothrombocytopenia with mitral valve insufficiency	477794	Disease
734	Alpha delta granule deficiency	477794	Disease
98456	Dense granule disease	477794	Category
477797	Isolated constitutional thrombocytopenia	275729	Category
220452	Isolated hereditary giant platelet disorder	477797	Category
438207	Severe autosomal recessive macrothrombocytopenia	220452	Disease
274	Bernard-Soulier syndrome	220452	Disease
140957	Autosomal dominant macrothrombocytopenia	220452	Disease
98455	Alpha granule disease	220452	Category
721	Gray platelet syndrome	98455	Disease
220436	Quebec platelet disorder	98455	Disease
370127	Medich giant platelet syndrome	98455	Disease
370131	White platelet syndrome	98455	Disease
268322	Hereditary thrombocytopenia with normal platelets	477797	Disease
852	X-linked thrombocytopenia with normal platelets	268322	Etiological subtype
168629	Autosomal thrombocytopenia with normal platelets	268322	Etiological subtype
220443	Bleeding diathesis due to thromboxane synthesis deficiency	477797	Disease
248340	Isolated delta-storage pool disease	477797	Disease
466806	Autosomal dominant thrombocytopenia with platelet secretion defect	477797	Disease
566192	Congenital autosomal recessive small-platelet thrombocytopenia	477797	Disease
275736	Rare hemorrhagic disorder due to a qualitative platelet defect	71202	Category
849	Glanzmann thrombasthenia	275736	Disease
806	Scott syndrome	275736	Disease
36355	Bleeding disorder due to P2Y12 defect	275736	Disease
52530	Pseudo-von Willebrand disease	275736	Disease
73271	Bleeding diathesis due to a collagen receptor defect	275736	Disease
98885	Bleeding diathesis due to glycoprotein VI deficiency	73271	Etiological subtype
98886	Bleeding diathesis due to integrin alpha2-beta1 deficiency	73271	Etiological subtype
420566	Bleeding disorder due to CalDAG-GEFI deficiency	275736	Disease
248361	Rare thrombotic disorder due to a constitutional coagulation factors defect	183654, 248358	Category
330	Congenital factor XII deficiency	248361	Disease
3324	Familial thrombomodulin anomalies	248361	Disease
217454	Rare hereditary thrombophilia	248361, 399185	Clinical group
743	Severe hereditary thrombophilia due to congenital protein S deficiency	217454	Disease
745	Severe hereditary thrombophilia due to congenital protein C deficiency	217454	Disease
82	Hereditary thrombophilia due to congenital antithrombin deficiency	217454, 250811	Disease
217467	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	217454	Disease
248401	Rare thrombotic disorder due to a constitutional platelet anomaly	183654, 248368	Category
71493	Familial thrombocytosis	248401	Disease
250165	Genetic polycythemia	158300	Category
90042	Primary familial polycythemia	250165, 98427	Disease
98428	Secondary polycythemia	250165, 98427	Category
238536	Congenital secondary polycythemia	98428	Category
238557	Chuvash erythrocytosis	238536	Disease
247378	Autosomal recessive secondary polycythemia not associated with VHL gene	238536	Disease
247511	Autosomal dominant secondary polycythemia	238536	Disease
165652	Rare genetic gastroenterological disease	98053	Category
165655	Genetic intestinal disease	165652	Category
363300	Genetic intractable diarrhea of infancy	165655	Category
363306	Genetic intestinal disease due to fat malabsorption	165655	Category
363314	Genetic intestinal polyposis	165655	Category
238569	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome	165655, 169361, 182231, 619249	Disease
529977	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome	165655, 169361, 182231, 271870	Disease
529980	Immune dysregulation-inflammatory bowel disease- recurrent sinopulmonary infections syndrome	165655, 169361	Disease
538934	X-linked lymphoproliferative disease due to XIAP deficiency	165655, 2442	Disease
676125	X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency	165655, 169361, 324936	Disease
165658	Genetic gastro-esophageal disease	165652	Category
165661	Genetic pancreatic disease	165652	Category
183524	Rare genetic bone disease	98053	Category
93448	Lysosomal storage disease with skeletal involvement	183524, 93419	Category
235832	Congenital vascular bone syndrome	183524, 93419	Clinical group
364803	Rare bone disease related to a common gene or pathway defect	183524	Category
674499	Proteoglycan-related bone disorder	364803	Category
251262	Familial osteochondritis dissecans	399158, 399380, 674499	Disease
93420	FGFR3-related chondrodysplasia	364803	Category
93421	Type 2 collagen-related bone disorder	364803	Category
2380	Legg-Calvé-Perthes disease	399319, 93421	Disease
86820	Familial avascular necrosis of femoral head	399302, 399388, 93421	Disease
93422	Type 11 collagen-related bone disorder	364803	Category
93423	Sulfation-related bone disorder	364803	Category
93425	Filamin-related bone disorder	364803	Category
364820	TRPV4-related bone disorder	364803	Category
399380	Osteonecrosis of genetic origin	183524	Category
399388	Avascular necrosis of genetic origin	399380	Category
399185	Rare hereditary disease with avascular necrosis	399169, 399388	Category
399391	Osteochondrosis of genetic origin	399380	Category
3314	Thiemann disease, familial form	399319, 399391	Disease
404568	Dysostosis of genetic origin	183524, 404584	Category
404571	Dysostosis of genetic origin with limb anomaly as a major feature	404568	Category
404574	Genetic syndrome with limb reduction defects	404571, 404577	Category
183530	Rare genetic developmental defect during embryogenesis	98053	Category
183533	Genetic multiple congenital anomalies/dysmorphic syndrome	183530	Category
471383	Genetic lethal multiple congenital anomalies/dysmorphic syndrome	183533	Category
330206	Genetic multiple congenital anomalies/dysmorphic syndrome without intellectual disability	183533	Category
183536	Genetic congenital limb malformation	183530	Category
404577	Genetic syndrome with limb malformations as a major feature	183536	Category
183542	Genetic cranial malformation	183530	Category
183545	Genetic digestive tract malformation	183530	Category
371445	Genetic syndromic esophageal malformation	88993	Category
183548	Genetic visceral malformation of the liver, biliary tract, pancreas or spleen	183530	Category
183554	Genetic respiratory or mediastinal malformation	183530	Category
183557	Genetic developmental defect of the eye	183530	Category
183570	Genetic malformation syndrome with short stature	183530	Category
183573	Genetic overgrowth/obesity syndrome	183530	Category
183576	Genetic branchial arch or oral-acral syndrome	183530	Category
183580	Genetic malformation syndrome with odontal and/or periodontal component	183530	Category
183583	Genetic head and neck malformation	183530	Category
363294	Genetic syndromic Pierre Robin syndrome	156237	Category
414726	Genetic facial cleft	183583	Category
211240	Genetic vascular anomaly	183530	Category
459526	Rare genetic capillary malformation	211240	Category
459537	Genetic complex vascular malformation with associated anomalies	211240	Category
459543	Rare genetic vascular tumor	211240	Category
459548	Rare genetic venous malformation	211240	Category
271853	Genetic cardiac anomaly	183530	Category
363245	Genetic progeroid syndrome	183530	Category
404584	Rare genetic bone development disorder	183530	Category
183731	Rare genetic gynecological and obstetrical diseases	98053	Category
145	Hereditary breast and/or ovarian cancer syndrome	180257, 183731	Disease
64739	Ovarian hyperstimulation syndrome	180303, 183731	Disease
180188	Isolated congenital breast hypoplasia/aplasia	180173, 183731	Morphological anomaly
202940	Anomaly of puberty or/and menstrual cycle of genetic origin	183731	Category
435564	Genetic precocious puberty in female	202940	Category
325665	Genetic difference of sex development of gynecological interest	183731	Category
98074	Gonadal dysgenesis of gynecological interest	325620, 325665	Category
325632	46,XY difference of sex development of gynecological interest	325620, 325665	Category
325638	Syndrome with difference of sex development of gynecological interest	325620, 325665	Category
183770	Rare genetic immune disease	98053	Category
101997	Primary immunodeficiency	183770, 98004	Category
101988	Primary immunodeficiency due to a defect in innate immunity	101997	Category
101985	Quantitative and/or qualitative congenital phagocyte defect	101988	Category
101987	Congenital neutropenia	101985, 506219	Category
2686	Cyclic neutropenia	101987	Disease
42738	Severe congenital neutropenia	101987	Clinical group
486	Autosomal dominant severe congenital neutropenia	42738	Disease
86788	X-linked severe congenital neutropenia	42738	Disease
439849	Autosomal recessive severe congenital neutropenia	42738	Category
331176	Severe congenital neutropenia due to G6PC3 deficiency	331184, 439849	Disease
420699	Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency	439849	Disease
420702	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	439849	Disease
423384	Severe congenital neutropenia due to JAGN1 deficiency	331184, 439849	Disease
331184	Syndrome with congenital neutropenia as a major feature	101987	Category
675628	TLR8-related inflammation-severe neutropenia-bone marrow failure-lymphoproliferation syndrome	331184, 98290	Disease
2390	Lichtenstein syndrome	331184	Disease
90023	Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency	331184	Disease
369852	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	331184	Disease
169142	Recurrent infections due to specific granule deficiency	331184	Disease
183681	Congenital functional phagocyte defect	101985	Category
674896	Non-syndromic congenital phagocyte functional defect	183681	Category
228423	GATA2 deficiency spectrum	674896	Disease
183707	Infantile LAD-like disease due to RAC2 deficiency	674896	Disease
2587	Myeloperoxidase deficiency	674896	Disease
619941	Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency	674896	Disease
674648	Syndrome with congenital phagocyte functional defect as a major feature	183681	Category
447740	Aggressive periodontitis	674648	Disease
101992	Immunodeficiency due to a complement cascade protein anomaly	101988	Category
459345	Immunodeficiency due to a complement cascade component deficiency	101992	Category
331187	Immunodeficiency due to MASP-2 deficiency	459345	Disease
331190	Immunodeficiency due to ficolin3 deficiency	459345	Disease
169147	Immunodeficiency due to a classical component pathway complement deficiency	459345	Disease
280133	Complement component 3 deficiency	459345	Disease
169150	Immunodeficiency due to a late component of complement deficiency	459345	Disease
459348	Immunodeficiency due to a complement regulatory deficiency	101992	Category
2966	Properdin deficiency	459348	Disease
169467	Recurrent Neisseria infections due to factor D deficiency	459348	Disease
200418	Immunodeficiency with factor I anomaly	459348	Disease
200421	Immunodeficiency with factor H anomaly	459348	Disease
183710	Genetic susceptibility to infections due to particular pathogens	101988	Category
324294	T-cell immunodeficiency with epidermodysplasia verruciformis	183710, 480549	Disease
1930	Herpes simplex virus encephalitis	166490, 183710, 98252, 98542	Disease
748	Mendelian susceptibility to mycobacterial diseases	183710	Clinical group
319535	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency	748	Category
99898	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency	319535	Disease
319547	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	319535	Disease
319552	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	319535	Disease
319558	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	319535	Disease
319563	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	319535, 477647, 481671	Disease
699618	Severe mendelian susceptibility to mycobacterial diseases due to complete IFNG deficiency	319535	Disease
477857	Mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	319535	Disease
699615	Severe mendelian susceptibility to mycobacterial diseases due to complete IRF1 deficiency	319535	Disease
319539	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency	748	Category
319569	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	319539	Disease
319574	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	319539	Disease
331226	Susceptibility to infection due to TYK2 deficiency	319539	Disease
574957	Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency	319539	Disease
319543	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency	748	Category
319581	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	319543	Disease
319589	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	319543	Disease
319595	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	319543	Disease
319600	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	319543	Disease
319605	X-linked mendelian susceptibility to mycobacterial diseases	748	Disease
70592	Transient predisposition to invasive pyogenic bacterial infection	183710	Disease
391311	Susceptibility to viral and mycobacterial infections due to STAT1 deficiency	183710	Disease
457088	Predisposition to invasive fungal disease due to CARD9 deficiency	183710	Disease
290839	Autoinflammatory syndrome with immune deficiency	101988	Category
300359	PLCG2-associated antibody deficiency and immune dysregulation	182228, 280373, 290839, 324933, 79391	Disease
619953	Familial hyperinflammatory lymphoproliferative immunodeficiency	290839	Disease
566067	CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome	290839, 324924	Disease
331193	Other immunodeficiency syndromes due to defects in innate immunity	101988	Category
431156	Primary immunodeficiency with predisposition to severe viral infection	101988	Category
574918	Predisposition to severe viral infection due to IRF7 deficiency	431156	Disease
431166	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	431156	Disease
437552	Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	431156, 506219	Disease
179006	Primary immunodeficiency due to a defect in adaptive immunity	101997	Category
83471	T-cell immunodeficiency with thymic aplasia	179006	Disease
101972	Combined T and B cell immunodeficiency	179006	Clinical group
183660	Severe combined immunodeficiency	101972, 506219	Clinical group
317416	T-B+ severe combined immunodeficiency	183660	Clinical group
504523	Severe combined immunodeficiency due to LAT deficiency	317416	Disease
276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	317416	Disease
35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	317416	Disease
169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	317416	Disease
169157	T-B+ severe combined immunodeficiency due to CD45 deficiency	317416	Disease
169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	317416	Disease
228003	Severe combined immunodeficiency due to CORO1A deficiency	317416	Disease
169095	Severe combined immunodeficiency due to FOXN1 deficiency	317416, 331220	Disease
317419	T-B- severe combined immunodeficiency	183660	Clinical group
275	Severe combined immunodeficiency due to DCLRE1C deficiency	317419	Disease
935	Short-limb skeletal dysplasia with severe combined immunodeficiency	317419	Disease
33355	Reticular dysgenesis	317419	Disease
317425	Severe combined immunodeficiency due to DNA-PKcs deficiency	317419	Disease
331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	317419	Disease
688543	Reticular dysgenesis-like severe combined immunodeficiency	317419	Disease
397802	T+ B+ severe combined immunodeficiency	183660	Clinical group
480549	Non-severe combined immunodeficiency	101972, 506219	Clinical group
911	Combined immunodeficiency due to ZAP70 deficiency	480549	Disease
34592	Immunodeficiency by defective expression of MHC class I	480549	Disease
169082	Combined immunodeficiency due to CD3gamma deficiency	480549	Disease
169085	Susceptibility to respiratory infections associated with CD8alpha chain mutation	480549	Disease
228000	Idiopathic CD4 lymphocytopenia	480549	Biological anomaly
231154	Combined immunodeficiency due to partial RAG1 deficiency	480549	Disease
464336	BENTA disease	480549	Disease
653751	X-linked combined immunodeficiency due to SASH3 deficiency	480549	Disease
676039	Combined immunodeficiency due to FOXN1 haploinsufficiency	480549	Disease
647804	Combined immunodeficiency due to FCHO1 deficiency	480549	Disease
688571	Combined immunodeficiency with low immunoglobulins and normal B cells	480549	Clinical group
695191	Late-onset combined immunodeficiency due to ICOSL deficiency	688571	Disease
697403	Combined immunodeficiency-hypogammaglobulinemia-skeletal anomalies syndrome due to IKBKA deficiency	688571	Disease
697394	Combined immunodeficiency due to c-REL deficiency	688571	Disease
699578	Combined immunodeficiency with low Ig due to BCL10 deficiency	688571	Disease
697414	Early-onset combined immunodeficiency with low Ig due to dominant negative IKAROS mutation	688571	Disease
697389	Combined immunodeficiency due to HELIOS deficiency	688571	Disease
697385	Combined immunodeficiency-cancer predisposing syndrome due to AIOLOS deficiency	688571	Disease
699593	Combined immunodeficiency-lymphopenia-cancer predisposing syndrome due to AIOLOS deficiency	697385	Clinical subtype
699596	Combined immunodeficiency-hypogammaglobulinemia-cancer predisposing syndrome due to AIOLOS deficiency	697385	Clinical subtype
695183	Late-onset combined immunodeficiency due to ICOS deficiency	688571	Disease
397787	Combined immunodeficiency due to IKBKB deficiency	688571	Disease
183663	Hyper-IgM syndrome with susceptibility to opportunistic infections	688571	Disease
101088	X-linked hyper-IgM syndrome	183663	Clinical subtype
101090	Hyper-IgM syndrome type 3	183663	Clinical subtype
447737	Combined immunodeficiency due to DOCK2 deficiency	688571	Disease
357237	Combined immunodeficiency due to CARD11 deficiency	688571	Disease
476113	Combined immunodeficiency due to TFRC deficiency	688571	Disease
357329	Combined immunodeficiency due to IL21R deficiency	688571	Disease
688563	Combined immunodeficiency with normal Ig and poor specific antibody response	480549	Clinical group
397964	Combined immunodeficiency due to MALT1 deficiency	688563	Disease
688594	Combined immunodeficiency due to RELB deficiency	169355, 688563	Disease
695164	Combined immunodeficiency with low B cells and hypogammaglobulinemia	480549	Category
700205	Combined immunodeficiency due to IKBKB gain-of-function mutation	695164	Disease
217390	Combined immunodeficiency due to DOCK8 deficiency	695164	Disease
447731	NIK deficiency	695164	Disease
314689	Combined immunodeficiency due to STK4 deficiency	695164	Disease
39041	Omenn syndrome	695164	Disease
504530	Combined immunodeficiency due to Moesin deficiency	695164	Disease
101977	Immunodeficiency predominantly affecting antibody production	179006	Category
1006	Alopecia antibody deficiency	101977, 79364	Disease
169443	Specific antibody deficiency with normal immunoglobulin concentrations and normal numbers of B cells	101977	Category
70593	Immunodeficiency due to selective anti-polysaccharide antibody deficiency	169443	Disease
183669	Agammaglobulinemia	101977	Category
229717	Non-syndromic agammaglobulinemia	183669	Disease
47	X-linked agammaglobulinemia	229717	Clinical subtype
33110	Autosomal non-syndromic agammaglobulinemia	229717	Clinical subtype
229720	Syndromic agammaglobulinemia	183669	Category
693627	Agammaglobulinemia-skin involvement-failure to thrive syndrome	229720, 79391	Disease
331232	Immunodeficiency with isotype or light chain deficiencies with normal number of B-cells	101977	Category
169139	Transient hypogammaglobulinemia of infancy	331232	Disease
2571	X-linked immunoneurologic disorder	331232	Disease
169110	Immunoglobulin heavy chain deficiency	331232	Disease
183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency	331232	Disease
331235	Selective IgM deficiency	331232	Disease
331240	Immunodeficiency with severe reduction in serum IgG and IgA with normal/elevated IgM and normal number of B-cells	101977, 506219	Category
183666	Hyper-IgM syndrome without susceptibility to opportunistic infections	331240	Disease
101089	Hyper-IgM syndrome type 2	183666	Clinical subtype
101091	Hyper-IgM syndrome type 4	183666	Clinical subtype
101092	Hyper-IgM syndrome type 5	183666	Clinical subtype
696851	Common variable immunodeficiency and related disorders	101977	Category
696870	Common variable immunodeficiency phenotype due to germinal monogenic mutation	696851	Category
397596	Activated PI3K-delta syndrome	696870	Clinical group
693681	Activated PI3K-delta syndrome 2	397596	Disease
693661	Activated PI3K-delta syndrome 1	397596	Disease
317473	Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency	696870	Disease
697417	Common variable immunodeficiency phenotype due to SEC61A1 deficiency	696870	Disease
696945	X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency	696870	Disease
696942	Childhood-onset common variable immunodeficiency due to ARHGEF1 deficiency	696870	Disease
696931	Common variable immunodeficiency phenotype due to TWEAK deficiency	696870	Disease
696874	NFKB1-related immune dysregulation	696870	Disease
696925	Adult-onset common variable immunodeficiency due to BAFF-receptor deficiency	696870	Disease
696907	Common variable immunodeficiency phenotype due to homozygous TACI deficiency	696870	Disease
696904	Common variable immunodeficiency phenotype due to IRF2BP2 deficiency	696870	Disease
696894	Common variable immunodeficiency phenotype due to CD21 deficiency	696870	Disease
696881	Common variable immunodeficiency phenotype due to CD19/CD81 deficiency	696870	Disease
696857	Common variable immunodeficiency phenotype due to germinal digenic/polygenic mutations	696851	Disease
696863	Common variable immunodeficiency phenotype due to somatic mutations	696851	Disease
169361	Immune dysregulation disease with immunodeficiency	179006	Category
158038	Primary hemophagocytic lymphohistiocytosis	158032, 169361, 506219	Clinical group
331249	Primary hemophagocytic lymphohistiocytosis with hypopigmentation	158038	Category
664482	Primary hemophagocytic lymphohistiocytosis without hypopigmentation	158038	Category
169355	Immunodeficiency syndrome with autoimmunity	169361, 506219	Category
275517	Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency	169355	Disease
444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency	169355, 182228, 280373	Disease
699590	Immune dysregulation with immunodeficiency due to AIOLOS haploinsufficiency	169355	Disease
658951	Early-onset immune dysregulation due to DOCK11 complete deficiency	169361, 182231, 271870, 506219	Disease
664456	Immune dysregulation disease with immunodeficiency associated with EBV susceptibility	169361	Clinical group
664734	EBV susceptibility with hemophagocytic lymphohistiocytosis as a major feature	664456	Clinical group
2442	X-linked lymphoproliferative disease	664734	Clinical group
331217	Syndrome with combined immunodeficiency	179006	Category
2951	Absent thumb-short stature-immunodeficiency syndrome	331217	Malformation syndrome
169090	Combined immunodeficiency due to CRAC channel dysfunction	331217, 506219	Disease
317428	Combined immunodeficiency due to ORAI1 deficiency	169090	Clinical subtype
317430	Combined immunodeficiency due to STIM1 deficiency	169090	Clinical subtype
169346	DNA repair defect other than combined T-cell and B-cell immunodeficiencies	331217, 506219	Category
505227	Combined immunodeficiency due to GINS1 deficiency	169346	Disease
75391	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	169346	Disease
169349	Immuno-osseous dysplasia	331217	Clinical group
329173	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	324933, 331217	Disease
331220	Syndome with combined immunodeficiency due to thymic defect	331217	Category
331223	Hyper-IgE syndrome	331217	Clinical group
656313	Autosomal dominant combined immunodeficiency due to partial IL6ST deficiency	331223	Disease
619972	CADINS disease	331223, 79391	Disease
699599	ICHAD syndrome	331217	Disease
279943	Hereditary neutrophilia	183770, 98004	Disease
233655	Rare genetic vascular disease	496924, 98053	Category
86	Familial abdominal aortic aneurysm	233655	Disease
820	Sneddon syndrome	182228, 233655, 496924, 71281, 90077	Disease
51608	Generalized arterial calcification of infancy	233655	Disease
285014	Rare disease with thoracic aortic aneurysm and aortic dissection	233655, 97962	Category
229	Familial aortic dissection	285014	Disease
91387	Familial thoracic aortic aneurysm and aortic dissection	284993, 285014	Disease
284979	Neonatal Marfan syndrome	284993, 285014	Disease
284984	Aneurysm-osteoarthritis syndrome	284993, 285014	Disease
289601	Hereditary arterial and articular multiple calcification syndrome	233655	Disease
404553	Deficiency of adenosine deaminase 2	156143, 233655, 280369, 477647, 481671	Disease
271870	Rare genetic systemic or rheumatologic disease	98053	Category
2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome	182231, 271870	Disease
521450	LAMA5-related multisystemic syndrome	182222, 271870	Disease
300382	Progeroid and marfanoid aspect-lipodystrophy syndrome	182222, 271870	Disease
329967	Intermittent hydrarthrosis	182231, 271870, 486955	Disease
444116	Hereditary amyloidosis	271870	Category
314652	Variant ABeta2M amyloidosis	439246, 444116	Disease
619249	Rare hereditary connective tissue disease	271870	Category
284993	Marfan syndrome and Marfan-related disorders	182222, 619249	Category
619238	Rare hereditary autoinflammatory disease	271870	Category
324924	Hereditary periodic fever syndrome	101995, 324939, 619238	Category
500062	Infantile-onset periodic fever-panniculitis-dermatosis syndrome	324924	Disease
477647	Type 1 interferonopathy	619238, 93665	Category
300345	Autosomal systemic lupus erythematosus	182228, 477647, 481671, 506210	Disease
699605	NEMO deleted exon 5 autoinflammatory syndrome	477647, 481671	Disease
324933	Mixed autoinflammatory and autoimmune syndrome	319719, 619238, 93665	Category
324530	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	324933	Disease
48104	Pyoderma gangrenosum	290842, 324927, 619238	Disease
538863	Classic pyoderma gangrenosum	48104	Clinical subtype
538866	Pustular pyoderma gangrenosum	48104	Clinical subtype
538869	Bullous pyoderma gangrenosum	48104	Clinical subtype
538872	Vegetative pyoderma gangrenosum	48104	Clinical subtype
275742	Genetic infertility	98053	Category
399980	Rare genetic male infertility	275742	Category
399764	Male infertility due to gonadal dysgenesis or sperm disorder	399980, 98048	Category
98313	Male infertility due to gonadal dysgenesis	399764	Category
399771	Male infertility due to sperm disorder	399764	Category
399775	Male infertility with spermatogenesis disorder	399771	Category
399786	Male infertility with spermatogenesis disorder due to single gene mutation	399775	Category
399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	399786	Disease
399808	Male infertility with teratozoospermia due to single gene mutation	399786	Disease
529970	Male infertility due to acephalic spermatozoa	399808	Clinical subtype
137893	Male infertility due to large-headed multiflagellar polyploid spermatozoa	399808	Clinical subtype
171709	Male infertility due to globozoospermia	399808	Clinical subtype
399813	Male infertility due to sperm motility disorder	399771	Category
276234	Non-syndromic male infertility due to sperm motility disorder	399813	Disease
399983	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	399980	Category
399685	Rare male infertility due to testicular endocrine disorder	399572, 399983	Category
399994	Rare male infertility due to adrenal disorder of genetic origin	399983	Category
399998	Male infertility due to obstructive azoospermia of genetic origin	399980	Category
400003	Rare genetic disorder with obstructive azoospermia	399998	Category
400008	Rare genetic female infertility	275742	Category
399877	Rare female infertility due to gonadal dysgenesis	400008, 98049	Category
400011	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder of genetic origin	400008	Category
399839	Rare female infertility due to a congenital hypogonadotropic hypogonadism	399831, 400011	Category
399846	Rare disorder with female infertility due to a congenital hypogonadotropic hypogonadism	399839	Category
400018	Rare female infertility due to adrenal disorder of genetic origin	400011	Category
400022	Rare female infertility due to an anomaly of ovarian function of genetic origin	400011	Category
400025	Female infertility due to an implantation defect of genetic origin	400008	Category
404469	Rare female infertility due to oocyte maturation defect	400008, 98049	Category
488191	Female infertility due to oocyte meiotic arrest	404469	Disease
404466	Female infertility due to zona pellucida defect	404469	Disease
98301	Laminopathy	98053	Category
300755	Laminopathy with striated muscle involvement	98301	Category
300758	Laminopathy with peripheral neuropathy	98301	Category
300763	Laminopathy with lipodystrophy	98301	Category
300766	Laminopathy with premature aging	98301	Category
363250	Ciliopathy	98053	Category
156162	Renal ciliopathy	363250	Category
352540	Oncogenic osteomalacia	156162, 68415, 93419, 93603	Disease
156165	Retinal ciliopathy	363250	Category
156168	Retinal ciliopathy due to mutation in the retinitis pigmentosa-1 gene	156165	Category
156171	Retinal ciliopathy due to mutation in the RPGR gene	156165	Category
156174	Retinal ciliopathy due to mutation in the RPGRIP gene	156165	Category
156177	Retinal ciliopathy due to mutation in Usher gene	156165	Category
156180	Retinal ciliopathy due to mutation in nephronophthisis gene	156165	Category
156183	Retinal ciliopathy due to mutation in Bardet-Biedl gene	156165	Category
250805	Serpinopathy	98053	Category
250808	Serpinopathy with toxic serpin polymerization	250805	Category
250811	Serpinopathy with loss of serpin function	250805	Category
98006	Rare neurologic disease		Category
90058	Spinal cord injury	98006	Particular clinical situation in a disease or syndrome
90056	Moderate and severe traumatic brain injury	98006	Particular clinical situation in a disease or syndrome
363746	Balint syndrome	519343, 98006	Clinical syndrome
398147	Persistent idiopathic facial pain	98006	Disease
423662	Rare autonomic nervous system disorder	98006	Category
441	Pure autonomic failure	182058, 423662	Disease
396	Chronic hiccup	423662	Disease
443084	Baroreflex failure	423662	Clinical syndrome
101998	Rare epilepsy	98006	Category
139426	Perioral myoclonia with absences	98259	Disease
139431	Epilepsy with eyelid myoclonia	98259	Disease
363567	Acute encephalopathy with inflammation-mediated status epilepticus	166484, 98259	Clinical group
163703	Febrile infection-related epilepsy syndrome	363567	Disease
363549	Acute encephalopathy with biphasic seizures and late reduced diffusion	363567	Disease
363558	New-onset refractory status epilepticus	363567, 98260	Disease
1544	Benign focal seizures of adolescence	98260	Disease
166484	Inflammatory and autoimmune disease with epilepsy	101998	Category
117	Behçet disease	156140, 166484, 280926, 280930, 280933, 290842, 324936, 324953, 567558	Disease
900	Granulomatosis with polyangiitis	156152, 166484, 209007, 567560	Disease
1214	Progressive hemifacial atrophy	102005, 166484	Disease
1459	Celiac disease-epilepsy-cerebral calcification syndrome	166484	Disease
1929	Rasmussen subacute encephalitis	166484, 98255	Disease
83467	Morvan syndrome	166484, 221114, 98750	Disease
93552	Pediatric systemic lupus erythematosus	166484, 182228, 264704, 280373, 567560, 93573	Disease
624166	Non-specific autoimmune supratentorial encephalitis with characteristic antibodies	166484, 36388, 622014	Disease
624178	Non-specific autoimmune supratentorial encephalitis without characteristic antibodies	166484, 36388, 622014	Disease
166490	Infectious disease with epilepsy	101998	Category
2806	Subacute sclerosing leukoencephalitis	166490, 98255	Disease
297	Tick-borne encephalitis	166490, 98252	Disease
33475	Meningococcal meningitis	166490, 98010	Disease
55655	Pneumococcal meningitis	163582, 166490, 98010	Disease
79139	Japanese encephalitis	166490, 98252	Disease
83476	West-Nile encephalitis	166490, 98252	Disease
83482	Mycoplasma encephalitis	166490, 98252	Disease
83483	La Crosse encephalitis	166490, 98252	Disease
83484	St. Louis encephalitis	166490, 98252	Disease
83593	Western equine encephalitis	166490, 98252	Disease
83594	Eastern equine encephalitis	166490, 98252	Disease
83595	Colorado tick fever	166490, 98252	Disease
83597	Acute disseminated encephalomyelitis	166490, 228145, 499047, 622014	Disease
592894	Acute disseminated encephalomyelitis with anti-MOG antibodies	83597	Clinical subtype
592900	Acute disseminated encephalomyelitis without anti-MOG antibodies	83597	Clinical subtype
83600	Encephalitis lethargica	166490, 306666, 98255	Disease
83616	Rubella panencephalitis	166490, 98252, 98255	Disease
637051	Borna virus encephalitis	166490, 98252	Disease
102000	Medullar disease	98006	Category
623801	Acute flaccid myelitis	102000	Disease
3280	Syringomyelia	102000	Clinical group
99857	Secondary syringomyelia	3280	Disease
831	Congenital cervical spinal stenosis	102000	Disease
90021	Radiation myelitis	102000, 521132	Disease
139417	Acute transverse myelitis	102000	Disease
592873	Acute transverse myelitis with anti-MOG antibodies	139417	Clinical subtype
139423	Idiopathic acute transverse myelitis	139417	Clinical subtype
102002	Rare ataxia	98006	Category
247239	Non-hereditary degenerative ataxia	102002	Category
227510	Multiple system atrophy, cerebellar type	102, 247239	Clinical subtype
247234	Sporadic adult-onset ataxia of unknown etiology	247239	Disease
247242	Acquired ataxia	102002	Category
623638	Immune-mediated cerebellar ataxia	247242, 622014	Clinical group
624268	Non-specific autoimmune cerebellar ataxia without characteristic antibodies	623638	Disease
623626	Paraneoplastic cerebellar degeneration	36388, 623638	Disease
624244	Postinfectious cerebellitis	623638	Disease
624259	Non-specific autoimmune cerebellar ataxia with characteristic antibodies	623638	Disease
83601	Steroid-responsive encephalopathy associated with autoimmune thyroiditis	177101, 247242, 622014, 98033	Disease
247245	Superficial siderosis	247242	Disease
102003	Rare movement disorder	98006	Category
3198	Stiff person spectrum disorder	102003, 181381, 182064	Disease
438266	Progressive encephalomyelitis with rigidity and myoclonus	3198	Clinical subtype
443192	Classic stiff person syndrome	3198	Clinical subtype
443804	Focal stiff limb syndrome	3198	Clinical subtype
68402	Rare parkinsonian disorder	102003	Category
306666	Rare parkinsonian syndrome due to neurodegenerative disease	68402	Category
75567	Primary progressive freezing gait	306666	Clinical syndrome
97349	Postencephalitic parkinsonism	306666, 98542	Disease
97355	Caribbean parkinsonism	306666, 89043	Disease
98933	Multiple system atrophy, parkinsonian type	102, 306666	Clinical subtype
306679	Rare parkinsonian syndrome due to intoxication	68402	Category
306682	Manganese poisoning	306679, 556508	Disease
306686	Delayed encephalopathy due to carbon monoxide poisoning	306679, 556508	Disease
306692	Cyanide-induced parkinsonism-dystonia	306679, 556508	Disease
391655	Off-periods in Parkinson disease not responding to oral treatment	68402	Particular clinical situation in a disease or syndrome
71519	Psychogenic movement disorders	102003	Clinical syndrome
306695	Miscellaneous movement disorder due to neurodegenerative disease	102003	Category
204	Sporadic Creutzfeldt-Jakob disease	306695, 576356	Disease
102	Multiple system atrophy	182058, 182070, 306695	Disease
454700	Acquired Creutzfeldt-Jakob disease	306695, 576360	Clinical group
576370	Variant Creutzfeldt-Jakob disease	454700	Disease
576379	Iatrogenic Creutzfeldt-Jakob disease	454700	Disease
454745	Kuru	306695, 576360	Disease
454742	Variably protease-sensitive prionopathy	306695, 576356	Disease
306773	Hyperekplexia	102003	Clinical group
306776	Sporadic hyperekplexia	306773	Disease
617440	Painful legs and moving toes syndrome	102003	Clinical syndrome
494457	Rare hyperkinetic movement disorder	102003	Category
68363	Rare dystonia	494457	Category
306741	Hemidystonia-hemiatrophy syndrome	68363	Disease
306712	Rare tremor disorder	494457	Category
3350	Tremor-nystagmus-duodenal ulcer syndrome	306712	Disease
238606	Primary orthostatic tremor	306712	Disease
306715	Rare choreic movement disorder	494457	Category
306727	Postinfectious autoimmune disease with chorea	306715	Category
66624	PANDAS	306727	Disease
306731	Sydenham chorea	306727	Particular clinical situation in a disease or syndrome
306747	Rare myoclonus	494457	Category
306753	Rare disease with myoclonus as a major feature	306747	Category
1183	Opsoclonus-myoclonus syndrome	102005, 306753, 36388, 519341	Disease
137817	Arachnoiditis	98006	Disease
137929	Neonatal brainstem dysfunction	98006	Disease
182064	Rare neuroinflammatory or neuroimmunological disease	98006	Category
499096	Isolated optic neuritis	182064, 499047	Disease
499085	Chronic relapsing inflammatory optic neuritis	499096	Clinical subtype
659634	Relapsing isolated optic neuritis	499096	Clinical subtype
659626	Single isolated optic neuritis	499096	Clinical subtype
2103	Guillain-Barré syndrome	182064, 207038	Clinical group
98916	Acute inflammatory demyelinating polyradiculoneuropathy	2103	Disease
98917	Acute motor and sensory axonal neuropathy	2103	Disease
98918	Acute motor axonal neuropathy	2103	Disease
231413	Variant of Guillain-Barré syndrome	2103	Category
231416	Regional variant of Guillain-Barré syndrome	231413	Clinical group
79138	Bickerstaff brainstem encephalitis	231416, 622014	Disease
98919	Miller Fisher syndrome	231416	Disease
231426	Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome	231416	Disease
480701	Facial diplegia with paresthesias	231416	Disease
231419	Functional variant of Guillain-Barré syndrome	231413	Clinical group
231445	Paraparetic variant of Guillain-Barré syndrome	231419	Disease
231450	Acute pure sensory neuropathy	231419	Disease
231457	Acute pandysautonomia	231419	Disease
231466	Acute sensory ataxic neuropathy	231419	Disease
2932	Chronic inflammatory demyelinating polyneuropathy	182064, 208978	Disease
48162	Lewis-Sumner syndrome	2932	Clinical subtype
3437	Vogt-Koyanagi-Harada disease	182064, 280898, 716195, 98641	Disease
71279	CANOMAD syndrome	182064, 208974, 209010	Disease
102005	Brain inflammatory disease	182064	Category
97275	Encephalitis	102005	Category
622014	Autoimmune encephalitis	97275	Clinical group
624190	Paraneoplastic isolated brainstem encephalitis	36388, 622014	Disease
217253	NMDA receptor encephalitis	622014	Disease
623615	Autoimmune limbic encephalitis	36388, 622014	Disease
624199	Non-specific autoimmune brainstem encephalitis with characteristic antibodies	622014	Disease
624216	Non-specific autoimmune brainstem encephalitis without characteristic antibodies	622014	Disease
163921	Posttransplant acute limbic encephalitis	565779, 97275	Particular clinical situation in a disease or syndrome
98252	Infectious encephalitis	163585, 97275, 98010	Category
324625	Chikungunya	98252	Disease
99825	Nipah virus disease	98252	Disease
217260	Progressive multifocal leukoencephalopathy	98252	Disease
263524	Acute necrotizing encephalopathy of childhood	98252	Disease
324632	Hendra virus infection	98252	Disease
98255	Chronic encephalitis	97275, 98010	Category
48435	Postinfectious vasculitis	102005, 445197	Disease
449427	IgG4-related pachymeningitis	102005, 596448	Clinical subtype
228145	Multiple sclerosis variant	182064	Category
59298	Schilder disease	228145	Disease
71211	Neuromyelitis optica spectrum disorder	228145, 499047	Disease
592850	Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies	71211	Clinical subtype
592869	Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies	71211	Clinical subtype
592856	Neuromyelitis optica spectrum disorder with anti-MOG antibodies	71211	Clinical subtype
228157	Marburg acute multiple sclerosis	228145	Disease
228165	Baló concentric sclerosis	228145	Disease
477738	Pediatric multiple sclerosis	228145	Disease
284448	CLIPPERS	182064	Disease
182070	Rare neurodegenerative disease	98006	Category
684290	Hypertrophic olivary degeneration	182070	Disease
98534	Neurodegenerative disease with dementia	182070, 89043	Category
90020	Parkinson-dementia complex of Guam	98534	Disease
95432	Primary progressive aphasia	98534	Clinical group
250831	Logopenic progressive aphasia	95432	Disease
98535	Frontotemporal degeneration with dementia	98534	Clinical group
56970	Human prion disease	98534	Category
576356	Sporadic human prion disease	56970	Category
586130	Sporadic fatal insomnia	576356	Disease
576360	Acquired human prion disease	56970	Category
221074	Marchiafava-Bignami disease	182070	Disease
314566	Primary progressive apraxia of speech	182070	Disease
454706	Progressive muscular atrophy	182070, 98503	Disease
211047	Specific learning disability	98006	Clinical group
211053	Specific language disorder	211047	Clinical group
1799	Familial developmental dysphasia	211053	Clinical syndrome
221117	Gerstmann syndrome	98006	Disease
238624	Idiopathic intracranial hypertension	98006	Disease
252190	Inherited nervous system cancer-predisposing syndrome	98006	Category
2481	Neurocutaneous melanocytosis	252190, 294057	Disease
443101	Hypothalamic adipsic hypernatraemia syndrome	181384, 252190	Disease
276174	Idiopathic recurrent stupor	98006	Disease
3465	Worster-Drought syndrome	98006	Disease
29822	Spontaneous periodic hypothermia	98006	Disease
36388	Paraneoplastic neurologic syndrome	98006	Category
43393	Lambert-Eaton myasthenic syndrome	36388, 464764, 98750	Disease
71505	Cancer-associated retinopathy	36388, 716410	Disease
208999	Paraneoplastic sensory ganglionopathy	208984, 36388	Disease
68354	Rare sleep disorder	98006	Category
33208	Idiopathic hypersomnia	68354	Disease
33543	Kleine-Levin syndrome	68354	Disease
73267	Non-24-hour sleep-wake syndrome	68354	Disease
420789	Autoimmune encephalopathy with parasomnia and obstructive sleep apnea	68354, 98033	Disease
619284	Narcolepsy	68354	Clinical group
2073	Narcolepsy type 1	619284	Disease
83465	Narcolepsy type 2	619284	Disease
68381	Neuromuscular disease	98006	Category
71864	Muscular channelopathy	68381	Category
98750	Autoimmune neurological channelopathy	71864	Category
84142	Isaacs syndrome	221114, 98750	Disease
98472	Skeletal muscle disease	68381	Category
206976	Periodic paralysis	206634	Clinical group
79102	Thyrotoxic periodic paralysis	206976	Disease
206638	Acquired skeletal muscle disease	98472	Category
1320	Idiopathic camptocormia	206638	Morphological anomaly
592	Macrophagic myofasciitis	206638	Disease
98482	Idiopathic inflammatory myopathy	182228, 206638	Category
611	Inclusion body myositis	98482	Disease
732	Polymyositis	567558, 98482	Disease
221	Dermatomyositis	290836, 567558, 98482	Disease
645617	Amyopathic dermatomyositis	221	Clinical subtype
645626	Adermatopathic dermatomyositis	221	Clinical subtype
645613	Classical dermatomyositis	221	Clinical subtype
3165	Eosinophilic fasciitis	280373, 90077, 98482	Disease
81	Antisynthetase syndrome	264745, 98482	Disease
48918	Focal myositis	98482	Disease
206569	Immune-mediated necrotizing myopathy	98482	Disease
206572	Overlap myositis	98482	Disease
247718	Inflammatory myopathy with abundant macrophages	98482	Disease
247724	Idiopathic eosinophilic myositis	98482	Disease
329888	Juvenile idiopathic inflammatory myopathy	98482	Category
93568	Juvenile polymyositis	264704, 280373, 329888, 567558	Disease
93672	Juvenile dermatomyositis	264704, 280373, 290836, 329888, 567558	Disease
329894	Juvenile overlap myositis	329888	Disease
206982	Muscular tumor	206638	Category
780	Rhabdomyosarcoma	206982, 3394	Disease
99756	Alveolar rhabdomyosarcoma	780	Clinical subtype
293199	Pleomorphic rhabdomyosarcoma	780	Clinical subtype
99757	Embryonal rhabdomyosarcoma	780	Clinical subtype
79105	Myxofibrosarcoma	206982, 3394	Disease
206988	Infectious, fungal or parasitic myopathy	206638	Category
206991	Viral myositis	206988	Disease
206994	Bacterial myositis	206988	Disease
206997	Parasitic myositis	206988	Category
863	Trichinellosis	163588, 206997	Disease
207000	Fungal myositis	206988	Disease
447881	Idiopathic dropped head syndrome	206638	Clinical syndrome
98491	Neuromuscular junction disease	68381	Category
98494	Acquired neuromuscular junction disease	98491	Category
1267	Botulism	163582, 519286, 519347, 98494	Disease
228371	Foodborne botulism	1267	Clinical subtype
230800	Toxin-mediated infectious botulism	1267	Clinical subtype
178475	Wound botulism	230800	Etiological subtype
178481	Intestinal botulism	230800	Clinical subtype
178478	Infant botulism	178481	Clinical subtype
178487	Adult intestinal botulism	178481	Clinical subtype
254504	Inhalational botulism	1267	Clinical subtype
254509	Iatrogenic botulism	1267	Clinical subtype
464764	Immune-mediated acquired neuromuscular junction disease	98494	Clinical group
589	Myasthenia gravis	464764, 519347	Disease
391490	Adult-onset myasthenia gravis	589	Clinical subtype
391497	Juvenile myasthenia gravis	589	Clinical subtype
391504	Transient neonatal myasthenia gravis	398091, 589	Clinical subtype
206575	Rippling muscle disease with myasthenia gravis	464764	Disease
98503	Motor neuron disease	68381	Category
98506	Acquired motor neuron disease	98503	Category
2912	Poliomyelitis	98010, 98506	Disease
2942	Postpoliomyelitis syndrome	98506	Disease
65684	Monomelic amyotrophy	98506	Disease
94091	Mills syndrome	98506	Disease
99965	O'Sullivan-McLeod syndrome	98506	Disease
71281	Rare central nervous system and retinal vascular disease	98006	Category
482092	Rare idiopathic macular telangiectasia	71281, 716432, 716466	Category
353344	Idiopathic macular telangiectasia type 1	482092	Disease
353351	Idiopathic macular telangiectasia type 3	482092	Disease
838	Susac syndrome	182228, 496924, 71281, 716459	Disease
90065	Acquired aneurysmal subarachnoid hemorrhage	71281	Particular clinical situation in a disease or syndrome
102006	Neurovascular malformation	71281	Category
353334	Congenital retinal arteriovenous communication	102006, 716450	Morphological anomaly
209943	IRVAN syndrome	71281, 716459	Disease
329217	Cerebral sinovenous thrombosis	71281	Disease
353356	Vasoproliferative tumor of the retina	101950, 71281	Disease
439175	Pediatric arterial ischemic stroke	496924, 71281	Clinical syndrome
447788	Cerebral visual impairment	519343, 71281	Clinical syndrome
477768	Moyamoya angiopathy	71281	Clinical group
137577	Neonatal hypoxic and ischemic brain injury	71281	Particular clinical situation in a disease or syndrome
83452	Complex regional pain syndrome	98006	Disease
99994	Complex regional pain syndrome type 2	83452	Clinical subtype
99995	Complex regional pain syndrome type 1	83452	Clinical subtype
87277	Rare intellectual disability	98006	Category
102369	Rare syndromic intellectual disability	87277	Category
98010	Infectious disease of the nervous system	98006	Category
3299	Tetanus	163582, 98010	Disease
770	Rabies	163585, 98010	Disease
289326	Tropical spastic paraparesis	163585, 98010	Disease
641396	Central nervous system tuberculosis	3389, 98010	Disease
98022	Rare headache	98006	Category
157843	Trigeminal autonomic cephalalgia	98022	Clinical group
57145	SUNCT syndrome	157843	Disease
157835	Paroxysmal hemicrania	157843	Disease
443070	Hemicrania continua	157843	Disease
276429	Hypnic headache	98022	Disease
284388	Reversible cerebral vasoconstriction syndrome	98022	Clinical syndrome
443180	Spontaneous intracranial hypotension	98022	Disease
353253	Burning mouth syndrome	98022	Disease
98033	Rare neurologic disease with psychiatric involvement	98006	Category
89043	Rare dementia	98033	Category
97353	Dementia pugilistica	89043	Disease
98542	Infectious disease with dementia	89043	Category
157823	Klüver-Bucy syndrome	98033	Clinical syndrome
648919	Idiopathic catatonia	98033	Disease
525738	Prepubertal anorexia nervosa	181384, 98033	Disease
443173	Postpartum psychosis	163637, 98033	Disease
623789	Body integrity dysphoria	98033	Disease
641496	Childhood-onset schizophrenia	98033	Disease
98062	Rare nervous system tumor	98006, 98057	Category
46135	Primary central nervous system lymphoma	279911, 289644, 98062	Disease
251558	Rare tumor of neuroepithelial tissue	98062	Category
182067	Glial tumor	251558	Clinical group
301	Ependymal tumor	182067	Clinical group
530792	RELA fusion-positive ependymoma	301	Disease
251646	Anaplastic ependymoma	301	Disease
251636	Ependymoma	301	Disease
251639	Subependymoma	301	Disease
251643	Myxopapillary ependymoma	301	Disease
94	Astrocytoma	182067	Clinical group
251561	High-grade astrocytoma	94	Clinical group
695136	Infant-type hemispheric glioma	251561	Disease
715694	Infant-type hemispheric glioma NTRK-altered	695136	Etiological subtype
715697	Infant-type hemispheric glioma ALK-altered	695136	Etiological subtype
715701	Infant-type hemispheric glioma ROS1-altered	695136	Etiological subtype
715704	Infant-type hemispheric glioma MET-altered	695136	Etiological subtype
715721	High-grade astrocytoma with piloid features	251561	Disease
715724	Diffuse pediatric-type high-grade glioma-H3-wildtype-IDH-wildtype	251561	Disease
715950	Diffuse hemispheric glioma-H3 G34-mutant	251561	Disease
497188	Diffuse intrinsic pontine glioma	251561	Disease
360	Glioblastoma	251561	Disease
251576	Gliosarcoma	360	Histopathological subtype
251579	Giant cell glioblastoma	360	Histopathological subtype
251582	Gliomatosis cerebri	251561	Disease
251589	Anaplastic astrocytoma	251561	Disease
251592	Low-grade astrocytoma	94	Clinical group
251595	Diffuse astrocytoma	251592	Disease
251598	Protoplasmic astrocytoma	251595	Histopathological subtype
251601	Fibrillary astrocytoma	251595	Histopathological subtype
251604	Gemistocytic astrocytoma	251595	Histopathological subtype
251607	Pleomorphic xanthoastrocytoma	251592	Disease
251612	Pilocytic astrocytoma	251592	Disease
673585	Pilocytic astrocytoma with histological features of anaplasia	251612	Clinical subtype
673580	Classic pilocytic astrocytoma	251612	Clinical subtype
251615	Pilomyxoid astrocytoma	251612	Histopathological subtype
251618	Subependymal giant cell astrocytoma	251592	Disease
251623	Pituicytoma	251592	Disease
717268	Circumscribed astrocytic glioma	94	Category
46484	Oligodendroglial tumor	182067	Clinical group
251627	Oligodendroglioma	46484	Disease
251630	Anaplastic oligodendroglioma	46484	Disease
251651	Oligoastrocytic tumor	182067	Clinical group
251656	Oligoastrocytoma	251651	Disease
251663	Anaplastic oligoastrocytoma	251651	Disease
251668	Glial tumor of neuroepithelial tissue with unknown origin	182067	Clinical group
251671	Angiocentric glioma	251668	Disease
251674	Chordoid glioma	251668	Disease
251679	Astroblastoma	251668	Disease
251852	Embryonal tumor of neuroepithelial tissue	251558	Category
616	Medulloblastoma	251852	Disease
251855	Anaplastic/large cell medulloblastoma	616	Histopathological subtype
251858	Medulloblastoma with extensive nodularity	616	Histopathological subtype
251863	Desmoplastic/nodular medulloblastoma	616	Histopathological subtype
251867	Classic medulloblastoma	616	Histopathological subtype
99966	Atypical teratoid rhabdoid tumor	251852, 3394	Disease
251870	Central nervous system embryonal tumor	251852	Clinical group
635	Neuroblastoma	251870	Disease
1957	Esthesioneuroblastoma	251870	Disease
251877	Ganglioneuroblastoma	251870	Disease
656417	Embryonal tumor with multilayered rosettes	251870	Disease
251896	Choroid plexus tumor	251558	Clinical group
2807	Papilloma of choroid plexus	251896	Disease
251899	Choroid plexus carcinoma	251896	Disease
251902	Atypical papilloma of choroid plexus	251896	Disease
251905	Pineal tumor of neuroepithelial tissue	251558	Clinical group
251909	Pineoblastoma	251905	Disease
251912	Pineocytoma	251905	Disease
251915	Papillary tumor of the pineal region	251905	Disease
251919	Pineal parenchymal tumor of intermediate differentiation	251905	Disease
251924	Neuronal tumor	251558	Clinical group
73256	Central neurocytoma	251924	Disease
251927	Extraventricular neurocytoma	251924	Disease
251931	Cerebellar liponeurocytoma	251924	Disease
251934	Mixed neuronal-glial tumor	251558	Clinical group
251937	Gangliocytoma	251934	Disease
251940	Desmoplastic infantile astrocytoma/ganglioglioma	251934	Disease
251946	Dysembryoplastic neuroepithelial tumor	251934	Disease
251949	Ganglioglioma	251934	Disease
251957	Anaplastic ganglioglioma	251934	Disease
251962	Papillary glioneuronal tumor	251934	Disease
251975	Rosette-forming glioneuronal tumor	251934	Disease
251992	Ganglioneuroma	251934	Disease
251995	Primary germ cell tumor of central nervous system	363579, 98062	Category
48736	Embryonal carcinoma of the central nervous system	180226, 251995	Clinical subtype
91352	Germinoma of the central nervous system	182127, 251995, 95503	Clinical subtype
252006	Yolk sac tumor of central nervous system	251995, 876	Clinical subtype
252015	Choriocarcinoma of the central nervous system	251995	Disease
252018	Teratoma of the central nervous system	251995, 883	Clinical subtype
252021	Mixed germ cell tumor of central nervous system	180234, 251995	Clinical subtype
252025	Tumor of meninges	98062	Category
2495	Meningioma	252025, 95503	Disease
252028	Primary melanocytic tumor of central nervous system	252025	Category
252031	Diffuse leptomeningeal melanocytosis	252028	Disease
252046	Meningeal melanocytoma	252028	Disease
252050	Primary melanoma of the central nervous system	252028	Disease
263662	Familial multiple meningioma	252025	Disease
252054	Hemangioblastoma	98062	Disease
252057	Tumor of cranial and spinal nerves	98062	Category
2086	Optic pathway glioma	252057, 95503	Disease
3148	Malignant peripheral nerve sheath tumor	252057, 3394	Disease
252212	Malignant triton tumor	3148	Histopathological subtype
252128	Malignant peripheral nerve sheath tumor with perineurial differentiation	3148	Histopathological subtype
85102	Perineurioma	252057	Clinical group
100002	Extraneural perineurioma	85102	Disease
100000	Reticular perineurioma	100002	Clinical subtype
100001	Sclerosing perineurioma	100002	Clinical subtype
100003	Intraneural perineurioma	85102	Disease
252131	Benign peripheral nerve sheath tumor	252057	Category
252164	Benign schwannoma	252131	Disease
252175	Vestibular schwannoma	252164, 98061	Clinical subtype
252183	Neurofibroma	252131	Disease
300501	Painful orbital and systemic neurofibromas-marfanoid habitus syndrome	252131	Malformation syndrome
590539	Isolated melanotic schwannoma	252131, 3394	Disease
279897	Primary oculocerebral lymphoma	101950, 279911, 98062	Disease
98496	Rare peripheral neuropathy	98006	Category
182086	Acquired peripheral neuropathy	98496	Category
2901	Neuralgic amyotrophy	182086	Disease
60039	Pudendal nerve entrapment syndrome	182086	Disease
206613	Infectious disease with peripheral neuropathy	182086	Category
3020	Ramsay Hunt syndrome	163585, 206613	Disease
548	Leprosy	163582, 206613, 399824	Disease
91546	Lyme disease	163582, 206613	Disease
207038	Acute and subacute inflammatory demyelinating polyneuropathy	182086	Category
206594	Subacute inflammatory demyelinating polyneuropathy	207038	Disease
208974	Chronic acquired demyelinating polyneuropathy	182086	Clinical group
2905	POEMS syndrome	208974, 209010, 209016, 98282	Disease
641	Multifocal motor neuropathy	208974	Disease
208978	Chronic polyradiculoneuropathy	208974	Clinical group
208984	Acquired sensory ganglionopathy	182086	Category
208989	Non-paraneoplastic sensory ganglionopathy	208984	Disease
209007	Systemic inflammatory disease associated with an acquired peripheral neuropathy	182086	Category
727	Microscopic polyangiitis	156152, 209007, 567560	Disease
767	Polyarteritis nodosa	156143, 209007, 280369, 567560	Disease
439737	Primary polyarteritis nodosa	767	Clinical subtype
439729	Cutaneous polyarteritis nodosa	439737	Clinical subtype
439755	Single-organ polyarteritis nodosa	439737	Clinical subtype
439762	Systemic polyarteritis nodosa	439737	Clinical subtype
439746	Secondary polyarteritis nodosa	767	Clinical subtype
809	Mixed connective tissue disease	182104, 209007, 251312, 567558	Disease
91138	Cryoglobulinemic vasculitis	156149, 209007, 264973, 280369, 567560	Disease
93554	Mixed cryoglobulinemia type II	91138	Etiological subtype
93555	Mixed cryoglobulinemia type III	91138	Etiological subtype
209010	Peripheral neuropathy associated with monoclonal gammopathy	182086	Category
91139	Simple cryoglobulinemia	182228, 209010, 248365	Disease
209004	Polyneuropathy associated with IgM monoclonal gammopathy	209010	Disease
209013	Acquired amyloid peripheral neuropathy	182086	Category
209016	Hematological disease associated with an acquired peripheral neuropathy	182086	Category
29073	Multiple myeloma	209016, 98282	Disease
86855	Plasmacytoma	209016, 98282	Disease
100021	Primary plasmacytoma of the bone	86855	Clinical subtype
100022	Extramedullary soft tissue plasmacytoma	86855	Clinical subtype
207046	Malignant lymphoma with peripheral neuropathy	209016	Category
33226	Waldenström macroglobulinemia	207046, 300842	Disease
206586	Neurolymphomatosis	207046	Disease
209019	Solid tumor associated with an acquired peripheral neuropathy	182086	Category
221109	Cranial neuralgia	182086	Clinical group
221078	Combined hyperactive dysfunction syndrome of the cranial nerves	221109	Disease
221091	Trigeminal neuralgia	221109	Disease
221098	Glossopharyngeal neuralgia	221109	Disease
664901	Trigeminal trophic syndrome	221109, 90077	Disease
221114	Acquired peripheral movement disorder	182086	Category
439202	Non-recovering obstetric brachial plexus lesion	182086	Disease
521123	Radiation-induced plexopathy	182086, 521132	Disease
658549	Idiopathic small fibers neuropathy	182086	Disease
662240	Frey syndrome	182086	Clinical syndrome
100073	Neurogenic thoracic outlet syndrome	182086, 97330	Clinical subtype
51890	Anterior cutaneous nerve entrapment syndrome	182086	Disease
2048	Foix-Chavany-Marie syndrome	182086	Malformation syndrome
2406	Locked-in syndrome	98006	Clinical syndrome
1314	Symmetrical thalamic calcifications	98006	Disease
466658	Rare disease with malignant hyperthermia	98006	Category
94093	Neuroleptic malignant syndrome	466658	Disease
43116	Serotonin syndrome	466658	Disease
466650	Exercise-induced malignant hyperthermia	466658	Disease
521236	Primary orthostatic disorder	98006	Category
182058	Primary orthostatic hypotension	521236	Clinical group
686468	Post 5-alpha-reductase inhibitors treatment syndrome	98006	Disease
686475	Post-selective serotonin reuptake inhibitor sexual dysfunction	98006	Disease
165711	Rare abdominal surgical disease		Category
1160	Chylous ascites	165711	Disease
49041	IgG4-related retroperitoneal fibrosis	165711, 596448	Clinical subtype
168803	Primary peritoneal tumor	165711, 98057	Category
676030	Primary benign peritoneal tumor	168803	Category
71274	Disseminated peritoneal leiomyomatosis	506216, 676030	Disease
676033	Well-differentiated papillary mesothelial tumour of the peritoneum	676030	Disease
675976	Adenomatoid tumour of the peritoneum	676030	Disease
168816	Peritoneal inclusion cyst	676030	Disease
168807	Primary malignant peritoneal tumor	168803, 506216	Category
26790	Pseudomyxoma peritonei	168807	Disease
83469	Desmoplastic small round cell tumor	168807, 3394	Disease
168811	Malignant peritoneal mesothelioma	168807	Disease
168829	Primary peritoneal carcinoma	168807	Disease
676036	Peritoneal mesothelioma in situ	168807	Disease
238593	IgG4-related mesenteritis	165711, 596448	Clinical subtype
293208	Celiac artery compression syndrome	165711	Disease
306553	Myospherulosis	165711, 68329	Disease
449400	IgG4-related aortitis	165711, 596448	Clinical subtype
57146	Rare hepatic disease		Category
101938	Rare vascular liver disease	57146	Category
480524	Idiopathic peliosis hepatis	101938	Disease
131	Budd-Chiari syndrome	101938, 506210	Disease
890	Hepatic veno-occlusive disease	101938, 506210	Disease
854	Non-malignant and non-cirrhotic portal vein thrombosis	101938	Clinical syndrome
699068	Fontan-associated liver disease	101938, 101939, 496924, 506210	Disease
596937	Portosinusoidal vascular disease	101938	Disease
596941	Incomplete septal cirrhosis	596937	Histopathological subtype
48372	Nodular regenerative hyperplasia of the liver	506210, 596937	Histopathological subtype
64743	Hepatoportal sclerosis	596937	Histopathological subtype
101939	Rare parenchymal liver disease	57146	Category
2137	Autoimmune hepatitis	101939, 506210	Disease
563576	Autoimmune hepatitis type 1	2137	Clinical subtype
563581	Autoimmune hepatitis type 2	2137	Clinical subtype
563589	Seronegative autoimmune hepatitis	2137	Clinical subtype
35063	Fulminant viral hepatitis	101939, 506210	Disease
90003	Inflammatory pseudotumor of the liver	101939	Disease
555434	Fibrohistiocytic inflammatory pseudotumor of the liver	90003	Clinical subtype
555437	Lymphoplasmacytic inflammatory pseudotumor of the liver	284264, 90003	Clinical subtype
209919	Idiopathic copper-associated cirrhosis	101939	Disease
210136	Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome	101939, 264740	Disease
243367	Acute fatty liver of pregnancy	101939, 163637	Disease
485426	Isolated congenital hepatic fibrosis	101939, 506210	Disease
562639	Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome	101939, 101941, 506210	Disease
69665	Intrahepatic cholestasis of pregnancy	101940, 163637	Disease
101941	Rare biliary tract disease	57146	Category
567983	Parenteral nutrition-associated cholestasis	101941	Particular clinical situation in a disease or syndrome
480512	Idiopathic ductopenia	101941, 506210	Disease
480506	Primary intrahepatic lithiasis	101941	Disease
480501	Choledochal cyst	101941, 506210	Morphological anomaly
447771	Sclerosing cholangitis	101941, 506210	Clinical group
171	Primary sclerosing cholangitis	447771	Disease
447764	IgG4-related sclerosing cholangitis	447771, 596448	Clinical subtype
447774	Secondary sclerosing cholangitis	447771	Disease
186	Primary biliary cholangitis	101941, 506210	Disease
779	Reynolds syndrome	101941, 182228, 290836, 567558	Disease
498345	Biliary atresia and associated disorders	101941	Category
498350	Syndromic biliary atresia	498345	Clinical group
440987	Isolated agenesis of gallbladder	101941	Morphological anomaly
521219	Mirizzi syndrome	101941	Clinical syndrome
101943	Rare hepatic and biliary tract tumor	57146, 98059	Category
306633	Rare tumor of gallbladder and extrahepatic biliary tract	101943	Category
56044	Carcinoma of gallbladder and extrahepatic biliary tract	306633	Clinical group
70567	Cholangiocarcinoma	424936, 506210, 56044	Disease
99978	Perihilar cholangiocarcinoma	56044	Disease
424991	Adenocarcinoma of the gallbladder and extrahepatic biliary tract	56044	Disease
424996	Squamous cell carcinoma of gallbladder and extrahepatic biliary tract	56044	Disease
529852	Combined hepatocellular carcinoma and cholangiocarcinoma	424936, 506210, 56044	Disease
100086	Gallbladder neuroendocrine tumor	100101, 306633	Disease
306636	Rare tumor of liver and intrahepatic biliary tract	101943	Category
449	Hepatoblastoma	306636, 506210	Disease
386	Hepatic cystic hamartoma	306636	Disease
54272	Hepatocellular adenoma	306636	Disease
178315	Undifferentiated embryonal sarcoma of the liver	306636	Disease
424933	Rare malignant epithelial tumor of liver and intrahepatic biliary tract	306636	Category
100085	Primary hepatic neuroendocrine carcinoma	100101, 424933, 506210	Disease
424936	Carcinoma of liver and intrahepatic biliary tract	424933	Category
88673	Hepatocellular carcinoma	424936, 506210	Clinical group
33402	Pediatric hepatocellular carcinoma	88673	Disease
210159	Adult hepatocellular carcinoma	88673	Disease
401920	Fibrolamellar hepatocellular carcinoma	424936, 506210	Disease
424943	Adenocarcinoma of the liver and intrahepatic biliary tract	424936	Disease
424970	Undifferentiated carcinoma of liver and intrahepatic biliary tract	424936	Disease
424975	Squamous cell carcinoma of liver and intrahepatic biliary tract	424936	Disease
424982	Biliary cystadenocarcinoma	424936, 506210	Disease
100035	Solitary necrotic nodule of the liver	306636	Disease
566841	Liver adenomatosis	306636, 506210	Disease
90052	Recurrent hepatitis C virus induced liver disease in liver transplant recipients	565779, 57146	Particular clinical situation in a disease or syndrome
90062	Acute liver failure	57146	Clinical syndrome
90073	Hepatitis B reinfection following liver transplantation	565779, 57146	Particular clinical situation in a disease or syndrome
402823	Hepatitis delta	163585, 57146	Disease
97955	Rare respiratory disease		Category
3347	Mounier-Kühn syndrome	97955	Clinical syndrome
63999	IgG4-related mediastinitis	596448, 97955	Clinical subtype
71198	Rare pulmonary hypertension	97955	Category
70591	Chronic thromboembolic pulmonary hypertension	71198	Disease
182090	Pulmonary arterial hypertension	506222, 71198	Category
275786	Drug- or toxin-induced pulmonary arterial hypertension	182090	Clinical group
275791	Pulmonary arterial hypertension associated with another disease	182090	Category
275798	Pulmonary arterial hypertension associated with connective tissue disease	275791	Clinical group
275803	Pulmonary arterial hypertension associated with congenital heart disease	275791	Clinical group
97214	Eisenmenger syndrome	275803	Malformation syndrome
275808	Pulmonary arterial hypertension associated with HIV infection	275791	Clinical group
275813	Pulmonary arterial hypertension associated with portal hypertension	275791	Clinical group
275823	Pulmonary arterial hypertension associated with schistosomiasis	275791	Clinical group
275828	Pulmonary arterial hypertension associated with chronic hemolytic anemia	275791	Clinical group
275837	Pulmonary hypertension owing to lung disease and/or hypoxia	71198	Clinical group
275844	Pulmonary hypertension with unclear multifactorial mechanism	71198	Clinical group
275853	Syndrome with pulmonary hypertension as a major feature	71198	Category
97957	Respiratory or thoracic malformation	97955	Category
182108	Thoracic malformation	97957	Category
2017	Sternal cleft	180776, 182108	Morphological anomaly
2391	Congenitally short costocoracoid ligament	182108	Malformation syndrome
3181	Sprengel deformity	182108	Morphological anomaly
182111	Respiratory malformation	97957	Category
98060	Rare respiratory tumor	97955, 98057	Category
466962	SMARCA4-deficient sarcoma of thorax	3394, 98060	Disease
150	Nasopharyngeal carcinoma	289651, 98060, 98061	Disease
101945	Rare bronchopulmonary and pleural cavity tumors	98060	Category
617916	Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia	101945	Disease
2420	Primary pulmonary lymphoma	101945, 279911	Disease
50251	Pleural mesothelioma	101945	Disease
675837	Diffused pleural mesothelioma	50251	Clinical subtype
675833	Localized pleural mesothelioma	50251	Clinical subtype
675841	Pleural mesothelioma in situ	50251	Clinical subtype
64741	Pulmonary blastoma	101945	Disease
64742	Pleuropulmonary blastoma	101945	Disease
99933	Pleuropulmonary blastoma type 1	64742	Clinical subtype
99934	Pleuropulmonary blastoma type 2	64742	Clinical subtype
99935	Pleuropulmonary blastoma type 3	64742	Clinical subtype
284362	Fetal lung interstitial tumor	64742	Clinical subtype
70573	Small cell lung cancer	101945	Disease
97287	Bronchial neuroendocrine tumor	100101, 101945	Disease
284395	Well-differentiated fetal adenocarcinoma of the lung	101945	Disease
675822	Well-differentiated papillary mesothelial tumour of the pleura	101945	Disease
675814	Adenomatoid tumour of the pleura	101945	Disease
101944	Rare pulmonary disease	97955	Category
389	Langerhans cell histiocytosis	101944, 182222, 506210, 98289	Disease
687733	Pulmonary Langerhans cell histiocytosis	389	Clinical subtype
687741	Multisystem Langerhans cell histiocytosis	389	Clinical subtype
687738	Single-system multifocal Langerhans cell histiocytosis	389	Clinical subtype
687730	Unifocal Langerhans cell histiocytosis	389	Clinical subtype
1164	Allergic bronchopulmonary aspergillosis	101944, 98052	Disease
1303	Bronchiolitis obliterans	101944, 506222	Clinical group
658602	Transplant-related bronchiolitis obliterans	1303	Disease
658612	Non-transplant-related bronchiolitis obliterans	1303	Disease
3348	Tracheobronchopathia osteochondroplastica	101944	Disease
36238	Staphylococcal necrotizing pneumonia	101944, 300579	Disease
60026	Pulmonary nodular lymphoid hyperplasia	101944	Disease
60032	Recurrent respiratory papillomatosis	101944, 98036	Disease
70588	Meconium aspiration syndrome	101944	Disease
70590	Infantile apnea	101944	Disease
90060	Diffuse alveolar hemorrhage	101944	Clinical syndrome
140896	Severe acute respiratory syndrome	101944, 163585	Disease
171700	Diffuse panbronchiolitis	101944	Disease
178320	Acute lung injury	101944	Particular clinical situation in a disease or syndrome
182095	Interstitial lung disease	101944, 506222	Category
264656	Interstitial lung disease specific to childhood	182095	Category
264665	Primary interstitial lung disease specific to childhood	264656	Category
264670	Primary interstitial lung disease specific to childhood due to alveolar structure disorder	264665	Category
264683	Primary interstitial lung disease specific to childhood due to alveolar vascular disorder	264665	Category
264688	Congenital chylothorax	264683	Disease
264691	Isolated pulmonary capillaritis	264683	Disease
264694	Interstitial lung disease specific to infancy	264665	Category
91359	Chronic pneumonitis of infancy	264694	Disease
217557	Pulmonary interstitial glycogenosis	264694	Disease
217560	Neuroendocrine cell hyperplasia of infancy	264694	Disease
264699	Secondary interstitial lung disease specific to childhood associated with a systemic disease	264656	Category
264704	Secondary interstitial lung disease specific to childhood associated with a connective tissue disease	264699	Category
92	Juvenile idiopathic arthritis	182231, 264704, 486955	Clinical group
85410	Oligoarticular juvenile idiopathic arthritis	280926, 92	Disease
85414	Systemic-onset juvenile idiopathic arthritis	92	Disease
85436	Psoriasis-related juvenile idiopathic arthritis	92	Disease
85438	Enthesitis-related juvenile idiopathic arthritis	280926, 92	Disease
91140	Unspecified juvenile idiopathic arthritis	92	Disease
404580	Polyarticular juvenile idiopathic arthritis	92	Clinical group
85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	280926, 404580	Disease
85435	Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis	404580	Disease
264709	Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis	264699	Category
761	Immunoglobulin A vasculitis	156149, 264709, 280369, 567560	Disease
264714	Secondary interstitial lung disease specific to childhood associated with a granulomatous disease	264699	Category
264719	Secondary interstitial lung disease specific to childhood associated with a metabolic disease	264699	Category
264735	Interstitial lung disease specific to adulthood	182095	Category
264740	Primary interstitial lung disease specific to adulthood	264735	Category
747	Autoimmune pulmonary alveolar proteinosis	264740	Disease
70578	Adult acute respiratory distress syndrome	264740	Disease
98300	Idiopathic interstitial pneumonia	264740	Clinical group
2032	Idiopathic pulmonary fibrosis	98300	Disease
1302	Cryptogenic organizing pneumonia	98300	Disease
79126	Acute interstitial pneumonia	98300	Disease
79127	Respiratory bronchiolitis-interstitial lung disease syndrome	98300	Disease
79128	Lymphoid interstitial pneumonia	98300	Disease
91364	Non-specific interstitial pneumonia	98300	Disease
98852	Desquamative interstitial pneumonia	98300	Disease
300564	Combined pulmonary fibrosis-emphysema syndrome	98300	Disease
494428	Idiopathic pleuroparenchymal fibroelastosis	98300	Disease
182098	Pneumoconiosis	264740	Clinical group
2302	Asbestos intoxication	182098	Disease
133	Chronic beryllium disease	182098	Disease
264745	Secondary interstitial lung disease specific to adulthood associated with a systemic disease	264735	Category
264757	Interstitial lung disease in childhood and adulthood	182095	Category
264762	Primary interstitial lung disease in childhood and adulthood	264757	Category
99931	Idiopathic pulmonary hemosiderosis	264762	Disease
264930	Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder	264762	Category
264935	Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder	264762	Category
182101	Idiopathic eosinophilic pneumonia	264935	Clinical group
2902	Idiopathic chronic eosinophilic pneumonia	182101, 98052	Disease
724	Idiopathic acute eosinophilic pneumonia	182101	Disease
264944	Secondary interstitial lung disease in childhood and adulthood	264757	Category
99930	Secondary pulmonary hemosiderosis	264944	Disease
264949	Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease	264944	Category
375	Anti-glomerular basement membrane disease	156146, 264949, 567560	Disease
182104	Secondary interstitial lung disease in childhood and adulthood associated with a connective tissue disease	264949	Category
264968	Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease	264949	Category
264973	Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis	264949	Category
156152	Anti-neutrophil cytoplasmic antibody-associated vasculitis	156146, 264973, 280369	Clinical group
264984	Exposure-related interstitial lung disease	264944	Category
31740	Hypersensitivity pneumonitis	264984, 98052	Disease
686462	Non-fibrotic hypersensitivity pneumonitis	31740	Clinical subtype
686465	Fibrotic hypersensitivity pneumonitis	31740	Clinical subtype
264978	Drug or radiation exposure-related interstitial lung disease	264984	Particular clinical situation in a disease or syndrome
420259	Secondary pulmonary alveolar proteinosis	264944	Disease
99932	Heiner syndrome	264944	Disease
411703	Pulmonary non-tuberculous mycobacterial infection	101944, 163582	Disease
439881	Plastic bronchitis	101944	Particular clinical situation in a disease or syndrome
330012	High altitude pulmonary edema	101944	Particular clinical situation in a disease or syndrome
90066	Pneumonia caused by Pseudomonas aeruginosa infection	101944	Particular clinical situation in a disease or syndrome
576074	Middle East respiratory syndrome	101944, 163585	Disease
449266	Pleural empyema	101944	Particular clinical situation in a disease or syndrome
454836	Avian influenza	101944, 163585	Disease
505395	Ventilator-induced diaphragmatic dysfunction	101944	Particular clinical situation in a disease or syndrome
217080	Pulmonary fungal infections in patients deemed at risk	101944	Particular clinical situation in a disease or syndrome
99981	Apnea of prematurity	101944	Disease
685082	Pediatric acute respiratory distress syndrome	101944	Disease
645814	Primary pulmonary tuberculosis	101944, 3389	Disease
289390	Primary Sjögren disease	101944, 182228	Disease
101433	Rare urogenital disease		Category
692256	Isolated anogenital granulomatosis	101433, 180205, 79381	Disease
2795	Fowler urethral sphincter dysfunction syndrome	101433	Disease
37202	Interstitial cystitis	101433	Disease
84085	Hinman syndrome	101433	Disease
182114	Rare urogenital tumor	101433, 98057	Category
98058	Rare urinary tract tumor	182114	Category
695023	Pure squamous carcinoma of the urothelial tract	98058	Disease
695020	Urachal carcinoma	98058	Disease
498228	Phyllodes tumor of the prostate	98058	Disease
598216	Upper tract urothelial carcinoma	98058	Disease
284400	Small cell carcinoma of the bladder	100101, 98058	Disease
363472	Tumor of testis and paratestis	182114, 626609	Category
363478	Paratesticular adenocarcinoma	363472	Disease
363483	Testicular teratoma	363472	Disease
363489	Sex cord-stromal tumor of testis	363472	Disease
363504	Germ cell tumor of testis	363472, 363582	Category
842	Testicular seminomatous germ cell tumor	363504	Disease
99865	Spermatocytic seminoma	363504	Disease
363494	Non-seminomatous germ cell tumor of testis	363504	Disease
685010	Mesothelioma of the tunica vaginalis	363472	Disease
206484	Gonadoblastoma	363472, 398940	Disease
398043	Malignant tumor of penis	182114, 626609	Category
398053	Adenocarcinoma of the penis	398043	Disease
398058	Squamous cell carcinoma of the penis	398043	Disease
140949	Low-flow priapism	101433	Particular clinical situation in a disease or syndrome
97962	Rare surgical thoracic disease		Category
97330	Thoracic outlet syndrome	97962	Disease
357107	Arterial thoracic outlet syndrome	97330	Clinical subtype
357131	Venous thoracic outlet syndrome	97330	Clinical subtype
180776	Non-syndromic diaphragmatic or thoracic malformation	97962	Category
180779	Syndromic diaphragmatic or thoracic malformation	97962	Category
89826	Rare skin disease		Category
79353	Epidermal disease	89826	Category
79354	Ichthyosis	79353	Category
454	Acquired ichthyosis	79354	Disease
79355	Erythrokeratoderma	79353	Category
79356	Acrokeratoderma	79353	Category
79358	Porokeratosis	79353	Category
79359	Other epidermal disorder	79353	Category
69744	Circumscribed palmoplantar hypokeratosis	79359	Disease
69745	Warty dyskeratoma	79359	Disease
231573	Congenital erosive and vesicular dermatosis	79359	Disease
439196	Zinc-responsive necrolytic acral erythema	79359	Particular clinical situation in a disease or syndrome
498359	Aquagenic palmoplantar keratoderma	79359	Disease
254367	Rare lichen planus	79353	Category
254370	Rare cutaneous lichen planus	254367	Category
505	Graham Little-Piccardi-Lassueur syndrome	254370, 79364	Disease
525	Lichen planopilaris	254370, 79364	Disease
33408	Bullous lichen planus	254370	Disease
254379	Linear lichen planus	254370	Disease
254395	Actinic lichen planus	254370	Disease
254411	Annular atrophic lichen planus	254370	Disease
254424	Annular lichen planus	254370	Disease
254449	Atrophic lichen planus	254370	Disease
254463	Lichen planus pigmentosus	254370	Disease
254478	Lichen planus pemphigoides	254370	Disease
254492	Frontal fibrosing alopecia	254370, 79364	Disease
254373	Rare mucosal lichen planus	254367	Category
83453	Vulvovaginal gingival syndrome	180205, 254373	Disease
79362	Epidermal appendage anomaly	89826	Category
79363	Hair anomaly	79362	Category
79364	Alopecia	79363	Category
129	Pseudopelade of Brocq	79364	Disease
346	Quinquaud folliculitis decalvans	79364	Disease
700	Alopecia totalis	79364	Disease
2221	Acquired hypertrichosis lanuginosa	79365	Disease
79368	Nail anomaly	79362	Category
79144	Isolated congenital onychodysplasia	79369	Disease
79372	Sebaceous gland anomaly	79362	Category
79374	Pigmentation anomaly of the skin	89826	Category
79375	Hyperpigmentation of the skin	79374	Category
39	Acromelanosis	79375	Disease
79376	Hypopigmentation of the skin	79374	Category
79377	Dermis disorder	89826	Category
79378	Dermis elastic tissue disorder	79377	Category
228218	Acquired dermis elastic tissue disorder	79378	Category
228221	Acquired dermis elastic tissue disorder with decreased elastic tissue	228218	Category
228264	Papular elastorrhexis	228221	Disease
228272	Primary anetoderma	228221	Disease
228285	Acquired cutis laxa	228221	Disease
228290	White fibrous papulosis of the neck	228221	Disease
228293	Pseudoxanthoma elasticum-like papillary dermal elastolysis	228221	Disease
228299	Mid-dermal elastolysis	228221	Disease
221142	Confetti-like macular atrophy	228221	Disease
228224	Acquired dermis elastic tissue disorder with increased elastic tissue	228218	Category
79148	Elastosis perforans serpiginosa	228224	Disease
228227	Late-onset focal dermal elastosis	228224	Disease
228236	Linear focal elastosis	228224	Disease
228240	Elastoderma	228224	Disease
228243	Elastofibroma dorsi	228224	Disease
228247	Acquired pseudoxanthoma elasticum	228224	Disease
228254	Elastoma	228224	Disease
79379	Skin vascular disease	79377	Category
529864	Secondary erythromelalgia	496924, 79379	Disease
280065	Calciphylaxis cutis	280062, 79379	Clinical subtype
280774	Generalized essential telangiectasia	79379	Disease
280779	Cutaneous collagenous vasculopathy	79379	Disease
542643	Livedoid vasculopathy	496924, 79379	Clinical syndrome
79380	Mixed dermis disorder	79377	Category
79381	Other dermis disorder	79377	Category
671	Primary cutis verticis gyrata	79381	Clinical group
357220	Primary essential cutis verticis gyrata	671	Disease
137807	Primary cutaneous amyloidosis	79381	Clinical group
49804	Lichen amyloidosis	137807	Disease
137810	Nodular cutaneous amyloidosis	137807	Disease
137814	Macular amyloidosis	137807	Disease
319635	Amyloidosis cutis dyschromia	137807	Disease
402007	Lichen myxedematosus	79381	Clinical group
86795	Localized lichen myxedematosus	402007	Clinical group
90393	Nodular lichen myxedematosus	86795	Disease
90394	Discrete papular lichen myxedematosus	86795	Disease
90395	Papular mucinosis of infancy	86795	Disease
90396	Acral persistent papular mucinosis	86795	Disease
90397	Self-healing papular mucinosis	86795	Disease
86797	Atypical lichen myxedematosus	402007	Disease
90398	Localized lichen myxedematosus with mixed features of different subtypes	86797	Clinical subtype
90399	Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms	86797	Clinical subtype
90400	Scleromyxedema without monoclonal gammopathy	86797	Clinical subtype
167635	Scleromyxedema	402007	Disease
542592	Necrobiosis lipoidica	79381	Disease
658810	Atrophoderma of Pasini and Pierini	79381	Disease
699057	Annular erythema of infancy	79381	Disease
90076	Partial deep dermal and full thickness burns	79381	Particular clinical situation in a disease or syndrome
79382	Subcutaneous tissue disease	89826	Category
345	Dissecting cellulitis of the scalp	79382	Disease
33577	Nodular non-suppurative panniculitis	79382	Disease
36397	Adiposis dolorosa	79382	Disease
90970	Primary lipodystrophy	79382, 97978	Category
98307	Acquired lipodystrophy	90970	Category
79086	Acquired generalized lipodystrophy	181368, 98307	Disease
79087	Acquired partial lipodystrophy	98307	Disease
79088	Localized lipodystrophy	98307	Clinical group
90156	Centrifugal lipodystrophy	79088	Disease
90157	Drug-induced localized lipodystrophy	79088	Disease
90158	Idiopathic localized lipodystrophy	79088	Disease
90159	Panniculitis-induced localized lipodystrophy	79088	Disease
90160	Pressure-induced localized lipoatrophy	79088	Disease
94087	Cytophagic histiocytic panniculitis	79382	Disease
477742	Nodular fasciitis	71209, 79382	Disease
79384	Rare urticaria	89826, 98050	Category
2483	Melkersson-Rosenthal syndrome	79384	Malformation syndrome
64745	Pruritic urticarial papules and plaques of pregnancy	163637, 79384	Disease
79386	Rare skin tumor or hamartoma	89826, 98057	Category
542	Primary cutaneous lymphoma	279911, 79386	Category
171901	Primary cutaneous T-cell lymphoma	171918, 542	Category
178548	Indolent primary cutaneous T-cell lymphoma	171901	Clinical group
541	Primary cutaneous CD30+ T-cell lymphoproliferative disease	178548	Clinical group
98842	Lymphomatoid papulosis	541	Disease
300865	Primary cutaneous anaplastic large cell lymphoma	541	Disease
86884	Subcutaneous panniculitis-like T-cell lymphoma	178548	Disease
178522	Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma	178548	Disease
178566	Mycosis fungoides and variants	178548	Clinical group
2584	Classic mycosis fungoides	178566	Disease
33111	Granulomatous slack skin	178566	Disease
178512	Folliculotropic mycosis fungoides	178566	Disease
178517	Localized pagetoid reticulosis	178566	Disease
178551	Aggressive primary cutaneous T-cell lymphoma	171901	Clinical group
3162	Sézary syndrome	178551	Disease
86875	Adult T-cell leukemia/lymphoma	178551, 289635	Disease
86879	Extranodal nasal NK/T cell lymphoma	178551, 289644	Disease
86885	Primary cutaneous peripheral T-cell lymphoma not otherwise specified	178551	Disease
178528	Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma	178551	Disease
178533	Primary cutaneous gamma/delta-positive T-cell lymphoma	178551	Disease
178563	Primary cutaneous B-cell lymphoma	542	Category
178554	Aggressive primary cutaneous B-cell lymphoma	178563, 300846	Clinical group
178544	Primary cutaneous diffuse large B-cell lymphoma, leg type	178554	Disease
178557	Indolent primary cutaneous B-cell lymphoma	178563, 300842	Clinical group
178536	Primary cutaneous marginal zone B-cell lymphoma	178557	Disease
178540	Primary cutaneous follicle center lymphoma	178557	Disease
492	Proliferating trichilemmal cyst	79386	Disease
864	Trichofolliculoma	79386	Disease
2800	Extramammary Paget disease	79386, 98063	Disease
79140	Cutaneous neuroendocrine carcinoma	100101, 289635, 79386	Disease
91414	Pilomatrixoma	79386	Disease
168999	Malignant melanoma of the mucosa	79386	Disease
199257	Superficial fibromatosis	79386	Clinical group
199251	Ledderhose disease	199257	Disease
199260	Calcifying aponeurotic fibroma	199257	Disease
199267	Infantile digital fibromatosis	199257	Disease
263435	Congenital smooth muscle hamartoma	79386	Disease
294057	Rare nevus	79386	Category
2611	Linear verrucous nevus syndrome	294057	Disease
79466	Inflammatory linear verrucous epidermal nevus	2611	Clinical subtype
79467	Verrucous nevus	2611	Clinical subtype
79468	Acanthokeratolytic verrucous nevus	2611	Clinical subtype
139414	Congenital panfollicular nevus	294057	Disease
263425	Nevus of Ota	294057	Disease
263432	Nevus of Ito	294057	Disease
370039	Angora hair nevus	294057	Disease
370046	Didymosis aplasticosebacea	294057	Disease
370052	SCALP syndrome	294057	Disease
370059	NEVADA syndrome	294057	Disease
300515	Rare nail tumor	79386	Category
300504	Onychocytic matricoma	300515	Disease
300512	Onychomatricoma	300515	Disease
411777	Generalized eruptive keratoacanthoma	79386	Disease
499182	Pilomatrix carcinoma	79386	Disease
569164	Angiomatoid fibrous histiocytoma	79386	Disease
79217	Other metabolic disease with skin involvement	79387	Category
79390	Rare photodermatosis	89826	Category
97230	Solar urticaria	79390	Disease
330058	Hydroa vacciniforme	79390	Disease
330061	Actinic prurigo	79390	Disease
330064	Chronic actinic dermatitis	79390	Disease
79391	Immune deficiency with skin involvement	89826	Category
90077	Other acquired skin disease	89826	Category
94059	Uremic pruritus	90077	Particular clinical situation in a disease or syndrome
1221	Cheilitis glandularis	90077	Disease
222	Erosive pustular dermatosis of the scalp	90077	Disease
499	Kerion celsi	90077	Disease
901	Wells syndrome	90077	Disease
33314	Jessner lymphocytic infiltration of the skin	90077	Disease
36237	Bullous impetigo	300579, 90077	Disease
37559	Acquired kinky hair syndrome	90077	Disease
48377	Subcorneal pustular dermatosis	90077	Disease
79099	Interstitial granulomatous dermatitis with arthritis	182231, 90077	Disease
97352	Pellagra	90077	Disease
137617	Nephrogenic systemic fibrosis	90077	Disease
228379	Virus-associated trichodysplasia spinulosa	163585, 90077	Disease
289347	Infective dermatitis associated with HTLV-1	163585, 90077	Disease
352763	Scleredema	90077	Disease
645849	Primary cutaneous tuberculosis	3389, 90077	Disease
664787	Nicolau syndrome	90077	Clinical syndrome
615943	Granuloma faciale	90077	Disease
617408	Classic eosinophilic pustular folliculitis	90077	Disease
451602	Primary cutaneous plasmacytosis	284264, 90077	Disease
451607	Cutaneous pseudolymphoma	284264, 90077	Disease
66646	Cutaneous mastocytosis	90077, 98292	Clinical group
79455	Cutaneous mastocytoma	66646	Disease
79456	Diffuse cutaneous mastocytosis	66646	Disease
280785	Bullous diffuse cutaneous mastocytosis	79456	Clinical subtype
280794	Pseudoxanthomatous diffuse cutaneous mastocytosis	79456	Clinical subtype
79457	Maculopapular cutaneous mastocytosis	66646	Disease
90389	Telangiectasia macularis eruptiva perstans	79457	Clinical subtype
158766	Typical urticaria pigmentosa	79457	Clinical subtype
158769	Plaque-form urticaria pigmentosa	79457	Clinical subtype
158772	Nodular urticaria pigmentosa	79457	Clinical subtype
90000	Erythema elevatum diutinum	156149, 90077	Disease
290836	Systemic disease with skin involvement	89826	Category
801	Scleroderma	290836	Clinical group
90289	Localized scleroderma	801	Disease
157987	Non-Langerhans cell histiocytosis	182222, 290836	Clinical group
158014	Rosaï-Dorfman disease	157987	Disease
35687	Erdheim-Chester disease	157987, 324930	Disease
139436	Multicentric reticulohistiocytosis	157987	Disease
157991	Generalized eruptive histiocytosis	157987	Disease
157997	Benign cephalic histiocytosis	157987	Disease
158000	Juvenile xanthogranuloma	157987	Disease
158003	Xanthoma disseminatum	157987	Disease
158008	Papular xanthoma	157987	Disease
158011	Necrobiotic xanthogranuloma	157987	Disease
158019	Indeterminate cell histiocytosis	157987, 98289	Disease
158022	Progressive nodular histiocytosis	157987	Disease
158025	Hereditary progressive mucinous histiocytosis	157987	Disease
231111	Drug-induced lupus erythematosus	182222, 290836	Disease
290842	Autoinflammatory syndrome with skin involvement	290836	Category
653434	Autoinflammatory syndrome with acne and/or hidradenitis suppurativa	290842, 324927	Clinical group
641385	PASS syndrome	653434	Disease
641390	PsAPASH syndrome	653434	Disease
793	SAPHO syndrome	486955, 653434	Disease
251304	Infantile onset panniculitis with uveitis and systemic granulomatosis	290842, 324930, 324950	Disease
324964	Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis	290842, 324927, 324942	Disease
596753	VEXAS syndrome	156143, 290842, 324936	Disease
293815	Toxic dermatosis	89826	Category
502499	Erythema multiforme major	293815	Disease
95455	Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum	293815, 519288	Disease
537	Toxic epidermal necrolysis	95455	Clinical subtype
36426	Stevens-Johnson syndrome	95455	Clinical subtype
506784	Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome	95455	Clinical subtype
139402	Drug reaction with eosinophilia and systemic symptoms	293815	Disease
293173	Acute generalized exanthematous pustulosis	293815	Disease
293812	Fixed drug eruption	293815	Disease
315350	Autoimmune disease with skin involvement	89826	Category
535	Rare cutaneous lupus erythematosus	315350	Clinical group
163525	Subacute cutaneous lupus erythematosus	535	Disease
163531	Chronic cutaneous lupus erythematosus	535	Clinical group
90281	Discoid lupus erythematosus	163531	Disease
90282	Hypertrophic or verrucous lupus erythematosus	163531	Disease
90283	Lupus erythematosus tumidus	163531	Disease
90285	Lupus erythematosus panniculitis	163531	Disease
79669	Autoimmune bullous skin disease	315350	Clinical group
704	Pemphigus vulgaris	79669	Disease
1656	Dermatitis herpetiformis	79669	Disease
703	Bullous pemphigoid	79669	Disease
46485	Superficial pemphigus	79669	Clinical group
636955	Endemic pemphigus foliaceus	46485	Disease
79480	Pemphigus erythematosus	46485	Disease
79481	Pemphigus foliaceus	46485	Disease
208524	Herpetiform pemphigus	46485	Disease
46487	Epidermolysis bullosa acquisita	79669	Disease
46488	Linear IgA dermatosis	79669	Disease
63275	Pemphigoid gestationis	79669	Disease
63455	Paraneoplastic pemphigus	79669	Disease
555905	IgA pemphigus	79669	Disease
454710	Anti-p200 pemphigoid	79669	Disease
79479	Pemphigus vegetans	79669	Disease
324636	Autoerythrocyte sensitization syndrome	315350	Disease
658584	Rowell syndrome	182231, 315350	Disease
93626	Rare renal disease		Category
93548	Glomerular disease	506213, 93626	Category
34145	Immunoglobulin A nephropathy	93548	Disease
567544	Idiopathic non-lupus full-house nephropathy	93548	Clinical syndrome
567554	Systemic disease with glomerulopathy as a major feature	93548	Category
567558	Non-genetic systemic disease with glomerulopathy as a major feature	567554	Category
439232	AApoAIV amyloidosis	567558, 69	Disease
567560	Systemic vasculitis associated with glomerulopathy	567558	Category
536	Systemic lupus erythematosus	182228, 567560, 93573	Disease
728	Relapsing polychondritis	182228, 567560, 98641	Disease
397	Giant cell arteritis	156140, 567560	Disease
36258	Buerger disease	156143, 567560	Disease
3287	Takayasu arteritis	156140, 280369, 567560	Disease
93126	Pauci-immune glomerulonephritis	567560	Disease
97563	Pauci-immune glomerulonephritis with ANCA	93126	Clinical subtype
97564	Pauci-immune glomerulonephritis without ANCA	93126	Clinical subtype
442582	AH amyloidosis	567558, 69	Disease
86861	Non-amyloid monoclonal immunoglobulin deposition disease	567558, 98282	Disease
93556	Heavy chain deposition disease	86861	Clinical subtype
93557	Light and heavy chain deposition disease	86861	Clinical subtype
93558	Light chain deposition disease	86861	Clinical subtype
449395	IgG4-related kidney disease	567558, 596448	Clinical subtype
829	Adult-onset Still disease	182231, 567558	Disease
567564	Nephrotic syndrome without extrarenal manifestations	93548	Category
357502	Idiopathic nephrotic syndrome	567564	Clinical group
567548	Idiopathic steroid-resistant nephrotic syndrome	357502	Clinical syndrome
567552	Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy	567548	Clinical subtype
567550	Idiopathic multidrug-resistant nephrotic syndrome	567548	Clinical subtype
567546	Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance	357502	Clinical syndrome
69061	Idiopathic steroid-sensitive nephrotic syndrome	357502	Clinical syndrome
84087	Collagen type III glomerulopathy	93548	Disease
91137	Immunotactoid or fibrillary glomerulopathy	93548	Clinical group
97566	Non-amyloid fibrillary glomerulopathy	91137	Disease
97567	Immunotactoid glomerulopathy	91137	Disease
97560	Primary membranous glomerulonephritis	93548	Disease
93573	Thrombotic microangiopathy	93626	Clinical group
54057	Thrombotic thrombocytopenic purpura	248368, 506213, 93573	Disease
93585	Immune-mediated thrombotic thrombocytopenic purpura	54057	Clinical subtype
544458	Hemolytic uremic syndrome	506213, 93573	Clinical group
544482	Infection-related hemolytic uremic syndrome	182047, 544458	Disease
90038	Shiga toxin-associated hemolytic uremic syndrome	544482	Clinical subtype
544493	Streptococcus pneumoniae-associated hemolytic uremic syndrome	544482	Clinical subtype
244275	De novo thrombotic microangiopathy after kidney transplantation	565779, 93573	Particular clinical situation in a disease or syndrome
93603	Rare renal tubular disease	93626	Category
91136	Acquired monoclonal Ig light chain-associated Fanconi syndrome	506213, 93603	Disease
91500	Tubulointerstitial nephritis and uveitis syndrome	280926, 93603	Disease
444916	Pseudohypoaldosteronism	93603	Clinical group
93164	Transient pseudohypoaldosteronism	444916	Disease
93618	Rare cause of hypertension	93626	Category
688649	Isolated adrenal medullary hyperplasia	101954, 93618	Disease
93619	Rare renal tumor	93626, 98057	Category
464359	Benign metanephric tumor	93619	Disease
2665	Congenital mesoblastic nephroma	506213, 93619	Disease
97366	Multiloculated renal cyst	506213, 93619	Morphological anomaly
217071	Renal cell carcinoma	506213, 93619	Clinical group
247203	Collecting duct carcinoma	217071	Disease
319276	Clear cell renal carcinoma	217071	Disease
319287	Multilocular cystic renal neoplasm of low malignant potential	319276	Histopathological subtype
404511	Clear cell papillary renal cell carcinoma	319276	Histopathological subtype
319298	Papillary renal cell carcinoma	217071	Disease
319303	Chromophobe renal cell carcinoma	217071	Disease
319308	MiT family translocation renal cell carcinoma	217071	Disease
319319	Renal medullary carcinoma	217071	Disease
319322	Mucinous tubular and spindle cell renal carcinoma	217071	Disease
319325	Tubulocystic renal cell carcinoma	217071	Disease
404514	Acquired cystic disease-associated renal cell carcinoma	217071	Disease
268316	Complication in hemodialysis	93626	Particular clinical situation in a disease or syndrome
664912	Neonatal renal venous thrombosis	93626	Disease
97966	Rare ophthalmic disorder		Category
101950	Rare eye tumor	97966, 98057	Category
658590	Eyelid sebaceous carcinoma	101950	Disease
659744	Ocular surface squamous neoplasia	101950	Disease
716204	Rare neoplastic choroidal disorder	101950, 519309	Category
716207	Rare benign neoplastic choroidal disorder	716204	Category
674965	Choroidal osteoma	716207	Disease
716210	Rare malignant neoplastic choroidal disorder	716204	Category
714046	Primary choroidal lymphoma	716210	Disease
39044	Uveal melanoma	716210	Disease
716198	Rare paraneoplastic choroidal disorder	101950, 519309	Category
674968	Bilateral diffuse uveal melanocytic proliferation disease	716198	Disease
790	Retinoblastoma	101950	Disease
357034	Non-hereditary retinoblastoma	790	Clinical subtype
52994	Orbital leiomyoma	101950	Disease
268139	Intraocular medulloepithelioma	101950	Disease
440727	Combined hamartoma of the retina and retinal pigment epithelium	101950, 716432	Disease
617910	Conjunctival malignant melanoma	101950	Disease
520814	Rare disorder of the visual organs	97966	Category
140653	Neuro-ophthalmological disease	520814	Category
519349	Rare ophthalmic disorder with cranial nerve involvement	140653	Category
519351	Rare optic nerve disorder	519349	Category
499047	Autoimmune/inflammatory optic neuropathy	519351	Clinical group
499103	Recurrent idiopathic neuroretinitis	499047	Disease
499107	Idiopathic optic perineuritis	499047	Disease
674947	Diffuse unilateral subacute neuroretinitis	163588, 519351, 716410	Disease
519355	Rare ocular motility/alignment disorder	140653	Category
519347	Rare neuromuscular disorder with ocular motility/alignment anomaly	519355	Category
98681	Rare disorder with strabismus	519355	Category
98683	Syndromic disorder with strabismus	98681	Category
519343	Rare ophthalmic disorder with cortical involvement	140653	Category
420556	Visual snow syndrome	519343	Disease
519341	Rare brainstem or cerebellar disorder with ophthalmic involvement as a major feature	140653	Category
279882	Spasmus nutans	519341	Clinical syndrome
519298	Rare scleral disorder	520814	Category
648559	Rare scleritis	519298	Clinical group
648681	Immune-mediated scleritis	648559	Disease
648675	Idiopathic scleritis	648559	Disease
648665	Infectious scleritis	648559	Disease
98715	Uveitis	520814	Category
279914	Intermediate uveitis	98715	Disease
280886	Anterior uveitis	98715	Category
280914	Isolated idiopathic anterior uveitis	280886	Disease
279922	Infectious anterior uveitis	280886	Disease
280926	Systemic diseases with anterior uveitis	280886	Category
306648	Non-infectious anterior uveitis	280886	Category
79098	Sympathetic ophthalmia	306648	Disease
209959	Phacoanaphylactic uveitis	306648	Disease
263479	Fuchs heterochromic iridocyclitis	306648	Disease
280892	Posterior uveitis	98715	Category
90061	Non-infectious posterior uveitis	280892	Category
179	Birdshot chorioretinopathy	716195, 90061	Disease
35686	Serpiginous choroiditis	716195, 716348, 90061	Disease
279928	Paraneoplastic uveitis	90061	Disease
280917	Idiopathic posterior uveitis	90061	Disease
580951	Punctate inner choroidopathy	716195, 90061	Disease
279919	Infectious posterior uveitis	280892	Disease
280930	Systemic diseases with posterior uveitis	280892	Category
280898	Panuveitis	98715	Category
279925	Infectious panuveitis	280898	Disease
280921	Idiopathic panuveitis	280898	Disease
280933	Systemic diseases with panuveitis	280898	Category
519311	Rare disorder of the posterior segment of the eye	520814	Category
519309	Rare choroidal disorder	519311	Category
716195	Rare inflammatory choroidal disorder	519309	Category
714154	Idiopathic multifocal choroiditis	716195	Disease
714164	Acute posterior multifocal placoid pigment epitheliopathy	716195	Disease
716201	Rare vascular choroidal disorder	519309	Category
519315	Rare retinal disorder	519311	Category
716290	Rare predominantly chorioretinal disorder	519315	Category
716293	Rare non-progressive predominantly chorioretinal disorder	716290	Category
716296	Rare isolated non-progressive predominantly chorioretinal disorder	716293	Category
674953	Multiple evanescent white dot syndrome	716296	Disease
715862	Melanocytoma of the optic disc and optic nerve	716296	Disease
716304	Rare progressive predominantly chorioretinal disorder	716290	Category
716348	Rare isolated progressive predominantly chorioretinal disorder	716304	Category
165958	Cavitary myiasis	716348, 75110	Disease
443079	Central serous chorioretinopathy	716348	Disease
716358	Rare generalized retinal disorder	519315	Category
716361	Rare progressive generalized retinal disorder	716358	Category
716410	Rare isolated progressive generalized retinal disorder	716361	Category
284454	Acute zonal occult outer retinopathy	716410	Disease
714109	Ocular siderosis	716410	Disease
695631	Primary vitreoretinal large B-cell lymphoma	716410	Disease
519317	Rare retinal vasculopathy	519315	Category
716450	Rare non-progressive retinal vasculopathy	519317	Category
648684	Central retinal artery occlusion	716450	Disease
411527	Central retinal vein occlusion	716450	Particular clinical situation in a disease or syndrome
674930	Perifoveal exudative vascular anomalous complex	716450	Disease
674924	Isolated retinal racemose hemangioma	716450	Disease
716455	Rare progressive retinal vasculopathy	519317	Category
716466	Rare isolated progressive retinal vasculopathy	716455	Category
716459	Rare disorder with progressive retinal vasculopathy as a major feature	716455	Category
90050	Retinopathy of prematurity	716459	Disease
40923	Eales disease	716459	Disease
519313	Rare macular disorder	519315	Category
716413	Rare non-progressive predominantly macular disorder	519313	Category
716419	Rare isolated non-progressive predominantly macular disorder	716413	Category
714101	Acute idiopathic maculopathy	716419	Disease
488239	Acute macular neuroretinopathy	716419	Disease
674935	Torpedo Maculopathy	716419	Disease
716416	Rare progressive predominantly macular disorder	519313	Category
716432	Rare isolated progressive predominantly macular disorder	716416	Category
284460	Acute annular outer retinopathy	716432	Disease
97341	Persistent placoid maculopathy	716432	Disease
279894	Toxic maculopathy due to antimalarial drugs	716432	Disease
715855	Acute exudative polymorphous vitelliform maculopathy	716432	Disease
715845	Idiopathic Acute exudative polymorphous vitelliform maculopathy	715855	Clinical subtype
715850	Paraneoplastic acute exudative polymorphous vitelliform maculopathy	715855	Clinical subtype
2737	Onchocerciasis	2034, 716432	Disease
714150	Stellate non-hereditary idiopathic foveomacular retinoschisis	716432	Disease
519329	Rare disorder involving multiple structures of the eye	520814	Category
199323	Endophthalmitis	519329	Disease
279888	Acute endophthalmitis	199323	Clinical subtype
279891	Chronic endophthalmitis	199323	Clinical subtype
449563	IgG4-related ophthalmic disease	519329, 596448	Clinical subtype
523000	Pediatric-onset glaucoma	519329	Category
519331	Secondary early-onset glaucoma	523000	Category
636950	Glaucomatocyclitic crisis disease	519329	Disease
90080	Scarring in glaucoma filtration surgical procedures	519329	Particular clinical situation in a disease or syndrome
519266	Rare disorder of the ocular adnexa	520814	Category
98602	Rare disorder of the lacrimal apparatus	519266	Category
519264	Inflammatory/autoimmune disorder involving the lacrimal system	98602	Category
79078	IgG4-related dacryoadenitis and sialadenitis	519264, 596448, 98036	Clinical subtype
519284	Rare disorder of the anterior segment of the eye	520814	Category
98610	Rare disorder with conjunctival involvement as a major feature	519284	Category
99922	Ocular cicatricial pemphigoid	98610	Disease
519280	Rare conjunctivitis	98610	Category
1482	Gonococcal conjunctivitis	519280	Disease
70476	Vernal keratoconjunctivitis	519280, 98623	Disease
88633	Superior limbic keratoconjunctivitis	519280	Disease
163934	Atopic keratoconjunctivitis	519280	Disease
2989	Familial pterygium of the conjunctiva	98610	Morphological anomaly
519282	Rare corneal disorder	519284	Category
171673	Limbal stem cell deficiency	519282	Disease
519288	Rare disorder with corneal involvement as a major feature	519282	Category
34533	Corneal dystrophy	519288	Category
98625	Superficial corneal dystrophy	34533	Category
98958	Climatic droplet keratopathy	98625	Disease
98623	Syndromic keratoconus	519288	Category
519290	Rare inflammatory/autoimmune corneal disorder	519288	Category
314017	Idiopathic linear interstitial keratitis	519290	Disease
1467	Cogan syndrome	156140, 280369, 519290, 98036	Disease
519278	Infective keratitis	519290	Category
137593	Infectious epithelial keratitis	519278	Disease
67043	Amoebic keratitis	163588, 519278	Disease
519930	Fungal keratitis	519278	Disease
137599	Herpes simplex virus stromal keratitis	519278	Disease
137602	Corneal endotheliitis	519278	Disease
137596	Neurotrophic keratopathy	519278	Disease
519406	Thygeson superficial punctate keratitis	519290	Disease
519408	Mooren ulcer	519288	Disease
137672	Pellucid marginal degeneration	519288	Disease
519410	Terrien marginal degeneration	519288	Disease
98639	Rare lens disease	519284	Category
98640	Rare disorder with lens opacification	98639	Category
98641	Syndromic cataract	98640	Category
519286	Rare disorder of the pupil	519284	Category
454718	Holmes-Adie syndrome	519286	Disease
97978	Rare endocrine disease		Category
877	Neuroendocrine neoplasm	182130, 97978	Category
100093	Carcinoid syndrome	877	Clinical syndrome
100092	Gastroenteropancreatic neuroendocrine neoplasm	877	Category
481508	Gastroenteric neuroendocrine neoplasm	100092	Category
100101	Neuroendocrine tumor with other location	877	Category
100083	Laryngeal neuroendocrine tumor	100101, 98061	Disease
100084	Middle ear neuroendocrine tumor	100101, 98061	Disease
213731	High-grade neuroendocrine carcinoma of the corpus uteri	100101, 213569	Disease
97289	Thymic neuroendocrine tumor	100100, 100101	Disease
213777	High-grade neuroendocrine carcinoma of the cervix uteri	100101, 213761	Disease
99869	Thymic neuroendocrine carcinoma	100101, 3398	Disease
263331	Well-differentiated thymic neuroendocrine carcinoma	99869	Histopathological subtype
263335	Moderately-differentiated thymic neuroendocrine carcinoma	99869	Histopathological subtype
263339	Poorly differentiated thymic neuroendocrine carcinoma	99869	Histopathological subtype
68415	Rare parathyroid disease and phosphocalcic metabolism anomaly	97978	Category
100090	Rare parathyroid tumor	182130, 68415	Category
143	Parathyroid carcinoma	100090, 181408	Disease
181405	Rare hypoparathyroidism	68415	Category
36913	Autoimmune hypoparathyroidism	181405	Disease
140286	Secondary hypoparathyroidism due to impaired parathormon secretion	181405	Disease
181408	Rare hyperparathyroidism	68415	Category
300493	Sagliker syndrome	181408, 93419	Particular clinical situation in a disease or syndrome
90692	Rare endocrine growth disease	97978	Category
178045	Transient congenital hypothyroidism	442	Clinical group
238696	Transient congenital hypothyroidism due to maternal factor	178045	Category
95715	Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies	238696	Disease
226313	Congenital hypothyroidism due to maternal intake of antithyroid drugs	238696	Disease
238699	Transient congenital hypothyroidism due to neonatal factor	178045	Category
238688	Neonatal iodine exposure	238699	Disease
95708	Rare precocious puberty	90692	Category
650063	Rare central precocious puberty	95708	Clinical group
649929	Central precocious puberty in male	650063	Clinical group
650087	Primary central precocious puberty in male	649929	Disease
650102	Non-genetic central precocious puberty in male	650087	Clinical subtype
650092	Secondary central precocious puberty in male	649929	Disease
650070	Rare central precocious puberty in female	435561, 650063	Clinical group
650082	Secondary central precocious puberty in female	650070	Disease
95710	Rare non-acquired premature ovarian failure	180208, 90692	Category
101952	Rare diabetes mellitus	97978	Category
181371	Rare diabetes mellitus type 1	101952	Category
227982	Autoimmune polyendocrinopathy type 3	177101, 181371, 282196	Disease
181376	Rare diabetes mellitus type 2	101952	Category
181381	Other rare diabetes mellitus	101952	Category
101954	Rare adrenal disease	97978	Category
641613	Endogenous Cushing syndrome	101954	Category
647758	Adrenal Cushing syndrome	641613	Clinical group
314749	Rare disease with adrenal Cushing syndrome as a major feature	647758	Category
1501	Adrenocortical carcinoma	100091, 314749	Disease
647768	Rare adrenocortical nodular disease with Cushing syndrome as a major feature	314749	Clinical group
647772	Isolated primary pigmented nodular adrenocortical disease	647768, 649017	Disease
647782	Isolated micronodular adrenocortical disease	647768, 649017	Disease
642788	Cushing syndrome due to cortisol-producing adrenocortical adenoma	647758	Disease
99892	ACTH-dependent Cushing syndrome	399584, 399849, 641613	Clinical group
96253	Cushing disease	314753, 715120, 99892	Disease
100091	Adrenal/paraganglial tumor	101954, 182130	Category
649017	Rare adrenocortical nodular disease	100091	Clinical group
573163	Pheochromocytoma-paraganglioma	100091	Clinical group
276621	Sporadic pheochromocytoma/secreting paraganglioma	573163	Disease
94080	Non-functioning paraganglioma	573163	Disease
91351	Pituitary dermoid and epidermoid cysts	100091, 95503	Disease
101958	Primary adrenal insufficiency	101954	Category
95409	Acute adrenal insufficiency	101958	Clinical syndrome
100067	Waterhouse-Friderichsen syndrome	95409	Clinical subtype
319205	Bilateral massive adrenal hemorrhage	95409	Etiological subtype
101959	Chronic primary adrenal insufficiency	101958	Category
101963	Acquired chronic primary adrenal insufficiency	101959	Category
85138	Addison disease	101963	Disease
181415	Rare primary hyperaldosteronism	101954	Category
231637	Rare surgically correctable form of primary aldosteronism	181415	Category
231580	Primary unilateral adrenal hyperplasia	231637	Disease
231625	Adrenocortical carcinoma with pure aldosterone hypersecretion	231637	Disease
231641	Rare non surgically correctable form of primary aldosteronism	181415	Category
231632	Ectopic aldosterone-producing tumor	231641	Disease
181419	Rare hypoaldosteronism	101954	Category
101955	Rare thyroid disease	97978	Category
95718	Congenital thyroid malformation without hypothyroidism	101955	Category
100087	Rare thyroid tumor	101955, 182130	Category
100088	Rare thyroid carcinoma	100087	Category
146	Differentiated thyroid carcinoma	100088	Disease
142	Anaplastic thyroid carcinoma	100088	Disease
1332	Medullary thyroid carcinoma	100088	Disease
97285	Thyroid lymphoma	100087, 279911	Disease
177101	Rare adult hypothyroidism	181396	Category
64744	IgG4-related thyroid disease	177101, 596448	Clinical subtype
525731	Pediatric-onset Graves disease	181399	Disease
101956	Polyendocrinopathy	97978	Category
282196	Autoimmune polyendocrinopathy	101956	Clinical group
227990	Autoimmune polyendocrinopathy type 4	282196	Disease
181384	Rare hypothalamic or pituitary disease	97978	Category
1672	Diencephalic syndrome	181384	Disease
95502	Acquired pituitary hormone deficiency	101957	Category
95503	Pituitary hormone deficiency of tumoral origin	95502	Category
91350	Pituitary deficiency due to Rathke cleft cysts	95503	Disease
99408	Pituitary adenoma	304055, 95503	Clinical group
91349	Non-functioning pituitary adenoma	99408	Disease
314786	Silent pituitary adenoma	91349	Histopathological subtype
314790	Null pituitary adenoma	91349	Histopathological subtype
314753	Functioning pituitary adenoma	99408	Clinical group
2965	Prolactinoma	314753, 399572, 399831, 715120	Disease
91347	TSH-secreting pituitary adenoma	314753, 715120	Disease
91348	Functioning gonadotropic adenoma	314753, 715120	Disease
96256	Somatotropic adenoma	314753	Clinical group
963	Acromegaly	399831, 715120, 96256	Disease
99725	Pituitary gigantism	715120, 96256	Disease
199244	Nelson syndrome	314753, 715120	Clinical syndrome
314759	Mixed functioning pituitary adenoma	314753	Category
314769	Somatomammotropinoma	314759, 715120	Disease
314777	Familial isolated pituitary adenoma	715120, 99408	Disease
95505	Pituitary hormone deficiency of meningeal origin	95502	Category
91354	Pituitary deficiency due to empty sella turcica syndrome	95505	Disease
95506	Primary hypophysitis	95502	Clinical group
95512	Adenohypophysitis	95506	Disease
95513	Panhypophysitis	95506	Disease
238305	Infundibulo-neurohypophysitis	95506	Disease
95611	Pituitary hormone deficiency of vascular origin	95502	Category
91355	Sheehan syndrome	95611	Malformation syndrome
95613	Pituitary apoplexy	95502	Disease
95617	Pituitary hormone deficiency secondary to a granulomatous disease	95502	Category
645854	Multifocal tuberculosis	3389, 95617	Disease
95618	Pituitary hormone deficiency secondary to storage disease	95502	Category
95619	Post-traumatic pituitary deficiency	95502	Disease
199299	Late-onset isolated ACTH deficiency	95502	Disease
641350	Immunotherapy induced hypophysitis	95502	Disease
178029	Arginine vasopressin deficiency	101957	Disease
95626	Acquired arginine vasopressin deficiency	178029	Clinical subtype
689401	Acquired hypothalamic obesity	181384	Disease
715120	Hyperpituitarism	181384	Category
443095	Hyperinsulinemic hypoglycaemia	97978	Category
411593	Insulin autoimmune syndrome	443095	Disease
97992	Rare hematologic disease		Category
68347	Tumor of hematopoietic and lymphoid tissues	97992, 98057	Category
98292	Mastocytosis	68347	Category
2467	Systemic mastocytosis	98292	Clinical group
98848	Indolent systemic mastocytosis	2467	Disease
98849	Systemic mastocytosis with associated hematologic neoplasm	2467	Disease
98850	Aggressive systemic mastocytosis	2467	Disease
98851	Mast cell leukemia	2467	Disease
566393	Acute mast cell leukemia	98851	Clinical subtype
566396	Chronic mast cell leukemia	98851	Clinical subtype
158775	Smoldering systemic mastocytosis	2467	Disease
158778	Isolated bone marrow mastocytosis	2467	Disease
66661	Mast cell sarcoma	98292	Disease
66662	Extracutaneous mastocytoma	98292	Disease
171895	Myeloid hemopathy	506219, 68347	Category
519	Acute myeloid leukemia	171895	Clinical group
86845	Acute myeloid leukaemia with myelodysplasia-related features	519	Disease
86846	Therapy related acute myeloid leukemia and myelodysplastic syndrome	519	Category
102379	Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent	86846	Disease
102381	Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor	86846	Disease
164726	Acute myeloid leukemia and myelodysplastic syndromes related to radiation	521132, 86846	Disease
86851	Acute leukemia of ambiguous lineage	519	Category
530995	Mixed phenotype acute leukemia	86851	Disease
589534	Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)	530995	Etiological subtype
589595	Mixed phenotype acute leukemia with t(v;11q23.3)	530995	Etiological subtype
98835	Acute undifferentiated leukemia	86851	Disease
98277	Acute myeloid leukemia with recurrent genetic anomaly	519	Category
520	Acute promyelocytic leukemia	98277	Disease
98829	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	98277	Disease
98831	Acute myeloid leukemia with 11q23 abnormalities	98277	Disease
102724	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	98277	Disease
370026	Acute myeloid leukemia with t(8;16)(p11;p13) translocation	98277	Disease
402014	Acute myeloid leukemia with t(6;9)(p23;q34)	98277	Disease
402017	Acute myeloid leukemia with t(9;11)(p22;q23)	98277	Disease
402020	Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)	98277	Disease
402023	Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)	98277	Disease
402026	Acute myeloid leukemia with NPM1 somatic mutations	98277	Disease
585867	Acute myeloid leukemia with t(9;22)(q34.1;q11.2)	98277	Disease
167714	Unclassified acute myeloid leukemia	519	Category
318	Acute erythroid leukemia	167714	Disease
518	Acute megakaryoblastic leukemia	167714	Disease
99887	Acute megakaryoblastic leukemia in children with Down syndrome	518	Clinical subtype
329469	Acute megakaryoblastic leukemia in children without Down syndrome	518	Clinical subtype
662934	Acute megakaryoblastic leukemia in adult	518	Clinical subtype
86843	Acute panmyelosis with myelofibrosis	167714	Disease
86849	Acute basophilic leukemia	167714	Disease
86850	Myeloid sarcoma	167714	Disease
98832	Acute myeloid leukemia with minimal differentiation	167714	Disease
98833	Acute myeloblastic leukemia without maturation	167714	Disease
98834	Acute myeloblastic leukemia with maturation	167714	Disease
517	Acute myelomonocytic leukemia	167714	Disease
514	Acute monoblastic/monocytic leukemia	167714	Disease
52688	Myelodysplastic syndrome	171895	Clinical group
75564	Acquired idiopathic sideroblastic anemia	1047, 52688	Disease
86836	Refractory cytopenia with multilineage dysplasia	52688	Clinical group
98826	Myelodysplastic neoplasm with low blasts	86836	Disease
98827	Unclassified myelodysplastic syndrome	86836	Disease
86839	Myelodysplastic neoplasm with increased blasts	52688	Disease
100019	Myelodysplastic neoplasm with increased blasts type 1	86839	Clinical subtype
100020	Myelodysplastic neoplasm with increased blasts type 2	86839	Clinical subtype
86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	52688	Disease
168960	Refractory anemia with excess blasts in transformation	52688	Disease
495930	Familial monosomy 7 syndrome	52688	Disease
98274	Myeloproliferative neoplasm	171895	Clinical group
3318	Essential thrombocythemia	248404, 98274	Disease
521	Chronic myeloid leukemia	98274	Disease
824	Primary myelofibrosis	164823, 98274	Disease
729	Polycythemia vera	98274, 98427	Disease
86829	Chronic neutrophilic leukemia	98274	Disease
86830	Chronic myeloproliferative disease, unclassifiable	98274	Disease
168940	Chronic eosinophilic leukemia	98274	Disease
420611	Transient myeloproliferative syndrome	98274	Disease
98275	Myelodysplastic/myeloproliferative disease	171895	Clinical group
86834	Juvenile myelomonocytic leukemia	98275	Disease
98823	Chronic myelomonocytic leukemia	98275	Disease
98824	Atypical chronic myeloid leukemia	98275	Disease
98825	Unclassified myelodysplastic/myeloproliferative disease	98275	Disease
168943	Myeloid/lymphoid neoplasms associated with eosinophilia and abnormality of PDGFRA, PDGFRB, FGFR1 or JAK2	171895	Category
168947	Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement	168943	Disease
168950	Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement	168943	Disease
168953	Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement	168943	Disease
589542	Myeloid/lymphoid neoplasm associated with JAK2 rearrangement	168943	Disease
171898	Lymphoid hemopathy	506219, 68347	Category
98282	Plasma cell tumor	171898	Category
86864	Heavy chain disease	98282	Disease
100024	Mu-heavy chain disease	86864	Clinical subtype
100025	Alpha-heavy chain disease	86864	Clinical subtype
100026	Gamma-heavy chain disease	86864	Clinical subtype
454714	Plasma cell leukemia	98282	Disease
98287	Histiocytic and dendritic cell tumor	171898	Category
98288	Macrophage or histiocytic tumor	98287	Category
86896	Histiocytic sarcoma	98288	Disease
98289	Dendritic cell tumor	98287	Category
86897	Langerhans cell sarcoma	98289	Disease
86900	Interdigitating dendritic cell sarcoma	98289	Disease
86903	Dendritic cell sarcoma not otherwise specified	98289	Disease
98290	Immunodeficiency-associated lymphoproliferative disease	171898	Category
70568	Post-transplant lymphoproliferative disease	171918, 289644, 98290	Disease
86904	Methotrexate-associated lymphoproliferative disorders	98290	Disease
98291	Lymphoproliferative disease associated with primary immune disease	98290	Category
223735	Lymphoma	171898	Category
547	Non-Hodgkin lymphoma	223735	Category
513	Acute lymphoblastic leukemia	547	Clinical group
99860	Precursor B-cell acute lymphoblastic leukemia	513	Disease
99861	Precursor T-cell acute lymphoblastic leukemia	513	Disease
171915	B-cell non-Hodgkin lymphoma	547	Category
300842	Indolent B-cell non-Hodgkin lymphoma	171915	Category
545	Follicular lymphoma	300842	Disease
58017	Classic hairy cell leukemia	300842	Disease
67038	B-cell chronic lymphocytic leukemia	300842	Disease
300878	Hairy cell leukemia variant	300842	Disease
300912	Marginal zone lymphoma	300842	Clinical group
52417	MALT lymphoma	300912	Disease
86854	Splenic marginal zone lymphoma	300912	Disease
86867	Nodal marginal zone B-cell lymphoma	300912	Disease
300869	Splenic diffuse red pulp small B-cell lymphoma	300912	Disease
443159	Lymphoplasmacytic lymphoma without IgM production	300842	Disease
300846	Aggressive B-cell non-Hodgkin lymphoma	171915	Category
543	Burkitt lymphoma	289644, 300846	Disease
544	Diffuse large B-cell lymphoma	300846	Clinical group
86869	Lymphomatoid granulomatosis	289644, 544	Disease
98838	Primary mediastinal large B-cell lymphoma	544	Disease
98839	Intravascular large B-cell lymphoma	544	Disease
289661	Epstein-Barr virus-positive diffuse large B-cell lymphoma	289644, 544	Disease
300849	Diffuse large B-cell lymphoma of the central nervous system	544	Disease
300857	T-cell/histiocyte rich large B cell lymphoma	544	Disease
300888	Diffuse large B-cell lymphoma with chronic inflammation	289644, 544	Disease
364043	ALK-positive large B-cell lymphoma	544	Disease
48686	Primary effusion lymphoma	102024, 289644, 300846	Disease
52416	Mantle cell lymphoma	300846	Disease
86852	B-cell prolymphocytic leukemia	300846	Disease
289666	Plasmablastic lymphoma	289644, 300846	Disease
480541	High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement	300846	Disease
171918	T-cell non-Hodgkin lymphoma	547	Category
86870	Blastic plasmacytoid dendritic cell neoplasm	171918	Disease
86871	T-cell prolymphocytic leukemia	171918	Disease
86882	Hepatosplenic T-cell lymphoma	171918	Disease
86886	Angioimmunoblastic T-cell lymphoma	171918	Disease
98841	Anaplastic large cell lymphoma	171918	Disease
300895	ALK-positive anaplastic large cell lymphoma	98841	Histopathological subtype
300903	ALK-negative anaplastic large cell lymphoma	98841	Histopathological subtype
364033	Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood	171918, 289644	Disease
364039	Hydroa vacciniforme-like lymphoma	171918, 289644	Disease
667662	Breast implant-associated anaplastic large cell lymphoma	171918	Disease
512034	Large granular lymphocyte leukemia	171918	Clinical group
86872	T-cell large granular lymphocyte leukemia	178996, 512034	Disease
86873	Aggressive NK-cell leukemia	512034	Disease
512017	Chronic lymphoproliferative disorder of natural killer cells	512034	Disease
652650	Nodal T-follicular helper cell lymphoma, follicular type	171918	Disease
98293	Hodgkin lymphoma	223735, 289644	Clinical group
391	Classic Hodgkin lymphoma	98293	Disease
98843	Classic Hodgkin lymphoma, nodular sclerosis type	391	Histopathological subtype
98844	Classic Hodgkin lymphoma, mixed cellularity type	391	Histopathological subtype
98845	Classic Hodgkin lymphoma, lymphocyte-rich type	391	Histopathological subtype
98846	Classic Hodgkin lymphoma, lymphocyte-depleted type	391	Histopathological subtype
86893	Nodular lymphocyte predominant Hodgkin lymphoma	98293	Disease
168966	Composite lymphoma	223735	Disease
279911	Primary organ-specific lymphoma	223735	Category
314684	Primary bone lymphoma	279911	Disease
319667	Primary lymphoma of the conjunctiva	279911	Disease
300324	Persistent polyclonal B-cell lymphocytosis	171898	Disease
160	Castleman disease	171898	Disease
93685	Unicentric Castleman disease	160	Clinical subtype
570438	HHV-8-associated multicentric Castleman disease	102024, 160	Clinical subtype
570431	Idiopathic multicentric Castleman disease	160	Clinical subtype
529468	Monoclonal mast cell activation syndrome	68347	Disease
707993	Methemoglobinemia-related cyanosis	97992	Category
464453	Acquired methemoglobinemia	707993	Disease
98427	Polycythemia	97992	Clinical group
238547	Acquired secondary polycythemia	98428	Category
90041	Gaisböck syndrome	238547, 248365	Disease
98429	Rare coagulation disorder	97992	Category
182054	Rare thrombotic disease of hematologic origin	98429	Category
248358	Rare thrombotic disorder due to a coagulation factors defect	182054	Category
248365	Rare thrombotic disorder due to an acquired coagulation factors defect	248358	Category
698914	Platelet-activating anti-platelet factor 4 disorder	182228, 248365	Clinical group
3325	Classic heparin-induced thrombocytopenia	698914	Disease
698945	Autoimmune heparin-induced thrombocytopenia	698914	Disease
699021	Spontaneous heparin-induced thrombocytopenia	698914	Disease
699029	Vaccine-induced immune thrombotic thrombocytopenia	698914	Disease
464343	Catastrophic antiphospholipid syndrome	182228, 248365	Disease
26349	Protein S acquired deficiency	248365	Disease
49566	Acquired purpura fulminans	248365	Disease
80	Antiphospholipid syndrome	163637, 182228, 248365	Disease
248368	Rare thrombotic disorder due to a platelet anomaly	182054	Category
248404	Rare thrombotic disorder due to an acquired platelet anomaly	248368	Category
248308	Rare hemorrhagic disorder	98429	Category
248315	Rare hemorrhagic disorder due to a coagulation factors defect	248308	Category
166775	Rare hemorrhagic disorder due to an acquired coagulation factor defect	248315	Category
26348	Acquired prothrombin deficiency	166775	Disease
99147	Acquired von Willebrand syndrome	166775	Disease
599507	Acquired factor XI deficiency	166775	Disease
599495	Acquired factor VII deficiency	166775	Disease
599501	Acquired factor X deficiency	166775	Disease
599480	Acquired hemophilia A	166775	Disease
599490	Acquired factor V deficiency	166775	Disease
599485	Acquired hemophilia B	166775	Disease
599513	Acquired factor XIII deficiency	166775	Disease
248326	Rare hemorrhagic disorder due to a platelet anomaly	248308	Category
248347	Rare hemorrhagic disorder due to an acquired platelet anomaly	248326	Category
457077	TAFRO syndrome	182222, 248347	Disease
244242	HELLP syndrome	163637, 248347	Disease
853	Fetal and neonatal alloimmune thrombocytopenia	248347	Disease
71203	Autoimmune thrombocytopenia	248347	Clinical group
3002	Immune thrombocytopenia	71203	Disease
1959	Evans syndrome	71203, 98375	Disease
108997	Rare anemia	97992	Category
1047	Sideroblastic anemia	108997	Category
68364	Hemoglobinopathy	108997, 506219	Category
98363	Rare hemolytic anemia	108997	Category
182047	Rare acquired hemolytic anemia	98363	Category
98375	Autoimmune hemolytic anemia	182047	Clinical group
228312	Autoimmune hemolytic anemia, cold type	98375	Clinical group
56425	Cold agglutinin disease	228312	Disease
90035	Paroxysmal cold hemoglobinuria	228312	Disease
90033	Autoimmune hemolytic anemia, warm type	98375	Disease
90036	Mixed-type autoimmune hemolytic anemia	98375	Disease
90037	Drug-induced autoimmune hemolytic anemia	98375	Disease
275938	Hemolytic disease due to fetomaternal alloimmunization	182047	Category
275944	Hemolytic disease of the newborn with Kell alloimmunization	275938	Disease
182040	Rare aplastic anemia	108997, 506219	Category
164823	Rare acquired aplastic anemia	182040	Category
88	Idiopathic aplastic anemia	164823	Disease
98421	Primary acquired red cell aplasia	164823	Clinical group
98871	Transient erythroblastopenia of childhood	98421	Disease
98872	Primary acquired pure red cell aplasia	98421	Disease
248293	Rare deficiency anemia	108997	Category
248302	Rare acquired deficiency anemia	248293	Category
450322	Polyclonal hyperviscosity syndrome	97992	Clinical syndrome
617294	Twin anemia-polycythemia sequence	617310, 97992	Disease
570470	Ricin poisoning	556508, 97992	Disease
98004	Rare immune disease		Category
39812	Graft versus host disease	565779, 98004	Disease
99920	Acute graft versus host disease	39812	Clinical subtype
99921	Chronic graft versus host disease	39812	Clinical subtype
95431	Twin to twin transfusion syndrome	617310, 98004	Disease
231205	Common variable immunodeficiency without known genetic defect	696851	Disease
158032	Hemophagocytic syndrome	98004	Category
158041	Secondary hemophagocytic lymphohistiocytosis	158032	Category
158048	Hemophagocytic syndrome associated with an infection	158041	Particular clinical situation in a disease or syndrome
158057	Acquired hemophagocytic lymphohistiocytosis associated with malignant disease	158041	Particular clinical situation in a disease or syndrome
158061	Macrophage activation syndrome	158041, 182222, 506210	Clinical syndrome
310050	Acquired immunodeficiency	98004	Category
90081	AIDS wasting syndrome	310050	Particular clinical situation in a disease or syndrome
169105	Thymoma-hypogammaglobulinemia syndrome	310050	Disease
178996	Acquired neutropenia	310050	Category
464370	Neonatal alloimmune neutropenia	178996	Disease
2688	Adult idiopathic neutropenia	178996	Disease
47612	Felty syndrome	178996, 182231	Disease
306431	Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies	310050	Disease
98023	Rare systemic or rheumatologic disease		Category
658	Non-histaminic angioedema	98023, 98050	Clinical group
91385	Acquired angioedema	658	Clinical group
528663	Acquired angioedema with C1Inh deficiency	91385	Disease
100055	Acquired angioedema type 2	528663	Clinical subtype
100056	Acquired angioedema type 1	528663	Clinical subtype
100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema	91385	Disease
52759	Vasculitis	68362, 98023	Category
156140	Predominantly large-vessel vasculitis	52759	Clinical group
26137	Juvenile temporal arteritis	156140	Disease
228116	Hughes-Stovin syndrome	156140	Disease
156143	Predominantly medium-vessel vasculitis	52759	Clinical group
2331	Kawasaki disease	156143, 280369	Disease
156146	Predominantly small-vessel vasculitis	52759	Clinical group
156149	Immune complex mediated vasculitis	156146	Category
889	Cutaneous small vessel vasculitis	156149	Disease
251328	Unclassified vasculitis	280369, 52759	Disease
445197	Secondary vasculitis	280369, 52759	Category
251325	Drug-induced vasculitis	445197	Disease
182222	Rare systemic disease	98023	Category
90051	Sepsis in premature infants	182222	Particular clinical situation in a disease or syndrome
3099	Rheumatic fever	182222	Disease
69	Amyloidosis	182222	Category
439224	ALECT2 amyloidosis	69	Disease
439246	ABeta2M amyloidosis	69	Clinical group
85446	Wild type ABeta2M amyloidosis	439246	Disease
3018	Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome	182222	Malformation syndrome
2582	Myalgia-eosinophilia syndrome associated with tryptophan	182222, 556508	Malformation syndrome
3096	Reye syndrome	182222	Disease
764	Pyomyositis	163582, 182222	Disease
482	Kimura disease	182222	Disease
188	Systemic capillary leak syndrome	182222	Disease
50918	Kikuchi-Fujimoto disease	182222	Disease
182228	Systemic autoimmune disease	182222	Category
90002	Undifferentiated connective tissue syndrome	182228	Disease
251312	Overlapping connective tissue disease	182228, 280373	Clinical group
284264	IgG4-related disease	182228	Clinical group
449566	Eosinophilic angiocentric fibrosis	284264, 98036	Disease
596448	IgG4-related systemic disease	284264	Disease
449432	IgG4-related submandibular gland disease	596448, 98036	Clinical subtype
398091	Secondary neonatal autoimmune disease	182228, 280373	Category
398097	Neonatal antiphospholipid syndrome	398091	Disease
398109	Neonatal autoimmune hemolytic anemia	398091	Disease
398117	Neonatal dermatomyositis	398091	Disease
398124	Neonatal lupus erythematosus	398091	Disease
398127	Neonatal scleroderma	398091	Disease
251332	Unexplained long-lasting fever/inflammatory syndrome	182222, 280373	Disease
280062	Calciphylaxis	182222, 496924	Disease
280068	Visceral calciphylaxis	280062	Clinical subtype
284227	TEMPI syndrome	182222	Clinical syndrome
279947	Postorgasmic illness syndrome	182222	Clinical syndrome
542323	CAR T cell therapy-associated cytokine release syndrome	182222	Particular clinical situation in a disease or syndrome
598363	Multisystem inflammatory syndrome in children and adults	182222, 280373	Disease
182231	Rare rheumatologic disease	98023	Category
29207	Reactive arthritis	182231, 486955	Disease
93665	Autoinflammatory syndrome	182231	Category
101995	Periodic fever syndrome	93665	Category
102237	Unexplained periodic fever syndrome	101995	Category
37748	Schnitzler syndrome	102237	Malformation syndrome
42642	PFAPA syndrome	102237, 324960	Disease
324927	Pyogenic autoinflammatory syndrome	93665	Category
54251	Aseptic abscess syndrome	324927	Disease
324930	Granulomatous autoinflammatory syndrome	93665	Category
324936	Unclassified autoinflammatory syndrome	93665	Category
251307	Idiopathic recurrent pericarditis	324936, 324953	Disease
324972	MAGIC syndrome	324936	Disease
399158	Osteonecrosis	182231, 93419	Category
566943	Mueller-Weiss syndrome	399158	Disease
399329	Epiphysiolysis of the hip	399158	Disease
444316	Idiopathic phalangeal acro-osteolysis	399158	Disease
2764	Osteochondritis dissecans	399158	Disease
399164	Avascular necrosis	399158	Category
399169	Secondary avascular necrosis	399164	Category
399175	Traumatic avascular necrosis	399169	Disease
399180	Secondary non-traumatic avascular necrosis	399169	Disease
399293	Osteonecrosis of the jaw	399169	Disease
399302	Primary avascular necrosis	399164	Clinical group
399307	Idiopathic avascular necrosis	399302	Disease
399319	Osteochondrosis	399158	Category
564003	Osteochondrosis of the metatarsal bone	399319	Disease
97332	Kienbock disease	399319	Disease
97335	Osgood-Schlatter disease	399319	Disease
97336	Panner disease	399319	Disease
97337	Sinding-Larsen-Johansson disease	399319	Disease
57196	Medial condensing osteitis of the clavicle	399319	Disease
563991	Osteochondrosis of the tarsal bone	399319	Disease
521127	Osteoradionecrosis of the mandible	399158, 521132	Disease
477650	Fibroblastic rheumatism	182231, 486955	Disease
178311	Isolated sternocostoclavicular hyperostosis	182231	Disease
662255	Grisel syndrome	182231	Clinical syndrome
98026	Rare odontologic disease		Category
98027	Rare disease with odontological manifestation	98026	Category
164001	Rare odontal or periodontal disorder	98026	Category
67039	Segmental odontomaxillary dysplasia	164001	Disease
83450	Regional odontodysplasia	164001	Disease
83451	Florid cemento-osseous dysplasia	164001	Disease
314425	Rare odontogenic tumor	290849, 98026	Category
314419	Ameloblastoma	314425	Disease
314422	Ameloblastic carcinoma	314425	Disease
447777	Keratocystic odontogenic tumor	314425	Disease
689430	Adenoid ameloblastoma	314425	Disease
98028	Rare circulatory system disease		Category
68362	Rare vascular disease	98028	Category
496924	Non-inflammatory vasculopathy	68362	Category
675404	May-Thurner syndrome	496924	Disease
641829	Neonatal compartment syndrome	496924	Clinical syndrome
645350	Segmental arterial mediolysis	496924	Disease
698012	Fibromuscular dysplasia	496924	Disease
698036	Fibromuscular dysplasia of the cervical and intracranial arteries	698012	Clinical subtype
698043	Fibromuscular dysplasia of the renal arteries	698012	Clinical subtype
698059	Fibromuscular dysplasia of the coronary arteries	698012	Clinical subtype
698063	Fibromuscular dysplasia of the visceral arteries	698012	Clinical subtype
698069	Fibromuscular dysplasia of the arteries of the extremities	698012	Clinical subtype
90064	Acute peripheral arterial occlusion	496924	Particular clinical situation in a disease or syndrome
1682	Arterial dissection-lentiginosis syndrome	496924	Malformation syndrome
93419	Rare bone disease		Category
68411	Rare bone tumor	93419, 98057	Category
480553	Aneurysmal bone cyst	68411	Disease
55881	Adamantinoma	68411	Disease
58040	Osteoblastoma	68411	Disease
83468	Solitary bone cyst	68411	Disease
223727	Bone sarcoma	68411	Clinical group
2023	Undifferentiated pleomorphic sarcoma	223727, 3394	Disease
2030	Fibrosarcoma	223727, 3394	Disease
668	Osteosarcoma	223727, 506219	Disease
319	Skeletal Ewing sarcoma	223727	Disease
55880	Chondrosarcoma	223727	Disease
363976	Giant cell tumor of bone	223727	Disease
370348	Peripheral primitive neuroectodermal tumor	223727, 3394	Disease
404507	Chondromyxoid fibroma	68411	Disease
696078	Central giant cell granuloma	290849, 68411	Disease
168621	Dysplasia of head of femur, Meyer type	93419	Disease
645822	Primary bone and joint tuberculosis	3389, 93419	Disease
647823	Idiopathic pregnancy-associated osteoporosis	163637, 93419	Disease
98036	Rare otorhinolaryngologic disease		Category
68361	Rare deafness	98036	Category
90059	Sudden sensorineural hearing loss	68361	Particular clinical situation in a disease or syndrome
71276	Silent sinus syndrome	98036	Disease
98061	Rare otorhinolaryngologic tumor	290849, 98036	Category
667678	Intraoral basal cell carcinoma	98061	Disease
141077	Epignathus	883, 98061	Clinical subtype
141107	Nasopharyngeal teratoma	883, 98061	Clinical subtype
141115	Nasal ganglioglioma	98061	Disease
67037	Squamous cell carcinoma of head and neck	98061	Category
494547	Squamous cell carcinoma of the hypopharynx	67037	Disease
494550	Squamous cell carcinoma of the larynx	67037	Disease
500464	Squamous cell carcinoma of the nasal cavity and paranasal sinuses	67037	Disease
500478	Squamous cell carcinoma of the oropharynx	67037	Disease
502369	Squamous cell carcinoma of oral cavity and lip	67037	Category
502363	Squamous cell carcinoma of the oral cavity	502369	Disease
502366	Squamous cell carcinoma of the lip	502369	Disease
289596	Juvenile nasopharyngeal angiofibroma	98061	Disease
171684	Idiopathic bilateral vestibulopathy	98036	Disease
210272	Mal de débarquement	98036	Clinical syndrome
420402	Semicircular canal dehiscence syndrome	98036	Clinical syndrome
652681	Idiopathic subglottic stenosis	98036	Disease
98047	Rare infertility		Category
98048	Rare male infertility	98047	Category
98343	Male infertility due to obstructive azoospermia	98048	Category
399824	Rare disorder with obstructive azoospermia	98343	Category
645874	Primary genito-urinary tuberculosis	3389, 399824	Disease
399572	Rare male infertility due to hypothalamic-pituitary-gonadal axis disorder	98048	Category
399584	Rare male infertility due to adrenal disorder	399572	Category
98049	Rare female infertility	98047	Category
399831	Rare female infertility due to hypothalamic-pituitary-gonadal axis disorder	98049	Category
399849	Rare female infertility due to an adrenal disorder	399831	Category
399853	Rare female infertility due to an anomaly of ovarian function	399831	Category
399882	Rare female infertility due to an implantation defect	98049	Category
250908	Rare neoplastic disease		Category
98057	Rare tumor	250908	Category
3399	Germ cell tumor	506219, 98057	Category
363579	Extragonadal germ cell tumor	3399	Category
99913	Extragonadal non-dysgerminomatous germ cell tumor	363579	Category
876	Yolk sac tumor	99913	Disease
883	Extragonadal teratoma	99913	Disease
494421	Sacrococcygeal teratoma	883	Clinical subtype
99926	Gestational choriocarcinoma	59305, 99913	Disease
180226	Embryonal carcinoma	99913	Disease
289362	Non-central nervous system-localized embryonal carcinoma	180226	Clinical subtype
180229	Polyembryoma	99913	Disease
180234	Mixed germ cell tumor	99913	Disease
314613	Growing teratoma syndrome	99913	Particular clinical situation in a disease or syndrome
182127	Extragonadal germinoma	363579	Disease
363582	Gonadal germ cell tumor	3399	Category
35807	Malignant germ cell tumor of ovary	363582, 398940	Category
99912	Ovarian dysgerminoma	35807	Disease
206538	Malignant non-dysgerminomatous germ cell tumor of ovary	35807	Disease
289356	Primary non-gestational choriocarcinoma of ovary	35807	Disease
71209	Rare soft tissue tumor	98057	Category
289685	Myopericytoma	289656, 71209	Disease
66627	Tenosynovial giant cell tumor	71209	Disease
3394	Soft tissue sarcoma	71209	Clinical group
2126	Solitary fibrous tumor	3394	Disease
3273	Synovial sarcoma	3394	Disease
64720	Leiomyosarcoma	289656, 3394	Disease
69077	Rhabdoid tumor	3394	Disease
69078	Liposarcoma	3394	Disease
99967	Myxoid/round cell liposarcoma	69078	Histopathological subtype
99969	Pleomorphic liposarcoma	69078	Histopathological subtype
99970	Dedifferentiated liposarcoma	69078	Histopathological subtype
99971	Well-differentiated liposarcoma	69078	Histopathological subtype
163699	Alveolar soft tissue sarcoma	3394	Disease
209916	Extraskeletal myxoid chondrosarcoma	3394	Disease
293202	Epithelioid sarcoma	3394	Disease
370334	Extraskeletal Ewing sarcoma	3394, 506219	Disease
86902	Follicular dendritic cell sarcoma	289656, 3394	Disease
873	Desmoid tumor	71209	Disease
97338	Melanoma of soft tissue	71209	Disease
157826	Congenital epulis	71209	Disease
178342	Inflammatory myofibroblastic tumor	71209	Disease
247762	Lipoblastoma	71209	Disease
391651	Glomus tumor	71209	Disease
595133	Perivascular epithelioid cell neoplasm	71209	Disease
98059	Rare digestive tumor	98057	Category
98063	Rare gynecological tumor	96344, 98057	Category
180312	Rare vulvovaginal tumor	98063	Category
137583	Vulvar intraepithelial neoplasia	180312	Disease
180247	Vaginal carcinoma	180312	Disease
206489	Malignant germ cell tumor of the vagina	180312	Disease
206492	Vulvovaginal rhabdomyosarcoma	180312	Disease
494418	Vulvar carcinoma	180312	Disease
494448	Vulvar squamous cell carcinoma	494418	Histopathological subtype
494451	Vulvar basal cell carcinoma	494418	Histopathological subtype
494454	Vulvar adenocarcinoma	494418	Histopathological subtype
213564	Rare uterine cancer	98063	Category
213569	Rare cancer of corpus uteri	213564	Category
213589	Malignant mixed epithelial and mesenchymal tumor of corpus uteri	213569	Clinical group
213600	Adenosarcoma of the corpus uteri	213589	Disease
213605	Carcinofibroma of the corpus uteri	213589	Disease
213610	Carcinosarcoma of the corpus uteri	213589	Disease
213620	Sarcoma of the corpus uteri	213569	Clinical group
213615	Rhabdomyosarcoma of the corpus uteri	213620	Disease
213625	Leiomyosarcoma of the corpus uteri	213620	Disease
213630	Primitive neuroectodermal tumor of the corpus uteri	213620	Disease
213711	Endometrial stromal sarcoma	213569	Disease
213716	Squamous cell carcinoma of the corpus uteri	213569	Disease
213721	Undifferentiated carcinoma of the corpus uteri	213569	Disease
213726	Serous carcinoma of the corpus uteri	213569	Disease
213736	Low-grade neuroendocrine tumor of the corpus uteri	213569	Disease
213746	Transitional cell carcinoma of the corpus uteri	213569	Disease
213751	Malignant germ cell tumor of the corpus uteri	213569	Disease
213761	Rare cancer of cervix uteri	213564	Category
213767	Squamous cell carcinoma of the cervix uteri	213761	Disease
213772	Adenocarcinoma of the cervix uteri	213761	Disease
213782	Malignant mixed epithelial and mesenchymal tumor of cervix uteri	213761	Clinical group
213787	Carcinosarcoma of the cervix uteri	213782	Disease
213792	Adenosarcoma of the cervix uteri	213782	Disease
213797	Sarcoma of cervix uteri	213761	Clinical group
213802	Rhabdomyosarcoma of the cervix uteri	213797	Disease
213807	Leiomyosarcoma of the cervix uteri	213797	Disease
213812	Primitive neuroectodermal tumor of the cervix uteri	213797	Disease
213823	Adenoid cystic carcinoma of the cervix uteri	213761	Disease
213828	Adenoid basal carcinoma of the cervix uteri	213761	Disease
213833	Glassy cell carcinoma of the cervix uteri	213761	Disease
213837	Malignant germ cell tumor of the cervix uteri	213761	Disease
254685	Gestational trophoblastic disease	98063	Category
59305	Gestational trophoblastic neoplasm	254685	Clinical group
99925	Invasive mole	59305	Disease
99928	Placental site trophoblastic tumor	59305	Disease
254698	Epithelioid trophoblastic tumor	59305	Disease
99927	Hydatidiform mole	254685	Disease
254688	Complete hydatidiform mole	99927	Clinical subtype
254693	Partial hydatidiform mole	99927	Clinical subtype
180220	Rare uterine adnexal tumor	98063	Category
97293	Rare benign ovarian tumor	180220	Category
569248	Microcystic stromal tumor	97293	Disease
206470	Cystadenoma of childhood	97293	Disease
563676	Seromucinous cystadenoma of childhood	206470	Histopathological subtype
563671	Mucinous cystadenoma of childhood	206470	Histopathological subtype
563666	Serous cystadenoma of childhood	206470	Histopathological subtype
314451	Meigs syndrome	97293	Clinical syndrome
314459	Pseudo-Meigs syndrome	97293	Clinical syndrome
314466	Atypical Meigs syndrome	97293	Clinical syndrome
314473	Ovarian fibroma	97293	Disease
314478	Ovarian fibrothecoma	97293	Disease
180237	Benign tumor of fallopian tubes	180220	Disease
180242	Malignant tumor of fallopian tubes	180220	Disease
213500	Rare ovarian cancer	180220	Category
398934	Malignant epithelial tumor of ovary	213500	Category
213504	Adenocarcinoma of ovary	398934	Disease
213512	Malignant mixed Müllerian tumor of the ovary	398934	Disease
398961	Mucinous adenocarcinoma of ovary	398934	Disease
398971	Clear cell adenocarcinoma of the ovary	398934	Disease
454723	Endometrioid carcinoma of ovary	398934	Disease
398940	Malignant non-epithelial tumor of ovary	213500	Category
370396	Small cell carcinoma of the ovary	398940	Disease
35808	Malignant sex cord stromal tumor of ovary	398940	Category
99914	Gynandroblastoma	35808	Disease
99915	Malignant granulosa cell tumor of the ovary	35808	Disease
99916	Malignant Sertoli-Leydig cell tumor of the ovary	35808	Disease
99917	Theca steroid-producing cell malignant tumor of ovary, not further specified	35808	Disease
398987	Malignant teratoma of ovary	398940	Disease
696830	Female adnexal tumor of probable Wolffian origin	180220	Disease
180250	Rare breast tumor	98063	Category
180253	Rare benign breast tumor	180250	Category
180261	Phyllodes tumor of the breast	180253, 180257	Disease
180267	Giant adenofibroma of the breast	180253	Disease
180257	Rare malignant breast tumor	180250	Category
180275	Paget disease of the nipple	180257	Disease
213528	Rare adenocarcinoma of the breast	180257	Disease
213531	Metaplastic carcinoma of the breast	180257	Disease
213557	Salivary gland type cancer of the breast	180257	Disease
694963	Inflammatory breast cancer	180257	Disease
100100	Thymic tumor	98057	Category
3398	Thymic epithelial neoplasm	100100	Category
99867	Thymoma	3398	Disease
263310	Thymoma type A	99867	Histopathological subtype
263317	Thymoma type B	99867	Histopathological subtype
263324	Thymoma type AB	99867	Histopathological subtype
99868	Thymic carcinoma	3398	Disease
182130	Tumor of endocrine glands	98057	Category
304055	Pituitary tumor	182130	Category
300385	Pituitary carcinoma	304055	Disease
289635	Rare virus associated tumor	98057	Category
102024	Human herpesvirus 8-related disorder	289635	Category
289638	Epstein-Barr Virus-related tumor	289635	Category
289644	Epstein-Barr virus-associated malignant lymphoproliferative disorder	289638	Category
289651	Epstein-Barr Virus-associated carcinoma	289638	Category
289682	Lymphoepithelial-like carcinoma	289651	Disease
289656	Epstein-Barr Virus-associated mesenchymal tumor	289638	Category
443291	HIV-associated cancer	289635	Particular clinical situation in a disease or syndrome
290849	Rare head and neck tumor	98057	Category
443167	NUT midline carcinoma	98057	Disease
626609	Rare andrological tumor	98057	Category
631251	Cancer of unknown primary site	98057	Disease
68416	Rare infectious disease		Category
163582	Rare bacterial infectious disease	68416	Category
1304	Brucellosis	163582	Disease
173	Cholera	163582	Disease
795	Rare form of salmonellosis	163582	Category
99745	Typhoid	795	Disease
324648	Invasive non-typhoidal salmonellosis	795	Disease
443227	Paratyphoid fever	795	Disease
509	Leptospirosis	163582	Disease
810	Shigellosis	163582	Disease
533	Listeriosis	163582	Disease
1489	Whooping cough	163582	Disease
1679	Diphtheria	163582	Disease
3389	Tuberculosis	163582	Clinical group
645807	Primary tuberculous lymphadenitis	3389	Disease
2700	Noma	163582	Disease
2583	Mycetoma	163582, 163591	Disease
3392	Tularemia	163582	Disease
781	Q fever	163582	Disease
31202	Melioidosis	163582	Disease
31204	Nocardiosis	163582	Disease
31205	Rat-bite fever	163582	Disease
99903	Spirillary rat-bite fever	31205	Etiological subtype
99905	Streptobacillary rat-bite fever	31205	Etiological subtype
36234	Bacterial toxic-shock syndrome	163582	Disease
99918	Streptococcal toxic-shock syndrome	36234	Etiological subtype
99919	Staphylococcal toxic-shock syndrome	300579, 36234	Etiological subtype
50839	Cat-scratch disease	163582	Disease
64692	Bartonella bacilliformis infection	163582	Disease
659759	Verruga peruana	64692	Clinical subtype
659756	Oroya fever	64692	Clinical subtype
64694	Trench fever	163582	Disease
83317	Scrub typhus	163582	Disease
91547	Relapsing fever	163582	Disease
102021	Rickettsial disease	163582	Category
1902	Ehrlichiosis	102021	Disease
102022	Spotted fever rickettsiosis	102021	Category
83311	Rocky Mountain spotted fever	102022	Disease
83312	Rickettsialpox	102022	Disease
83313	Boutonneuse fever	102022	Disease
83316	Pseudotyphus of California	102022	Disease
101334	African tick typhus	102022	Disease
102023	Typhus-group rickettsiosis	102021	Category
83314	Epidemic typhus	102023	Disease
99990	Brill-Zinsser disease	83314	Clinical subtype
99991	Relapsing epidemic typhus	83314	Clinical subtype
83315	Murine typhus	102023	Disease
137839	Lemierre syndrome	163582	Disease
247257	Inhalational anthrax	163582	Disease
300579	Staphylococcal toxemia	163582	Category
36235	Staphylococcal scarlet fever	300579	Disease
36236	Staphylococcal scalded skin syndrome	300579	Disease
440368	Necrotizing soft tissue infection	163582	Disease
699678	Necrotizing cellulitis	440368	Clinical subtype
699697	Necrotizing fasciitis	440368	Clinical subtype
699702	Necrotizing myositis	440368	Clinical subtype
90078	Invasive infections due to vancomycin-resistant enterococci	163582	Particular clinical situation in a disease or syndrome
457095	Actinomycosis	163582	Disease
600832	Legionella infection	163582	Clinical group
99748	Pontiac fever	600832	Disease
549	Legionnaires disease	600832	Disease
659712	Rare yersiniosis	163582	Category
707	Plague	659712	Disease
659707	Yersinia pseudotuberculosis infection	659712	Disease
660053	Psittacosis	163582	Disease
659908	Glanders	163582	Disease
688995	Scarlet fever	163582	Disease
163585	Rare viral disease	68416	Category
341	Viral hemorrhagic fever	163585	Category
340	Hemorrhagic fever-renal syndrome	341	Disease
99824	Lassa fever	341	Disease
99826	Marburg hemorrhagic fever	341	Disease
99827	Crimean-Congo hemorrhagic fever	341	Disease
319213	Lujo hemorrhagic fever	341	Disease
319218	Ebola hemorrhagic fever	341	Disease
319223	Argentine hemorrhagic fever	341	Disease
319229	Bolivian hemorrhagic fever	341	Disease
319234	Venezuelan hemorrhagic fever	341	Disease
319239	Brazilian hemorrhagic fever	341	Disease
319244	Chapare hemorrhagic fever	341	Disease
319247	Hantavirus pulmonary syndrome	341	Disease
319251	Rift valley fever	341	Disease
319254	Kyasanur forest disease	341	Disease
319266	Omsk hemorrhagic fever	341	Disease
99828	Dengue fever	341	Disease
99829	Yellow fever	341	Disease
2566	Chronic Epstein-Barr virus infection syndrome	163585	Disease
35062	Severe disseminated cytomegalovirus infection in immunocompetent patients	163585	Disease
438279	Human infection by orthopoxvirus	163585	Disease
91127	Adenovirus infection in immunocompromised patients	163585	Particular clinical situation in a disease or syndrome
137698	Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk	163585	Particular clinical situation in a disease or syndrome
448237	Zika virus disease	163585	Disease
163588	Rare parasitic disease	68416	Category
1223	Balantidiasis	163588	Disease
697096	Cryptosporidiosis	163588	Disease
673	Malaria	163588	Disease
1247	Schistosomiasis	163588	Disease
284	Alveolar echinococcosis	163588	Disease
3386	American trypanosomiasis	163588	Disease
507	Leishmaniasis	163588	Disease
1070	Anisakiasis	163588	Disease
2552	Microsporidiosis	163588	Disease
1560	Cysticercosis	163588	Disease
3385	African trypanosomiasis	163588	Disease
67	Amoebiasis due to Entamoeba histolytica	163588	Disease
1685	Distomatosis	163588	Clinical group
658909	Fasciolopsiasis	1685	Disease
658913	Paragonimiasis	1685	Disease
658917	Clonorchiasis	1685	Disease
2034	Filariasis	163588	Category
231	Dracunculiasis	2034	Disease
2035	Lymphatic filariasis	2034	Disease
2404	Loiasis	2034	Disease
2459	Mansonelliasis	2034	Disease
166291	Dirofilariasis	2034	Disease
3343	Toxocariasis	163588	Disease
68	Amoebiasis due to free-living amoebae	163588	Disease
74	Angiostrongyliasis	163588	Disease
76	Strongyloidiasis	163588	Disease
78	Ankylostomiasis	163588	Disease
108	Babesiosis	163588	Disease
128	Diphyllobothriasis	163588	Disease
210	Cyclosporiasis	163588	Disease
283	Demodicidosis	163588	Disease
400	Cystic echinococcosis	163588	Disease
401	Hymenolepiasis	163588	Disease
472	Isosporiasis	163588	Disease
879	Tungiasis	163588	Disease
54368	Sarcocystosis	163588	Disease
75110	Myiasis	163588	Category
99983	Cutaneous myiasis	75110	Category
504	Creeping myiasis	99983	Disease
591	Furuncular myiasis	99983	Disease
563690	Furuncular myiasis due to Cordylobia rodhaini	591	Clinical subtype
563687	Furuncular myiasis due to Cordylobia anthropophaga	591	Clinical subtype
563684	Furuncular myiasis due to Dermatobia hominis	591	Clinical subtype
165955	Wound myiasis	99983	Disease
423717	Cutaneous larva migrans	163588	Disease
163591	Rare mycosis	68416	Category
1163	Aspergillosis	163591	Disease
182	Chromomycosis	163591	Disease
390	Histoplasmosis	163591	Disease
723	Pneumocystosis	163591	Disease
826	Sporotrichosis	163591	Disease
73260	Paracoccidioidomycosis	163591	Disease
73263	Zygomycosis	163591	Disease
228119	Fusariosis	163591	Disease
397587	Deep dermatophytosis	163591	Disease
1546	Cryptococcosis	163591	Disease
228123	Coccidioidomycosis	163591	Disease
449280	Scedosporiosis	163591	Disease
697053	Talaromycosis	163591	Disease
636945	Invasive candidiasis	163591	Disease
633124	Invasive scopulariopsis infection	163591, 565779	Disease
697091	Emergomycosis	163591	Disease
108999	Rare disorder due to toxic effects		Category
521132	Radiation-induced disorder	108999	Category
454831	Acute radiation syndrome	521132	Particular clinical situation in a disease or syndrome
306640	Rare intoxication due to medical products	108999	Category
565782	Methotrexate toxicity	306640	Disease
529831	Letrozole toxicity	306640	Particular clinical situation in a disease or syndrome
31824	Colchicine poisoning	306640	Particular clinical situation in a disease or syndrome
31828	Digitalis poisoning	306640	Particular clinical situation in a disease or syndrome
43117	Acute tricyclic antidepressant poisoning	306640	Particular clinical situation in a disease or syndrome
43119	Acute poisoning by drugs with membrane-stabilizing effect	306640	Particular clinical situation in a disease or syndrome
217064	5-fluorouracil poisoning	306640	Particular clinical situation in a disease or syndrome
293807	Ketamine-induced biliary dilatation	306640	Disease
466670	Cyanide poisoning	306640	Particular clinical situation in a disease or syndrome
464458	Paracetamol poisoning	306640	Particular clinical situation in a disease or syndrome
556508	Rare disorder due to poisoning	108999	Category
31825	Methanol poisoning	556508	Disease
31826	Ethylene glycol poisoning	556508	Disease
31827	Paraquat poisoning	556508	Disease
35889	Acute opioid intoxication	556508	Disease
60014	Argyria	556508	Disease
73423	Acute ackee fruit intoxication	556508	Disease
90068	Cocaine intoxication	556508	Disease
90069	Systemic monochloroacetate poisoning	556508	Disease
227972	Toxic oil syndrome	556508	Disease
247165	Infantile mercury poisoning	556508	Disease
330015	Lead poisoning	556508	Disease
330021	Mercury poisoning	556508	Disease
449285	Snakebite envenomation	556508	Disease
466677	Scorpion envenomation	556508	Disease
96344	Rare gynecologic or obstetric disease		Category
163637	Rare disorder related with pregnancy, childbirth and puerperium	96344	Category
617307	Rare disorder related to monochorionic twin pregnancy	163637	Category
617310	Rare disorder due to unbalanced inter-twin blood transfusion	617307	Category
617297	Twin-reversed arterial perfusion sequence	617310	Disease
617313	Rare disorder due to inadequate sharing of the placenta	617307	Category
617301	Selective intrauterine growth restriction	617313	Disease
617304	Amniotic fluid embolism	163637	Disease
662721	Placenta accreta spectrum disorder	163637	Disease
662786	Vasa previa	163637	Disease
615970	Chronic intervillositis of unknown etiology	163637	Disease
275555	Preeclampsia	163637	Disease
289385	Malignancy diagnosed during pregnancy	163637	Particular clinical situation in a disease or syndrome
439167	Placental insufficiency	163637	Clinical syndrome
180062	Uterovaginal malformation	96344	Category
180148	Syndromic uterovaginal malformation	180062	Category
180163	Rare breast malformation	96344	Category
180170	Excess breast volume or number	180163	Category
2456	Familial supernumerary nipples	180170	Morphological anomaly
180176	Familial juvenile hypertrophy of the breast	180170	Morphological anomaly
180182	Supernumerary breasts	180170	Morphological anomaly
180173	Deficient breast volume or number	180163	Category
180193	Syndromic breast hypoplasia/aplasia	180173	Category
180199	Rare non-malformative gynecologic or obstetric disease	96344	Category
137820	Extrapelvic endometriosis	180199	Disease
180202	Rare non-malformative breast disease	180199	Category
64722	Granulomatous mastitis	180202	Disease
653698	Lymphocytic mastitis	180202	Disease
180205	Rare non-malformative uterovaginal or vulvovaginal disease	180199	Category
137686	Asherman syndrome	180205	Disease
180303	Rare non-malformative uterine adnexal disease	180199	Category
180208	Anomaly of puberty or/and menstrual cycle	96344	Category
435561	Rare precocious puberty in female	180208	Category
650187	Rare peripheral precocious puberty in female	435561	Clinical group
498251	Menstrual cycle-dependent periodic fever	180208	Disease
325620	Difference of sex development of gynecological interest	96344	Category
68329	Rare maxillo-facial surgical disease		Category
210581	Temporomandibular joint anomaly	68329	Category
210576	Congenital temporomandibular joint ankylosis	210581	Disease
477781	Primary condylar hyperplasia	210581	Disease
357154	Oral submucous fibrosis	68329	Disease
98050	Rare allergic disease		Category
98052	Rare allergic respiratory disease	98050	Category
280342	Rare systemic or rheumatological disease of childhood		Category
280369	Rare pediatric vasculitis	280342	Category
280373	Rare pediatric systemic disease	280342	Category
486955	Rare pediatric rheumatologic disease	280342	Category
319719	Autoinflammatory syndrome of childhood	486955	Category
324939	Periodic fever syndrome of childhood	319719	Category
324960	Unexplained periodic fever syndrome of childhood	324939	Category
324942	Pyogenic autoinflammatory syndrome of childhood	319719	Category
324950	Granulomatous autoinflammatory syndrome of childhood	319719	Category
324953	Unclassified autoinflammatory syndrome of childhood	319719	Category
481671	Type 1 interferonopathy of childhood	319719	Category
565779	Rare disorder potentially indicated for transplant or complication after transplantation		Category
90053	Complications after hematopoietic stem cell transplantation	565779	Particular clinical situation in a disease or syndrome
306644	Complication after organ transplantation	565779	Particular clinical situation in a disease or syndrome
506207	Rare disorder potentially indicated for transplant	565779	Category
506225	Rare disorder potentially indicated for heart transplant	506207	Category
506210	Rare disorder potentially indicated for liver transplant	506207	Category
506213	Rare disorder potentially indicated for kidney transplant	506207	Category
506216	Rare disorder potentially indicated for bowel transplant	506207	Category
506219	Rare disorder potentially indicated for hematopoietic stem cell transplant	506207	Category
506222	Rare disorder potentially indicated for lung transplant	506207	Category
618137	Functional head of classification for rare disorder without a determined diagnosis after full investigation		Category
616874	Rare disorder without a determined diagnosis after full investigation	618137	Disease