Value Set eHDSIRareDisease 2023‑01‑17 16:35:00

This terminology is a snapshot as of 2025‑05‑19 12:35:31. Terminologies may evolve over time. If you need recent (dynamic) versions of this terminology, please retrieve it from the source.

1.3.6.1.4.1.12559.11.10.1.3.1.42.63

Effective Date

2023‑01‑17 16:35:00

Other versions this id:

eHDSIRareDisease202502 - as of 2025‑02‑18 09:52:00
eHDSIRareDisease202401 - as of 2024‑01‑25 16:38:00
eHDSIRareDisease202206 - as of 2022‑06‑23 15:36:00

Status

Deprecated

Version Label

202301

Name

eHDSIRareDisease

Display Name

eHDSIRareDisease

Description

The Value Set is used to describe the problems and medication reasons.

Source Code System

1.3.6.1.4.1.12559.11.10.1.3.1.44.5 - ORPHAnet - FHIR: urn:oid:1.3.6.1.4.1.12559.11.10.1.3.1.44.5

Level/ Type	Code	Display Name	Code System
0‑L	5	Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency	ORPHAnet
0‑L	6	3-methylcrotonyl-CoA carboxylase deficiency	ORPHAnet
0‑L	7	3C syndrome	ORPHAnet
0‑L	8	47,XYY syndrome	ORPHAnet
0‑L	9	Tetrasomy X	ORPHAnet
0‑L	10	48,XXYY syndrome	ORPHAnet
0‑L	11	Pentasomy X	ORPHAnet
0‑L	13	6-pyruvoyl-tetrahydropterin synthase deficiency	ORPHAnet
0‑L	14	Abetalipoproteinemia	ORPHAnet
0‑L	15	Achondroplasia	ORPHAnet
0‑L	16	Blue cone monochromatism	ORPHAnet
0‑L	17	Fatal infantile lactic acidosis with methylmalonic aciduria	ORPHAnet
0‑L	18	Distal renal tubular acidosis	ORPHAnet
0‑L	20	3-hydroxy-3-methylglutaric aciduria	ORPHAnet
0‑L	22	Succinic semialdehyde dehydrogenase deficiency	ORPHAnet
0‑L	23	Argininosuccinic aciduria	ORPHAnet
0‑L	24	Fumaric aciduria	ORPHAnet
0‑L	25	Glutaryl-CoA dehydrogenase deficiency	ORPHAnet
0‑L	26	Methylmalonic acidemia with homocystinuria	ORPHAnet
0‑L	27	Vitamin B12-unresponsive methylmalonic acidemia	ORPHAnet
0‑L	28	Vitamin B12-responsive methylmalonic acidemia	ORPHAnet
0‑L	29	Mevalonic aciduria	ORPHAnet
0‑L	30	Hereditary orotic aciduria	ORPHAnet
0‑L	31	Oxoglutaric aciduria	ORPHAnet
0‑L	32	Glutathione synthetase deficiency	ORPHAnet
0‑L	33	Isovaleric acidemia	ORPHAnet
0‑L	35	Propionic acidemia	ORPHAnet
0‑L	36	Acrocallosal syndrome	ORPHAnet
0‑L	37	Acrodermatitis enteropathica	ORPHAnet
0‑L	38	Acrokeratoelastoidosis of Costa	ORPHAnet
0‑L	39	Acromelanosis	ORPHAnet
0‑L	40	Acromesomelic dysplasia, Maroteaux type	ORPHAnet
0‑L	41	Dyschromatosis symmetrica hereditaria	ORPHAnet
0‑L	42	Medium chain acyl-CoA dehydrogenase deficiency	ORPHAnet
0‑L	43	X-linked adrenoleukodystrophy	ORPHAnet
0‑L	44	Neonatal adrenoleukodystrophy	ORPHAnet
0‑L	45	Adenosine monophosphate deaminase deficiency	ORPHAnet
0‑L	46	Adenylosuccinate lyase deficiency	ORPHAnet
0‑L	47	X-linked agammaglobulinemia	ORPHAnet
0‑L	48	Congenital bilateral absence of vas deferens	ORPHAnet
0‑L	49	Penile agenesis	ORPHAnet
0‑L	50	Aicardi syndrome	ORPHAnet
0‑L	51	Aicardi-Goutières syndrome	ORPHAnet
0‑L	52	Alagille syndrome	ORPHAnet
0‑L	53	Albers-Schönberg osteopetrosis	ORPHAnet
0‑L	54	X-linked recessive ocular albinism	ORPHAnet
0‑L	56	Alkaptonuria	ORPHAnet
0‑L	57	Glycogen storage disease due to aldolase A deficiency	ORPHAnet
0‑L	58	Alexander disease	ORPHAnet
0‑L	59	Allan-Herndon-Dudley syndrome	ORPHAnet
0‑L	60	Alpha-1-antitrypsin deficiency	ORPHAnet
0‑L	61	Alpha-mannosidosis	ORPHAnet
0‑L	62	Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3	ORPHAnet
0‑L	63	Alport syndrome	ORPHAnet
0‑L	64	Alström syndrome	ORPHAnet
0‑L	65	Leber congenital amaurosis	ORPHAnet
0‑L	67	Amoebiasis due to Entamoeba histolytica	ORPHAnet
0‑L	68	Amoebiasis due to free-living amoebae	ORPHAnet
0‑L	70	Proximal spinal muscular atrophy	ORPHAnet
0‑L	71	Chylomicron retention disease	ORPHAnet
0‑L	72	Angelman syndrome	ORPHAnet
0‑L	73	Gorham-Stout disease	ORPHAnet
0‑L	74	Angiostrongyliasis	ORPHAnet
0‑L	76	Strongyloidiasis	ORPHAnet
0‑L	78	Ankylostomiasis	ORPHAnet
0‑L	79	Congenital alpha2-antiplasmin deficiency	ORPHAnet
0‑L	80	Antiphospholipid syndrome	ORPHAnet
0‑L	81	Antisynthetase syndrome	ORPHAnet
0‑L	82	Hereditary thrombophilia due to congenital antithrombin deficiency	ORPHAnet
0‑L	83	Antley-Bixler syndrome	ORPHAnet
0‑L	84	Fanconi anemia	ORPHAnet
0‑L	86	Familial abdominal aortic aneurysm	ORPHAnet
0‑L	87	Apert syndrome	ORPHAnet
0‑L	88	Idiopathic aplastic anemia	ORPHAnet
0‑L	90	Argininemia	ORPHAnet
0‑L	91	Aromatase deficiency	ORPHAnet
0‑L	93	Aspartylglucosaminuria	ORPHAnet
0‑L	95	Friedreich ataxia	ORPHAnet
0‑L	96	Ataxia with vitamin E deficiency	ORPHAnet
0‑L	97	Familial paroxysmal ataxia	ORPHAnet
0‑L	98	Autosomal recessive spastic ataxia of Charlevoix-Saguenay	ORPHAnet
0‑L	100	Ataxia-telangiectasia	ORPHAnet
0‑L	101	Dentatorubral pallidoluysian atrophy	ORPHAnet
0‑L	102	Multiple system atrophy	ORPHAnet
0‑L	104	Leber hereditary optic neuropathy	ORPHAnet
0‑L	105	Atresia of urethra	ORPHAnet
0‑L	107	BOR syndrome	ORPHAnet
0‑L	108	Babesiosis	ORPHAnet
0‑L	109	Bannayan-Riley-Ruvalcaba syndrome	ORPHAnet
0‑L	110	Bardet-Biedl syndrome	ORPHAnet
0‑L	111	Barth syndrome	ORPHAnet
0‑L	112	Bartter syndrome	ORPHAnet
0‑L	113	Bazex-Dupré-Christol syndrome	ORPHAnet
0‑L	114	Auriculoosteodysplasia	ORPHAnet
0‑L	115	Congenital contractural arachnodactyly	ORPHAnet
0‑L	116	Beckwith-Wiedemann syndrome	ORPHAnet
0‑L	117	Behçet disease	ORPHAnet
0‑L	118	Beta-mannosidosis	ORPHAnet
0‑L	119	Beta-sarcoglycan-related limb-girdle muscular dystrophy R4	ORPHAnet
0‑L	122	Birt-Hogg-Dubé syndrome	ORPHAnet
0‑L	123	Björnstad syndrome	ORPHAnet
0‑L	124	Blackfan-Diamond anemia	ORPHAnet
0‑L	125	Bloom syndrome	ORPHAnet
0‑L	126	Blepharophimosis-ptosis-epicanthus inversus syndrome	ORPHAnet
0‑L	127	Borjeson-Forssman-Lehmann syndrome	ORPHAnet
0‑L	128	Diphyllobothriasis	ORPHAnet
0‑L	129	Pseudopelade of Brocq	ORPHAnet
0‑L	130	Brugada syndrome	ORPHAnet
0‑L	131	Budd-Chiari syndrome	ORPHAnet
0‑L	132	Butyrylcholinesterase deficiency	ORPHAnet
0‑L	133	Chronic beryllium disease	ORPHAnet
0‑L	134	Beta-ketothiolase deficiency	ORPHAnet
0‑L	135	CACH syndrome	ORPHAnet
0‑L	136	Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy	ORPHAnet
0‑L	138	CHARGE syndrome	ORPHAnet
0‑L	139	CHILD syndrome	ORPHAnet
0‑L	140	Campomelic dysplasia	ORPHAnet
0‑L	141	Canavan disease	ORPHAnet
0‑L	142	Anaplastic thyroid carcinoma	ORPHAnet
0‑L	143	Parathyroid carcinoma	ORPHAnet
0‑L	144	Lynch syndrome	ORPHAnet
0‑L	145	Hereditary breast and ovarian cancer syndrome	ORPHAnet
0‑L	146	Differentiated thyroid carcinoma	ORPHAnet
0‑L	147	Carbamoyl-phosphate synthetase 1 deficiency	ORPHAnet
0‑L	150	Nasopharyngeal carcinoma	ORPHAnet
0‑L	154	Familial isolated dilated cardiomyopathy	ORPHAnet
0‑L	156	Carnitine palmitoyl transferase 1A deficiency	ORPHAnet
0‑L	157	Carnitine palmitoyltransferase II deficiency	ORPHAnet
0‑L	158	Systemic primary carnitine deficiency	ORPHAnet
0‑L	159	Carnitine-acylcarnitine translocase deficiency	ORPHAnet
0‑L	160	Castleman disease	ORPHAnet
0‑L	162	Cataract-glaucoma syndrome	ORPHAnet
0‑L	163	Hereditary hyperferritinemia-cataract syndrome	ORPHAnet
0‑L	167	Chédiak-Higashi syndrome	ORPHAnet
0‑L	168	Loose anagen syndrome	ORPHAnet
0‑L	169	Ringed hair disease	ORPHAnet
0‑L	170	Woolly hair	ORPHAnet
0‑L	171	Primary sclerosing cholangitis	ORPHAnet
0‑L	172	Progressive familial intrahepatic cholestasis	ORPHAnet
0‑L	173	Cholera	ORPHAnet
0‑L	174	Metaphyseal chondrodysplasia, Schmid type	ORPHAnet
0‑L	175	Cartilage-hair hypoplasia	ORPHAnet
0‑L	177	Rhizomelic chondrodysplasia punctata	ORPHAnet
0‑L	178	Chordoma	ORPHAnet
0‑L	179	Birdshot chorioretinopathy	ORPHAnet
0‑L	180	Choroideremia	ORPHAnet
0‑L	181	X-linked hypohidrotic ectodermal dysplasia	ORPHAnet
0‑L	182	Chromomycosis	ORPHAnet
0‑L	183	Eosinophilic granulomatosis with polyangiitis	ORPHAnet
0‑L	184	Cherubism	ORPHAnet
0‑L	185	Scimitar syndrome	ORPHAnet
0‑L	186	Primary biliary cholangitis	ORPHAnet
0‑L	188	Systemic capillary leak syndrome	ORPHAnet
0‑L	189	Hidrotic ectodermal dysplasia	ORPHAnet
0‑L	190	Coats disease	ORPHAnet
0‑L	191	Cockayne syndrome	ORPHAnet
0‑L	192	Coffin-Lowry syndrome	ORPHAnet
0‑L	193	Cohen syndrome	ORPHAnet
0‑L	195	Cat-eye syndrome	ORPHAnet
0‑L	198	Occipital horn syndrome	ORPHAnet
0‑L	199	Cornelia de Lange syndrome	ORPHAnet
0‑L	200	Isolated corpus callosum agenesis	ORPHAnet
0‑L	201	Cowden syndrome	ORPHAnet
0‑L	202	Crandall syndrome	ORPHAnet
0‑L	204	Sporadic Creutzfeldt-Jakob disease	ORPHAnet
0‑L	205	Crigler-Najjar syndrome	ORPHAnet
0‑L	207	Crouzon syndrome	ORPHAnet
0‑L	210	Cyclosporosis	ORPHAnet
0‑L	211	Familial cylindromatosis	ORPHAnet
0‑L	212	Cystathioninuria	ORPHAnet
0‑L	213	Cystinosis	ORPHAnet
0‑L	214	Cystinuria	ORPHAnet
0‑L	215	Congenital stationary night blindness	ORPHAnet
0‑L	217	Isolated Dandy-Walker malformation	ORPHAnet
0‑L	218	Darier disease	ORPHAnet
0‑L	219	Delta-sarcoglycan-related limb-girdle muscular dystrophy R6	ORPHAnet
0‑L	220	Denys-Drash syndrome	ORPHAnet
0‑L	221	Dermatomyositis	ORPHAnet
0‑L	222	Erosive pustular dermatosis of the scalp	ORPHAnet
0‑L	223	Nephrogenic diabetes insipidus	ORPHAnet
0‑L	225	Maternally-inherited diabetes and deafness	ORPHAnet
0‑L	226	Dihydropteridine reductase deficiency	ORPHAnet
0‑L	227	Diphallia	ORPHAnet
0‑L	229	Familial aortic dissection	ORPHAnet
0‑L	230	Dopamine beta-hydroxylase deficiency	ORPHAnet
0‑L	231	Dracunculiasis	ORPHAnet
0‑L	232	Sickle cell anemia	ORPHAnet
0‑L	233	Duane retraction syndrome	ORPHAnet
0‑L	234	Dubin-Johnson syndrome	ORPHAnet
0‑L	235	Dubowitz syndrome	ORPHAnet
0‑L	236	Trisomy 9p	ORPHAnet
0‑L	237	Duplication of urethra	ORPHAnet
0‑L	238	Digestive duplication	ORPHAnet
0‑L	239	Dyggve-Melchior-Clausen disease	ORPHAnet
0‑L	240	Léri-Weill dyschondrosteosis	ORPHAnet
0‑L	241	Dyschromatosis universalis hereditaria	ORPHAnet
0‑L	242	46,XY complete gonadal dysgenesis	ORPHAnet
0‑L	243	46,XX gonadal dysgenesis	ORPHAnet
0‑L	244	Primary ciliary dyskinesia	ORPHAnet
0‑L	245	Nager syndrome	ORPHAnet
0‑L	246	Postaxial acrofacial dysostosis	ORPHAnet
0‑L	248	Autosomal recessive hypohidrotic ectodermal dysplasia	ORPHAnet
0‑L	249	Fibrous dysplasia of bone	ORPHAnet
0‑L	256	Early-onset generalized limb-onset dystonia	ORPHAnet
0‑L	257	Epidermolysis bullosa simplex with muscular dystrophy	ORPHAnet
0‑L	258	Laminin subunit alpha 2-related congenital muscular dystrophy	ORPHAnet
0‑L	261	Emery-Dreifuss muscular dystrophy	ORPHAnet
0‑L	266	Autosomal dominant limb-girdle muscular dystrophy type 1A	ORPHAnet
0‑L	267	Calpain-3-related limb-girdle muscular dystrophy R1	ORPHAnet
0‑L	268	Dysferlin-related limb-girdle muscular dystrophy R2	ORPHAnet
0‑L	269	Facioscapulohumeral dystrophy	ORPHAnet
0‑L	270	Oculopharyngeal muscular dystrophy	ORPHAnet
0‑L	272	Congenital muscular dystrophy, Fukuyama type	ORPHAnet
0‑L	273	Steinert myotonic dystrophy	ORPHAnet
0‑L	274	Bernard-Soulier syndrome	ORPHAnet
0‑L	275	Severe combined immunodeficiency due to DCLRE1C deficiency	ORPHAnet
0‑L	276	T-B+ severe combined immunodeficiency due to gamma chain deficiency	ORPHAnet
0‑L	277	Severe combined immunodeficiency due to adenosine deaminase deficiency	ORPHAnet
0‑L	280	Wolf-Hirschhorn syndrome	ORPHAnet
0‑L	281	Monosomy 5p	ORPHAnet
0‑L	283	Demodicidosis	ORPHAnet
0‑L	284	Alveolar echinococcosis	ORPHAnet
0‑L	285	Hypermobile Ehlers-Danlos syndrome	ORPHAnet
0‑L	286	Vascular Ehlers-Danlos syndrome	ORPHAnet
0‑L	287	Classical Ehlers-Danlos syndrome	ORPHAnet
0‑L	288	Hereditary elliptocytosis	ORPHAnet
0‑L	289	Ellis Van Creveld syndrome	ORPHAnet
0‑L	290	Congenital rubella syndrome	ORPHAnet
0‑L	291	Congenital varicella syndrome	ORPHAnet
0‑L	292	Congenital enterovirus infection	ORPHAnet
0‑L	293	Congenital herpes simplex virus infection	ORPHAnet
0‑L	294	Fetal cytomegalovirus syndrome	ORPHAnet
0‑L	295	Fetal parvovirus syndrome	ORPHAnet
0‑L	296	Ollier disease	ORPHAnet
0‑L	297	Tick-borne encephalitis	ORPHAnet
0‑L	298	Mitochondrial neurogastrointestinal encephalomyopathy	ORPHAnet
0‑L	300	Bifunctional enzyme deficiency	ORPHAnet
0‑L	302	Epidermodysplasia verruciformis	ORPHAnet
0‑L	306	Benign familial infantile epilepsy	ORPHAnet
0‑L	307	Juvenile myoclonic epilepsy	ORPHAnet
0‑L	308	Progressive myoclonic epilepsy type 1	ORPHAnet
0‑L	312	Autosomal dominant epidermolytic ichthyosis	ORPHAnet
0‑L	313	Lamellar ichthyosis	ORPHAnet
0‑L	314	Erythroderma desquamativum	ORPHAnet
0‑L	315	Erythrokeratoderma ''en cocardes''	ORPHAnet
0‑L	316	Progressive symmetric erythrokeratodermia	ORPHAnet
0‑L	317	Erythrokeratodermia variabilis	ORPHAnet
0‑L	318	Acute erythroid leukemia	ORPHAnet
0‑L	319	Skeletal Ewing sarcoma	ORPHAnet
0‑L	320	Apparent mineralocorticoid excess	ORPHAnet
0‑L	321	Multiple osteochondromas	ORPHAnet
0‑L	322	Exstrophy-epispadias complex	ORPHAnet
0‑L	324	Fabry disease	ORPHAnet
0‑L	325	Congenital factor II deficiency	ORPHAnet
0‑L	326	Congenital factor V deficiency	ORPHAnet
0‑L	327	Congenital factor VII deficiency	ORPHAnet
0‑L	328	Congenital factor X deficiency	ORPHAnet
0‑L	329	Congenital factor XI deficiency	ORPHAnet
0‑L	330	Congenital factor XII deficiency	ORPHAnet
0‑L	331	Congenital factor XIII deficiency	ORPHAnet
0‑L	332	Congenital intrinsic factor deficiency	ORPHAnet
0‑L	333	Farber disease	ORPHAnet
0‑L	334	Familial atrial fibrillation	ORPHAnet
0‑L	335	Congenital fibrinogen deficiency	ORPHAnet
0‑L	337	Fibrodysplasia ossificans progressiva	ORPHAnet
0‑L	340	Hemorrhagic fever-renal syndrome	ORPHAnet
0‑L	342	Familial Mediterranean fever	ORPHAnet
0‑L	343	Hyperimmunoglobulinemia D with periodic fever	ORPHAnet
0‑L	345	Dissecting cellulitis of the scalp	ORPHAnet
0‑L	346	Quinquaud folliculitis decalvans	ORPHAnet
0‑L	347	Frasier syndrome	ORPHAnet
0‑L	348	Fructose-1,6-bisphosphatase deficiency	ORPHAnet
0‑L	349	Fucosidosis	ORPHAnet
0‑L	351	Galactosialidosis	ORPHAnet
0‑L	353	Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5	ORPHAnet
0‑L	354	GM1 gangliosidosis	ORPHAnet
0‑L	355	Gaucher disease	ORPHAnet
0‑L	356	Gerstmann-Straussler-Scheinker syndrome	ORPHAnet
0‑L	358	Gitelman syndrome	ORPHAnet
0‑L	360	Glioblastoma	ORPHAnet
0‑L	361	Familial glucocorticoid deficiency	ORPHAnet
0‑L	364	Glycogen storage disease due to glucose-6-phosphatase deficiency	ORPHAnet
0‑L	365	Glycogen storage disease due to acid maltase deficiency	ORPHAnet
0‑L	366	Glycogen storage disease due to glycogen debranching enzyme deficiency	ORPHAnet
0‑L	367	Glycogen storage disease due to glycogen branching enzyme deficiency	ORPHAnet
0‑L	368	Glycogen storage disease due to muscle glycogen phosphorylase deficiency	ORPHAnet
0‑L	369	Glycogen storage disease due to liver glycogen phosphorylase deficiency	ORPHAnet
0‑L	371	Glycogen storage disease due to muscle phosphofructokinase deficiency	ORPHAnet
0‑L	373	Simpson-Golabi-Behmel syndrome	ORPHAnet
0‑L	375	Anti-glomerular basement membrane disease	ORPHAnet
0‑L	376	Gordon syndrome	ORPHAnet
0‑L	377	Gorlin syndrome	ORPHAnet
0‑L	379	Chronic granulomatous disease	ORPHAnet
0‑L	380	Greig cephalopolysyndactyly syndrome	ORPHAnet
0‑L	381	Griscelli syndrome	ORPHAnet
0‑L	382	Guanidinoacetate methyltransferase deficiency	ORPHAnet
0‑L	384	Huriez syndrome	ORPHAnet
0‑L	386	Hepatic cystic hamartoma	ORPHAnet
0‑L	388	Hirschsprung disease	ORPHAnet
0‑L	389	Langerhans cell histiocytosis	ORPHAnet
0‑L	390	Histoplasmosis	ORPHAnet
0‑L	391	Classic Hodgkin lymphoma	ORPHAnet
0‑L	392	Holt-Oram syndrome	ORPHAnet
0‑L	393	46,XX testicular disorder of sex development	ORPHAnet
0‑L	394	Classic homocystinuria	ORPHAnet
0‑L	395	Homocystinuria due to methylene tetrahydrofolate reductase deficiency	ORPHAnet
0‑L	396	Chronic hiccup	ORPHAnet
0‑L	397	Giant cell arteritis	ORPHAnet
0‑L	399	Huntington disease	ORPHAnet
0‑L	400	Cystic echinococcosis	ORPHAnet
0‑L	401	Hymenolepiasis	ORPHAnet
0‑L	403	Familial hyperaldosteronism type I	ORPHAnet
0‑L	404	Familial hyperaldosteronism type II	ORPHAnet
0‑L	405	Familial hypocalciuric hypercalcemia	ORPHAnet
0‑L	407	Glycine encephalopathy	ORPHAnet
0‑L	408	Isolated glycerol kinase deficiency	ORPHAnet
0‑L	409	Hyperkeratosis lenticularis perstans	ORPHAnet
0‑L	412	Dysbetalipoproteinemia	ORPHAnet
0‑L	414	Gyrate atrophy of choroid and retina	ORPHAnet
0‑L	415	Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome	ORPHAnet
0‑L	416	Primary hyperoxaluria	ORPHAnet
0‑L	417	Neonatal severe primary hyperparathyroidism	ORPHAnet
0‑L	419	Hyperprolinemia type 1	ORPHAnet
0‑L	422	Idiopathic/heritable pulmonary arterial hypertension	ORPHAnet
0‑L	423	Malignant hyperthermia of anesthesia	ORPHAnet
0‑L	424	Familial hyperthyroidism due to mutations in TSH receptor	ORPHAnet
0‑L	425	Apolipoprotein A-I deficiency	ORPHAnet
0‑L	427	Familial hypoaldosteronism	ORPHAnet
0‑L	428	Autosomal dominant hypocalcemia	ORPHAnet
0‑L	429	Hypochondroplasia	ORPHAnet
0‑L	432	Normosmic congenital hypogonadotropic hypogonadism	ORPHAnet
0‑L	436	Hypophosphatasia	ORPHAnet
0‑L	439	Isolated right ventricular hypoplasia	ORPHAnet
0‑L	441	Pure autonomic failure	ORPHAnet
0‑L	444	Marie Unna hereditary hypotrichosis	ORPHAnet
0‑L	446	Neonatal hemochromatosis	ORPHAnet
0‑L	447	Paroxysmal nocturnal hemoglobinuria	ORPHAnet
0‑L	449	Hepatoblastoma	ORPHAnet
0‑L	452	X-linked lissencephaly with abnormal genitalia	ORPHAnet
0‑L	454	Acquired ichthyosis	ORPHAnet
0‑L	455	Superficial epidermolytic ichthyosis	ORPHAnet
0‑L	457	Harlequin ichthyosis	ORPHAnet
0‑L	461	Recessive X-linked ichthyosis	ORPHAnet
0‑L	464	Incontinentia pigmenti	ORPHAnet
0‑L	465	Congenital plasminogen activator inhibitor type 1 deficiency	ORPHAnet
0‑L	466	Fatal familial insomnia	ORPHAnet
0‑L	469	Hereditary fructose intolerance	ORPHAnet
0‑L	470	Lysinuric protein intolerance	ORPHAnet
0‑L	472	Isosporiasis	ORPHAnet
0‑L	474	Jeune syndrome	ORPHAnet
0‑L	475	Joubert syndrome	ORPHAnet
0‑L	477	KID syndrome	ORPHAnet
0‑L	478	Kallmann syndrome	ORPHAnet
0‑L	480	Kearns-Sayre syndrome	ORPHAnet
0‑L	481	Kennedy disease	ORPHAnet
0‑L	482	Kimura disease	ORPHAnet
0‑L	483	Congenital high-molecular-weight kininogen deficiency	ORPHAnet
0‑L	485	Kniest dysplasia	ORPHAnet
0‑L	486	Autosomal dominant severe congenital neutropenia	ORPHAnet
0‑L	487	Krabbe disease	ORPHAnet
0‑L	488	Urachal cyst	ORPHAnet
0‑L	490	Omphalomesenteric cyst	ORPHAnet
0‑L	492	Proliferating trichilemmal cyst	ORPHAnet
0‑L	493	Familial keratoacanthoma	ORPHAnet
0‑L	494	Keratoderma hereditarium mutilans	ORPHAnet
0‑L	495	Transgrediens et progrediens palmoplantar keratoderma	ORPHAnet
0‑L	499	Kerion celsi	ORPHAnet
0‑L	500	Noonan syndrome with multiple lentigines	ORPHAnet
0‑L	501	Lafora disease	ORPHAnet
0‑L	502	Trichorhinophalangeal syndrome type 2	ORPHAnet
0‑L	503	Larsen syndrome	ORPHAnet
0‑L	504	Creeping myiasis	ORPHAnet
0‑L	505	Graham Little-Piccardi-Lassueur syndrome	ORPHAnet
0‑L	507	Leishmaniasis	ORPHAnet
0‑L	508	Leprechaunism	ORPHAnet
0‑L	509	Leptospirosis	ORPHAnet
0‑L	510	Lesch-Nyhan syndrome	ORPHAnet
0‑L	511	Maple syrup urine disease	ORPHAnet
0‑L	512	Metachromatic leukodystrophy	ORPHAnet
0‑L	514	Acute monoblastic/monocytic leukemia	ORPHAnet
0‑L	517	Acute myelomonocytic leukemia	ORPHAnet
0‑L	518	Acute megakaryoblastic leukemia	ORPHAnet
0‑L	520	Acute promyelocytic leukemia	ORPHAnet
0‑L	521	Chronic myeloid leukemia	ORPHAnet
0‑L	523	Hereditary leiomyomatosis and renal cell cancer	ORPHAnet
0‑L	524	Li-Fraumeni syndrome	ORPHAnet
0‑L	525	Lichen planopilaris	ORPHAnet
0‑L	526	Liddle syndrome	ORPHAnet
0‑L	528	Congenital generalized lipodystrophy	ORPHAnet
0‑L	529	Roch-Leri mesosomatous lipomatosis	ORPHAnet
0‑L	530	Lipoid proteinosis	ORPHAnet
0‑L	531	Miller-Dieker syndrome	ORPHAnet
0‑L	533	Listeriosis	ORPHAnet
0‑L	534	Oculocerebrorenal syndrome of Lowe	ORPHAnet
0‑L	536	Systemic lupus erythematosus	ORPHAnet
0‑L	537	Toxic epidermal necrolysis	ORPHAnet
0‑L	538	Lymphangioleiomyomatosis	ORPHAnet
0‑L	540	Familial hemophagocytic lymphohistiocytosis	ORPHAnet
0‑L	543	Burkitt lymphoma	ORPHAnet
0‑L	545	Follicular lymphoma	ORPHAnet
0‑L	548	Leprosy	ORPHAnet
0‑L	549	Legionnaires disease	ORPHAnet
0‑L	550	MELAS	ORPHAnet
0‑L	551	MERRF	ORPHAnet
0‑L	552	MODY	ORPHAnet
0‑L	556	Malakoplakia	ORPHAnet
0‑L	558	Marfan syndrome	ORPHAnet
0‑L	559	Marinesco-Sjögren syndrome	ORPHAnet
0‑L	560	Marshall syndrome	ORPHAnet
0‑L	561	Marshall-Smith syndrome	ORPHAnet
0‑L	562	McCune-Albright syndrome	ORPHAnet
0‑L	563	Peripartum cardiomyopathy	ORPHAnet
0‑L	564	Meckel syndrome	ORPHAnet
0‑L	565	Menkes disease	ORPHAnet
0‑L	566	Congenital microcoria	ORPHAnet
0‑L	567	22q11.2 deletion syndrome	ORPHAnet
0‑L	568	Microphthalmia, Lenz type	ORPHAnet
0‑L	569	Familial or sporadic hemiplegic migraine	ORPHAnet
0‑L	570	Moebius syndrome	ORPHAnet
0‑L	572	Immunodeficiency by defective expression of MHC class II	ORPHAnet
0‑L	573	Monilethrix	ORPHAnet
0‑L	574	Monosomy 21	ORPHAnet
0‑L	575	Muckle-Wells syndrome	ORPHAnet
0‑L	576	Mucolipidosis type II	ORPHAnet
0‑L	577	Mucolipidosis type III	ORPHAnet
0‑L	578	Mucolipidosis type IV	ORPHAnet
0‑L	579	Mucopolysaccharidosis type 1	ORPHAnet
0‑L	580	Mucopolysaccharidosis type 2	ORPHAnet
0‑L	581	Mucopolysaccharidosis type 3	ORPHAnet
0‑L	582	Mucopolysaccharidosis type 4	ORPHAnet
0‑L	583	Mucopolysaccharidosis type 6	ORPHAnet
0‑L	584	Mucopolysaccharidosis type 7	ORPHAnet
0‑L	585	Multiple sulfatase deficiency	ORPHAnet
0‑L	586	Cystic fibrosis	ORPHAnet
0‑L	587	Muir-Torre syndrome	ORPHAnet
0‑L	588	Muscle-eye-brain disease	ORPHAnet
0‑L	589	Myasthenia gravis	ORPHAnet
0‑L	590	Congenital myasthenic syndrome	ORPHAnet
0‑L	591	Furuncular myiasis	ORPHAnet
0‑L	592	Macrophagic myofasciitis	ORPHAnet
0‑L	596	X-linked centronuclear myopathy	ORPHAnet
0‑L	597	Central core disease	ORPHAnet
0‑L	598	Multiminicore myopathy	ORPHAnet
0‑L	600	Vocal cord and pharyngeal distal myopathy	ORPHAnet
0‑L	602	GNE myopathy	ORPHAnet
0‑L	603	Distal myopathy, Welander type	ORPHAnet
0‑L	606	Proximal myotonic myopathy	ORPHAnet
0‑L	609	Tibial muscular dystrophy	ORPHAnet
0‑L	610	Bethlem myopathy	ORPHAnet
0‑L	611	Inclusion body myositis	ORPHAnet
0‑L	614	Thomsen and Becker disease	ORPHAnet
0‑L	615	Familial atrial myxoma	ORPHAnet
0‑L	616	Medulloblastoma	ORPHAnet
0‑L	617	Congenital primary megaureter	ORPHAnet
0‑L	618	Familial melanoma	ORPHAnet
0‑L	621	Hereditary methemoglobinemia	ORPHAnet
0‑L	622	Homocystinuria without methylmalonic aciduria	ORPHAnet
0‑L	624	Familial multiple nevi flammei	ORPHAnet
0‑L	626	Large congenital melanocytic nevus	ORPHAnet
0‑L	627	Nance-Horan syndrome	ORPHAnet
0‑L	628	Diastrophic dysplasia	ORPHAnet
0‑L	629	Short stature due to growth hormone qualitative anomaly	ORPHAnet
0‑L	631	Non-acquired isolated growth hormone deficiency	ORPHAnet
0‑L	632	Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia	ORPHAnet
0‑L	633	Laron syndrome	ORPHAnet
0‑L	634	Netherton syndrome	ORPHAnet
0‑L	635	Neuroblastoma	ORPHAnet
0‑L	636	Neurofibromatosis type 1	ORPHAnet
0‑L	637	Neurofibromatosis type 2	ORPHAnet
0‑L	638	Neurofibromatosis-Noonan syndrome	ORPHAnet
0‑L	639	Polyneuropathy associated with IgM monoclonal gammapathy with anti-MAG	ORPHAnet
0‑L	640	Hereditary neuropathy with liability to pressure palsies	ORPHAnet
0‑L	641	Multifocal motor neuropathy	ORPHAnet
0‑L	642	Hereditary sensory and autonomic neuropathy type 4	ORPHAnet
0‑L	643	Giant axonal neuropathy	ORPHAnet
0‑L	644	NARP syndrome	ORPHAnet
0‑L	646	Niemann-Pick disease type C	ORPHAnet
0‑L	647	Nijmegen breakage syndrome	ORPHAnet
0‑L	648	Noonan syndrome	ORPHAnet
0‑L	649	Norrie disease	ORPHAnet
0‑L	650	LCAT deficiency	ORPHAnet
0‑L	652	Multiple endocrine neoplasia type 1	ORPHAnet
0‑L	653	Multiple endocrine neoplasia type 2	ORPHAnet
0‑L	654	Nephroblastoma	ORPHAnet
0‑L	655	Nephronophthisis	ORPHAnet
0‑L	656	Genetic steroid-resistant nephrotic syndrome	ORPHAnet
0‑L	659	Mutilating palmoplantar keratoderma with periorificial keratotic plaques	ORPHAnet
0‑L	660	Omphalocele	ORPHAnet
0‑L	661	Congenital central hypoventilation syndrome	ORPHAnet
0‑L	662	Yellow nail syndrome	ORPHAnet
0‑L	663	Mitochondrial DNA-related progressive external ophthalmoplegia	ORPHAnet
0‑L	664	Ornithine transcarbamylase deficiency	ORPHAnet
0‑L	666	Osteogenesis imperfecta	ORPHAnet
0‑L	667	Autosomal recessive malignant osteopetrosis	ORPHAnet
0‑L	668	Osteosarcoma	ORPHAnet
0‑L	672	Pallister-Hall syndrome	ORPHAnet
0‑L	673	Malaria	ORPHAnet
0‑L	674	Accessory pancreas	ORPHAnet
0‑L	675	Annular pancreas	ORPHAnet
0‑L	676	Hereditary chronic pancreatitis	ORPHAnet
0‑L	677	Pancreatoblastoma	ORPHAnet
0‑L	678	Papillon-Lefèvre syndrome	ORPHAnet
0‑L	679	Malignant atrophic papulosis	ORPHAnet
0‑L	681	Hypokalemic periodic paralysis	ORPHAnet
0‑L	682	Hyperkalemic periodic paralysis	ORPHAnet
0‑L	683	Progressive supranuclear palsy	ORPHAnet
0‑L	684	Paramyotonia congenita of Von Eulenburg	ORPHAnet
0‑L	699	Pearson syndrome	ORPHAnet
0‑L	700	Alopecia totalis	ORPHAnet
0‑L	701	Alopecia universalis	ORPHAnet
0‑L	702	Pelizaeus-Merzbacher disease	ORPHAnet
0‑L	703	Bullous pemphigoid	ORPHAnet
0‑L	704	Pemphigus vulgaris	ORPHAnet
0‑L	705	Pendred syndrome	ORPHAnet
0‑L	707	Plague	ORPHAnet
0‑L	708	Peters anomaly	ORPHAnet
0‑L	709	Peters plus syndrome	ORPHAnet
0‑L	710	Pfeiffer syndrome	ORPHAnet
0‑L	712	Hemolytic anemia due to glucophosphate isomerase deficiency	ORPHAnet
0‑L	713	Glycogen storage disease due to phosphoglycerate kinase 1 deficiency	ORPHAnet
0‑L	714	Hemolytic anemia due to diphosphoglycerate mutase deficiency	ORPHAnet
0‑L	715	Glycogen storage disease due to muscle phosphorylase kinase deficiency	ORPHAnet
0‑L	716	Phenylketonuria	ORPHAnet
0‑L	718	Isolated Pierre Robin syndrome	ORPHAnet
0‑L	720	Pili bifurcati	ORPHAnet
0‑L	721	Gray platelet syndrome	ORPHAnet
0‑L	722	Hypoplasminogenemia	ORPHAnet
0‑L	723	Pneumocystosis	ORPHAnet
0‑L	724	Idiopathic acute eosinophilic pneumonia	ORPHAnet
0‑L	725	Continuous spikes and waves during sleep	ORPHAnet
0‑L	726	Alpers-Huttenlocher syndrome	ORPHAnet
0‑L	727	Microscopic polyangiitis	ORPHAnet
0‑L	728	Relapsing polychondritis	ORPHAnet
0‑L	729	Polycythemia vera	ORPHAnet
0‑L	730	Autosomal dominant polycystic kidney disease	ORPHAnet
0‑L	731	Autosomal recessive polycystic kidney disease	ORPHAnet
0‑L	732	Polymyositis	ORPHAnet
0‑L	733	Familial adenomatous polyposis	ORPHAnet
0‑L	734	Alpha delta granule deficiency	ORPHAnet
0‑L	735	Porokeratosis of Mibelli	ORPHAnet
0‑L	737	Porokeratosis plantaris palmaris et disseminata	ORPHAnet
0‑L	739	Prader-Willi syndrome	ORPHAnet
0‑L	740	Hutchinson-Gilford progeria syndrome	ORPHAnet
0‑L	741	Familial mitral valve prolapse	ORPHAnet
0‑L	742	Prolidase deficiency	ORPHAnet
0‑L	743	Severe hereditary thrombophilia due to congenital protein S deficiency	ORPHAnet
0‑L	744	Proteus syndrome	ORPHAnet
0‑L	745	Severe hereditary thrombophilia due to congenital protein C deficiency	ORPHAnet
0‑L	746	Mitochondrial trifunctional protein deficiency	ORPHAnet
0‑L	747	Autoimmune pulmonary alveolar proteinosis	ORPHAnet
0‑L	749	Congenital prekallikrein deficiency	ORPHAnet
0‑L	750	Pseudoachondroplasia	ORPHAnet
0‑L	752	46,XY disorder of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency	ORPHAnet
0‑L	753	46,XY disorder of sex development due to 5-alpha-reductase 2 deficiency	ORPHAnet
0‑L	755	Leydig cell hypoplasia	ORPHAnet
0‑L	756	Pseudohypoaldosteronism type 1	ORPHAnet
0‑L	757	Pseudohypoaldosteronism type 2	ORPHAnet
0‑L	758	Pseudoxanthoma elasticum	ORPHAnet
0‑L	759	Central precocious puberty	ORPHAnet
0‑L	760	Purine nucleoside phosphorylase deficiency	ORPHAnet
0‑L	761	Immunoglobulin A vasculitis	ORPHAnet
0‑L	763	Pycnodysostosis	ORPHAnet
0‑L	764	Pyomyositis	ORPHAnet
0‑L	765	Pyruvate dehydrogenase deficiency	ORPHAnet
0‑L	766	Hemolytic anemia due to red cell pyruvate kinase deficiency	ORPHAnet
0‑L	767	Polyarteritis nodosa	ORPHAnet
0‑L	769	Rabson-Mendenhall syndrome	ORPHAnet
0‑L	770	Rabies	ORPHAnet
0‑L	772	Infantile Refsum disease	ORPHAnet
0‑L	773	Refsum disease	ORPHAnet
0‑L	774	Hereditary hemorrhagic telangiectasia	ORPHAnet
0‑L	776	Lujan-Fryns syndrome	ORPHAnet
0‑L	777	X-linked non-syndromic intellectual disability	ORPHAnet
0‑L	778	Rett syndrome	ORPHAnet
0‑L	779	Reynolds syndrome	ORPHAnet
0‑L	780	Rhabdomyosarcoma	ORPHAnet
0‑L	781	Q fever	ORPHAnet
0‑L	782	Axenfeld-Rieger syndrome	ORPHAnet
0‑L	783	Rubinstein-Taybi syndrome	ORPHAnet
0‑L	785	Estrogen resistance syndrome	ORPHAnet
0‑L	786	Generalized glucocorticoid resistance syndrome	ORPHAnet
0‑L	790	Retinoblastoma	ORPHAnet
0‑L	791	Retinitis pigmentosa	ORPHAnet
0‑L	792	X-linked retinoschisis	ORPHAnet
0‑L	793	SAPHO syndrome	ORPHAnet
0‑L	794	Saethre-Chotzen syndrome	ORPHAnet
0‑L	796	Sandhoff disease	ORPHAnet
0‑L	797	Sarcoidosis	ORPHAnet
0‑L	798	Schinzel-Giedion syndrome	ORPHAnet
0‑L	799	Schizencephaly	ORPHAnet
0‑L	800	Schwartz-Jampel syndrome	ORPHAnet
0‑L	803	Amyotrophic lateral sclerosis	ORPHAnet
0‑L	805	Tuberous sclerosis complex	ORPHAnet
0‑L	806	Scott syndrome	ORPHAnet
0‑L	808	Seckel syndrome	ORPHAnet
0‑L	809	Mixed connective tissue disease	ORPHAnet
0‑L	810	Shigellosis	ORPHAnet
0‑L	811	Shwachman-Diamond syndrome	ORPHAnet
0‑L	812	Sialidosis type 1	ORPHAnet
0‑L	813	Silver-Russell syndrome	ORPHAnet
0‑L	816	Sjögren-Larsson syndrome	ORPHAnet
0‑L	818	Smith-Lemli-Opitz syndrome	ORPHAnet
0‑L	819	Smith-Magenis syndrome	ORPHAnet
0‑L	820	Sneddon syndrome	ORPHAnet
0‑L	821	Sotos syndrome	ORPHAnet
0‑L	822	Hereditary spherocytosis	ORPHAnet
0‑L	824	Primary myelofibrosis	ORPHAnet
0‑L	826	Sporotrichosis	ORPHAnet
0‑L	827	Stargardt disease	ORPHAnet
0‑L	828	Stickler syndrome	ORPHAnet
0‑L	829	Adult-onset Still disease	ORPHAnet
0‑L	831	Congenital cervical spinal stenosis	ORPHAnet
0‑L	832	Succinyl-CoA:3-oxoacid CoA transferase deficiency	ORPHAnet
0‑L	833	Encephalopathy due to sulfite oxidase deficiency	ORPHAnet
0‑L	834	Free sialic acid storage disease	ORPHAnet
0‑L	838	Susac syndrome	ORPHAnet
0‑L	839	Congenital nephrotic syndrome, Finnish type	ORPHAnet
0‑L	840	Syringocystadenoma papilliferum	ORPHAnet
0‑L	841	Sebocystomatosis	ORPHAnet
0‑L	842	Testicular seminomatous germ cell tumor	ORPHAnet
0‑L	844	Lown-Ganong-Levine syndrome	ORPHAnet
0‑L	845	Tay-Sachs disease	ORPHAnet
0‑L	846	Alpha-thalassemia	ORPHAnet
0‑L	847	Alpha-thalassemia-X-linked intellectual disability syndrome	ORPHAnet
0‑L	848	Beta-thalassemia	ORPHAnet
0‑L	849	Glanzmann thrombasthenia	ORPHAnet
0‑L	851	Paris-Trousseau thrombocytopenia	ORPHAnet
0‑L	852	X-linked thrombocytopenia with normal platelets	ORPHAnet
0‑L	853	Fetal and neonatal alloimmune thrombocytopenia	ORPHAnet
0‑L	854	Primitive portal vein thrombosis	ORPHAnet
0‑L	857	Townes-Brocks syndrome	ORPHAnet
0‑L	858	Congenital toxoplasmosis	ORPHAnet
0‑L	859	Transcobalamin deficiency	ORPHAnet
0‑L	860	Congenitally uncorrected transposition of the great arteries	ORPHAnet
0‑L	861	Treacher-Collins syndrome	ORPHAnet
0‑L	863	Trichinellosis	ORPHAnet
0‑L	864	Trichofolliculoma	ORPHAnet
0‑L	867	Familial multiple trichoepithelioma	ORPHAnet
0‑L	868	Triose phosphate-isomerase deficiency	ORPHAnet
0‑L	869	Triple A syndrome	ORPHAnet
0‑L	870	Down syndrome	ORPHAnet
0‑L	871	Familial progressive cardiac conduction defect	ORPHAnet
0‑L	873	Desmoid tumor	ORPHAnet
0‑L	874	Primary adult heart tumor	ORPHAnet
0‑L	875	Primary pediatric heart tumor	ORPHAnet
0‑L	876	Yolk sac tumor	ORPHAnet
0‑L	879	Tungiasis	ORPHAnet
0‑L	881	Turner syndrome	ORPHAnet
0‑L	882	Tyrosinemia type 1	ORPHAnet
0‑L	883	Extragonadal teratoma	ORPHAnet
0‑L	884	Tetrasomy 12p	ORPHAnet
0‑L	886	Usher syndrome	ORPHAnet
0‑L	887	VACTERL/VATER association	ORPHAnet
0‑L	888	Van der Woude syndrome	ORPHAnet
0‑L	889	Cutaneous small vessel vasculitis	ORPHAnet
0‑L	890	Hepatic veno-occlusive disease	ORPHAnet
0‑L	891	Familial exudative vitreoretinopathy	ORPHAnet
0‑L	892	Von Hippel-Lindau disease	ORPHAnet
0‑L	893	WAGR syndrome	ORPHAnet
0‑L	894	Waardenburg syndrome type 1	ORPHAnet
0‑L	895	Waardenburg syndrome type 2	ORPHAnet
0‑L	896	Waardenburg syndrome type 3	ORPHAnet
0‑L	897	Waardenburg-Shah syndrome	ORPHAnet
0‑L	898	Wagner disease	ORPHAnet
0‑L	899	Walker-Warburg syndrome	ORPHAnet
0‑L	900	Granulomatosis with polyangiitis	ORPHAnet
0‑L	901	Wells syndrome	ORPHAnet
0‑L	902	Werner syndrome	ORPHAnet
0‑L	903	Von Willebrand disease	ORPHAnet
0‑L	904	Williams syndrome	ORPHAnet
0‑L	905	Wilson disease	ORPHAnet
0‑L	906	Wiskott-Aldrich syndrome	ORPHAnet
0‑L	908	Fragile X syndrome	ORPHAnet
0‑L	909	Cerebrotendinous xanthomatosis	ORPHAnet
0‑L	910	Xeroderma pigmentosum	ORPHAnet
0‑L	911	Combined immunodeficiency due to ZAP70 deficiency	ORPHAnet
0‑L	912	Zellweger syndrome	ORPHAnet
0‑L	913	Zollinger-Ellison syndrome	ORPHAnet
0‑L	915	Aarskog-Scott syndrome	ORPHAnet
0‑L	916	Aase-Smith syndrome	ORPHAnet
0‑L	920	Ablepharon macrostomia syndrome	ORPHAnet
0‑L	921	Abruzzo-Erickson syndrome	ORPHAnet
0‑L	922	Familial nasal acilia	ORPHAnet
0‑L	926	Acatalasemia	ORPHAnet
0‑L	927	Hyperammonemia due to N-acetylglutamate synthase deficiency	ORPHAnet
0‑L	929	Achalasia-microcephaly syndrome	ORPHAnet
0‑L	930	Idiopathic achalasia	ORPHAnet
0‑L	931	Acheiropodia	ORPHAnet
0‑L	932	Achondrogenesis	ORPHAnet
0‑L	935	Short-limb skeletal dysplasia with severe combined immunodeficiency	ORPHAnet
0‑L	939	3-hydroxyisobutyric aciduria	ORPHAnet
0‑L	941	D-glyceric aciduria	ORPHAnet
0‑L	943	Malonic aciduria	ORPHAnet
0‑L	945	Acalvaria	ORPHAnet
0‑L	949	Acrocraniofacial dysostosis	ORPHAnet
0‑L	950	Acrodysostosis	ORPHAnet
0‑L	952	Acrofacial dysostosis, Weyers type	ORPHAnet
0‑L	955	Hajdu-Cheney syndrome	ORPHAnet
0‑L	957	Acropectorovertebral dysplasia	ORPHAnet
0‑L	958	Acro-renal-mandibular syndrome	ORPHAnet
0‑L	959	Acro-renal-ocular syndrome	ORPHAnet
0‑L	963	Acromegaly	ORPHAnet
0‑L	968	Acromesomelic dysplasia, Hunter-Thompson type	ORPHAnet
0‑L	969	Acromicric dysplasia	ORPHAnet
0‑L	970	Hereditary sensory and autonomic neuropathy type 2	ORPHAnet
0‑L	971	Acrorenal syndrome	ORPHAnet
0‑L	972	Hereditary continuous muscle fiber activity	ORPHAnet
0‑L	973	Congenital absence/hypoplasia of fingers excluding thumb, unilateral	ORPHAnet
0‑L	974	Adams-Oliver syndrome	ORPHAnet
0‑L	976	Adenine phosphoribosyltransferase deficiency	ORPHAnet
0‑L	977	Adrenomyodystrophy	ORPHAnet
0‑L	978	ADULT syndrome	ORPHAnet
0‑L	980	Absence of the pulmonary artery	ORPHAnet
0‑L	981	Internal carotid absence	ORPHAnet
0‑L	983	Testicular regression syndrome	ORPHAnet
0‑L	984	Pulmonary agenesis	ORPHAnet
0‑L	988	Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome	ORPHAnet
0‑L	989	Hypoglossia-hypodactyly syndrome	ORPHAnet
0‑L	990	Agnathia-holoprosencephaly-situs inversus syndrome	ORPHAnet
0‑L	991	PAGOD syndrome	ORPHAnet
0‑L	994	Fetal akinesia deformation sequence	ORPHAnet
0‑L	998	Albinism-deafness syndrome	ORPHAnet
0‑L	999	Ermine phenotype	ORPHAnet
0‑L	1000	Ocular albinism with late-onset sensorineural deafness	ORPHAnet
0‑L	1001	2q37 microdeletion syndrome	ORPHAnet
0‑L	1003	Scalp defects-postaxial polydactyly syndrome	ORPHAnet
0‑L	1005	Alopecia-contractures-dwarfism-intellectual disability syndrome	ORPHAnet
0‑L	1006	Alopecia antibody deficiency	ORPHAnet
0‑L	1008	Alopecia-epilepsy-pyorrhea-intellectual disability syndrome	ORPHAnet
0‑L	1010	Autosomal dominant palmoplantar keratoderma and congenital alopecia	ORPHAnet
0‑L	1014	Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome	ORPHAnet
0‑L	1018	X-linked Alport syndrome-diffuse leiomyomatosis	ORPHAnet
0‑L	1020	Early-onset autosomal dominant Alzheimer disease	ORPHAnet
0‑L	1021	Amaurosis-hypertrichosis syndrome	ORPHAnet
0‑L	1023	Congenital generalized hypertrichosis, Ambras type	ORPHAnet
0‑L	1027	Autosomal recessive amelia	ORPHAnet
0‑L	1028	Amelo-onycho-hypohidrotic syndrome	ORPHAnet
0‑L	1031	Enamel-renal syndrome	ORPHAnet
0‑L	1035	Beta-mercaptolactate cysteine disulfiduria	ORPHAnet
0‑L	1040	Metaphyseal anadysplasia	ORPHAnet
0‑L	1041	Hydrops fetalis	ORPHAnet
0‑L	1046	Lethal hemolytic anemia-genital anomalies syndrome	ORPHAnet
0‑L	1048	Isolated anencephaly/exencephaly	ORPHAnet
0‑L	1051	Ramos-Arroyo syndrome	ORPHAnet
0‑L	1052	Mosaic variegated aneuploidy syndrome	ORPHAnet
0‑L	1053	Vein of Galen aneurysmal malformation	ORPHAnet
0‑L	1054	Aneurysm of sinus of Valsalva	ORPHAnet
0‑L	1055	Congenital left ventricular aneurysm	ORPHAnet
0‑L	1059	Blue rubber bleb nevus	ORPHAnet
0‑L	1062	Hereditary neurocutaneous malformation	ORPHAnet
0‑L	1063	Tufted angioma	ORPHAnet
0‑L	1064	Aniridia-renal agenesis-psychomotor retardation syndrome	ORPHAnet
0‑L	1065	Aniridia-cerebellar ataxia-intellectual disability syndrome	ORPHAnet
0‑L	1067	Aniridia-ptosis-intellectual disability-familial obesity syndrome	ORPHAnet
0‑L	1068	Aniridia-intellectual disability syndrome	ORPHAnet
0‑L	1069	Aniridia-absent patella syndrome	ORPHAnet
0‑L	1070	Anisakiasis	ORPHAnet
0‑L	1071	Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome	ORPHAnet
0‑L	1072	Ankyloblepharon filiforme adnatum-cleft palate syndrome	ORPHAnet
0‑L	1074	Ankyloblepharon filiforme adnatum-imperforate anus syndrome	ORPHAnet
0‑L	1077	Dental ankylosis	ORPHAnet
0‑L	1078	Thumb stiffness-brachydactyly-intellectual disability syndrome	ORPHAnet
0‑L	1083	Microlissencephaly	ORPHAnet
0‑L	1084	Isolated lissencephaly type 1 without known genetic defects	ORPHAnet
0‑L	1094	Anonychia-microcephaly syndrome	ORPHAnet
0‑L	1101	Anophthalmia-megalocornea-cardiopathy-skeletal anomalies syndrome	ORPHAnet
0‑L	1104	Anophthalmia plus syndrome	ORPHAnet
0‑L	1106	Microphthalmia with limb anomalies	ORPHAnet
0‑L	1110	Aortic arch anomaly-facial dysmorphism-intellectual disability syndrome	ORPHAnet
0‑L	1112	Aphalangy-hemivertebrae-urogenital-intestinal dysgenesis syndrome	ORPHAnet
0‑L	1113	Aphalangy-syndactyly-microcephaly syndrome	ORPHAnet
0‑L	1114	Aplasia cutis congenita	ORPHAnet
0‑L	1116	Aplasia cutis congenita-intestinal lymphangiectasia syndrome	ORPHAnet
0‑L	1117	Aplasia cutis-myopia syndrome	ORPHAnet
0‑L	1118	Fibular aplasia-ectrodactyly syndrome	ORPHAnet
0‑L	1120	Lung agenesis-heart defect-thumb anomalies syndrome	ORPHAnet
0‑L	1121	Radial deficiency-tibial hypoplasia syndrome	ORPHAnet
0‑L	1122	Ulnar hypoplasia-split foot syndrome	ORPHAnet
0‑L	1123	Caudal appendage-deafness syndrome	ORPHAnet
0‑L	1125	Ocular motor apraxia, Cogan type	ORPHAnet
0‑L	1126	Aprosencephaly cerebellar dysgenesis	ORPHAnet
0‑L	1129	Arachnodactyly-abnormal ossification-intellectual disability syndrome	ORPHAnet
0‑L	1130	Arachnodactyly-intellectual disability-dysmorphism syndrome	ORPHAnet
0‑L	1131	X-linked mandibulofacial dysostosis	ORPHAnet
0‑L	1133	AREDYLD syndrome	ORPHAnet
0‑L	1134	Isolated arrhinia	ORPHAnet
0‑L	1135	Arrhinia-choanal atresia-microphthalmia syndrome	ORPHAnet
0‑L	1136	Arnold-Chiari malformation type II	ORPHAnet
0‑L	1143	Neurogenic arthrogryposis multiplex congenita	ORPHAnet
0‑L	1144	Arthrogryposis-like hand anomaly-sensorineural deafness syndrome	ORPHAnet
0‑L	1145	Infantile-onset X-linked spinal muscular atrophy	ORPHAnet
0‑L	1146	Distal arthrogryposis type 1	ORPHAnet
0‑L	1147	Sheldon-Hall syndrome	ORPHAnet
0‑L	1149	Kuskokwim syndrome	ORPHAnet
0‑L	1150	Arthrogryposis multiplex congenita-whistling face syndrome	ORPHAnet
0‑L	1154	Arthrogryposis-oculomotor limitation-electroretinal anomalies syndrome	ORPHAnet
0‑L	1159	Progressive pseudorheumatoid arthropathy of childhood	ORPHAnet
0‑L	1160	Chylous ascites	ORPHAnet
0‑L	1163	Aspergillosis	ORPHAnet
0‑L	1164	Allergic bronchopulmonary aspergillosis	ORPHAnet
0‑L	1166	Congenital unilateral hypoplasia of depressor anguli oris	ORPHAnet
0‑L	1168	Ataxia-oculomotor apraxia type 1	ORPHAnet
0‑L	1170	Autosomal recessive cerebelloparenchymal disorder type 3	ORPHAnet
0‑L	1171	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	ORPHAnet
0‑L	1173	Cerebellar ataxia-hypogonadism syndrome	ORPHAnet
0‑L	1174	Cerebellar ataxia-ectodermal dysplasia syndrome	ORPHAnet
0‑L	1175	X-linked progressive cerebellar ataxia	ORPHAnet
0‑L	1177	Early-onset cerebellar ataxia with retained tendon reflexes	ORPHAnet
0‑L	1178	Ataxia-tapetoretinal degeneration syndrome	ORPHAnet
0‑L	1179	Benign paroxysmal tonic upgaze of childhood with ataxia	ORPHAnet
0‑L	1180	Ataxia-hypogonadism-choroidal dystrophy syndrome	ORPHAnet
0‑L	1182	Spastic ataxia with congenital miosis	ORPHAnet
0‑L	1183	Opsoclonus-myoclonus syndrome	ORPHAnet
0‑L	1184	Ataxia-photosensitivity-short stature syndrome	ORPHAnet
0‑L	1185	Spinocerebellar ataxia-dysmorphism syndrome	ORPHAnet
0‑L	1186	Infantile-onset spinocerebellar ataxia	ORPHAnet
0‑L	1187	Lethal ataxia with deafness and optic atrophy	ORPHAnet
0‑L	1188	Ataxia-deafness-intellectual disability syndrome	ORPHAnet
0‑L	1190	Atelosteogenesis type I	ORPHAnet
0‑L	1192	Atherosclerosis-deafness-diabetes-epilepsy-nephropathy syndrome	ORPHAnet
0‑L	1193	Atkin-Flaitz syndrome	ORPHAnet
0‑L	1194	TMEM70-related mitochondrial encephalo-cardio-myopathy	ORPHAnet
0‑L	1195	Congenital atransferrinemia	ORPHAnet
0‑L	1198	Colonic atresia	ORPHAnet
0‑L	1199	Esophageal atresia	ORPHAnet
0‑L	1200	Burn-McKeown syndrome	ORPHAnet
0‑L	1201	Atresia of small intestine	ORPHAnet
0‑L	1202	Larynx atresia	ORPHAnet
0‑L	1203	Duodenal atresia	ORPHAnet
0‑L	1205	Mitral atresia	ORPHAnet
0‑L	1207	Pulmonary atresia with ventricular septal defect	ORPHAnet
0‑L	1208	Pulmonary atresia-intact ventricular septum syndrome	ORPHAnet
0‑L	1209	Tricuspid atresia	ORPHAnet
0‑L	1214	Progressive hemifacial atrophy	ORPHAnet
0‑L	1215	Autosomal dominant optic atrophy plus syndrome	ORPHAnet
0‑L	1216	Autosomal dominant congenital benign spinal muscular atrophy	ORPHAnet
0‑L	1217	Spinal atrophy-ophthalmoplegia-pyramidal syndrome	ORPHAnet
0‑L	1221	Cheilitis glandularis	ORPHAnet
0‑L	1223	Balantidiasis	ORPHAnet
0‑L	1225	Baller-Gerold syndrome	ORPHAnet
0‑L	1226	Bamforth-Lazarus syndrome	ORPHAnet
0‑L	1227	Bangstad syndrome	ORPHAnet
0‑L	1228	Banki syndrome	ORPHAnet
0‑L	1229	Congenital intrauterine infection-like syndrome	ORPHAnet
0‑L	1231	Barber-Say syndrome	ORPHAnet
0‑L	1234	Bartsocas-Papas syndrome	ORPHAnet
0‑L	1236	Severe microbrachycephaly-intellectual disability-athetoid cerebral palsy syndrome	ORPHAnet
0‑L	1237	Beemer-Ertbruggen syndrome	ORPHAnet
0‑L	1240	Metaphyseal acroscyphodysplasia	ORPHAnet
0‑L	1241	Bencze syndrome	ORPHAnet
0‑L	1243	Best vitelliform macular dystrophy	ORPHAnet
0‑L	1246	Brachydactyly-nystagmus-cerebellar ataxia syndrome	ORPHAnet
0‑L	1247	Schistosomiasis	ORPHAnet
0‑L	1248	Maxillonasal dysplasia	ORPHAnet
0‑L	1252	Blepharonasofacial malformation syndrome	ORPHAnet
0‑L	1253	Ascher syndrome	ORPHAnet
0‑L	1259	Blepharoptosis-myopia-ectopia lentis syndrome	ORPHAnet
0‑L	1261	Bonnemann-Meinecke-Reich syndrome	ORPHAnet
0‑L	1262	Böök syndrome	ORPHAnet
0‑L	1263	Boomerang dysplasia	ORPHAnet
0‑L	1264	Tricho-retino-dento-digital syndrome	ORPHAnet
0‑L	1267	Botulism	ORPHAnet
0‑L	1270	Bowen-Conradi syndrome	ORPHAnet
0‑L	1272	Aymé-Gripp syndrome	ORPHAnet
0‑L	1275	Brachydactyly-elbow wrist dysplasia syndrome	ORPHAnet
0‑L	1276	Brachydactyly-arterial hypertension syndrome	ORPHAnet
0‑L	1277	Brachydactyly-mesomelia-intellectual disability-heart defects syndrome	ORPHAnet
0‑L	1278	Brachydactyly-preaxial hallux varus syndrome	ORPHAnet
0‑L	1292	Brachymorphism-onychodysplasia-dysphalangism syndrome	ORPHAnet
0‑L	1295	Brachytelephalangy-dysmorphism-Kallmann syndrome	ORPHAnet
0‑L	1296	Lambert syndrome	ORPHAnet
0‑L	1297	Branchio-oculo-facial syndrome	ORPHAnet
0‑L	1299	Branchioskeletogenital syndrome	ORPHAnet
0‑L	1300	Autosomal dominant popliteal pterygium syndrome	ORPHAnet
0‑L	1302	Cryptogenic organizing pneumonia	ORPHAnet
0‑L	1303	Bronchiolitis obliterans with obstructive pulmonary disease	ORPHAnet
0‑L	1304	Brucellosis	ORPHAnet
0‑L	1305	Feingold syndrome	ORPHAnet
0‑L	1306	Buschke-Ollendorff syndrome	ORPHAnet
0‑L	1307	Distal limb deficiencies-micrognathia syndrome	ORPHAnet
0‑L	1308	C syndrome	ORPHAnet
0‑L	1309	Medullary sponge kidney	ORPHAnet
0‑L	1310	Caffey disease	ORPHAnet
0‑L	1313	Infantile choroidocerebral calcification syndrome	ORPHAnet
0‑L	1314	Symmetrical thalamic calcifications	ORPHAnet
0‑L	1318	Campomelia, Cumming type	ORPHAnet
0‑L	1319	Camptobrachydactyly	ORPHAnet
0‑L	1320	Idiopathic camptocormia	ORPHAnet
0‑L	1321	Camptodactyly-fibrous tissue hyperplasia-skeletal anomalies syndrome	ORPHAnet
0‑L	1323	Camptodactyly-joint contractures-facial skeletal defects syndrome	ORPHAnet
0‑L	1325	Camptodactyly-taurinuria syndrome	ORPHAnet
0‑L	1326	Camptodactyly syndrome, Guadalajara type 2	ORPHAnet
0‑L	1327	Camptodactyly syndrome, Guadalajara type 1	ORPHAnet
0‑L	1328	Camurati-Engelmann disease	ORPHAnet
0‑L	1329	Complete atrioventricular septal defect	ORPHAnet
0‑L	1330	Partial atrioventricular septal defect	ORPHAnet
0‑L	1331	Familial prostate cancer	ORPHAnet
0‑L	1332	Medullary thyroid carcinoma	ORPHAnet
0‑L	1333	Familial pancreatic carcinoma	ORPHAnet
0‑L	1334	Chronic mucocutaneous candidiasis	ORPHAnet
0‑L	1335	Pentalogy of Cantrell	ORPHAnet
0‑L	1336	Hyperkeratosis-hyperpigmentation syndrome	ORPHAnet
0‑L	1338	Heart defect-tongue hamartoma-polysyndactyly syndrome	ORPHAnet
0‑L	1340	Cardiofaciocutaneous syndrome	ORPHAnet
0‑L	1342	Heart-hand syndrome type 3	ORPHAnet
0‑L	1344	Atrial standstill	ORPHAnet
0‑L	1345	Cardiomyopathy-cataract-hip spine disease syndrome	ORPHAnet
0‑L	1349	Mitochondrial DNA-related cardiomyopathy and hearing loss	ORPHAnet
0‑L	1350	Heart-hand syndrome type 2	ORPHAnet
0‑L	1352	Atrioventricular defect-blepharophimosis-radial and anal defect syndrome	ORPHAnet
0‑L	1354	Heart defects-limb shortening syndrome	ORPHAnet
0‑L	1355	Congenital heart defect-round face-developmental delay syndrome	ORPHAnet
0‑L	1358	Carey-Fineman-Ziter syndrome	ORPHAnet
0‑L	1359	Carney complex	ORPHAnet
0‑L	1361	Carnosinase deficiency	ORPHAnet
0‑L	1366	Autosomal recessive palmoplantar keratoderma and congenital alopecia	ORPHAnet
0‑L	1368	Cataract-ataxia-deafness syndrome	ORPHAnet
0‑L	1369	Congenital cataract-hypertrophic cardiomyopathy-mitochondrial myopathy syndrome	ORPHAnet
0‑L	1373	Cataract-aberrant oral frenula-growth delay syndrome	ORPHAnet
0‑L	1375	Cataract-hypertrichosis-intellectual disability syndrome	ORPHAnet
0‑L	1377	Cataract-microcornea syndrome	ORPHAnet
0‑L	1380	Cataract-nephropathy-encephalopathy syndrome	ORPHAnet
0‑L	1381	Cataract-intellectual disability-anal atresia-urinary defects syndrome	ORPHAnet
0‑L	1383	Cataract-deafness-hypogonadism syndrome	ORPHAnet
0‑L	1387	Cataract-intellectual disability-hypogonadism syndrome	ORPHAnet
0‑L	1388	Catel-Manzke syndrome	ORPHAnet
0‑L	1389	Cortical blindness-intellectual disability-polydactyly syndrome	ORPHAnet
0‑L	1390	Night blindness-skeletal anomalies-dysmorphism syndrome	ORPHAnet
0‑L	1393	Cerebrocostomandibular syndrome	ORPHAnet
0‑L	1394	Cerebrofaciothoracic dysplasia	ORPHAnet
0‑L	1397	Hydrocephaly-cerebellar agenesis syndrome	ORPHAnet
0‑L	1398	Isolated cerebellar agenesis	ORPHAnet
0‑L	1399	Richards-Rundle syndrome	ORPHAnet
0‑L	1401	CHAND syndrome	ORPHAnet
0‑L	1406	Charlie M syndrome	ORPHAnet
0‑L	1410	Uncombable hair syndrome	ORPHAnet
0‑L	1412	Tarsal-carpal coalition syndrome	ORPHAnet
0‑L	1414	Cholestasis-lymphedema syndrome	ORPHAnet
0‑L	1415	Cholestasis-pigmentary retinopathy-cleft palate syndrome	ORPHAnet
0‑L	1416	Familial calcium pyrophosphate deposition	ORPHAnet
0‑L	1422	Chondrodysplasia-disorder of sex development syndrome	ORPHAnet
0‑L	1423	Lethal recessive chondrodysplasia	ORPHAnet
0‑L	1425	Desbuquois syndrome	ORPHAnet
0‑L	1426	Greenberg dysplasia	ORPHAnet
0‑L	1427	Otospondylomegaepiphyseal dysplasia	ORPHAnet
0‑L	1429	Benign hereditary chorea	ORPHAnet
0‑L	1433	Choroidal atrophy-alopecia syndrome	ORPHAnet
0‑L	1435	Xq21 microdeletion syndrome	ORPHAnet
0‑L	1436	X-linked skeletal dysplasia-intellectual disability syndrome	ORPHAnet
0‑L	1437	Ring chromosome 1 syndrome	ORPHAnet
0‑L	1438	Ring chromosome 10 syndrome	ORPHAnet
0‑L	1439	Ring chromosome 12 syndrome	ORPHAnet
0‑L	1440	Ring chromosome 14 syndrome	ORPHAnet
0‑L	1441	Ring chromosome 17 syndrome	ORPHAnet
0‑L	1442	Ring chromosome 18 syndrome	ORPHAnet
0‑L	1443	Ring chromosome 19 syndrome	ORPHAnet
0‑L	1444	Ring chromosome 20 syndrome	ORPHAnet
0‑L	1445	Ring chromosome 21 syndrome	ORPHAnet
0‑L	1446	Ring chromosome 22 syndrome	ORPHAnet
0‑L	1447	Ring chromosome 4 syndrome	ORPHAnet
0‑L	1448	Ring chromosome 6 syndrome	ORPHAnet
0‑L	1449	Ring chromosome 7 syndrome	ORPHAnet
0‑L	1450	Ring chromosome 8 syndrome	ORPHAnet
0‑L	1451	CINCA syndrome	ORPHAnet
0‑L	1452	Cleidocranial dysplasia	ORPHAnet
0‑L	1453	Cleidorhizomelic syndrome	ORPHAnet
0‑L	1454	Joubert syndrome with hepatic defect	ORPHAnet
0‑L	1455	Autosomal dominant coarctation of aorta	ORPHAnet
0‑L	1456	Atypical coarctation of aorta	ORPHAnet
0‑L	1457	Aorta coarctation	ORPHAnet
0‑L	1458	CODAS syndrome	ORPHAnet
0‑L	1459	Celiac disease-epilepsy-cerebral calcification syndrome	ORPHAnet
0‑L	1460	Isolated complex III deficiency	ORPHAnet
0‑L	1461	Criss-cross heart	ORPHAnet
0‑L	1464	Univentricular heart	ORPHAnet
0‑L	1465	Coffin-Siris syndrome	ORPHAnet
0‑L	1466	COFS syndrome	ORPHAnet
0‑L	1467	Cogan syndrome	ORPHAnet
0‑L	1471	Coloboma of macula-brachydactyly type B syndrome	ORPHAnet
0‑L	1473	Uveal coloboma-cleft lip and palate-intellectual disability	ORPHAnet
0‑L	1475	Renal coloboma syndrome	ORPHAnet
0‑L	1478	Interatrial communication	ORPHAnet
0‑L	1479	Atrial septal defect-atrioventricular conduction defects syndrome	ORPHAnet
0‑L	1482	Gonococcal conjunctivitis	ORPHAnet
0‑L	1484	Contractures-ectodermal dysplasia-cleft lip/palate syndrome	ORPHAnet
0‑L	1485	Arthrogryposis-hyperkeratosis syndrome, lethal form	ORPHAnet
0‑L	1486	Lethal congenital contracture syndrome type 1	ORPHAnet
0‑L	1487	Cooks syndrome	ORPHAnet
0‑L	1488	Cooper-Jabs syndrome	ORPHAnet
0‑L	1489	Whooping cough	ORPHAnet
0‑L	1490	Corneal dystrophy-perceptive deafness syndrome	ORPHAnet
0‑L	1493	Vici syndrome	ORPHAnet
0‑L	1495	Intellectual disability-hypoplastic corpus callosum-preauricular tag syndrome	ORPHAnet
0‑L	1496	Corpus callosum agenesis-neuronopathy syndrome	ORPHAnet
0‑L	1497	X-linked complicated corpus callosum dysgenesis	ORPHAnet
0‑L	1501	Adrenocortical carcinoma	ORPHAnet
0‑L	1506	Thin ribs-tubular bones-dysmorphism syndrome	ORPHAnet
0‑L	1507	Autosomal recessive Robinow syndrome	ORPHAnet
0‑L	1508	Coxoauricular syndrome	ORPHAnet
0‑L	1509	Coxopodopatellar syndrome	ORPHAnet
0‑L	1512	Crane-Heise syndrome	ORPHAnet
0‑L	1513	Craniodiaphyseal dysplasia	ORPHAnet
0‑L	1514	Craniodigital-intellectual disability syndrome	ORPHAnet
0‑L	1515	Cranioectodermal dysplasia	ORPHAnet
0‑L	1516	Non-syndromic bilambdoid and sagittal craniosynostosis	ORPHAnet
0‑L	1517	Cantú syndrome	ORPHAnet
0‑L	1519	SPECC1L-related hypertelorism syndrome	ORPHAnet
0‑L	1520	Craniofrontonasal dysplasia	ORPHAnet
0‑L	1521	Craniofrontonasal dysplasia-Poland anomaly syndrome	ORPHAnet
0‑L	1522	Craniometaphyseal dysplasia	ORPHAnet
0‑L	1524	Craniomicromelic syndrome	ORPHAnet
0‑L	1525	Cranio-osteoarthropathy	ORPHAnet
0‑L	1527	Craniosynostosis, Philadelphia type	ORPHAnet
0‑L	1528	Craniotelencephalic dysplasia	ORPHAnet
0‑L	1529	Craniofacial-deafness-hand syndrome	ORPHAnet
0‑L	1532	Gómez-López-Hernández syndrome	ORPHAnet
0‑L	1538	Craniosynostosis-Dandy-Walker malformation-hydrocephalus syndrome	ORPHAnet
0‑L	1540	Jackson-Weiss syndrome	ORPHAnet
0‑L	1541	Craniosynostosis, Boston type	ORPHAnet
0‑L	1544	Benign focal seizures of adolescence	ORPHAnet
0‑L	1545	Crisponi syndrome	ORPHAnet
0‑L	1546	Cryptococcosis	ORPHAnet
0‑L	1547	Cryptomicrotia-brachydactyly-excess fingertip arch syndrome	ORPHAnet
0‑L	1548	Cryptorchidism-arachnodactyly-intellectual disability syndrome	ORPHAnet
0‑L	1551	Familial benign copper deficiency	ORPHAnet
0‑L	1552	Currarino syndrome	ORPHAnet
0‑L	1553	Curry-Jones syndrome	ORPHAnet
0‑L	1555	Cutis gyrata-acanthosis nigricans-craniosynostosis syndrome	ORPHAnet
0‑L	1556	Cutis marmorata telangiectatica congenita	ORPHAnet
0‑L	1560	Cysticercosis	ORPHAnet
0‑L	1561	Fatal infantile cytochrome C oxidase deficiency	ORPHAnet
0‑L	1562	Dacryocystitis-osteopoikilosis syndrome	ORPHAnet
0‑L	1563	Dahlberg-Borer-Newcomer syndrome	ORPHAnet
0‑L	1566	Dandy-Walker malformation-postaxial polydactyly syndrome	ORPHAnet
0‑L	1568	X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome	ORPHAnet
0‑L	1570	Symbrachydactyly of hands and feet	ORPHAnet
0‑L	1571	Knobloch syndrome	ORPHAnet
0‑L	1572	Common variable immunodeficiency	ORPHAnet
0‑L	1573	Hypotrichosis with juvenile macular degeneration	ORPHAnet
0‑L	1574	Retinal degeneration-nanophthalmos-glaucoma syndrome	ORPHAnet
0‑L	1578	Pterin-4 alpha-carbinolamine dehydratase deficiency	ORPHAnet
0‑L	1580	Distal monosomy 10p	ORPHAnet
0‑L	1581	Non-distal monosomy 10q	ORPHAnet
0‑L	1587	Monosomy 13q14	ORPHAnet
0‑L	1590	Distal monosomy 13q	ORPHAnet
0‑L	1596	Distal monosomy 15q	ORPHAnet
0‑L	1597	Distal monosomy 17q	ORPHAnet
0‑L	1598	Monosomy 18p	ORPHAnet
0‑L	1600	Monosomy 18q	ORPHAnet
0‑L	1606	1p36 deletion syndrome	ORPHAnet
0‑L	1617	2q24 microdeletion syndrome	ORPHAnet
0‑L	1620	Distal monosomy 3p	ORPHAnet
0‑L	1621	3q13 microdeletion syndrome	ORPHAnet
0‑L	1627	Deletion 5q35	ORPHAnet
0‑L	1636	Distal monosomy 7q36	ORPHAnet
0‑L	1642	Distal monosomy 9p	ORPHAnet
0‑L	1643	Xp22.3 microdeletion syndrome	ORPHAnet
0‑L	1646	Partial chromosome Y deletion	ORPHAnet
0‑L	1647	Oculocerebrocutaneous syndrome	ORPHAnet
0‑L	1652	Dent disease	ORPHAnet
0‑L	1653	Dentin dysplasia	ORPHAnet
0‑L	1655	Müllerian derivatives-lymphangiectasia-polydactyly syndrome	ORPHAnet
0‑L	1656	Dermatitis herpetiformis	ORPHAnet
0‑L	1657	Dermatoosteolysis, Kirghizian type	ORPHAnet
0‑L	1658	Absence of fingerprints-congenital milia syndrome	ORPHAnet
0‑L	1659	Dermatoleukodystrophy	ORPHAnet
0‑L	1660	Dermoodontodysplasia	ORPHAnet
0‑L	1661	X-linked corneal dermoid	ORPHAnet
0‑L	1662	Restrictive dermopathy	ORPHAnet
0‑L	1665	Sporadic fetal brain disruption sequence	ORPHAnet
0‑L	1666	Dextrocardia	ORPHAnet
0‑L	1667	Wolcott-Rallison syndrome	ORPHAnet
0‑L	1670	Chronic diarrhea with villous atrophy	ORPHAnet
0‑L	1671	Split cord malformation type I	ORPHAnet
0‑L	1672	Diencephalic syndrome	ORPHAnet
0‑L	1675	Dihydropyrimidine dehydrogenase deficiency	ORPHAnet
0‑L	1676	Idiopathic pulmonary artery dilatation	ORPHAnet
0‑L	1677	Familial idiopathic dilatation of the right atrium	ORPHAnet
0‑L	1679	Diphtheria	ORPHAnet
0‑L	1681	Diprosopus	ORPHAnet
0‑L	1682	Arterial dissection-lentiginosis syndrome	ORPHAnet
0‑L	1685	Distomatosis	ORPHAnet
0‑L	1686	Cardiac diverticulum	ORPHAnet
0‑L	1692	Mosaic trisomy 1	ORPHAnet
0‑L	1695	Non-distal trisomy 10q	ORPHAnet
0‑L	1698	Mosaic trisomy 12	ORPHAnet
0‑L	1699	Trisomy 12p	ORPHAnet
0‑L	1702	Non-distal trisomy 13q	ORPHAnet
0‑L	1703	Mosaic trisomy 14	ORPHAnet
0‑L	1705	Distal trisomy 14q	ORPHAnet
0‑L	1706	Mosaic trisomy 15	ORPHAnet
0‑L	1707	Distal trisomy 15q	ORPHAnet
0‑L	1708	Mosaic trisomy 16	ORPHAnet
0‑L	1711	Mosaic trisomy 17	ORPHAnet
0‑L	1713	17p11.2 microduplication syndrome	ORPHAnet
0‑L	1715	Trisomy 18p	ORPHAnet
0‑L	1716	Distal trisomy 18q	ORPHAnet
0‑L	1717	Distal trisomy 19q	ORPHAnet
0‑L	1723	Mosaic trisomy 2	ORPHAnet
0‑L	1724	Mosaic trisomy 20	ORPHAnet
0‑L	1727	22q11.2 duplication syndrome	ORPHAnet
0‑L	1738	Trisomy 4p	ORPHAnet
0‑L	1742	Trisomy 5p	ORPHAnet
0‑L	1745	Distal trisomy 6p	ORPHAnet
0‑L	1747	Mosaic trisomy 7	ORPHAnet
0‑L	1752	Trisomy 8q	ORPHAnet
0‑L	1756	Caudal duplication	ORPHAnet
0‑L	1757	Fibular dimelia-diplopodia syndrome	ORPHAnet
0‑L	1759	Thoraco-abdominal enteric duplication	ORPHAnet
0‑L	1762	Proximal Xq28 duplication syndrome	ORPHAnet
0‑L	1764	Familial dysautonomia	ORPHAnet
0‑L	1765	Dyschondrosteosis-nephritis syndrome	ORPHAnet
0‑L	1766	Dysequilibrium syndrome	ORPHAnet
0‑L	1768	Familial caudal dysgenesis	ORPHAnet
0‑L	1770	XY type gonadal dysgenesis-associated anomalies syndrome	ORPHAnet
0‑L	1772	45,X/46,XY mixed gonadal dysgenesis	ORPHAnet
0‑L	1775	Dyskeratosis congenita	ORPHAnet
0‑L	1777	Temtamy syndrome	ORPHAnet
0‑L	1778	Facial dysmorphism-shawl scrotum-joint laxity syndrome	ORPHAnet
0‑L	1779	Dysmorphism-cleft palate-loose skin syndrome	ORPHAnet
0‑L	1780	Thakker-Donnai syndrome	ORPHAnet
0‑L	1782	Dysosteosclerosis	ORPHAnet
0‑L	1784	Acrofrontofacionasal dysostosis	ORPHAnet
0‑L	1786	Acrofacial dysostosis, Catania type	ORPHAnet
0‑L	1787	Acrofacial dysostosis, Palagonia type	ORPHAnet
0‑L	1788	Acrofacial dysostosis, Rodríguez type	ORPHAnet
0‑L	1790	Hypomandibular faciocranial dysostosis	ORPHAnet
0‑L	1791	Frontofacionasal dysplasia	ORPHAnet
0‑L	1794	Oculomaxillofacial dysostosis	ORPHAnet
0‑L	1795	Peripheral dysostosis	ORPHAnet
0‑L	1797	Autosomal dominant spondylocostal dysostosis	ORPHAnet
0‑L	1798	Dysostosis, Stanescu type	ORPHAnet
0‑L	1799	Familial developmental dysphasia	ORPHAnet
0‑L	1801	Kyphomelic dysplasia	ORPHAnet
0‑L	1802	Ghosal hematodiaphyseal dysplasia	ORPHAnet
0‑L	1803	Thoracomelic dysplasia	ORPHAnet
0‑L	1806	Ectodermal dysplasia-blindness syndrome	ORPHAnet
0‑L	1807	Focal facial dermal dysplasia type III	ORPHAnet
0‑L	1808	Hidrotic ectodermal dysplasia, Christianson-Fourie type	ORPHAnet
0‑L	1809	Hidrotic ectodermal dysplasia, Halal type	ORPHAnet
0‑L	1810	Autosomal dominant hypohidrotic ectodermal dysplasia	ORPHAnet
0‑L	1811	Odontomicronychial dysplasia	ORPHAnet
0‑L	1812	Ectodermal dysplasia-intellectual disability-central nervous system malformation syndrome	ORPHAnet
0‑L	1816	Leukomelanoderma-infantilism-intellectual disability-hypodontia-hypotrichosis syndrome	ORPHAnet
0‑L	1818	Ectodermal dysplasia, trichoodontoonychial type	ORPHAnet
0‑L	1822	Dysplasia epiphysealis hemimelica	ORPHAnet
0‑L	1824	Lowry-Wood syndrome	ORPHAnet
0‑L	1825	Epiphyseal dysplasia-hearing loss-dysmorphism syndrome	ORPHAnet
0‑L	1826	Frontometaphyseal dysplasia	ORPHAnet
0‑L	1827	Acromelic frontonasal dysplasia	ORPHAnet
0‑L	1830	Schimke immuno-osseous dysplasia	ORPHAnet
0‑L	1832	Lethal osteosclerotic bone dysplasia	ORPHAnet
0‑L	1834	Axial mesodermal dysplasia spectrum	ORPHAnet
0‑L	1836	Mesomelic dysplasia, Kantaputra type	ORPHAnet
0‑L	1837	Ulna metaphyseal dysplasia syndrome	ORPHAnet
0‑L	1839	Hereditary mucoepithelial dysplasia	ORPHAnet
0‑L	1842	Bone dysplasia, lethal Holmgren type	ORPHAnet
0‑L	1848	Renal agenesis, bilateral	ORPHAnet
0‑L	1851	Multicystic dysplastic kidney	ORPHAnet
0‑L	1852	X-linked retinal dysplasia	ORPHAnet
0‑L	1855	Spondyloenchondrodysplasia	ORPHAnet
0‑L	1856	Spondyloperipheral dysplasia-short ulna syndrome	ORPHAnet
0‑L	1858	Skeletal dysplasia-epilepsy-short stature syndrome	ORPHAnet
0‑L	1860	Thanatophoric dysplasia type 1	ORPHAnet
0‑L	1861	Thoracic dysplasia-hydrocephalus syndrome	ORPHAnet
0‑L	1865	Dyssegmental dysplasia, Silverman-Handmaker type	ORPHAnet
0‑L	1867	Hereditary bullous dystrophy, macular type	ORPHAnet
0‑L	1871	Progressive cone dystrophy	ORPHAnet
0‑L	1872	Cone rod dystrophy	ORPHAnet
0‑L	1873	Jalili syndrome	ORPHAnet
0‑L	1875	Congenital muscular dystrophy-infantile cataract-hypogonadism syndrome	ORPHAnet
0‑L	1876	Oculogastrointestinal muscular dystrophy	ORPHAnet
0‑L	1878	TRIM32-related limb-girdle muscular dystrophy R8	ORPHAnet
0‑L	1879	Melorheostosis with osteopoikilosis	ORPHAnet
0‑L	1880	Ebstein malformation of the tricuspid valve	ORPHAnet
0‑L	1882	Hypohidrotic ectodermal dysplasia-hypothyroidism-ciliary dyskinesia syndrome	ORPHAnet
0‑L	1883	Ectodermal dysplasia-sensorineural deafness syndrome	ORPHAnet
0‑L	1884	Ectopia lentis-chorioretinal dystrophy-myopia syndrome	ORPHAnet
0‑L	1885	Isolated ectopia lentis	ORPHAnet
0‑L	1891	Intellectual disability-spasticity-ectrodactyly syndrome	ORPHAnet
0‑L	1892	Ectrodactyly-polydactyly syndrome	ORPHAnet
0‑L	1895	Edinburgh malformation syndrome	ORPHAnet
0‑L	1896	EEC syndrome	ORPHAnet
0‑L	1897	EEM syndrome	ORPHAnet
0‑L	1899	Arthrochalasia Ehlers-Danlos syndrome	ORPHAnet
0‑L	1900	Kyphoscoliotic Ehlers-Danlos syndrome due to lysyl hydroxylase 1 deficiency	ORPHAnet
0‑L	1901	Dermatosparaxis Ehlers-Danlos syndrome	ORPHAnet
0‑L	1902	Ehrlichiosis	ORPHAnet
0‑L	1906	Fetal valproate spectrum disorder	ORPHAnet
0‑L	1908	Aminopterin/methotrexate embryofetopathy	ORPHAnet
0‑L	1909	Indomethacin embryofetopathy	ORPHAnet
0‑L	1910	Fetal iodine syndrome	ORPHAnet
0‑L	1911	Cocaine embryofetopathy	ORPHAnet
0‑L	1912	Fetal hydantoin syndrome	ORPHAnet
0‑L	1913	Fetal trimethadione syndrome	ORPHAnet
0‑L	1914	Vitamin K antagonist embryofetopathy	ORPHAnet
0‑L	1915	Fetal alcohol syndrome	ORPHAnet
0‑L	1916	Diethylstilbestrol syndrome	ORPHAnet
0‑L	1917	Fetal methylmercury syndrome	ORPHAnet
0‑L	1918	Fetal minoxidil syndrome	ORPHAnet
0‑L	1919	Phenobarbital embryopathy	ORPHAnet
0‑L	1920	Toluene embryopathy	ORPHAnet
0‑L	1923	Methimazole embryofetopathy	ORPHAnet
0‑L	1926	Diabetic embryopathy	ORPHAnet
0‑L	1927	Emery-Nelson syndrome	ORPHAnet
0‑L	1928	Congenital lobar emphysema	ORPHAnet
0‑L	1929	Rasmussen subacute encephalitis	ORPHAnet
0‑L	1930	Herpes simplex virus encephalitis	ORPHAnet
0‑L	1931	Frontal encephalocele	ORPHAnet
0‑L	1933	Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria	ORPHAnet
0‑L	1934	Early infantile epileptic encephalopathy	ORPHAnet
0‑L	1935	Early myoclonic encephalopathy	ORPHAnet
0‑L	1937	Eng-Strom syndrome	ORPHAnet
0‑L	1941	Juvenile absence epilepsy	ORPHAnet
0‑L	1942	Myoclonic-astatic epilepsy	ORPHAnet
0‑L	1943	Early-onset progressive encephalopathy with migrant continuous myoclonus	ORPHAnet
0‑L	1945	Rolandic epilepsy	ORPHAnet
0‑L	1946	Amelocerebrohypohidrotic syndrome	ORPHAnet
0‑L	1947	Progressive epilepsy-intellectual disability syndrome, Finnish type	ORPHAnet
0‑L	1948	Epilepsy-microcephaly-skeletal dysplasia syndrome	ORPHAnet
0‑L	1949	Benign familial neonatal epilepsy	ORPHAnet
0‑L	1951	Epilepsy-telangiectasia syndrome	ORPHAnet
0‑L	1952	Epiphyseal stippling-osteoclastic hyperplasia syndrome	ORPHAnet
0‑L	1954	Congenital lethal erythroderma	ORPHAnet
0‑L	1955	Spinocerebellar ataxia type 34	ORPHAnet
0‑L	1957	Esthesioneuroblastoma	ORPHAnet
0‑L	1959	Evans syndrome	ORPHAnet
0‑L	1962	Exostoses-anetodermia-brachydactyly type E syndrome	ORPHAnet
0‑L	1964	Extrasystoles-short stature-hyperpigmentation-microcephaly syndrome	ORPHAnet
0‑L	1968	Flat face-microstomia-ear anomaly syndrome	ORPHAnet
0‑L	1969	Facial dysmorphism-anorexia-cachexia-eye and skin anomalies syndrome	ORPHAnet
0‑L	1970	Facial dysmorphism-macrocephaly-myopia-Dandy-Walker malformation syndrome	ORPHAnet
0‑L	1972	Lethal faciocardiomelic dysplasia	ORPHAnet
0‑L	1973	Faciocardiorenal syndrome	ORPHAnet
0‑L	1974	Autosomal recessive faciodigitogenital syndrome	ORPHAnet
0‑L	1979	Lipodystrophy due to peptidic growth factors deficiency	ORPHAnet
0‑L	1980	Bilateral striopallidodentate calcinosis	ORPHAnet
0‑L	1986	Gollop-Wolfgang complex	ORPHAnet
0‑L	1987	Femoral agenesis/hypoplasia	ORPHAnet
0‑L	1988	Femoral-facial syndrome	ORPHAnet
0‑L	1993	Pai syndrome	ORPHAnet
0‑L	1995	Cleft lip-retinopathy syndrome	ORPHAnet
0‑L	1997	Blepharo-cheilo-odontic syndrome	ORPHAnet
0‑L	2001	Cleft lip/palate-intestinal malrotation-cardiopathy syndrome	ORPHAnet
0‑L	2003	Cleft lip/palate-deafness-sacral lipoma syndrome	ORPHAnet
0‑L	2004	Laryngotracheoesophageal cleft	ORPHAnet
0‑L	2006	Median cleft lip/mandibule	ORPHAnet
0‑L	2007	Alar cartilages hypoplasia-coloboma-telecanthus syndrome	ORPHAnet
0‑L	2008	Acrocardiofacial syndrome	ORPHAnet
0‑L	2010	Cleft palate-stapes fixation-oligodontia syndrome	ORPHAnet
0‑L	2013	Cleft palate-large ears-small head syndrome	ORPHAnet
0‑L	2015	Cleft palate-short stature-vertebral anomalies syndrome	ORPHAnet
0‑L	2016	Cleft palate-lateral synechia syndrome	ORPHAnet
0‑L	2017	Sternal cleft	ORPHAnet
0‑L	2019	Femur-fibula-ulna complex	ORPHAnet
0‑L	2020	Congenital fiber-type disproportion myopathy	ORPHAnet
0‑L	2021	Fibrochondrogenesis	ORPHAnet
0‑L	2022	Endocardial fibroelastosis	ORPHAnet
0‑L	2023	Undifferentiated pleomorphic sarcoma	ORPHAnet
0‑L	2024	Hereditary gingival fibromatosis	ORPHAnet
0‑L	2025	Gingival fibromatosis-facial dysmorphism syndrome	ORPHAnet
0‑L	2026	Gingival fibromatosis-hypertrichosis syndrome	ORPHAnet
0‑L	2027	Gingival fibromatosis-progressive deafness syndrome	ORPHAnet
0‑L	2028	Juvenile hyaline fibromatosis	ORPHAnet
0‑L	2030	Fibrosarcoma	ORPHAnet
0‑L	2031	Hepatic fibrosis-renal cysts-intellectual disability syndrome	ORPHAnet
0‑L	2032	Idiopathic pulmonary fibrosis	ORPHAnet
0‑L	2035	Lymphatic filariasis	ORPHAnet
0‑L	2036	Scalp-ear-nipple syndrome	ORPHAnet
0‑L	2037	Congenital aortopulmonary window	ORPHAnet
0‑L	2038	Pulmonary arteriovenous malformation	ORPHAnet
0‑L	2039	Congenital systemic arteriovenous fistula	ORPHAnet
0‑L	2040	Congenital respiratory-biliary fistula	ORPHAnet
0‑L	2041	Coronary arterial fistula	ORPHAnet
0‑L	2044	Floating-Harbor syndrome	ORPHAnet
0‑L	2045	FLOTCH syndrome	ORPHAnet
0‑L	2047	Flynn-Aird syndrome	ORPHAnet
0‑L	2048	Foix-Chavany-Marie syndrome	ORPHAnet
0‑L	2050	Cole-Carpenter syndrome	ORPHAnet
0‑L	2052	Fraser syndrome	ORPHAnet
0‑L	2053	Freeman-Sheldon syndrome	ORPHAnet
0‑L	2056	Essential fructosuria	ORPHAnet
0‑L	2057	Blepharophimosis-ptosis-esotropia-syndactyly-short stature syndrome	ORPHAnet
0‑L	2058	Fryns-Smeets-Thiry syndrome	ORPHAnet
0‑L	2059	Fryns syndrome	ORPHAnet
0‑L	2062	Progressive non-infectious anterior vertebral fusion	ORPHAnet
0‑L	2063	Splenogonadal fusion-limb defects-micrognathia syndrome	ORPHAnet
0‑L	2064	Posterior fusion of lumbosacral vertebrae-blepharoptosis syndrome	ORPHAnet
0‑L	2065	Galloway-Mowat syndrome	ORPHAnet
0‑L	2066	Gamma-aminobutyric acid transaminase deficiency	ORPHAnet
0‑L	2067	GAPO syndrome	ORPHAnet
0‑L	2069	Gastrocutaneous syndrome	ORPHAnet
0‑L	2070	Eosinophilic gastroenteritis	ORPHAnet
0‑L	2072	Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome	ORPHAnet
0‑L	2073	Narcolepsy type 1	ORPHAnet
0‑L	2074	Gemignani syndrome	ORPHAnet
0‑L	2075	Genitopalatocardiac syndrome	ORPHAnet
0‑L	2077	German syndrome	ORPHAnet
0‑L	2078	Geroderma osteodysplastica	ORPHAnet
0‑L	2083	Prominent glabella-microcephaly-hypogenitalism syndrome	ORPHAnet
0‑L	2084	Glaucoma-ectopia lentis-microspherophakia-stiff joints-short stature syndrome	ORPHAnet
0‑L	2085	Glaucoma-sleep apnea syndrome	ORPHAnet
0‑L	2086	Optic pathway glioma	ORPHAnet
0‑L	2088	Fanconi-Bickel syndrome	ORPHAnet
0‑L	2089	Glycogen storage disease due to hepatic glycogen synthase deficiency	ORPHAnet
0‑L	2090	GMS syndrome	ORPHAnet
0‑L	2091	Multinodular goiter-cystic kidney-polydactyly syndrome	ORPHAnet
0‑L	2092	Focal dermal hypoplasia	ORPHAnet
0‑L	2095	Gorlin-Chaudhry-Moss syndrome	ORPHAnet
0‑L	2097	Grant syndrome	ORPHAnet
0‑L	2098	Acromesomelic dysplasia, Grebe type	ORPHAnet
0‑L	2101	Grubben-de Cock-Borghgraef syndrome	ORPHAnet
0‑L	2102	GTP cyclohydrolase I deficiency	ORPHAnet
0‑L	2104	Dysmorphism-pectus carinatum-joint laxity syndrome	ORPHAnet
0‑L	2107	Hall-Riggs syndrome	ORPHAnet
0‑L	2108	Hallermann-Streiff syndrome	ORPHAnet
0‑L	2109	Hallermann-Streiff-like syndrome	ORPHAnet
0‑L	2110	Hallux varus-preaxial polysyndactyly syndrome	ORPHAnet
0‑L	2111	Cystic hamartoma of lung and kidney	ORPHAnet
0‑L	2114	Hip dysplasia, Beukes type	ORPHAnet
0‑L	2115	Harrod syndrome	ORPHAnet
0‑L	2116	Hartnup disease	ORPHAnet
0‑L	2117	Hartsfield syndrome	ORPHAnet
0‑L	2118	Hawkinsinuria	ORPHAnet
0‑L	2119	HEC syndrome	ORPHAnet
0‑L	2122	Kaposiform hemangioendothelioma	ORPHAnet
0‑L	2123	Diffuse neonatal hemangiomatosis	ORPHAnet
0‑L	2126	Solitary fibrous tumor/hemangiopericytoma	ORPHAnet
0‑L	2128	Isolated hemihyperplasia	ORPHAnet
0‑L	2131	Alternating hemiplegia of childhood	ORPHAnet
0‑L	2132	Hemoglobin C disease	ORPHAnet
0‑L	2133	Hemoglobin E disease	ORPHAnet
0‑L	2134	Atypical hemolytic uremic syndrome	ORPHAnet
0‑L	2135	Hennekam-Beemer syndrome	ORPHAnet
0‑L	2136	Hennekam syndrome	ORPHAnet
0‑L	2137	Autoimmune hepatitis	ORPHAnet
0‑L	2138	46,XX ovotesticular disorder of sex development	ORPHAnet
0‑L	2139	Hernández-Aguirre Negrete syndrome	ORPHAnet
0‑L	2140	Congenital diaphragmatic hernia	ORPHAnet
0‑L	2141	Diaphragmatic defect-limb deficiency-skull defect syndrome	ORPHAnet
0‑L	2143	Donnai-Barrow syndrome	ORPHAnet
0‑L	2145	Craniosynostosis, Herrmann-Opitz type	ORPHAnet
0‑L	2148	Lissencephaly type 1 due to doublecortin gene mutation	ORPHAnet
0‑L	2149	Nodular neuronal heterotopia	ORPHAnet
0‑L	2150	Hirschsprung disease-type D brachydactyly syndrome	ORPHAnet
0‑L	2151	Hirschsprung disease-ganglioneuroblastoma syndrome	ORPHAnet
0‑L	2152	Mowat-Wilson syndrome	ORPHAnet
0‑L	2153	Hirschsprung disease-nail hypoplasia-dysmorphism syndrome	ORPHAnet
0‑L	2155	Hirschsprung disease-deafness-polydactyly syndrome	ORPHAnet
0‑L	2157	Histidinemia	ORPHAnet
0‑L	2158	Histidinuria-renal tubular defect syndrome	ORPHAnet
0‑L	2162	Holoprosencephaly	ORPHAnet
0‑L	2163	Holoprosencephaly-craniosynostosis syndrome	ORPHAnet
0‑L	2165	Holoprosencephaly-caudal dysgenesis syndrome	ORPHAnet
0‑L	2166	Holoprosencephaly-postaxial polydactyly syndrome	ORPHAnet
0‑L	2167	Holzgreve syndrome	ORPHAnet
0‑L	2169	Methylcobalamin deficiency type cblE	ORPHAnet
0‑L	2170	Methylcobalamin deficiency type cblG	ORPHAnet
0‑L	2172	Microcephaly-glomerulonephritis-marfanoid habitus syndrome	ORPHAnet
0‑L	2176	Infantile systemic hyalinosis	ORPHAnet
0‑L	2177	Hydranencephaly	ORPHAnet
0‑L	2180	Hydrocephalus-costovertebral dysplasia-Sprengel anomaly syndrome	ORPHAnet
0‑L	2181	Hydrocephaly-tall stature-joint laxity syndrome	ORPHAnet
0‑L	2182	Hydrocephalus with stenosis of the aqueduct of Sylvius	ORPHAnet
0‑L	2183	Hydrocephalus-obesity-hypogonadism syndrome	ORPHAnet
0‑L	2184	Hydrocephaly-low insertion umbilicus syndrome	ORPHAnet
0‑L	2185	Congenital hydrocephalus	ORPHAnet
0‑L	2186	Hydrocephalus-blue sclerae-nephropathy syndrome	ORPHAnet
0‑L	2189	Hydrolethalus	ORPHAnet
0‑L	2194	Anti-HLA hyperimmunization	ORPHAnet
0‑L	2195	Dicarboxylic aminoaciduria	ORPHAnet
0‑L	2196	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement	ORPHAnet
0‑L	2197	Idiopathic hypercalciuria	ORPHAnet
0‑L	2198	Palmoplantar keratoderma-esophageal carcinoma syndrome	ORPHAnet
0‑L	2199	Epidermolytic palmoplantar keratoderma	ORPHAnet
0‑L	2200	Focal palmoplantar and gingival keratoderma	ORPHAnet
0‑L	2201	Palmoplantar keratoderma-spastic paralysis syndrome	ORPHAnet
0‑L	2202	Palmoplantar keratoderma-deafness syndrome	ORPHAnet
0‑L	2203	Hyperlysinemia	ORPHAnet
0‑L	2204	Dysplastic cortical hyperostosis	ORPHAnet
0‑L	2206	Ankylosing vertebral hyperostosis with tylosis	ORPHAnet
0‑L	2209	Maternal phenylketonuria	ORPHAnet
0‑L	2211	Hypertelorism-hypospadias-polysyndactyly syndrome	ORPHAnet
0‑L	2213	Hypertelorism-microtia-facial clefting syndrome	ORPHAnet
0‑L	2215	Multiple pterygium-malignant hyperthermia syndrome	ORPHAnet
0‑L	2216	Maternal hyperthermia-induced birth defects	ORPHAnet
0‑L	2218	Cervical hypertrichosis-peripheral neuropathy syndrome	ORPHAnet
0‑L	2220	Hypertrichosis cubiti	ORPHAnet
0‑L	2221	Acquired hypertrichosis lanuginosa	ORPHAnet
0‑L	2222	Hypertrichosis lanuginosa congenita	ORPHAnet
0‑L	2224	Hypertryptophanemia	ORPHAnet
0‑L	2228	Hypodontia-dysplasia of nails syndrome	ORPHAnet
0‑L	2229	Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome	ORPHAnet
0‑L	2230	Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome	ORPHAnet
0‑L	2232	Primary hypergonadotropic hypogonadism-partial alopecia syndrome	ORPHAnet
0‑L	2233	Hypogonadism-mitral valve prolapse-intellectual disability syndrome	ORPHAnet
0‑L	2234	Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome	ORPHAnet
0‑L	2235	Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome	ORPHAnet
0‑L	2237	Hypoparathyroidism-sensorineural deafness-renal disease syndrome	ORPHAnet
0‑L	2238	Familial isolated hypoparathyroidism	ORPHAnet
0‑L	2239	Familial isolated hypoparathyroidism due to agenesis of parathyroid gland	ORPHAnet
0‑L	2241	Megacystis-microcolon-intestinal hypoperistalsis syndrome	ORPHAnet
0‑L	2246	Cerebellar hypoplasia-tapetoretinal degeneration syndrome	ORPHAnet
0‑L	2248	Hypoplastic left heart syndrome	ORPHAnet
0‑L	2249	Ulna hypoplasia-intellectual disability syndrome	ORPHAnet
0‑L	2250	Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome	ORPHAnet
0‑L	2251	Thumb deformity-alopecia-pigmentation anomaly syndrome	ORPHAnet
0‑L	2252	Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome	ORPHAnet
0‑L	2253	Foveal hypoplasia-presenile cataract syndrome	ORPHAnet
0‑L	2254	Pontocerebellar hypoplasia type 1	ORPHAnet
0‑L	2255	Pancreatic hypoplasia-diabetes-congenital heart disease syndrome	ORPHAnet
0‑L	2256	Fibulo-ulnar hypoplasia-renal anomalies syndrome	ORPHAnet
0‑L	2257	Primary pulmonary hypoplasia	ORPHAnet
0‑L	2260	Oligomeganephronia	ORPHAnet
0‑L	2261	Hypospadias-intellectual disability, Goldblatt type syndrome	ORPHAnet
0‑L	2266	Hypotrichosis-intellectual disability, Lopes type	ORPHAnet
0‑L	2268	ICF syndrome	ORPHAnet
0‑L	2269	Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome	ORPHAnet
0‑L	2271	Congenital ichthyosis-microcephalus-tetraplegia syndrome	ORPHAnet
0‑L	2272	Ichthyosis-oral and digital anomalies syndrome	ORPHAnet
0‑L	2273	Ichthyosis follicularis-alopecia-photophobia syndrome	ORPHAnet
0‑L	2274	Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome	ORPHAnet
0‑L	2278	Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome	ORPHAnet
0‑L	2282	Dysmorphism-short stature-deafness-disorder of sex development syndrome	ORPHAnet
0‑L	2285	Primary basilar invagination	ORPHAnet
0‑L	2287	Fused mandibular incisors	ORPHAnet
0‑L	2289	Neuronal intranuclear inclusion disease	ORPHAnet
0‑L	2290	Microvillus inclusion disease	ORPHAnet
0‑L	2291	Congenital velopharyngeal incompetence	ORPHAnet
0‑L	2292	Congenital bowing of long bones	ORPHAnet
0‑L	2295	Familial articular hypermobility syndrome	ORPHAnet
0‑L	2297	Insulin-resistance syndrome type A	ORPHAnet
0‑L	2298	Insulin-resistance syndrome type B	ORPHAnet
0‑L	2299	Aortic arch interruption	ORPHAnet
0‑L	2300	Multiple intestinal atresia	ORPHAnet
0‑L	2301	Congenital short bowel syndrome	ORPHAnet
0‑L	2302	Asbestos intoxication	ORPHAnet
0‑L	2305	Isotretinoin syndrome	ORPHAnet
0‑L	2306	Isotretinoin-like syndrome	ORPHAnet
0‑L	2307	IVIC syndrome	ORPHAnet
0‑L	2308	Jacobsen syndrome	ORPHAnet
0‑L	2309	Pachyonychia congenita	ORPHAnet
0‑L	2310	Absence deformity of leg-cataract syndrome	ORPHAnet
0‑L	2311	Autosomal recessive spondylocostal dysostosis	ORPHAnet
0‑L	2312	Transient familial neonatal hyperbilirubinemia	ORPHAnet
0‑L	2314	Autosomal dominant hyper-IgE syndrome	ORPHAnet
0‑L	2315	Johanson-Blizzard syndrome	ORPHAnet
0‑L	2316	Johnson neuroectodermal syndrome	ORPHAnet
0‑L	2318	Joubert syndrome with oculorenal defect	ORPHAnet
0‑L	2319	Juberg-Hayward syndrome	ORPHAnet
0‑L	2321	Jung syndrome	ORPHAnet
0‑L	2322	Kabuki syndrome	ORPHAnet
0‑L	2323	Sanjad-Sakati syndrome	ORPHAnet
0‑L	2324	Osteopenia-intellectual disability-sparse hair syndrome	ORPHAnet
0‑L	2325	Epidermolysis bullosa simplex with anodontia/hypodontia	ORPHAnet
0‑L	2326	Kallmann syndrome-heart disease syndrome	ORPHAnet
0‑L	2328	Kapur-Toriello syndrome	ORPHAnet
0‑L	2329	Karsch-Neugebauer syndrome	ORPHAnet
0‑L	2330	Kasabach-Merritt syndrome	ORPHAnet
0‑L	2331	Kawasaki disease	ORPHAnet
0‑L	2332	KBG syndrome	ORPHAnet
0‑L	2333	Kenny-Caffey syndrome	ORPHAnet
0‑L	2334	Autosomal dominant keratitis	ORPHAnet
0‑L	2337	Non-epidermolytic palmoplantar keratoderma	ORPHAnet
0‑L	2339	Keratosis follicularis-dwarfism-cerebral atrophy syndrome	ORPHAnet
0‑L	2340	Keratosis follicularis spinulosa decalvans	ORPHAnet
0‑L	2342	Haim-Munk syndrome	ORPHAnet
0‑L	2345	Isolated Klippel-Feil syndrome	ORPHAnet
0‑L	2347	Lethal Kniest-like dysplasia	ORPHAnet
0‑L	2348	Familial partial lipodystrophy, Dunnigan type	ORPHAnet
0‑L	2349	Muscular pseudohypertrophy-hypothyroidism syndrome	ORPHAnet
0‑L	2351	Kousseff syndrome	ORPHAnet
0‑L	2353	Schilbach-Rott syndrome	ORPHAnet
0‑L	2356	Arachnoid cyst	ORPHAnet
0‑L	2357	Bronchogenic cyst	ORPHAnet
0‑L	2363	Lacrimoauriculodentodigital syndrome	ORPHAnet
0‑L	2364	Glycogen storage disease due to lactate dehydrogenase deficiency	ORPHAnet
0‑L	2368	Gastroschisis	ORPHAnet
0‑L	2369	Limb body wall complex	ORPHAnet
0‑L	2370	Larsen-like osseous dysplasia-short stature syndrome	ORPHAnet
0‑L	2371	Lethal Larsen-like syndrome	ORPHAnet
0‑L	2372	Laryngocele	ORPHAnet
0‑L	2373	Congenital laryngomalacia	ORPHAnet
0‑L	2374	Congenital laryngeal web	ORPHAnet
0‑L	2375	Laryngeal abductor paralysis-intellectual disability syndrome	ORPHAnet
0‑L	2377	Laurence-Moon syndrome	ORPHAnet
0‑L	2378	Laurin-Sandrow syndrome	ORPHAnet
0‑L	2379	Early-onset parkinsonism-intellectual disability syndrome	ORPHAnet
0‑L	2380	Legg-Calvé-Perthes disease	ORPHAnet
0‑L	2382	Lennox-Gastaut syndrome	ORPHAnet
0‑L	2386	Leukoencephalopathy-palmoplantar keratoderma syndrome	ORPHAnet
0‑L	2387	Leukonychia totalis	ORPHAnet
0‑L	2388	Choreoacanthocytosis	ORPHAnet
0‑L	2390	Lichtenstein syndrome	ORPHAnet
0‑L	2391	Congenitally short costocoracoid ligament	ORPHAnet
0‑L	2394	Pyruvate dehydrogenase E3 deficiency	ORPHAnet
0‑L	2396	Encephalocraniocutaneous lipomatosis	ORPHAnet
0‑L	2398	Multiple symmetric lipomatosis	ORPHAnet
0‑L	2399	Nasopalpebral lipoma-coloboma syndrome	ORPHAnet
0‑L	2400	Peripheral motor neuropathy-dysautonomia syndrome	ORPHAnet
0‑L	2404	Loiasis	ORPHAnet
0‑L	2405	Thickened earlobes-conductive deafness syndrome	ORPHAnet
0‑L	2406	Locked-in syndrome	ORPHAnet
0‑L	2407	Laryngo-onycho-cutaneous syndrome	ORPHAnet
0‑L	2408	Lowe-Kohn-Cohen syndrome	ORPHAnet
0‑L	2409	Lowry-MacLean syndrome	ORPHAnet
0‑L	2410	Hypergonadotropic hypogonadism-cataract syndrome	ORPHAnet
0‑L	2412	Dislocation of the hip-dysmorphism syndrome	ORPHAnet
0‑L	2414	Congenital pulmonary lymphangiectasia	ORPHAnet
0‑L	2420	Primary pulmonary lymphoma	ORPHAnet
0‑L	2427	Macrocephaly-short stature-paraplegia syndrome	ORPHAnet
0‑L	2429	Macrocephaly-spastic paraplegia-dysmorphism syndrome	ORPHAnet
0‑L	2430	Congenital macroglossia	ORPHAnet
0‑L	2432	Macrosomia-microphthalmia-cleft palate syndrome	ORPHAnet
0‑L	2435	Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome	ORPHAnet
0‑L	2437	Czeizel-Losonci syndrome	ORPHAnet
0‑L	2438	Hand-foot-genital syndrome	ORPHAnet
0‑L	2439	Patterson-Stevenson-Fontaine syndrome	ORPHAnet
0‑L	2440	Isolated split hand-split foot malformation	ORPHAnet
0‑L	2444	Congenital pulmonary airway malformation	ORPHAnet
0‑L	2451	Mucocutaneous venous malformations	ORPHAnet
0‑L	2456	Familial supernumerary nipples	ORPHAnet
0‑L	2457	Mandibuloacral dysplasia	ORPHAnet
0‑L	2459	Mansonelliasis	ORPHAnet
0‑L	2460	Van den Ende-Gupta syndrome	ORPHAnet
0‑L	2461	Marden-Walker syndrome	ORPHAnet
0‑L	2462	Shprintzen-Goldberg syndrome	ORPHAnet
0‑L	2463	Marfanoid habitus-autosomal recessive intellectual disability syndrome	ORPHAnet
0‑L	2464	Marfanoid syndrome, De Silva type	ORPHAnet
0‑L	2466	MASA syndrome	ORPHAnet
0‑L	2470	Matthew-Wood syndrome	ORPHAnet
0‑L	2471	McDonough syndrome	ORPHAnet
0‑L	2473	McKusick-Kaufman syndrome	ORPHAnet
0‑L	2475	White forelock with malformations	ORPHAnet
0‑L	2476	Dysraphism-cleft lip/palate-limb reduction defects syndrome	ORPHAnet
0‑L	2477	Megalencephaly	ORPHAnet
0‑L	2478	Megalencephalic leukoencephalopathy with subcortical cysts	ORPHAnet
0‑L	2479	Megalocornea-intellectual disability syndrome	ORPHAnet
0‑L	2481	Neurocutaneous melanocytosis	ORPHAnet
0‑L	2482	Melhem-Fahl syndrome	ORPHAnet
0‑L	2483	Melkersson-Rosenthal syndrome	ORPHAnet
0‑L	2484	Melnick-Needles syndrome	ORPHAnet
0‑L	2485	Melorheostosis	ORPHAnet
0‑L	2487	Lower limb malformation-hypospadias syndrome	ORPHAnet
0‑L	2489	Upper limb defect-eye and ear abnormalities syndrome	ORPHAnet
0‑L	2491	Müllerian duct anomalies-limb anomalies syndrome	ORPHAnet
0‑L	2492	FATCO syndrome	ORPHAnet
0‑L	2494	Ménétrier disease	ORPHAnet
0‑L	2495	Meningioma	ORPHAnet
0‑L	2496	Mesomelia-synostoses syndrome	ORPHAnet
0‑L	2497	Upper limb mesomelic dysplasia	ORPHAnet
0‑L	2498	Syndactyly type 8	ORPHAnet
0‑L	2499	Metachondromatosis	ORPHAnet
0‑L	2500	Acrogeria	ORPHAnet
0‑L	2501	Metaphyseal chondrodysplasia, Spahr type	ORPHAnet
0‑L	2502	Metaphyseal dysostosis-intellectual disability-conductive deafness syndrome	ORPHAnet
0‑L	2504	Metaphyseal dysplasia-maxillary hypoplasia-brachydacty syndrome	ORPHAnet
0‑L	2505	Multiple benign circumferential skin creases on limbs	ORPHAnet
0‑L	2508	Corpus callosum agenesis-abnormal genitalia syndrome	ORPHAnet
0‑L	2510	Micro syndrome	ORPHAnet
0‑L	2511	Microbrachycephaly-ptosis-cleft lip syndrome	ORPHAnet
0‑L	2512	Autosomal recessive primary microcephaly	ORPHAnet
0‑L	2513	Microcephaly-albinism-digital anomalies syndrome	ORPHAnet
0‑L	2514	Autosomal dominant primary microcephaly	ORPHAnet
0‑L	2515	Microcephaly-cardiomyopathy syndrome	ORPHAnet
0‑L	2516	Microcephaly-cardiac defect-lung malsegmentation syndrome	ORPHAnet
0‑L	2518	Autosomal recessive chorioretinopathy-microcephaly syndrome	ORPHAnet
0‑L	2519	Microcephaly-seizures-intellectual disability-heart disease syndrome	ORPHAnet
0‑L	2521	Microcephaly-cleft palate-abnormal retinal pigmentation syndrome	ORPHAnet
0‑L	2522	Microcephaly-cervical spine fusion anomalies syndrome	ORPHAnet
0‑L	2523	Microcephaly-brain defect-spasticity-hypernatremia syndrome	ORPHAnet
0‑L	2524	Pontocerebellar hypoplasia type 2	ORPHAnet
0‑L	2526	Microcephaly-lymphedema-chorioretinopathy syndrome	ORPHAnet
0‑L	2528	Microcephaly-microcornea syndrome, Seemanova type	ORPHAnet
0‑L	2533	Microcephaly-deafness-intellectual disability syndrome	ORPHAnet
0‑L	2536	Microcornea-glaucoma-absent frontal sinuses syndrome	ORPHAnet
0‑L	2538	Microgastria-limb reduction defect syndrome	ORPHAnet
0‑L	2547	Microphthalmia-microtia-fetal akinesia syndrome	ORPHAnet
0‑L	2549	Oculoauriculovertebral spectrum with radial defects	ORPHAnet
0‑L	2551	Microspherophakia-metaphyseal dysplasia syndrome	ORPHAnet
0‑L	2552	Microsporidiosis	ORPHAnet
0‑L	2554	Ear-patella-short stature syndrome	ORPHAnet
0‑L	2556	Microphthalmia with linear skin defects syndrome	ORPHAnet
0‑L	2557	Mietens syndrome	ORPHAnet
0‑L	2558	Mikati-Najjar-Sahli syndrome	ORPHAnet
0‑L	2560	Moebius syndrome-axonal neuropathy-hypogonadotropic hypogonadism syndrome	ORPHAnet
0‑L	2561	Pyramidal molars-abnormal upper lip syndrome	ORPHAnet
0‑L	2563	MOMO syndrome	ORPHAnet
0‑L	2564	Tetramelic monodactyly	ORPHAnet
0‑L	2565	Mononen-Karnes-Senac syndrome	ORPHAnet
0‑L	2566	Chronic Epstein-Barr virus infection syndrome	ORPHAnet
0‑L	2570	Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome	ORPHAnet
0‑L	2571	X-linked immunoneurologic disorder	ORPHAnet
0‑L	2572	Spastic ataxia-corneal dystrophy syndrome	ORPHAnet
0‑L	2573	Moyamoya disease	ORPHAnet
0‑L	2574	Moynahan syndrome	ORPHAnet
0‑L	2575	Cystic fibrosis-gastritis-megaloblastic anemia syndrome	ORPHAnet
0‑L	2576	Mulibrey nanism	ORPHAnet
0‑L	2578	Mayer-Rokitansky-Küster-Hauser syndrome type 2	ORPHAnet
0‑L	2579	Muscular atrophy-ataxia-retinitis pigmentosa-diabetes mellitus syndrome	ORPHAnet
0‑L	2582	Myalgia-eosinophilia syndrome associated with tryptophan	ORPHAnet
0‑L	2583	Mycetoma	ORPHAnet
0‑L	2584	Classic mycosis fungoides	ORPHAnet
0‑L	2585	Ataxia-pancytopenia syndrome	ORPHAnet
0‑L	2587	Myeloperoxidase deficiency	ORPHAnet
0‑L	2588	Myhre syndrome	ORPHAnet
0‑L	2589	Myoclonus-cerebellar ataxia-deafness syndrome	ORPHAnet
0‑L	2590	Spinal muscular atrophy-progressive myoclonic epilepsy syndrome	ORPHAnet
0‑L	2591	Infantile myofibromatosis	ORPHAnet
0‑L	2593	Tubular aggregate myopathy	ORPHAnet
0‑L	2596	Myopathy and diabetes mellitus	ORPHAnet
0‑L	2597	Mitochondrial myopathy-lactic acidosis-deafness syndrome	ORPHAnet
0‑L	2598	Mitochondrial myopathy and sideroblastic anemia	ORPHAnet
0‑L	2604	Familial visceral myopathy	ORPHAnet
0‑L	2608	N syndrome	ORPHAnet
0‑L	2609	Isolated complex I deficiency	ORPHAnet
0‑L	2611	Linear verrucous nevus syndrome	ORPHAnet
0‑L	2612	Linear nevus sebaceus syndrome	ORPHAnet
0‑L	2613	Nail-patella-like renal disease	ORPHAnet
0‑L	2614	Nail-patella syndrome	ORPHAnet
0‑L	2616	3M syndrome	ORPHAnet
0‑L	2617	Microcephalic primordial dwarfism, Montreal type	ORPHAnet
0‑L	2619	Brachydactylous dwarfism, Mseleni type	ORPHAnet
0‑L	2623	Geleophysic dysplasia	ORPHAnet
0‑L	2631	Mesomelic dwarfism-cleft palate-camptodactyly syndrome	ORPHAnet
0‑L	2632	Langer mesomelic dysplasia	ORPHAnet
0‑L	2633	Mesomelic dysplasia, Nievergelt type	ORPHAnet
0‑L	2634	Mesomelic dwarfism, Reinhardt-Pfeiffer type	ORPHAnet
0‑L	2635	Metatropic dysplasia	ORPHAnet
0‑L	2636	Microcephalic osteodysplastic primordial dwarfism types I and III	ORPHAnet
0‑L	2637	Microcephalic osteodysplastic primordial dwarfism type II	ORPHAnet
0‑L	2639	Fibular aplasia-complex brachydactyly syndrome	ORPHAnet
0‑L	2643	Microcephalic primordial dwarfism, Toriello type	ORPHAnet
0‑L	2645	Osteoglosphonic dysplasia	ORPHAnet
0‑L	2646	Parastremmatic dwarfism	ORPHAnet
0‑L	2653	Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome	ORPHAnet
0‑L	2655	Thanatophoric dysplasia	ORPHAnet
0‑L	2658	Lenz-Majewski hyperostotic dwarfism	ORPHAnet
0‑L	2662	Keipert syndrome	ORPHAnet
0‑L	2663	Nathalie syndrome	ORPHAnet
0‑L	2665	Congenital mesoblastic nephroma	ORPHAnet
0‑L	2666	Adult familial nephronophthisis-spastic quadriparesia syndrome	ORPHAnet
0‑L	2668	Nephropathy-deafness-hyperparathyroidism syndrome	ORPHAnet
0‑L	2669	Nephrosis-deafness-urinary tract-digital malformations syndrome	ORPHAnet
0‑L	2670	Pierson syndrome	ORPHAnet
0‑L	2671	Neu-Laxova syndrome	ORPHAnet
0‑L	2672	Neuhauser-Eichner-Opitz syndrome	ORPHAnet
0‑L	2673	Neurofaciodigitorenal syndrome	ORPHAnet
0‑L	2674	Cyprus facial-neuromusculoskeletal syndrome	ORPHAnet
0‑L	2678	Neurofibromatosis type 6	ORPHAnet
0‑L	2680	Hypomyelination neuropathy-arthrogryposis syndrome	ORPHAnet
0‑L	2686	Cyclic neutropenia	ORPHAnet
0‑L	2688	Adult idiopathic neutropenia	ORPHAnet
0‑L	2690	Neutropenia-monocytopenia-deafness syndrome	ORPHAnet
0‑L	2695	Bifid nose	ORPHAnet
0‑L	2697	Arthrogryposis-renal dysfunction-cholestasis syndrome	ORPHAnet
0‑L	2698	Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome	ORPHAnet
0‑L	2699	Median nodule of the upper lip	ORPHAnet
0‑L	2700	Noma	ORPHAnet
0‑L	2701	Noonan syndrome-like disorder with loose anagen hair	ORPHAnet
0‑L	2703	Port-wine nevi-mega cisterna magna-hydrocephalus syndrome	ORPHAnet
0‑L	2704	Ochoa syndrome	ORPHAnet
0‑L	2707	Oculocerebrofacial syndrome, Kaufman type	ORPHAnet
0‑L	2709	Oculodental syndrome, Rutherfurd type	ORPHAnet
0‑L	2710	Oculodentodigital dysplasia	ORPHAnet
0‑L	2712	Oculofaciocardiodental syndrome	ORPHAnet
0‑L	2713	Oculoosteocutaneous syndrome	ORPHAnet
0‑L	2714	Oculo-palato-cerebral syndrome	ORPHAnet
0‑L	2715	Severe oculo-renal-cerebellar syndrome	ORPHAnet
0‑L	2717	Oculotrichoanal syndrome	ORPHAnet
0‑L	2718	Oculotrichodysplasia	ORPHAnet
0‑L	2719	Oculocerebral hypopigmentation syndrome, Cross type	ORPHAnet
0‑L	2720	Oculocerebral hypopigmentation syndrome, Preus type	ORPHAnet
0‑L	2721	Odonto-onycho-dermal dysplasia	ORPHAnet
0‑L	2722	Odonto-onycho dysplasia-alopecia syndrome	ORPHAnet
0‑L	2723	Odontotrichomelic syndrome	ORPHAnet
0‑L	2724	Odontomatosis-aortae esophagus stenosis syndrome	ORPHAnet
0‑L	2725	Eye defects-arachnodactyly-cardiopathy syndrome	ORPHAnet
0‑L	2728	Blepharophimosis-intellectual disability syndrome, Ohdo type	ORPHAnet
0‑L	2729	Okamoto syndrome	ORPHAnet
0‑L	2730	Postaxial tetramelic oligodactyly	ORPHAnet
0‑L	2732	Olivopontocerebellar atrophy-deafness syndrome	ORPHAnet
0‑L	2733	Omodysplasia	ORPHAnet
0‑L	2736	Lethal omphalocele-cleft palate syndrome	ORPHAnet
0‑L	2737	Onchocerciasis	ORPHAnet
0‑L	2741	Ophthalmomandibulomelic dysplasia	ORPHAnet
0‑L	2743	Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome	ORPHAnet
0‑L	2744	Horizontal gaze palsy with progressive scoliosis	ORPHAnet
0‑L	2745	Opitz GBBB syndrome	ORPHAnet
0‑L	2746	Opsismodysplasia	ORPHAnet
0‑L	2750	Orofaciodigital syndrome type 1	ORPHAnet
0‑L	2751	Orofaciodigital syndrome type 2	ORPHAnet
0‑L	2752	Orofaciodigital syndrome type 3	ORPHAnet
0‑L	2753	Orofaciodigital syndrome type 4	ORPHAnet
0‑L	2754	Orofaciodigital syndrome type 6	ORPHAnet
0‑L	2755	Orofaciodigital syndrome type 8	ORPHAnet
0‑L	2756	Orofaciodigital syndrome type 10	ORPHAnet
0‑L	2759	Imperforate oropharynx-costovertebral anomalies syndrome	ORPHAnet
0‑L	2760	OSLAM syndrome	ORPHAnet
0‑L	2762	Progressive osseous heteroplasia	ORPHAnet
0‑L	2763	Osteocraniostenosis	ORPHAnet
0‑L	2764	Osteochondritis dissecans	ORPHAnet
0‑L	2767	Carpotarsal osteochondromatosis	ORPHAnet
0‑L	2768	Blount disease	ORPHAnet
0‑L	2769	Familial osteodysplasia, Anderson type	ORPHAnet
0‑L	2770	Nasu-Hakola disease	ORPHAnet
0‑L	2771	Bruck syndrome	ORPHAnet
0‑L	2772	Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome	ORPHAnet
0‑L	2773	Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome	ORPHAnet
0‑L	2774	Multicentric carpo-tarsal osteolysis with or without nephropathy	ORPHAnet
0‑L	2776	Autosomal recessive distal osteolysis syndrome	ORPHAnet
0‑L	2777	Osteomesopyknosis	ORPHAnet
0‑L	2779	Osteopathia striata-pigmentary dermopathy-white forelock syndrome	ORPHAnet
0‑L	2780	Osteopathia striata-cranial sclerosis syndrome	ORPHAnet
0‑L	2783	Autosomal dominant osteopetrosis type 1	ORPHAnet
0‑L	2785	Osteopetrosis with renal tubular acidosis	ORPHAnet
0‑L	2786	Osteoporosis-oculocutaneous hypopigmentation syndrome	ORPHAnet
0‑L	2787	Osteoporosis-macrocephaly-blindness-joint hyperlaxity syndrome	ORPHAnet
0‑L	2788	Osteoporosis-pseudoglioma syndrome	ORPHAnet
0‑L	2789	Lateral meningocele syndrome	ORPHAnet
0‑L	2790	Endosteal hyperostosis, Worth type	ORPHAnet
0‑L	2791	Otodental syndrome	ORPHAnet
0‑L	2792	Otofaciocervical syndrome	ORPHAnet
0‑L	2793	Otoonychoperoneal syndrome	ORPHAnet
0‑L	2795	Fowler urethral sphincter dysfunction syndrome	ORPHAnet
0‑L	2796	Pachydermoperiostosis	ORPHAnet
0‑L	2798	Pachygyria-intellectual disability-epilepsy syndrome	ORPHAnet
0‑L	2800	Extramammary Paget disease	ORPHAnet
0‑L	2801	Juvenile Paget disease	ORPHAnet
0‑L	2802	X-linked sideroblastic anemia and spinocerebellar ataxia	ORPHAnet
0‑L	2804	W syndrome	ORPHAnet
0‑L	2805	Partial pancreatic agenesis	ORPHAnet
0‑L	2806	Subacute sclerosing leukoencephalitis	ORPHAnet
0‑L	2807	Papilloma of choroid plexus	ORPHAnet
0‑L	2808	Laryngeal abductor paralysis	ORPHAnet
0‑L	2809	Familial recurrent peripheral facial palsy	ORPHAnet
0‑L	2812	Parana hard skin syndrome	ORPHAnet
0‑L	2815	Spastic paraparesis-deafness syndrome	ORPHAnet
0‑L	2818	Spastic paraplegia-glaucoma-intellectual disability syndrome	ORPHAnet
0‑L	2819	Spastic paraplegia-facial-cutaneous lesions syndrome	ORPHAnet
0‑L	2820	Spastic paraplegia-nephritis-deafness syndrome	ORPHAnet
0‑L	2821	Spastic paraplegia-neuropathy-poikiloderma syndrome	ORPHAnet
0‑L	2822	Autosomal recessive spastic paraplegia type 11	ORPHAnet
0‑L	2824	Paraplegia-intellectual disability-hyperkeratosis syndrome	ORPHAnet
0‑L	2825	PARC syndrome	ORPHAnet
0‑L	2826	Spastic paraplegia-precocious puberty syndrome	ORPHAnet
0‑L	2828	Young-onset Parkinson disease	ORPHAnet
0‑L	2831	Rhizomelic dysplasia, Patterson-Lowry type	ORPHAnet
0‑L	2832	Short tarsus-absence of lower eyelashes syndrome	ORPHAnet
0‑L	2833	Stiff skin syndrome	ORPHAnet
0‑L	2834	Wrinkly skin syndrome	ORPHAnet
0‑L	2835	Pectus excavatum-macrocephaly-dysplastic nails syndrome	ORPHAnet
0‑L	2836	PEHO syndrome	ORPHAnet
0‑L	2838	Renal caliceal diverticuli-deafness syndrome	ORPHAnet
0‑L	2839	Pelvis-shoulder dysplasia	ORPHAnet
0‑L	2840	Pelvic dysplasia-arthrogryposis of lower limbs syndrome	ORPHAnet
0‑L	2841	Familial benign chronic pemphigus	ORPHAnet
0‑L	2842	Penoscrotal transposition	ORPHAnet
0‑L	2843	Pentosuria	ORPHAnet
0‑L	2847	Pericardial and diaphragmatic defect	ORPHAnet
0‑L	2848	Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome	ORPHAnet
0‑L	2849	Perlman syndrome	ORPHAnet
0‑L	2850	Alopecia-intellectual disability syndrome	ORPHAnet
0‑L	2854	Fuhrmann syndrome	ORPHAnet
0‑L	2855	Perrault syndrome	ORPHAnet
0‑L	2856	Persistent Müllerian duct syndrome	ORPHAnet
0‑L	2863	Short stature-wormian bones-dextrocardia syndrome	ORPHAnet
0‑L	2865	Short stature-webbed neck-heart disease syndrome	ORPHAnet
0‑L	2866	Short stature-deafness-neutrophil dysfunction-dysmorphism syndrome	ORPHAnet
0‑L	2867	Short stature, Brussels type	ORPHAnet
0‑L	2868	Short stature-valvular heart disease-characteristic facies syndrome	ORPHAnet
0‑L	2869	Peutz-Jeghers syndrome	ORPHAnet
0‑L	2871	Pfeiffer-Palm-Teller syndrome	ORPHAnet
0‑L	2872	Cardiocranial syndrome, Pfeiffer type	ORPHAnet
0‑L	2874	Phakomatosis pigmentokeratotica	ORPHAnet
0‑L	2875	Phakomatosis pigmentovascularis	ORPHAnet
0‑L	2876	PHAVER syndrome	ORPHAnet
0‑L	2878	Phocomelia-ectrodactyly-deafness-sinus arrhythmia syndrome	ORPHAnet
0‑L	2879	Phocomelia, Schinzel type	ORPHAnet
0‑L	2880	Phosphoenolpyruvate carboxykinase deficiency	ORPHAnet
0‑L	2881	Cutaneous photosensitivity-lethal colitis syndrome	ORPHAnet
0‑L	2882	Sitosterolemia	ORPHAnet
0‑L	2884	Piebaldism	ORPHAnet
0‑L	2885	Piebald trait-neurologic defects syndrome	ORPHAnet
0‑L	2886	TARP syndrome	ORPHAnet
0‑L	2888	Pierre Robin syndrome-faciodigital anomaly syndrome	ORPHAnet
0‑L	2889	Pili torti	ORPHAnet
0‑L	2890	Pili torti-onychodysplasia syndrome	ORPHAnet
0‑L	2891	Pili torti-developmental delay-neurological abnormalities syndrome	ORPHAnet
0‑L	2892	Pilodental dysplasia-refractive errors syndrome	ORPHAnet
0‑L	2896	Pitt-Hopkins syndrome	ORPHAnet
0‑L	2897	Pityriasis rubra pilaris	ORPHAnet
0‑L	2898	X-linked intellectual disability-plagiocephaly syndrome	ORPHAnet
0‑L	2899	Brachyolmia-amelogenesis imperfecta syndrome	ORPHAnet
0‑L	2900	Leri pleonosteosis	ORPHAnet
0‑L	2901	Neuralgic amyotrophy	ORPHAnet
0‑L	2902	Idiopathic chronic eosinophilic pneumonia	ORPHAnet
0‑L	2903	Familial spontaneous pneumothorax	ORPHAnet
0‑L	2905	POEMS syndrome	ORPHAnet
0‑L	2907	Hereditary acrokeratotic poikiloderma	ORPHAnet
0‑L	2908	Kindler epidermolysis bullosa	ORPHAnet
0‑L	2909	Rothmund-Thomson syndrome	ORPHAnet
0‑L	2911	Poland syndrome	ORPHAnet
0‑L	2912	Poliomyelitis	ORPHAnet
0‑L	2916	Postaxial polydactyly-dental and vertebral anomalies syndrome	ORPHAnet
0‑L	2917	Polydactyly-myopia syndrome	ORPHAnet
0‑L	2919	Orofaciodigital syndrome type 5	ORPHAnet
0‑L	2920	Oliver syndrome	ORPHAnet
0‑L	2921	Preaxial polydactyly-colobomata-intellectual disability syndrome	ORPHAnet
0‑L	2924	Isolated polycystic liver disease	ORPHAnet
0‑L	2926	Digital extensor muscle aplasia-polyneuropathy	ORPHAnet
0‑L	2928	Polyneuropathy-intellectual disability-acromicria-premature menopause syndrome	ORPHAnet
0‑L	2929	Juvenile polyposis syndrome	ORPHAnet
0‑L	2930	Cronkhite-Canada syndrome	ORPHAnet
0‑L	2932	Chronic inflammatory demyelinating polyneuropathy	ORPHAnet
0‑L	2934	Polysyndactyly-cardiac malformation syndrome	ORPHAnet
0‑L	2935	Crossed polysyndactyly	ORPHAnet
0‑L	2940	Porencephaly	ORPHAnet
0‑L	2941	Porencephaly-cerebellar hypoplasia-internal malformations syndrome	ORPHAnet
0‑L	2942	Postpoliomyelitis syndrome	ORPHAnet
0‑L	2946	Brachydactyly-long thumb syndrome	ORPHAnet
0‑L	2947	Triphalangeal thumbs-brachyectrodactyly syndrome	ORPHAnet
0‑L	2951	Absent thumb-short stature-immunodeficiency syndrome	ORPHAnet
0‑L	2952	Adducted thumbs-arthrogryposis syndrome, Christian type	ORPHAnet
0‑L	2953	Musculocontractural Ehlers-Danlos syndrome	ORPHAnet
0‑L	2956	Acrodysplasia scoliosis	ORPHAnet
0‑L	2957	Guttmacher syndrome	ORPHAnet
0‑L	2958	X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome	ORPHAnet
0‑L	2959	Progeria-short stature-pigmented nevi syndrome	ORPHAnet
0‑L	2962	De Barsy syndrome	ORPHAnet
0‑L	2963	Progeroid syndrome, Petty type	ORPHAnet
0‑L	2964	Autosomal dominant prognathism	ORPHAnet
0‑L	2965	Prolactinoma	ORPHAnet
0‑L	2966	Properdin deficiency	ORPHAnet
0‑L	2967	Transcobalamin I deficiency	ORPHAnet
0‑L	2968	Leukocyte adhesion deficiency	ORPHAnet
0‑L	2969	Proteus-like syndrome	ORPHAnet
0‑L	2970	Prune belly syndrome	ORPHAnet
0‑L	2971	Peroxisomal acyl-CoA oxidase deficiency	ORPHAnet
0‑L	2972	Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome	ORPHAnet
0‑L	2973	46,XX disorder of sex development-anorectal anomalies syndrome	ORPHAnet
0‑L	2975	46,XX disorder of sex development-skeletal anomalies syndrome	ORPHAnet
0‑L	2976	Pseudoleprechaunism syndrome, Patterson type	ORPHAnet
0‑L	2978	Chronic intestinal pseudoobstruction	ORPHAnet
0‑L	2980	Acrootoocular syndrome	ORPHAnet
0‑L	2983	Disorder of sex development-intellectual disability syndrome	ORPHAnet
0‑L	2985	Pseudoprogeria syndrome	ORPHAnet
0‑L	2987	Antecubital pterygium syndrome	ORPHAnet
0‑L	2988	Pterygium colli-intellectual disability-digital anomalies syndrome	ORPHAnet
0‑L	2989	Familial pterygium of the conjunctiva	ORPHAnet
0‑L	2990	Autosomal recessive multiple pterygium syndrome	ORPHAnet
0‑L	2994	Short stature-craniofacial anomalies-genital hypoplasia syndrome	ORPHAnet
0‑L	2995	Baraitser-Winter cerebrofrontofacial syndrome	ORPHAnet
0‑L	2997	Ptosis-vocal cord paralysis syndrome	ORPHAnet
0‑L	2999	Ptosis-strabismus-ectopic pupils syndrome	ORPHAnet
0‑L	3000	Familial male-limited precocious puberty	ORPHAnet
0‑L	3002	Immune thrombocytopenia	ORPHAnet
0‑L	3003	Pyknoachondrogenesis	ORPHAnet
0‑L	3004	Mirror polydactyly-vertebral segmentation-limbs defects syndrome	ORPHAnet
0‑L	3005	Pyle disease	ORPHAnet
0‑L	3006	Pyridoxine-dependent epilepsy	ORPHAnet
0‑L	3008	Pyruvate carboxylase deficiency	ORPHAnet
0‑L	3010	Qazi-Markouizos syndrome	ORPHAnet
0‑L	3011	Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome	ORPHAnet
0‑L	3015	Radio-renal syndrome	ORPHAnet
0‑L	3016	Absent radius-anogenital anomalies syndrome	ORPHAnet
0‑L	3018	Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome	ORPHAnet
0‑L	3019	Ramon syndrome	ORPHAnet
0‑L	3020	Ramsay Hunt syndrome	ORPHAnet
0‑L	3021	RAPADILINO syndrome	ORPHAnet
0‑L	3023	External auditory canal atresia-vertical talus-hypertelorism syndrome	ORPHAnet
0‑L	3026	Radial ray hypoplasia-choanal atresia syndrome	ORPHAnet
0‑L	3027	Caudal regression syndrome	ORPHAnet
0‑L	3032	NPHP3-related Meckel-like syndrome	ORPHAnet
0‑L	3033	Renal tubular dysgenesis	ORPHAnet
0‑L	3034	Delayed membranous cranial ossification	ORPHAnet
0‑L	3035	Growth delay-hydrocephaly-lung hypoplasia syndrome	ORPHAnet
0‑L	3038	Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome	ORPHAnet
0‑L	3041	Intellectual disability-balding-patella luxation-acromicria syndrome	ORPHAnet
0‑L	3042	Intellectual disability-cataracts-calcified pinnae-myopathy syndrome	ORPHAnet
0‑L	3044	Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome	ORPHAnet
0‑L	3047	Blepharophimosis-intellectual disability syndrome, SBBYS type	ORPHAnet
0‑L	3051	Nicolaides-Baraitser syndrome	ORPHAnet
0‑L	3052	X-linked intellectual disability-seizures-psoriasis syndrome	ORPHAnet
0‑L	3055	X-linked intellectual disability-hypogonadism-ichthyosis-obesity-short stature syndrome	ORPHAnet
0‑L	3057	Monoamine oxidase A deficiency	ORPHAnet
0‑L	3063	X-linked intellectual disability, Snyder type	ORPHAnet
0‑L	3068	Intellectual disability-myopathy-short stature-endocrine defect syndrome	ORPHAnet
0‑L	3071	Costello syndrome	ORPHAnet
0‑L	3074	Intellectual disability-short stature-hypertelorism syndrome	ORPHAnet
0‑L	3077	X-linked intellectual disability-psychosis-macroorchidism syndrome	ORPHAnet
0‑L	3078	Severe X-linked intellectual disability, Gustavson type	ORPHAnet
0‑L	3079	Intellectual disability, Buenos-Aires type	ORPHAnet
0‑L	3080	Intellectual disability, Wolff type	ORPHAnet
0‑L	3082	Intellectual disability-polydactyly-uncombable hair syndrome	ORPHAnet
0‑L	3085	Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome	ORPHAnet
0‑L	3086	Autosomal dominant vitreoretinochoroidopathy	ORPHAnet
0‑L	3088	Revesz syndrome	ORPHAnet
0‑L	3092	Fixed subaortic stenosis	ORPHAnet
0‑L	3093	Congenital aortic valve stenosis	ORPHAnet
0‑L	3095	Atypical Rett syndrome	ORPHAnet
0‑L	3096	Reye syndrome	ORPHAnet
0‑L	3097	Meacham syndrome	ORPHAnet
0‑L	3098	Rhizomelic syndrome, Urbach type	ORPHAnet
0‑L	3099	Rheumatic fever	ORPHAnet
0‑L	3101	Richieri Costa-da Silva syndrome	ORPHAnet
0‑L	3102	Richieri Costa-Pereira syndrome	ORPHAnet
0‑L	3103	Roberts syndrome	ORPHAnet
0‑L	3104	Robin sequence-oligodactyly syndrome	ORPHAnet
0‑L	3107	Autosomal dominant Robinow syndrome	ORPHAnet
0‑L	3109	Mayer-Rokitansky-Küster-Hauser syndrome	ORPHAnet
0‑L	3110	Rombo syndrome	ORPHAnet
0‑L	3111	Rotor syndrome	ORPHAnet
0‑L	3115	Roussy-Lévy syndrome	ORPHAnet
0‑L	3121	Ruvalcaba syndrome	ORPHAnet
0‑L	3124	Saccharopinuria	ORPHAnet
0‑L	3129	Sarcosinemia	ORPHAnet
0‑L	3130	Satoyoshi syndrome	ORPHAnet
0‑L	3132	Say-Barber-Miller syndrome	ORPHAnet
0‑L	3134	SCARF syndrome	ORPHAnet
0‑L	3135	Familial Scheuermann disease	ORPHAnet
0‑L	3137	Alpha-N-acetylgalactosaminidase deficiency	ORPHAnet
0‑L	3138	Ulnar-mammary syndrome	ORPHAnet
0‑L	3143	Autoimmune polyendocrinopathy type 2	ORPHAnet
0‑L	3144	Schneckenbecken dysplasia	ORPHAnet
0‑L	3145	Nephrogenic diabetes insipidus-intracranial calcification-facial dysmorphism syndrome	ORPHAnet
0‑L	3148	Malignant peripheral nerve sheath tumor	ORPHAnet
0‑L	3151	Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome	ORPHAnet
0‑L	3152	Sclerosteosis	ORPHAnet
0‑L	3156	Senior-Loken syndrome	ORPHAnet
0‑L	3157	Septo-optic dysplasia spectrum	ORPHAnet
0‑L	3161	Congenital pulmonary sequestration	ORPHAnet
0‑L	3162	Sézary syndrome	ORPHAnet
0‑L	3163	SHORT syndrome	ORPHAnet
0‑L	3164	Omphalocele syndrome, Shprintzen-Goldberg type	ORPHAnet
0‑L	3165	Eosinophilic fasciitis	ORPHAnet
0‑L	3166	Sialuria	ORPHAnet
0‑L	3167	Siegler-Brewer-Carey syndrome	ORPHAnet
0‑L	3168	Sillence syndrome	ORPHAnet
0‑L	3169	Sirenomelia	ORPHAnet
0‑L	3172	Eyebrow duplication-syndactyly syndrome	ORPHAnet
0‑L	3173	Infantile spasms-broad thumbs syndrome	ORPHAnet
0‑L	3175	X-linked spasticity-intellectual disability-epilepsy syndrome	ORPHAnet
0‑L	3176	Spina bifida-hypospadias syndrome	ORPHAnet
0‑L	3177	Spinocerebellar degeneration-corneal dystrophy syndrome	ORPHAnet
0‑L	3180	Spondylocamptodactyly syndrome	ORPHAnet
0‑L	3181	Sprengel deformity	ORPHAnet
0‑L	3184	Steatocystoma multiplex-natal teeth syndrome	ORPHAnet
0‑L	3186	Holoprosencephaly-radial heart renal anomalies syndrome	ORPHAnet
0‑L	3188	Congenital pulmonary veins atresia or stenosis	ORPHAnet
0‑L	3189	Congenital pulmonary valvar stenosis	ORPHAnet
0‑L	3190	Subpulmonary stenosis	ORPHAnet
0‑L	3191	Subaortic stenosis-short stature syndrome	ORPHAnet
0‑L	3192	Supravalvular pulmonary stenosis	ORPHAnet
0‑L	3193	Supravalvular aortic stenosis	ORPHAnet
0‑L	3194	Corneodermatoosseous syndrome	ORPHAnet
0‑L	3196	Steroid dehydrogenase deficiency-dental anomalies syndrome	ORPHAnet
0‑L	3197	Hereditary hyperekplexia	ORPHAnet
0‑L	3198	Stiff person spectrum disorder	ORPHAnet
0‑L	3199	Stimmler syndrome	ORPHAnet
0‑L	3200	Arthrogryposis-ectodermal dysplasia syndrome	ORPHAnet
0‑L	3201	Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome	ORPHAnet
0‑L	3202	Dehydrated hereditary stomatocytosis	ORPHAnet
0‑L	3203	Overhydrated hereditary stomatocytosis	ORPHAnet
0‑L	3204	Stormorken-Sjaastad-Langslet syndrome	ORPHAnet
0‑L	3205	Sturge-Weber syndrome	ORPHAnet
0‑L	3206	Stüve-Wiedemann syndrome	ORPHAnet
0‑L	3207	White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome	ORPHAnet
0‑L	3208	Isolated succinate-CoQ reductase deficiency	ORPHAnet
0‑L	3210	Summitt syndrome	ORPHAnet
0‑L	3214	Deaf blind hypopigmentation syndrome, Yemenite type	ORPHAnet
0‑L	3216	Conductive deafness-malformed external ear syndrome	ORPHAnet
0‑L	3217	Deafness-small bowel diverticulosis-neuropathy syndrome	ORPHAnet
0‑L	3218	Deafness-epiphyseal dysplasia-short stature syndrome	ORPHAnet
0‑L	3219	Fountain syndrome	ORPHAnet
0‑L	3220	Deafness-enamel hypoplasia-nail defects syndrome	ORPHAnet
0‑L	3222	Phosphoribosylpyrophosphate synthetase superactivity	ORPHAnet
0‑L	3224	Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome	ORPHAnet
0‑L	3225	Hearing loss-familial salivary gland insensitivity to aldosterone syndrome	ORPHAnet
0‑L	3226	Deafness-lymphedema-leukemia syndrome	ORPHAnet
0‑L	3230	Deafness-oligodontia syndrome	ORPHAnet
0‑L	3232	Deafness-ear malformation-facial palsy syndrome	ORPHAnet
0‑L	3233	Cochleosaccular degeneration-cataract syndrome	ORPHAnet
0‑L	3235	Progressive deafness with stapes fixation	ORPHAnet
0‑L	3236	Conductive deafness-ptosis-skeletal anomalies syndrome	ORPHAnet
0‑L	3237	Multiple synostoses syndrome	ORPHAnet
0‑L	3238	Cardiospondylocarpofacial syndrome	ORPHAnet
0‑L	3239	Deafness-vitiligo-achalasia syndrome	ORPHAnet
0‑L	3240	Central nervous system calcification-deafness-tubular acidosis-anemia syndrome	ORPHAnet
0‑L	3241	Deafness-craniofacial syndrome	ORPHAnet
0‑L	3242	Renpenning syndrome	ORPHAnet
0‑L	3243	Sweet syndrome	ORPHAnet
0‑L	3246	Symphalangism with multiple anomalies of hands and feet	ORPHAnet
0‑L	3248	Distal symphalangism	ORPHAnet
0‑L	3250	Proximal symphalangism	ORPHAnet
0‑L	3253	Cleft lip/palate-ectodermal dysplasia syndrome	ORPHAnet
0‑L	3255	Filippi syndrome	ORPHAnet
0‑L	3258	Cenani-Lenz syndrome	ORPHAnet
0‑L	3259	Syndactyly-polydactyly-ear lobe syndrome	ORPHAnet
0‑L	3260	Idiopathic hypereosinophilic syndrome	ORPHAnet
0‑L	3261	Autoimmune lymphoproliferative syndrome	ORPHAnet
0‑L	3262	Dobrow syndrome	ORPHAnet
0‑L	3263	Syngnathia-cleft palate syndrome	ORPHAnet
0‑L	3265	Humero-radial synostosis	ORPHAnet
0‑L	3266	Humero-radio-ulnar synostosis	ORPHAnet
0‑L	3268	Radioulnar synostosis-microcephaly-scoliosis syndrome	ORPHAnet
0‑L	3269	Congenital radioulnar synostosis	ORPHAnet
0‑L	3270	Radioulnar synostosis-developmental delay-hypotonia syndrome	ORPHAnet
0‑L	3273	Synovial sarcoma	ORPHAnet
0‑L	3275	Spondylocarpotarsal synostosis	ORPHAnet
0‑L	3282	Multifocal atrial tachycardia	ORPHAnet
0‑L	3283	His bundle tachycardia	ORPHAnet
0‑L	3286	Catecholaminergic polymorphic ventricular tachycardia	ORPHAnet
0‑L	3287	Takayasu arteritis	ORPHAnet
0‑L	3291	Teebi-Shaltout syndrome	ORPHAnet
0‑L	3292	Tel Hashomer camptodactyly syndrome	ORPHAnet
0‑L	3293	Telecanthus-hypertelorism-strabismus-pes cavus syndrome	ORPHAnet
0‑L	3294	Extensor tendons of finger anomalies	ORPHAnet
0‑L	3299	Tetanus	ORPHAnet
0‑L	3301	Tetraamelia-multiple malformations syndrome	ORPHAnet
0‑L	3303	Tetralogy of Fallot	ORPHAnet
0‑L	3304	Fallot complex-intellectual disability-growth delay syndrome	ORPHAnet
0‑L	3305	Tetraploidy	ORPHAnet
0‑L	3306	Inverted duplicated chromosome 15 syndrome	ORPHAnet
0‑L	3307	Tetrasomy 18p	ORPHAnet
0‑L	3309	Tetrasomy 5p	ORPHAnet
0‑L	3310	Tetrasomy 9p	ORPHAnet
0‑L	3312	Thalidomide embryopathy	ORPHAnet
0‑L	3314	Thiemann disease, familial form	ORPHAnet
0‑L	3316	Thomas syndrome	ORPHAnet
0‑L	3317	Thoracolaryngopelvic dysplasia	ORPHAnet
0‑L	3318	Essential thrombocythemia	ORPHAnet
0‑L	3319	Congenital amegakaryocytic thrombocytopenia	ORPHAnet
0‑L	3320	Thrombocytopenia-absent radius syndrome	ORPHAnet
0‑L	3322	Hoyeraal-Hreidarsson syndrome	ORPHAnet
0‑L	3324	Familial thrombomodulin anomalies	ORPHAnet
0‑L	3325	Heparin-induced thrombocytopenia	ORPHAnet
0‑L	3326	Thymic-renal-anal-lung dysplasia	ORPHAnet
0‑L	3327	Thyrocerebrorenal syndrome	ORPHAnet
0‑L	3328	Absent tibia-polydactyly-arachnoid cyst syndrome	ORPHAnet
0‑L	3329	Tibial aplasia-ectrodactyly syndrome	ORPHAnet
0‑L	3337	Primary Fanconi renotubular syndrome	ORPHAnet
0‑L	3338	Toriello-Carey syndrome	ORPHAnet
0‑L	3339	Toriello-Lacassie-Droste syndrome	ORPHAnet
0‑L	3341	Torticollis-keloids-cryptorchidism-renal dysplasia syndrome	ORPHAnet
0‑L	3342	Arterial tortuosity syndrome	ORPHAnet
0‑L	3343	Toxocariasis	ORPHAnet
0‑L	3344	Weismann-Netter syndrome	ORPHAnet
0‑L	3346	Tracheal agenesis	ORPHAnet
0‑L	3347	Mounier-Kühn syndrome	ORPHAnet
0‑L	3348	Tracheobronchopathia osteochondroplastica	ORPHAnet
0‑L	3350	Tremor-nystagmus-duodenal ulcer syndrome	ORPHAnet
0‑L	3351	Trichodental syndrome	ORPHAnet
0‑L	3352	Tricho-dento-osseous syndrome	ORPHAnet
0‑L	3353	Trichodermodysplasia-dental alterations syndrome	ORPHAnet
0‑L	3355	Trichoodontoonychial dysplasia	ORPHAnet
0‑L	3361	Trichodysplasia-xeroderma syndrome	ORPHAnet
0‑L	3363	Trichomegaly-retina pigmentary degeneration-dwarfism syndrome	ORPHAnet
0‑L	3365	Trigonocephaly-broad thumbs syndrome	ORPHAnet
0‑L	3366	Non-syndromic metopic craniosynostosis	ORPHAnet
0‑L	3368	Trigonocephaly-bifid nose-acral anomalies syndrome	ORPHAnet
0‑L	3369	Trigonocephaly-short stature-developmental delay syndrome	ORPHAnet
0‑L	3374	Triopia	ORPHAnet
0‑L	3375	Trisomy X	ORPHAnet
0‑L	3376	Triploidy	ORPHAnet
0‑L	3377	Trismus-pseudocamptodactyly syndrome	ORPHAnet
0‑L	3378	Trisomy 13	ORPHAnet
0‑L	3379	Distal trisomy 17q	ORPHAnet
0‑L	3380	Trisomy 18	ORPHAnet
0‑L	3383	Humerus trochlea aplasia	ORPHAnet
0‑L	3384	Truncus arteriosus	ORPHAnet
0‑L	3385	African trypanosomiasis	ORPHAnet
0‑L	3386	American trypanosomiasis	ORPHAnet
0‑L	3387	Isolated anterior cervical hypertrichosis	ORPHAnet
0‑L	3389	Tuberculosis	ORPHAnet
0‑L	3392	Tularemia	ORPHAnet
0‑L	3400	Aorto-ventricular tunnel	ORPHAnet
0‑L	3402	Transient tyrosinemia of the newborn	ORPHAnet
0‑L	3403	Uhl anomaly	ORPHAnet
0‑L	3404	Ulbright-Hodes syndrome	ORPHAnet
0‑L	3405	Umbilical cord ulceration-intestinal atresia syndrome	ORPHAnet
0‑L	3406	Ulerythema ophryogenesis	ORPHAnet
0‑L	3408	Upington disease	ORPHAnet
0‑L	3409	Urban-Rogers-Meyer syndrome	ORPHAnet
0‑L	3411	Double uterus-hemivagina-renal agenesis syndrome	ORPHAnet
0‑L	3412	VACTERL with hydrocephalus	ORPHAnet
0‑L	3416	Hyperostosis corticalis generalisata	ORPHAnet
0‑L	3417	Van den Bosch syndrome	ORPHAnet
0‑L	3424	Velo-facial-skeletal syndrome	ORPHAnet
0‑L	3426	Double outlet right ventricle	ORPHAnet
0‑L	3427	Double outlet left ventricle	ORPHAnet
0‑L	3429	Verloove Vanhorick-Brubakk syndrome	ORPHAnet
0‑L	3433	Microcephaly-brachydactyly-kyphoscoliosis syndrome	ORPHAnet
0‑L	3434	MMEP syndrome	ORPHAnet
0‑L	3437	Vogt-Koyanagi-Harada disease	ORPHAnet
0‑L	3439	Von Voss-Cherstvoy syndrome	ORPHAnet
0‑L	3440	Waardenburg syndrome	ORPHAnet
0‑L	3447	Weaver syndrome	ORPHAnet
0‑L	3448	Weaver-Williams syndrome	ORPHAnet
0‑L	3449	Weill-Marchesani syndrome	ORPHAnet
0‑L	3451	Infantile spasms syndrome	ORPHAnet
0‑L	3452	Whipple disease	ORPHAnet
0‑L	3453	Autoimmune polyendocrinopathy type 1	ORPHAnet
0‑L	3454	Intellectual disability-developmental delay-contractures syndrome	ORPHAnet
0‑L	3455	Wiedemann-Rautenstrauch syndrome	ORPHAnet
0‑L	3456	Wildervanck syndrome	ORPHAnet
0‑L	3459	Wilson-Turner syndrome	ORPHAnet
0‑L	3463	Wolfram syndrome	ORPHAnet
0‑L	3464	Woodhouse-Sakati syndrome	ORPHAnet
0‑L	3465	Worster-Drought syndrome	ORPHAnet
0‑L	3466	WT limb-blood syndrome	ORPHAnet
0‑L	3467	Hereditary xanthinuria	ORPHAnet
0‑L	3469	XK aprosencephaly syndrome	ORPHAnet
0‑L	3471	Young syndrome	ORPHAnet
0‑L	3472	Yunis-Varon syndrome	ORPHAnet
0‑L	3473	Zimmermann-Laband syndrome	ORPHAnet
0‑L	3474	CHIME syndrome	ORPHAnet
0‑L	25968	Benign occipital epilepsy	ORPHAnet
0‑L	25980	X-linked myopathy with excessive autophagy	ORPHAnet
0‑L	26106	Hereditary diffuse gastric cancer	ORPHAnet
0‑L	26137	Juvenile temporal arteritis	ORPHAnet
0‑L	26348	Acquired prothrombin deficiency	ORPHAnet
0‑L	26349	Protein S acquired deficiency	ORPHAnet
0‑L	26790	Pseudomyxoma peritonei	ORPHAnet
0‑L	26791	Multiple acyl-CoA dehydrogenase deficiency	ORPHAnet
0‑L	26792	Short chain acyl-CoA dehydrogenase deficiency	ORPHAnet
0‑L	26793	Very long chain acyl-CoA dehydrogenase deficiency	ORPHAnet
0‑L	28378	Tyrosinemia type 2	ORPHAnet
0‑L	29072	Hereditary pheochromocytoma-paraganglioma	ORPHAnet
0‑L	29073	Multiple myeloma	ORPHAnet
0‑L	29207	Reactive arthritis	ORPHAnet
0‑L	29822	Spontaneous periodic hypothermia	ORPHAnet
0‑L	30391	Isolated biliary atresia	ORPHAnet
0‑L	30924	Primary hypomagnesemia with secondary hypocalcemia	ORPHAnet
0‑L	30925	Hereditary central diabetes insipidus	ORPHAnet
0‑L	31043	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement	ORPHAnet
0‑L	31112	Dermatofibrosarcoma protuberans	ORPHAnet
0‑L	31142	Oral erosive lichen	ORPHAnet
0‑L	31150	Tangier disease	ORPHAnet
0‑L	31202	Melioidosis	ORPHAnet
0‑L	31204	Nocardiosis	ORPHAnet
0‑L	31205	Rat-bite fever	ORPHAnet
0‑L	31709	Infantile convulsions and choreoathetosis	ORPHAnet
0‑L	31824	Colchicine poisoning	ORPHAnet
0‑L	31825	Methanol poisoning	ORPHAnet
0‑L	31826	Ethylene glycol poisoning	ORPHAnet
0‑L	31827	Paraquat poisoning	ORPHAnet
0‑L	31828	Digitalis poisoning	ORPHAnet
0‑L	31837	Pulmonary venoocclusive disease	ORPHAnet
0‑L	32960	Tumor necrosis factor receptor 1 associated periodic syndrome	ORPHAnet
0‑L	33001	Lymphedema-distichiasis syndrome	ORPHAnet
0‑L	33067	Metaphyseal chondrodysplasia, Jansen type	ORPHAnet
0‑L	33069	Dravet syndrome	ORPHAnet
0‑L	33108	Lethal multiple pterygium syndrome	ORPHAnet
0‑L	33110	Autosomal agammaglobulinemia	ORPHAnet
0‑L	33111	Granulomatous slack skin	ORPHAnet
0‑L	33208	Idiopathic hypersomnia	ORPHAnet
0‑L	33226	Waldenström macroglobulinemia	ORPHAnet
0‑L	33276	Kaposi sarcoma	ORPHAnet
0‑L	33314	Jessner lymphocytic infiltration of the skin	ORPHAnet
0‑L	33355	Reticular dysgenesis	ORPHAnet
0‑L	33364	Trichothiodystrophy	ORPHAnet
0‑L	33402	Pediatric hepatocellular carcinoma	ORPHAnet
0‑L	33408	Bullous lichen planus	ORPHAnet
0‑L	33445	Neuroectodermal melanolysosomal disease	ORPHAnet
0‑L	33475	Meningococcal meningitis	ORPHAnet
0‑L	33543	Kleine-Levin syndrome	ORPHAnet
0‑L	33572	5-oxoprolinase deficiency	ORPHAnet
0‑L	33573	Gamma-glutamyl transpeptidase deficiency	ORPHAnet
0‑L	33574	Glutamate-cysteine ligase deficiency	ORPHAnet
0‑L	33577	Nodular non-suppurative panniculitis	ORPHAnet
0‑L	34149	Autosomal dominant tubulointerstitial kidney disease	ORPHAnet
0‑L	34217	Naxos disease	ORPHAnet
0‑L	34514	Telethonin-related limb-girdle muscular dystrophy R7	ORPHAnet
0‑L	34515	FKRP-related limb-girdle muscular dystrophy R9	ORPHAnet
0‑L	34516	DNAJB6-related limb-girdle muscular dystrophy D1	ORPHAnet
0‑L	34520	Congenital muscular dystrophy with integrin alpha-7 deficiency	ORPHAnet
0‑L	34528	Autosomal dominant primary hypomagnesemia with hypocalciuria	ORPHAnet
0‑L	34587	Glycogen storage disease due to LAMP-2 deficiency	ORPHAnet
0‑L	34592	Immunodeficiency by defective expression of MHC class I	ORPHAnet
0‑L	35062	Severe disseminated cytomegalovirus infection in immunocompetent patients	ORPHAnet
0‑L	35063	Fulminant viral hepatitis	ORPHAnet
0‑L	35069	Infantile neuroaxonal dystrophy	ORPHAnet
0‑L	35078	T-B+ severe combined immunodeficiency due to JAK3 deficiency	ORPHAnet
0‑L	35093	Non-syndromic sagittal craniosynostosis	ORPHAnet
0‑L	35099	Non-syndromic bicoronal craniosynostosis	ORPHAnet
0‑L	35107	Desmosterolosis	ORPHAnet
0‑L	35120	Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency	ORPHAnet
0‑L	35121	Lysosomal acid phosphatase deficiency	ORPHAnet
0‑L	35122	Congenital sucrase-isomaltase deficiency	ORPHAnet
0‑L	35125	Epidermal nevus syndrome	ORPHAnet
0‑L	35173	X-linked dominant chondrodysplasia punctata	ORPHAnet
0‑L	35612	Nanophthalmos	ORPHAnet
0‑L	35664	ALDH18A1-related De Barsy syndrome	ORPHAnet
0‑L	35686	Serpiginous choroiditis	ORPHAnet
0‑L	35687	Erdheim-Chester disease	ORPHAnet
0‑L	35689	Primary lateral sclerosis	ORPHAnet
0‑L	35701	3-hydroxy-3-methylglutaryl-CoA synthase deficiency	ORPHAnet
0‑L	35704	L-Arginine:glycine amidinotransferase deficiency	ORPHAnet
0‑L	35706	Glutaric acidemia type 3	ORPHAnet
0‑L	35708	Aromatic L-amino acid decarboxylase deficiency	ORPHAnet
0‑L	35710	Glucose-galactose malabsorption	ORPHAnet
0‑L	35737	Morning glory disc anomaly	ORPHAnet
0‑L	35858	Imerslund-Gräsbeck syndrome	ORPHAnet
0‑L	35878	Hyperinsulinism-hyperammonemia syndrome	ORPHAnet
0‑L	35889	Acute opioid poisoning	ORPHAnet
0‑L	35909	Combined deficiency of factor V and factor VIII	ORPHAnet
0‑L	36234	Bacterial toxic-shock syndrome	ORPHAnet
0‑L	36235	Staphylococcal scarlet fever	ORPHAnet
0‑L	36236	Staphylococcal scalded skin syndrome	ORPHAnet
0‑L	36237	Bullous impetigo	ORPHAnet
0‑L	36238	Staphylococcal necrotizing pneumonia	ORPHAnet
0‑L	36258	Buerger disease	ORPHAnet
0‑L	36273	Gastric linitis plastica	ORPHAnet
0‑L	36355	Bleeding disorder due to P2Y12 defect	ORPHAnet
0‑L	36367	Distal monosomy 1q	ORPHAnet
0‑L	36382	Familial cervical artery dissection	ORPHAnet
0‑L	36383	COL4A1-related familial vascular leukoencephalopathy	ORPHAnet
0‑L	36386	Hereditary sensory and autonomic neuropathy type 1	ORPHAnet
0‑L	36387	Generalized epilepsy with febrile seizures-plus	ORPHAnet
0‑L	36397	Adiposis dolorosa	ORPHAnet
0‑L	36412	Hypocomplementemic urticarial vasculitis	ORPHAnet
0‑L	36426	Stevens-Johnson syndrome	ORPHAnet
0‑L	36899	Myoclonus-dystonia syndrome	ORPHAnet
0‑L	36913	Autoimmune hypoparathyroidism	ORPHAnet
0‑L	37042	Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome	ORPHAnet
0‑L	37202	Interstitial cystitis	ORPHAnet
0‑L	37553	Andersen-Tawil syndrome	ORPHAnet
0‑L	37559	Acquired kinky hair syndrome	ORPHAnet
0‑L	37612	Episodic ataxia type 1	ORPHAnet
0‑L	37748	Schnitzler syndrome	ORPHAnet
0‑L	38874	Dihydropyrimidinuria	ORPHAnet
0‑L	39041	Omenn syndrome	ORPHAnet
0‑L	39044	Uveal melanoma	ORPHAnet
0‑L	39812	Graft versus host disease	ORPHAnet
0‑L	40366	Acitretin/etretinate embryopathy	ORPHAnet
0‑L	40923	Eales disease	ORPHAnet
0‑L	41751	Bietti crystalline dystrophy	ORPHAnet
0‑L	42062	Iminoglycinuria	ORPHAnet
0‑L	42642	PFAPA syndrome	ORPHAnet
0‑L	42665	Tietz syndrome	ORPHAnet
0‑L	42775	PHACE syndrome	ORPHAnet
0‑L	43115	Hereditary myopathy with lactic acidosis due to ISCU deficiency	ORPHAnet
0‑L	43116	Serotonin syndrome	ORPHAnet
0‑L	43117	Acute tricyclic antidepressant poisoning	ORPHAnet
0‑L	43119	Acute poisoning by drugs with membrane-stabilizing effect	ORPHAnet
0‑L	43393	Lambert-Eaton myasthenic syndrome	ORPHAnet
0‑L	44890	Gastrointestinal stromal tumor	ORPHAnet
0‑L	45358	Congenital fibrosis of extraocular muscles	ORPHAnet
0‑L	45448	Miyoshi myopathy	ORPHAnet
0‑L	45452	Idiopathic neonatal atrial flutter	ORPHAnet
0‑L	45453	Incessant infant ventricular tachycardia	ORPHAnet
0‑L	46059	Lathosterolosis	ORPHAnet
0‑L	46135	Primary central nervous system lymphoma	ORPHAnet
0‑L	46348	Paroxysmal extreme pain disorder	ORPHAnet
0‑L	46486	Mucous membrane pemphigoid	ORPHAnet
0‑L	46487	Epidermolysis bullosa acquisita	ORPHAnet
0‑L	46488	Linear IgA dermatosis	ORPHAnet
0‑L	46532	Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome	ORPHAnet
0‑L	46627	Char syndrome	ORPHAnet
0‑L	46724	Cerebral arteriovenous malformation	ORPHAnet
0‑L	47044	Hereditary papillary renal cell carcinoma	ORPHAnet
0‑L	47045	Familial cold urticaria	ORPHAnet
0‑L	47159	Proximal renal tubular acidosis	ORPHAnet
0‑L	47612	Felty syndrome	ORPHAnet
0‑L	48104	Pyoderma gangrenosum	ORPHAnet
0‑L	48162	Lewis-Sumner syndrome	ORPHAnet
0‑L	48372	Nodular regenerative hyperplasia of the liver	ORPHAnet
0‑L	48377	Subcorneal pustular dermatosis	ORPHAnet
0‑L	48431	Congenital cataracts-facial dysmorphism-neuropathy syndrome	ORPHAnet
0‑L	48435	Postinfectious vasculitis	ORPHAnet
0‑L	48652	Monosomy 22q13.3	ORPHAnet
0‑L	48686	Primary effusion lymphoma	ORPHAnet
0‑L	48736	Embryonal carcinoma of the central nervous system	ORPHAnet
0‑L	48818	Aceruloplasminemia	ORPHAnet
0‑L	48918	Focal myositis	ORPHAnet
0‑L	49041	IgG4-related retroperitoneal fibrosis	ORPHAnet
0‑L	49042	Dentinogenesis imperfecta	ORPHAnet
0‑L	49382	Achromatopsia	ORPHAnet
0‑L	49566	Acquired purpura fulminans	ORPHAnet
0‑L	49804	Lichen amyloidosis	ORPHAnet
0‑L	49827	Thiamine-responsive megaloblastic anemia syndrome	ORPHAnet
0‑L	50251	Pleural mesothelioma	ORPHAnet
0‑L	50809	Talo-patello-scaphoid osteolysis	ORPHAnet
0‑L	50810	Microlissencephaly-micromelia syndrome	ORPHAnet
0‑L	50811	Lipodystrophy-intellectual disability-deafness syndrome	ORPHAnet
0‑L	50812	Zellweger-like syndrome without peroxisomal anomalies	ORPHAnet
0‑L	50814	Craniolenticulosutural dysplasia	ORPHAnet
0‑L	50815	Branchiogenic deafness syndrome	ORPHAnet
0‑L	50817	Duane anomaly-myopathy-scoliosis syndrome	ORPHAnet
0‑L	50839	Cat-scratch disease	ORPHAnet
0‑L	50918	Kikuchi-Fujimoto disease	ORPHAnet
0‑L	50942	Striate palmoplantar keratoderma	ORPHAnet
0‑L	50943	Keratolytic winter erythema	ORPHAnet
0‑L	50944	Schöpf-Schulz-Passarge syndrome	ORPHAnet
0‑L	50945	Blomstrand lethal chondrodysplasia	ORPHAnet
0‑L	51083	Familial short QT syndrome	ORPHAnet
0‑L	51084	Torsade-de-pointes syndrome with short coupling interval	ORPHAnet
0‑L	51188	Ethylmalonic encephalopathy	ORPHAnet
0‑L	51208	Formiminoglutamic aciduria	ORPHAnet
0‑L	51608	Generalized arterial calcification of infancy	ORPHAnet
0‑L	51636	WHIM syndrome	ORPHAnet
0‑L	51890	Anterior cutaneous nerve entrapment syndrome	ORPHAnet
0‑L	52022	Potocki-Shaffer syndrome	ORPHAnet
0‑L	52047	Braddock syndrome	ORPHAnet
0‑L	52054	Craniosynostosis-intracranial calcifications syndrome	ORPHAnet
0‑L	52055	Corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome	ORPHAnet
0‑L	52056	Ulnar/fibula ray defect-brachydactyly syndrome	ORPHAnet
0‑L	52368	Mohr-Tranebjaerg syndrome	ORPHAnet
0‑L	52416	Mantle cell lymphoma	ORPHAnet
0‑L	52417	MALT lymphoma	ORPHAnet
0‑L	52427	Retinitis punctata albescens	ORPHAnet
0‑L	52429	Branchiootic syndrome	ORPHAnet
0‑L	52430	Inclusion body myopathy with Paget disease of bone and frontotemporal dementia	ORPHAnet
0‑L	52503	X-linked creatine transporter deficiency	ORPHAnet
0‑L	52530	Pseudo-von Willebrand disease	ORPHAnet
0‑L	52901	Isolated follicle stimulating hormone deficiency	ORPHAnet
0‑L	52994	Orbital leiomyoma	ORPHAnet
0‑L	53035	Caroli disease	ORPHAnet
0‑L	53271	Muenke syndrome	ORPHAnet
0‑L	53296	Familial cutaneous collagenoma	ORPHAnet
0‑L	53347	Brody myopathy	ORPHAnet
0‑L	53351	X-linked dystonia-parkinsonism	ORPHAnet
0‑L	53372	Hereditary geniospasm	ORPHAnet
0‑L	53540	Goldmann-Favre syndrome	ORPHAnet
0‑L	53583	Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity	ORPHAnet
0‑L	53689	Congenital chloride diarrhea	ORPHAnet
0‑L	53690	Congenital lactase deficiency	ORPHAnet
0‑L	53691	Congenital cornea plana	ORPHAnet
0‑L	53693	GRACILE syndrome	ORPHAnet
0‑L	53696	Arthrogryposis-anterior horn cell disease syndrome	ORPHAnet
0‑L	53697	Gnathodiaphyseal dysplasia	ORPHAnet
0‑L	53698	Hyaline body myopathy	ORPHAnet
0‑L	53715	Familial tumoral calcinosis	ORPHAnet
0‑L	53719	Wyburn-Mason syndrome	ORPHAnet
0‑L	53721	Spinal arteriovenous metameric syndrome	ORPHAnet
0‑L	54028	Plummer-Vinson syndrome	ORPHAnet
0‑L	54057	Thrombotic thrombocytopenic purpura	ORPHAnet
0‑L	54247	Posterior cortical atrophy	ORPHAnet
0‑L	54251	Corticosteroid-sensitive aseptic abscess syndrome	ORPHAnet
0‑L	54260	Left ventricular noncompaction	ORPHAnet
0‑L	54272	Hepatocellular adenoma	ORPHAnet
0‑L	54368	Sarcocystosis	ORPHAnet
0‑L	54370	Primary membranoproliferative glomerulonephritis	ORPHAnet
0‑L	54595	Craniopharyngioma	ORPHAnet
0‑L	55595	TNP03-related limb-girdle muscular dystrophy D2	ORPHAnet
0‑L	55596	HNRNPDL-related limb-girdle muscular dystrophy D3	ORPHAnet
0‑L	55654	Hypotrichosis simplex	ORPHAnet
0‑L	55655	Pneumococcal meningitis	ORPHAnet
0‑L	55880	Chondrosarcoma	ORPHAnet
0‑L	55881	Adamantinoma	ORPHAnet
0‑L	56304	Atelosteogenesis type II	ORPHAnet
0‑L	56305	Atelosteogenesis type III	ORPHAnet
0‑L	56425	Cold agglutinin disease	ORPHAnet
0‑L	57145	SUNCT syndrome	ORPHAnet
0‑L	57196	Medial condensing osteitis of the clavicle	ORPHAnet
0‑L	57777	Cirrhotic cardiomyopathy	ORPHAnet
0‑L	57782	Mazabraud syndrome	ORPHAnet
0‑L	58017	Classic hairy cell leukemia	ORPHAnet
0‑L	58040	Osteoblastoma	ORPHAnet
0‑L	59135	Laing early-onset distal myopathy	ORPHAnet
0‑L	59181	Sorsby pseudoinflammatory fundus dystrophy	ORPHAnet
0‑L	59298	Schilder disease	ORPHAnet
0‑L	59303	Neonatal ichthyosis-sclerosing cholangitis syndrome	ORPHAnet
0‑L	59306	McLeod neuroacanthocytosis syndrome	ORPHAnet
0‑L	59315	Rhombencephalosynapsis	ORPHAnet
0‑L	60014	Argyria	ORPHAnet
0‑L	60015	Enlarged parietal foramina	ORPHAnet
0‑L	60025	Pulmonary alveolar microlithiasis	ORPHAnet
0‑L	60026	Pulmonary nodular lymphoid hyperplasia	ORPHAnet
0‑L	60030	Loeys-Dietz syndrome	ORPHAnet
0‑L	60032	Recurrent respiratory papillomatosis	ORPHAnet
0‑L	60033	Idiopathic bronchiectasis	ORPHAnet
0‑L	60039	Pudendal neuralgia	ORPHAnet
0‑L	60040	Megalencephaly-capillary malformation-polymicrogyria syndrome	ORPHAnet
0‑L	60041	Congenital heart block	ORPHAnet
0‑L	63259	Iniencephaly	ORPHAnet
0‑L	63260	Craniorachischisis	ORPHAnet
0‑L	63269	Antley-Bixler syndrome with genital anomaly and disorder of steroidogenesis	ORPHAnet
0‑L	63273	Distal myopathy with posterior leg and anterior hand involvement	ORPHAnet
0‑L	63275	Pemphigoid gestationis	ORPHAnet
0‑L	63442	Angel-shaped phalango-epiphyseal dysplasia	ORPHAnet
0‑L	63446	Acrocapitofemoral dysplasia	ORPHAnet
0‑L	63455	Paraneoplastic pemphigus	ORPHAnet
0‑L	63862	Schisis association	ORPHAnet
0‑L	63999	IgG4-related mediastinitis	ORPHAnet
0‑L	64280	Childhood absence epilepsy	ORPHAnet
0‑L	64542	Acrofacial dysostosis, Kennedy-Teebi type	ORPHAnet
0‑L	64545	Benign idiopathic neonatal seizures	ORPHAnet
0‑L	64686	Tolosa-Hunt syndrome	ORPHAnet
0‑L	64692	Oroya fever	ORPHAnet
0‑L	64694	Trench fever	ORPHAnet
0‑L	64720	Leiomyosarcoma	ORPHAnet
0‑L	64722	Granulomatous mastitis	ORPHAnet
0‑L	64734	Iridocorneal endothelial syndrome	ORPHAnet
0‑L	64739	Ovarian hyperstimulation syndrome	ORPHAnet
0‑L	64741	Pulmonary blastoma	ORPHAnet
0‑L	64742	Pleuropulmonary blastoma	ORPHAnet
0‑L	64743	Hepatoportal sclerosis	ORPHAnet
0‑L	64744	IgG4-related thyroid disease	ORPHAnet
0‑L	64745	Pruritic urticarial papules and plaques of pregnancy	ORPHAnet
0‑L	64748	Dejerine-Sottas syndrome	ORPHAnet
0‑L	64751	Hereditary motor and sensory neuropathy type 5	ORPHAnet
0‑L	64752	Hereditary sensory and autonomic neuropathy type 5	ORPHAnet
0‑L	64753	Spinocerebellar ataxia with axonal neuropathy type 2	ORPHAnet
0‑L	64754	Nevus comedonicus syndrome	ORPHAnet
0‑L	64755	Becker nevus syndrome	ORPHAnet
0‑L	65250	Perineural cyst	ORPHAnet
0‑L	65282	Carvajal syndrome	ORPHAnet
0‑L	65283	Timothy syndrome	ORPHAnet
0‑L	65284	Biotin-thiamine-responsive basal ganglia disease	ORPHAnet
0‑L	65285	Lhermitte-Duclos disease	ORPHAnet
0‑L	65286	3q29 microdeletion syndrome	ORPHAnet
0‑L	65287	Beta-ureidopropionase deficiency	ORPHAnet
0‑L	65288	Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome	ORPHAnet
0‑L	65681	Vaginal atresia	ORPHAnet
0‑L	65682	Benign recurrent intrahepatic cholestasis	ORPHAnet
0‑L	65683	Isolated focal cortical dysplasia	ORPHAnet
0‑L	65684	Monomelic amyotrophy	ORPHAnet
0‑L	65720	Arthrogryposis-severe scoliosis syndrome	ORPHAnet
0‑L	65743	Autosomal dominant multiple pterygium syndrome	ORPHAnet
0‑L	65748	Multiple self-healing squamous epithelioma	ORPHAnet
0‑L	65759	Carpenter syndrome	ORPHAnet
0‑L	65798	Goodman syndrome	ORPHAnet
0‑L	66518	Short fifth metacarpals-insulin resistance syndrome	ORPHAnet
0‑L	66529	Tako-Tsubo cardiomyopathy	ORPHAnet
0‑L	66624	PANDAS	ORPHAnet
0‑L	66625	Cerebrooculonasal syndrome	ORPHAnet
0‑L	66627	Tenosynovial giant cell tumor	ORPHAnet
0‑L	66628	Obesity due to congenital leptin deficiency	ORPHAnet
0‑L	66629	Goldberg-Shprintzen megacolon syndrome	ORPHAnet
0‑L	66630	Congenital pseudoarthrosis of the clavicle	ORPHAnet
0‑L	66631	CEDNIK syndrome	ORPHAnet
0‑L	66633	Sensorineural hearing loss-early graying-essential tremor syndrome	ORPHAnet
0‑L	66634	Dilated cardiomyopathy with ataxia	ORPHAnet
0‑L	66637	Diaphanospondylodysostosis	ORPHAnet
0‑L	66661	Mast cell sarcoma	ORPHAnet
0‑L	66662	Extracutaneous mastocytoma	ORPHAnet
0‑L	67036	Autosomal dominant optic atrophy and cataract	ORPHAnet
0‑L	67038	B-cell chronic lymphocytic leukemia	ORPHAnet
0‑L	67039	Segmental odontomaxillary dysplasia	ORPHAnet
0‑L	67041	Hyaluronidase deficiency	ORPHAnet
0‑L	67042	Late-onset retinal degeneration	ORPHAnet
0‑L	67043	Amoebic keratitis	ORPHAnet
0‑L	67044	Thrombocytopenia with congenital dyserythropoietic anemia	ORPHAnet
0‑L	67045	X-linked intellectual disability with isolated growth hormone deficiency	ORPHAnet
0‑L	67046	3-methylglutaconic aciduria type 1	ORPHAnet
0‑L	67047	3-methylglutaconic aciduria type 3	ORPHAnet
0‑L	67048	3-methylglutaconic aciduria type 4	ORPHAnet
0‑L	69061	Idiopathic steroid-sensitive nephrotic syndrome	ORPHAnet
0‑L	69063	Congenital membranous nephropathy due to fetomaternal anti-neutral endopeptidase alloimmunization	ORPHAnet
0‑L	69076	Familial renal glucosuria	ORPHAnet
0‑L	69077	Rhabdoid tumor	ORPHAnet
0‑L	69078	Liposarcoma	ORPHAnet
0‑L	69082	Odonto-tricho-ungual-digito-palmar syndrome	ORPHAnet
0‑L	69083	Ectodermal dysplasia with natal teeth, Turnpenny type	ORPHAnet
0‑L	69084	Pure hair and nail ectodermal dysplasia	ORPHAnet
0‑L	69085	Limb-mammary syndrome	ORPHAnet
0‑L	69087	Naegeli-Franceschetti-Jadassohn syndrome	ORPHAnet
0‑L	69088	Anhidrotic ectodermal dysplasia-immunodeficiency-osteopetrosis-lymphedema syndrome	ORPHAnet
0‑L	69125	Anonychia with flexural pigmentation	ORPHAnet
0‑L	69126	Pyogenic arthritis-pyoderma gangrenosum-acne syndrome	ORPHAnet
0‑L	69663	Low phospholipid-associated cholelithiasis	ORPHAnet
0‑L	69665	Intrahepatic cholestasis of pregnancy	ORPHAnet
0‑L	69723	Tyrosinemia type 3	ORPHAnet
0‑L	69735	Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome	ORPHAnet
0‑L	69736	Bilateral acute depigmentation of the iris	ORPHAnet
0‑L	69737	Bosley-Salih-Alorainy syndrome	ORPHAnet
0‑L	69739	Athabaskan brainstem dysgenesis syndrome	ORPHAnet
0‑L	69744	Circumscribed palmoplantar hypokeratosis	ORPHAnet
0‑L	69745	Warty dyskeratoma	ORPHAnet
0‑L	70472	Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type	ORPHAnet
0‑L	70474	Leigh syndrome with cardiomyopathy	ORPHAnet
0‑L	70475	Radiation proctitis	ORPHAnet
0‑L	70476	Vernal keratoconjunctivitis	ORPHAnet
0‑L	70567	Cholangiocarcinoma	ORPHAnet
0‑L	70568	Post-transplant lymphoproliferative disease	ORPHAnet
0‑L	70573	Small cell lung cancer	ORPHAnet
0‑L	70578	Adult acute respiratory distress syndrome	ORPHAnet
0‑L	70587	Infant acute respiratory distress syndrome	ORPHAnet
0‑L	70588	Meconium aspiration syndrome	ORPHAnet
0‑L	70589	Bronchopulmonary dysplasia	ORPHAnet
0‑L	70590	Infantile apnea	ORPHAnet
0‑L	70591	Chronic thromboembolic pulmonary hypertension	ORPHAnet
0‑L	70592	Immunodeficiency due to interleukin-1 receptor-associated kinase-4 deficiency	ORPHAnet
0‑L	70593	Immunodeficiency due to selective anti-polysaccharide antibody deficiency	ORPHAnet
0‑L	70594	Dopa-responsive dystonia due to sepiapterin reductase deficiency	ORPHAnet
0‑L	70595	Sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome	ORPHAnet
0‑L	70596	Congenital Epstein-Barr virus infection	ORPHAnet
0‑L	71211	Neuromyelitis optica spectrum disorder	ORPHAnet
0‑L	71212	Hyperinsulinism due to short chain 3-hydroxylacyl-CoA dehydrogenase deficiency	ORPHAnet
0‑L	71213	Retinal capillary malformation	ORPHAnet
0‑L	71267	Dentinogenesis imperfecta-short stature-hearing loss-intellectual disability syndrome	ORPHAnet
0‑L	71271	Split hand-split foot-deafness syndrome	ORPHAnet
0‑L	71272	Sandifer syndrome	ORPHAnet
0‑L	71273	Renal nutcracker syndrome	ORPHAnet
0‑L	71274	Disseminated peritoneal leiomyomatosis	ORPHAnet
0‑L	71275	Rh deficiency syndrome	ORPHAnet
0‑L	71276	Silent sinus syndrome	ORPHAnet
0‑L	71277	Classic glucose transporter type 1 deficiency syndrome	ORPHAnet
0‑L	71278	Congenital brain dysgenesis due to glutamine synthetase deficiency	ORPHAnet
0‑L	71279	CANOMAD syndrome	ORPHAnet
0‑L	71289	Radio-ulnar synostosis-amegakaryocytic thrombocytopenia syndrome	ORPHAnet
0‑L	71290	Familial platelet disorder with associated myeloid malignancy	ORPHAnet
0‑L	71493	Familial thrombocytosis	ORPHAnet
0‑L	71505	Cancer-associated retinopathy	ORPHAnet
0‑L	71517	Rapid-onset dystonia-parkinsonism	ORPHAnet
0‑L	71518	Benign paroxysmal torticollis of infancy	ORPHAnet
0‑L	71519	Psychogenic movement disorders	ORPHAnet
0‑L	71526	Obesity due to pro-opiomelanocortin deficiency	ORPHAnet
0‑L	71528	Obesity due to prohormone convertase I deficiency	ORPHAnet
0‑L	71529	Obesity due to melanocortin 4 receptor deficiency	ORPHAnet
0‑L	73223	Global developmental delay-osteopenia-ectodermal defect syndrome	ORPHAnet
0‑L	73224	Kidney tubulopathy-dilated cardiomyopathy syndrome	ORPHAnet
0‑L	73229	HANAC syndrome	ORPHAnet
0‑L	73230	Ossification anomalies-psychomotor developmental delay syndrome	ORPHAnet
0‑L	73245	Spinal muscular atrophy-Dandy-Walker malformation-cataracts syndrome	ORPHAnet
0‑L	73246	Visceral neuropathy-brain anomalies-facial dysmorphism-developmental delay syndrome	ORPHAnet
0‑L	73256	Central neurocytoma	ORPHAnet
0‑L	73260	Paracoccidioidomycosis	ORPHAnet
0‑L	73263	Zygomycosis	ORPHAnet
0‑L	73267	Non-24-hour sleep-wake syndrome	ORPHAnet
0‑L	73271	Bleeding diathesis due to a collagen receptor defect	ORPHAnet
0‑L	73272	Growth delay due to insulin-like growth factor type 1 deficiency	ORPHAnet
0‑L	73273	Growth delay due to insulin-like growth factor I resistance	ORPHAnet
0‑L	73423	Acute ackee fruit intoxication	ORPHAnet
0‑L	75233	Wolman disease	ORPHAnet
0‑L	75234	Cholesteryl ester storage disease	ORPHAnet
0‑L	75249	Familial isolated restrictive cardiomyopathy	ORPHAnet
0‑L	75325	Osteosclerosis-ichthyosis-premature ovarian failure syndrome	ORPHAnet
0‑L	75326	Retinal arterial tortuosity	ORPHAnet
0‑L	75327	North Carolina macular dystrophy	ORPHAnet
0‑L	75373	Progressive bifocal chorioretinal atrophy	ORPHAnet
0‑L	75374	Bradyopsia	ORPHAnet
0‑L	75376	Familial drusen	ORPHAnet
0‑L	75377	Central areolar choroidal dystrophy	ORPHAnet
0‑L	75378	Oligocone trichromacy	ORPHAnet
0‑L	75381	Cystoid macular dystrophy	ORPHAnet
0‑L	75382	Oguchi disease	ORPHAnet
0‑L	75389	Brain malformation-congenital heart disease-postaxial polydactyly syndrome	ORPHAnet
0‑L	75391	Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency	ORPHAnet
0‑L	75392	Periodontal Ehlers-Danlos syndrome	ORPHAnet
0‑L	75496	B4GALT7-related spondylodysplastic Ehlers-Danlos syndrome	ORPHAnet
0‑L	75497	X-linked Ehlers-Danlos syndrome	ORPHAnet
0‑L	75508	Angioosteohypotrophic syndrome	ORPHAnet
0‑L	75563	X-linked sideroblastic anemia	ORPHAnet
0‑L	75564	Acquired idiopathic sideroblastic anemia	ORPHAnet
0‑L	75565	Tropical endomyocardial fibrosis	ORPHAnet
0‑L	75566	Loeffler endocarditis	ORPHAnet
0‑L	75567	Primary progressive freezing gait	ORPHAnet
0‑L	75840	Congenital muscular dystrophy, Ullrich type	ORPHAnet
0‑L	75857	6q terminal deletion syndrome	ORPHAnet
0‑L	75858	MORM syndrome	ORPHAnet
0‑L	77258	Trichorhinophalangeal syndrome type 1 and 3	ORPHAnet
0‑L	77259	Gaucher disease type 1	ORPHAnet
0‑L	77260	Gaucher disease type 2	ORPHAnet
0‑L	77261	Gaucher disease type 3	ORPHAnet
0‑L	77292	Infantile neurovisceral acid sphingomyelinase deficiency	ORPHAnet
0‑L	77293	Chronic visceral acid sphingomyelinase deficiency	ORPHAnet
0‑L	77295	Odontoleukodystrophy	ORPHAnet
0‑L	77296	Morgagni-Stewart-Morel syndrome	ORPHAnet
0‑L	77297	Majeed syndrome	ORPHAnet
0‑L	77298	Anophthalmia/microphthalmia-esophageal atresia syndrome	ORPHAnet
0‑L	77299	Microphthalmia-brain atrophy syndrome	ORPHAnet
0‑L	77300	Auricular abnormalities-cleft lip with or without cleft palate-ocular abnormalities syndrome	ORPHAnet
0‑L	77301	Monosomy 9q22.3	ORPHAnet
0‑L	79076	Juvenile polyposis of infancy	ORPHAnet
0‑L	79078	IgG4-related dacryoadenitis and sialadenitis	ORPHAnet
0‑L	79083	PPARG-related familial partial lipodystrophy	ORPHAnet
0‑L	79084	Familial partial lipodystrophy, Köbberling type	ORPHAnet
0‑L	79085	AKT2-related familial partial lipodystrophy	ORPHAnet
0‑L	79086	Acquired generalized lipodystrophy	ORPHAnet
0‑L	79087	Acquired partial lipodystrophy	ORPHAnet
0‑L	79091	Hereditary inclusion body myopathy-joint contractures-ophthalmoplegia syndrome	ORPHAnet
0‑L	79093	Foix-Alajouanine syndrome	ORPHAnet
0‑L	79094	Grange syndrome	ORPHAnet
0‑L	79095	Congenital bile acid synthesis defect type 4	ORPHAnet
0‑L	79096	Pyridoxal phosphate-responsive seizures	ORPHAnet
0‑L	79097	Folinic acid-responsive seizures	ORPHAnet
0‑L	79098	Sympathetic ophthalmia	ORPHAnet
0‑L	79099	Interstitial granulomatous dermatitis with arthritis	ORPHAnet
0‑L	79100	Atrophoderma vermiculata	ORPHAnet
0‑L	79101	Hyperprolinemia type 2	ORPHAnet
0‑L	79102	Thyrotoxic periodic paralysis	ORPHAnet
0‑L	79105	Myxofibrosarcoma	ORPHAnet
0‑L	79106	Eiken syndrome	ORPHAnet
0‑L	79107	Developmental malformations-deafness-dystonia syndrome	ORPHAnet
0‑L	79113	Mandibulofacial dysostosis-microcephaly syndrome	ORPHAnet
0‑L	79118	Neonatal diabetes-congenital hypothyroidism-congenital glaucoma-hepatic fibrosis-polycystic kidneys syndrome	ORPHAnet
0‑L	79124	Hepatic veno-occlusive disease-immunodeficiency syndrome	ORPHAnet
0‑L	79126	Acute interstitial pneumonia	ORPHAnet
0‑L	79127	Respiratory bronchiolitis-interstitial lung disease syndrome	ORPHAnet
0‑L	79128	Lymphoid interstitial pneumonia	ORPHAnet
0‑L	79129	Trichodysplasia-amelogenesis imperfecta syndrome	ORPHAnet
0‑L	79133	Focal facial dermal dysplasia type I	ORPHAnet
0‑L	79134	DEND syndrome	ORPHAnet
0‑L	79135	Episodic ataxia type 3	ORPHAnet
0‑L	79136	Episodic ataxia type 4	ORPHAnet
0‑L	79137	Generalized epilepsy-paroxysmal dyskinesia syndrome	ORPHAnet
0‑L	79138	Bickerstaff brainstem encephalitis	ORPHAnet
0‑L	79139	Japanese encephalitis	ORPHAnet
0‑L	79140	Cutaneous neuroendocrine carcinoma	ORPHAnet
0‑L	79141	Hereditary painful callosities	ORPHAnet
0‑L	79143	Isolated congenital anonychia	ORPHAnet
0‑L	79144	Isolated congenital onychodysplasia	ORPHAnet
0‑L	79145	Dowling-Degos disease	ORPHAnet
0‑L	79146	Familial progressive hyperpigmentation	ORPHAnet
0‑L	79147	Familial reactive perforating collagenosis	ORPHAnet
0‑L	79148	Elastosis perforans serpiginosa	ORPHAnet
0‑L	79149	Dermochondrocorneal dystrophy	ORPHAnet
0‑L	79150	Linear and whorled nevoid hypermelanosis	ORPHAnet
0‑L	79151	Acrokeratosis verruciformis of Hopf	ORPHAnet
0‑L	79152	Disseminated superficial actinic porokeratosis	ORPHAnet
0‑L	79153	Idiopathic trachyonychia	ORPHAnet
0‑L	79154	2-aminoadipic 2-oxoadipic aciduria	ORPHAnet
0‑L	79155	Hydroxykynureninuria	ORPHAnet
0‑L	79156	Seizures-intellectual disability due to hydroxylysinuria syndrome	ORPHAnet
0‑L	79157	2-methylbutyryl-CoA dehydrogenase deficiency	ORPHAnet
0‑L	79159	Isobutyryl-CoA dehydrogenase deficiency	ORPHAnet
0‑L	79230	Hemochromatosis type 2	ORPHAnet
0‑L	79233	Hypoxanthine guanine phosphoribosyltransferase partial deficiency	ORPHAnet
0‑L	79234	Crigler-Najjar syndrome type 1	ORPHAnet
0‑L	79235	Crigler-Najjar syndrome type 2	ORPHAnet
0‑L	79237	Galactokinase deficiency	ORPHAnet
0‑L	79238	Galactose epimerase deficiency	ORPHAnet
0‑L	79239	Classic galactosemia	ORPHAnet
0‑L	79240	Glycogen storage disease due to liver and muscle phosphorylase kinase deficiency	ORPHAnet
0‑L	79241	Biotinidase deficiency	ORPHAnet
0‑L	79242	Holocarboxylase synthetase deficiency	ORPHAnet
0‑L	79243	Pyruvate dehydrogenase E1-alpha deficiency	ORPHAnet
0‑L	79244	Pyruvate dehydrogenase E2 deficiency	ORPHAnet
0‑L	79246	Pyruvate dehydrogenase phosphatase deficiency	ORPHAnet
0‑L	79253	Mild phenylketonuria	ORPHAnet
0‑L	79254	Classic phenylketonuria	ORPHAnet
0‑L	79255	GM1 gangliosidosis type 1	ORPHAnet
0‑L	79256	GM1 gangliosidosis type 2	ORPHAnet
0‑L	79257	GM1 gangliosidosis type 3	ORPHAnet
0‑L	79258	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ia	ORPHAnet
0‑L	79259	Glycogen storage disease due to glucose-6-phosphatase deficiency type Ib	ORPHAnet
0‑L	79262	Adult neuronal ceroid lipofuscinosis	ORPHAnet
0‑L	79263	Infantile neuronal ceroid lipofuscinosis	ORPHAnet
0‑L	79264	Juvenile neuronal ceroid lipofuscinosis	ORPHAnet
0‑L	79269	Sanfilippo syndrome type A	ORPHAnet
0‑L	79270	Sanfilippo syndrome type B	ORPHAnet
0‑L	79271	Sanfilippo syndrome type C	ORPHAnet
0‑L	79272	Sanfilippo syndrome type D	ORPHAnet
0‑L	79273	Hereditary coproporphyria	ORPHAnet
0‑L	79276	Acute intermittent porphyria	ORPHAnet
0‑L	79277	Congenital erythropoietic porphyria	ORPHAnet
0‑L	79278	Autosomal erythropoietic protoporphyria	ORPHAnet
0‑L	79279	Alpha-N-acetylgalactosaminidase deficiency type 1	ORPHAnet
0‑L	79280	Alpha-N-acetylgalactosaminidase deficiency type 2	ORPHAnet
0‑L	79281	Alpha-N-acetylgalactosaminidase deficiency type 3	ORPHAnet
0‑L	79282	Methylmalonic acidemia with homocystinuria, type cblC	ORPHAnet
0‑L	79283	Methylmalonic acidemia with homocystinuria, type cblD	ORPHAnet
0‑L	79284	Methylmalonic acidemia with homocystinuria type cblF	ORPHAnet
0‑L	79292	Fish-eye disease	ORPHAnet
0‑L	79293	Familial LCAT deficiency	ORPHAnet
0‑L	79299	Hyperinsulinism due to glucokinase deficiency	ORPHAnet
0‑L	79301	Congenital bile acid synthesis defect type 1	ORPHAnet
0‑L	79302	Congenital bile acid synthesis defect type 3	ORPHAnet
0‑L	79303	Congenital bile acid synthesis defect type 2	ORPHAnet
0‑L	79304	Progressive familial intrahepatic cholestasis type 2	ORPHAnet
0‑L	79305	Progressive familial intrahepatic cholestasis type 3	ORPHAnet
0‑L	79306	Progressive familial intrahepatic cholestasis type 1	ORPHAnet
0‑L	79310	Vitamin B12-responsive methylmalonic acidemia type cblA	ORPHAnet
0‑L	79311	Vitamin B12-responsive methylmalonic acidemia type cblB	ORPHAnet
0‑L	79312	Vitamin B12-unresponsive methylmalonic acidemia type mut-	ORPHAnet
0‑L	79314	L-2-hydroxyglutaric aciduria	ORPHAnet
0‑L	79315	D-2-hydroxyglutaric aciduria	ORPHAnet
0‑L	79318	PMM2-CDG	ORPHAnet
0‑L	79319	MPI-CDG	ORPHAnet
0‑L	79320	ALG6-CDG	ORPHAnet
0‑L	79321	ALG3-CDG	ORPHAnet
0‑L	79322	DPM1-CDG	ORPHAnet
0‑L	79323	MPDU1-CDG	ORPHAnet
0‑L	79324	ALG12-CDG	ORPHAnet
0‑L	79325	ALG8-CDG	ORPHAnet
0‑L	79326	ALG2-CDG	ORPHAnet
0‑L	79327	ALG1-CDG	ORPHAnet
0‑L	79328	ALG9-CDG	ORPHAnet
0‑L	79329	MGAT2-CDG	ORPHAnet
0‑L	79330	MOGS-CDG	ORPHAnet
0‑L	79332	B4GALT1-CDG	ORPHAnet
0‑L	79333	COG7-CDG	ORPHAnet
0‑L	79345	Brachytelephalangic chondrodysplasia punctata	ORPHAnet
0‑L	79346	Chondrodysplasia punctata, tibial-metacarpal type	ORPHAnet
0‑L	79347	Chondrodysplasia punctata, Toriello type	ORPHAnet
0‑L	79350	3-phosphoserine phosphatase deficiency, infantile/juvenile form	ORPHAnet
0‑L	79351	3-phosphoglycerate dehydrogenase deficiency, infantile/juvenile form	ORPHAnet
0‑L	79394	Congenital non-bullous ichthyosiform erythroderma	ORPHAnet
0‑L	79395	Keratoderma hereditarium mutilans with ichthyosis	ORPHAnet
0‑L	79396	Autosomal dominant generalized epidermolysis bullosa simplex, severe form	ORPHAnet
0‑L	79397	Epidermolysis bullosa simplex with mottled pigmentation	ORPHAnet
0‑L	79399	Autosomal dominant generalized epidermolysis bullosa simplex, intermediate form	ORPHAnet
0‑L	79400	Localized epidermolysis bullosa simplex	ORPHAnet
0‑L	79401	PLEC-related intermediate epidermolysis bullosa simplex without extracutaneous involvement	ORPHAnet
0‑L	79402	Intermediate generalized junctional epidermolysis bullosa	ORPHAnet
0‑L	79403	Junctional epidermolysis bullosa with pyloric atresia	ORPHAnet
0‑L	79404	Severe generalized junctional epidermolysis bullosa	ORPHAnet
0‑L	79405	Junctional epidermolysis bullosa inversa	ORPHAnet
0‑L	79406	Late-onset junctional epidermolysis bullosa	ORPHAnet
0‑L	79408	Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form	ORPHAnet
0‑L	79409	Recessive dystrophic epidermolysis bullosa inversa	ORPHAnet
0‑L	79410	Localized dystrophic epidermolysis bullosa, pretibial form	ORPHAnet
0‑L	79411	Self-improving dystrophic epidermolysis bullosa	ORPHAnet
0‑L	79414	Woolly hair nevus	ORPHAnet
0‑L	79430	Hermansky-Pudlak syndrome	ORPHAnet
0‑L	79431	Oculocutaneous albinism type 1A	ORPHAnet
0‑L	79432	Oculocutaneous albinism type 2	ORPHAnet
0‑L	79433	Oculocutaneous albinism type 3	ORPHAnet
0‑L	79434	Oculocutaneous albinism type 1B	ORPHAnet
0‑L	79435	Oculocutaneous albinism type 4	ORPHAnet
0‑L	79443	Pseudohypoparathyroidism type 1A	ORPHAnet
0‑L	79444	Pseudohypoparathyroidism type 1C	ORPHAnet
0‑L	79445	Pseudopseudohypoparathyroidism	ORPHAnet
0‑L	79447	X-linked lethal multiple pterygium syndrome	ORPHAnet
0‑L	79452	Milroy disease	ORPHAnet
0‑L	79455	Cutaneous mastocytoma	ORPHAnet
0‑L	79456	Diffuse cutaneous mastocytosis	ORPHAnet
0‑L	79457	Maculopapular cutaneous mastocytosis	ORPHAnet
0‑L	79466	Inflammatory linear verrucous epidermal nevus	ORPHAnet
0‑L	79467	Verrucous nevus	ORPHAnet
0‑L	79468	Acanthokeratolytic verrucous nevus	ORPHAnet
0‑L	79473	Porphyria variegata	ORPHAnet
0‑L	79474	Atypical Werner syndrome	ORPHAnet
0‑L	79476	Griscelli syndrome type 1	ORPHAnet
0‑L	79477	Griscelli syndrome type 2	ORPHAnet
0‑L	79478	Griscelli syndrome type 3	ORPHAnet
0‑L	79479	Pemphigus vegetans	ORPHAnet
0‑L	79480	Pemphigus erythematosus	ORPHAnet
0‑L	79481	Pemphigus foliaceus	ORPHAnet
0‑L	79483	Phakomatosis cesioflammea	ORPHAnet
0‑L	79484	Phakomatosis cesiomarmorata	ORPHAnet
0‑L	79485	Phakomatosis spilorosea	ORPHAnet
0‑L	79489	Macrocystic lymphatic malformation	ORPHAnet
0‑L	79490	Microcystic lymphatic malformation	ORPHAnet
0‑L	79492	Pili gemini	ORPHAnet
0‑L	79493	Brooke-Spiegler syndrome	ORPHAnet
0‑L	79495	X-linked congenital generalized hypertrichosis	ORPHAnet
0‑L	79499	Autosomal dominant deafness-onychodystrophy syndrome	ORPHAnet
0‑L	79500	DOORS syndrome	ORPHAnet
0‑L	79501	Punctate palmoplantar keratoderma type 1	ORPHAnet
0‑L	79502	Punctate palmoplantar keratoderma type 2	ORPHAnet
0‑L	79503	Ichthyosis hystrix of Curth-Macklin	ORPHAnet
0‑L	79506	Cholesterol-ester transfer protein deficiency	ORPHAnet
0‑L	79507	Hypotonia-failure to thrive-microcephaly syndrome	ORPHAnet
0‑L	79643	Autosomal recessive hyperinsulinism due to SUR1 deficiency	ORPHAnet
0‑L	79644	Autosomal recessive hyperinsulinism due to Kir6.2 deficiency	ORPHAnet
0‑L	79651	Mild hyperphenylalaninemia	ORPHAnet
0‑L	79665	Gardner syndrome	ORPHAnet
0‑L	83311	Rocky Mountain spotted fever	ORPHAnet
0‑L	83312	Rickettsialpox	ORPHAnet
0‑L	83313	Boutonneuse fever	ORPHAnet
0‑L	83314	Epidemic typhus	ORPHAnet
0‑L	83315	Murine typhus	ORPHAnet
0‑L	83316	Pseudotyphus of California	ORPHAnet
0‑L	83317	Scrub typhus	ORPHAnet
0‑L	83330	Proximal spinal muscular atrophy type 1	ORPHAnet
0‑L	83418	Proximal spinal muscular atrophy type 2	ORPHAnet
0‑L	83419	Proximal spinal muscular atrophy type 3	ORPHAnet
0‑L	83420	Proximal spinal muscular atrophy type 4	ORPHAnet
0‑L	83450	Regional odontodysplasia	ORPHAnet
0‑L	83451	Florid cemento-osseous dysplasia	ORPHAnet
0‑L	83452	Complex regional pain syndrome	ORPHAnet
0‑L	83453	Vulvovaginal gingival syndrome	ORPHAnet
0‑L	83454	Glomuvenous malformation	ORPHAnet
0‑L	83461	Congenital primary aphakia	ORPHAnet
0‑L	83463	Microtia	ORPHAnet
0‑L	83465	Narcolepsy type 2	ORPHAnet
0‑L	83467	Morvan syndrome	ORPHAnet
0‑L	83468	Solitary bone cyst	ORPHAnet
0‑L	83469	Desmoplastic small round cell tumor	ORPHAnet
0‑L	83471	Thymic aplasia	ORPHAnet
0‑L	83472	CAMOS syndrome	ORPHAnet
0‑L	83473	Megalencephaly-polymicrogyria-postaxial polydactyly-hydrocephalus syndrome	ORPHAnet
0‑L	83476	West-Nile encephalitis	ORPHAnet
0‑L	83482	Mycoplasma encephalitis	ORPHAnet
0‑L	83483	La Crosse encephalitis	ORPHAnet
0‑L	83484	St. Louis encephalitis	ORPHAnet
0‑L	83593	Western equine encephalitis	ORPHAnet
0‑L	83594	Eastern equine encephalitis	ORPHAnet
0‑L	83595	Colorado tick fever	ORPHAnet
0‑L	83597	Acute disseminated encephalomyelitis	ORPHAnet
0‑L	83600	Encephalitis lethargica	ORPHAnet
0‑L	83601	Steroid-responsive encephalopathy associated with autoimmune thyroiditis	ORPHAnet
0‑L	83616	Rubella panencephalitis	ORPHAnet
0‑L	83617	Agammaglobulinemia-microcephaly-craniosynostosis-severe dermatitis syndrome	ORPHAnet
0‑L	83619	Macrostomia-preauricular tags-external ophthalmoplegia syndrome	ORPHAnet
0‑L	83620	Enteric anendocrinosis	ORPHAnet
0‑L	83628	LUMBAR syndrome	ORPHAnet
0‑L	83629	Leukoencephalopathy-spondyloepimetaphyseal dysplasia syndrome	ORPHAnet
0‑L	83639	Hypercoagulability syndrome due to glycosylphosphatidylinositol deficiency	ORPHAnet
0‑L	83642	Microcytic anemia with liver iron overload	ORPHAnet
0‑L	84064	Syndromic diarrhea	ORPHAnet
0‑L	84065	Idiopathic malabsorption due to bile acid synthesis defects	ORPHAnet
0‑L	84081	Senior-Boichis syndrome	ORPHAnet
0‑L	84085	Hinman syndrome	ORPHAnet
0‑L	84087	Collagen type III glomerulopathy	ORPHAnet
0‑L	84090	Fibronectin glomerulopathy	ORPHAnet
0‑L	84093	Hereditary thermosensitive neuropathy	ORPHAnet
0‑L	84132	Desmin-related myopathy with Mallory body-like inclusions	ORPHAnet
0‑L	84142	Isaacs syndrome	ORPHAnet
0‑L	85110	Familial encephalopathy with neuroserpin inclusion bodies	ORPHAnet
0‑L	85112	Palmoplantar keratoderma-XX sex reversal-predisposition to squamous cell carcinoma syndrome	ORPHAnet
0‑L	85128	Bothnia retinal dystrophy	ORPHAnet
0‑L	85136	Cystic leukoencephalopathy without megalencephaly	ORPHAnet
0‑L	85138	Addison disease	ORPHAnet
0‑L	85146	Neurogenic scapuloperoneal syndrome, Kaeser type	ORPHAnet
0‑L	85162	Facial onset sensory and motor neuronopathy	ORPHAnet
0‑L	85163	Hypomyelination-congenital cataract syndrome	ORPHAnet
0‑L	85164	Camptodactyly-tall stature-scoliosis-hearing loss syndrome	ORPHAnet
0‑L	85165	Severe achondroplasia-developmental delay-acanthosis nigricans syndrome	ORPHAnet
0‑L	85166	Platyspondylic dysplasia, Torrance type	ORPHAnet
0‑L	85167	Spondylometaphyseal dysplasia-cone-rod dystrophy syndrome	ORPHAnet
0‑L	85168	Craniofacial conodysplasia	ORPHAnet
0‑L	85169	Familial digital arthropathy-brachydactyly	ORPHAnet
0‑L	85170	Mesomelic dysplasia, Savarirayan type	ORPHAnet
0‑L	85172	Microcephalic osteodysplastic dysplasia, Saul-Wilson type	ORPHAnet
0‑L	85173	IMAGe syndrome	ORPHAnet
0‑L	85174	Pseudodiastrophic dysplasia	ORPHAnet
0‑L	85175	Astley-Kendall dysplasia	ORPHAnet
0‑L	85179	Infantile osteopetrosis with neuroaxonal dysplasia	ORPHAnet
0‑L	85182	Diaphyseal medullary stenosis-bone malignancy syndrome	ORPHAnet
0‑L	85184	Craniometadiaphyseal dysplasia, wormian bone type	ORPHAnet
0‑L	85186	Endosteal sclerosis-cerebellar hypoplasia syndrome	ORPHAnet
0‑L	85188	Metaphyseal dysplasia, Braun-Tinschert type	ORPHAnet
0‑L	85191	Singleton-Merten dysplasia	ORPHAnet
0‑L	85192	Calvarial doughnut lesions-bone fragility syndrome	ORPHAnet
0‑L	85193	Idiopathic juvenile osteoporosis	ORPHAnet
0‑L	85194	Spondylo-ocular syndrome	ORPHAnet
0‑L	85195	Familial expansile osteolysis	ORPHAnet
0‑L	85197	Genochondromatosis type 1	ORPHAnet
0‑L	85198	Dysspondyloenchondromatosis	ORPHAnet
0‑L	85199	Craniosynostosis-anal anomalies-porokeratosis syndrome	ORPHAnet
0‑L	85200	Ischiovertebral syndrome	ORPHAnet
0‑L	85201	Genitopatellar syndrome	ORPHAnet
0‑L	85202	Keutel syndrome	ORPHAnet
0‑L	85203	Acropectoral syndrome	ORPHAnet
0‑L	85212	Fetal Gaucher disease	ORPHAnet
0‑L	85273	X-linked intellectual disability, Abidi type	ORPHAnet
0‑L	85274	Syndromic X-linked intellectual disability 7	ORPHAnet
0‑L	85275	Microphthalmia-ankyloblepharon-intellectual disability syndrome	ORPHAnet
0‑L	85276	X-linked intellectual disability, Armfield type	ORPHAnet
0‑L	85277	X-linked intellectual disability, Cantagrel type	ORPHAnet
0‑L	85278	Christianson syndrome	ORPHAnet
0‑L	85279	KDM5C-related syndromic X-linked intellectual disability	ORPHAnet
0‑L	85280	X-linked intellectual disability-cubitus valgus-dysmorphism syndrome	ORPHAnet
0‑L	85282	MEHMO syndrome	ORPHAnet
0‑L	85283	X-linked intellectual disability, Miles-Carpenter type	ORPHAnet
0‑L	85284	BRESEK syndrome	ORPHAnet
0‑L	85285	X-linked intellectual disability, Schimke type	ORPHAnet
0‑L	85286	X-linked intellectual disability, Shashi type	ORPHAnet
0‑L	85287	X-linked intellectual disability, Siderius type	ORPHAnet
0‑L	85288	X-linked intellectual disability, Stocco Dos Santos type	ORPHAnet
0‑L	85290	X-linked intellectual disability, Wilson type	ORPHAnet
0‑L	85292	X-linked spinocerebellar ataxia type 4	ORPHAnet
0‑L	85293	X-linked intellectual disability, Cabezas type	ORPHAnet
0‑L	85294	X-linked epilepsy-learning disabilities-behavior disorders syndrome	ORPHAnet
0‑L	85295	HSD10 disease, atypical type	ORPHAnet
0‑L	85297	X-linked spinocerebellar ataxia type 3	ORPHAnet
0‑L	85317	X-linked intellectual disability-hypogammaglobulinemia-progressive neurological deterioration syndrome	ORPHAnet
0‑L	85319	X-linked intellectual disability-epilepsy-progressive joint contractures-dysmorphism syndrome	ORPHAnet
0‑L	85320	X-linked intellectual disability-macrocephaly-macroorchidism syndrome	ORPHAnet
0‑L	85321	Deafness-intellectual disability syndrome, Martin-Probst type	ORPHAnet
0‑L	85322	X-linked intellectual disability, Pai type	ORPHAnet
0‑L	85323	X-linked intellectual disability, Seemanova type	ORPHAnet
0‑L	85324	X-linked intellectual disability, Shrimpton type	ORPHAnet
0‑L	85325	X-linked intellectual disability, Stevenson type	ORPHAnet
0‑L	85326	X-linked intellectual disability, Stoll type	ORPHAnet
0‑L	85327	X-linked intellectual disability-acromegaly-hyperactivity syndrome	ORPHAnet
0‑L	85329	X-linked intellectual disability-hypotonia-facial dysmorphism-aggressive behavior syndrome	ORPHAnet
0‑L	85332	X-linked intellectual disability-retinitis pigmentosa syndrome	ORPHAnet
0‑L	85334	X-linked neurodegenerative syndrome, Bertini type	ORPHAnet
0‑L	85335	Fried syndrome	ORPHAnet
0‑L	85336	X-linked neurodegenerative syndrome, Hamel type	ORPHAnet
0‑L	85338	X-linked intellectual disability-ataxia-apraxia syndrome	ORPHAnet
0‑L	85408	Rheumatoid factor-negative polyarticular juvenile idiopathic arthritis	ORPHAnet
0‑L	85410	Oligoarticular juvenile idiopathic arthritis	ORPHAnet
0‑L	85414	Systemic-onset juvenile idiopathic arthritis	ORPHAnet
0‑L	85435	Rheumatoid factor-positive polyarticular juvenile idiopathic arthritis	ORPHAnet
0‑L	85436	Psoriasis-related juvenile idiopathic arthritis	ORPHAnet
0‑L	85438	Enthesitis-related juvenile idiopathic arthritis	ORPHAnet
0‑L	85442	Short stature-pituitary and cerebellar defects-small sella turcica syndrome	ORPHAnet
0‑L	85443	AL amyloidosis	ORPHAnet
0‑L	85445	AA amyloidosis	ORPHAnet
0‑L	85446	Wild type ABeta2M amyloidosis	ORPHAnet
0‑L	85447	ATTRV30M amyloidosis	ORPHAnet
0‑L	85448	AGel amyloidosis	ORPHAnet
0‑L	85450	Hereditary amyloidosis with primary renal involvement	ORPHAnet
0‑L	85451	ATTRV122I amyloidosis	ORPHAnet
0‑L	85453	X-linked reticulate pigmentary disorder	ORPHAnet
0‑L	85458	Hereditary cerebral hemorrhage with amyloidosis	ORPHAnet
0‑L	86309	DPAGT1-CDG	ORPHAnet
0‑L	86788	X-linked severe congenital neutropenia	ORPHAnet
0‑L	86789	Patella aplasia/hypoplasia	ORPHAnet
0‑L	86797	Atypical lichen myxedematosus	ORPHAnet
0‑L	86812	POMT1-related limb-girdle muscular dystrophy R11	ORPHAnet
0‑L	86813	Helicoid peripapillary chorioretinal degeneration	ORPHAnet
0‑L	86814	Benign adult familial myoclonic epilepsy	ORPHAnet
0‑L	86815	Aplasia of lacrimal and salivary glands	ORPHAnet
0‑L	86816	Congenital analbuminemia	ORPHAnet
0‑L	86817	Hemolytic anemia due to adenylate kinase deficiency	ORPHAnet
0‑L	86818	Alport syndrome-intellectual disability-midface hypoplasia-elliptocytosis syndrome	ORPHAnet
0‑L	86819	Atrichia with papular lesions	ORPHAnet
0‑L	86820	Familial avascular necrosis of femoral head	ORPHAnet
0‑L	86821	Lissencephaly type 3-familial fetal akinesia sequence syndrome	ORPHAnet
0‑L	86822	Lissencephaly type 3-metacarpal bone dysplasia syndrome	ORPHAnet
0‑L	86829	Chronic neutrophilic leukemia	ORPHAnet
0‑L	86830	Chronic myeloproliferative disease, unclassifiable	ORPHAnet
0‑L	86834	Juvenile myelomonocytic leukemia	ORPHAnet
0‑L	86839	Refractory anemia with excess blasts	ORPHAnet
0‑L	86841	Myelodysplastic syndrome associated with isolated del(5q) chromosome abnormality	ORPHAnet
0‑L	86843	Acute panmyelosis with myelofibrosis	ORPHAnet
0‑L	86845	Acute myeloid leukaemia with myelodysplasia-related features	ORPHAnet
0‑L	86849	Acute basophilic leukemia	ORPHAnet
0‑L	86850	Myeloid sarcoma	ORPHAnet
0‑L	86852	B-cell prolymphocytic leukemia	ORPHAnet
0‑L	86854	Splenic marginal zone lymphoma	ORPHAnet
0‑L	86855	Plasmacytoma	ORPHAnet
0‑L	86861	Non-amyloid monoclonal immunoglobulin deposition disease	ORPHAnet
0‑L	86864	Heavy chain disease	ORPHAnet
0‑L	86867	Nodal marginal zone B-cell lymphoma	ORPHAnet
0‑L	86869	Lymphomatoid granulomatosis	ORPHAnet
0‑L	86870	CD4+/CD56+ hematodermic neoplasm	ORPHAnet
0‑L	86871	T-cell prolymphocytic leukemia	ORPHAnet
0‑L	86872	T-cell large granular lymphocyte leukemia	ORPHAnet
0‑L	86873	Aggressive NK-cell leukemia	ORPHAnet
0‑L	86875	Adult T-cell leukemia/lymphoma	ORPHAnet
0‑L	86879	Extranodal nasal NK/T cell lymphoma	ORPHAnet
0‑L	86880	Enteropathy-associated T-cell lymphoma	ORPHAnet
0‑L	86882	Hepatosplenic T-cell lymphoma	ORPHAnet
0‑L	86884	Subcutaneous panniculitis-like T-cell lymphoma	ORPHAnet
0‑L	86885	Primary cutaneous peripheral T-cell lymphoma not otherwise specified	ORPHAnet
0‑L	86886	Angioimmunoblastic T-cell lymphoma	ORPHAnet
0‑L	86893	Nodular lymphocyte predominant Hodgkin lymphoma	ORPHAnet
0‑L	86896	Histiocytic sarcoma	ORPHAnet
0‑L	86897	Langerhans cell sarcoma	ORPHAnet
0‑L	86900	Interdigitating dendritic cell sarcoma	ORPHAnet
0‑L	86902	Follicular dendritic cell sarcoma	ORPHAnet
0‑L	86903	Dendritic cell sarcoma not otherwise specified	ORPHAnet
0‑L	86904	Methotrexate-associated lymphoproliferative disorders	ORPHAnet
0‑L	86906	Hypothalamic hamartomas with gelastic seizures	ORPHAnet
0‑L	86908	Idiopathic hemiconvulsion-hemiplegia syndrome	ORPHAnet
0‑L	86909	Myoclonic epilepsy of infancy	ORPHAnet
0‑L	86911	Epilepsy with myoclonic absences	ORPHAnet
0‑L	86913	Myoclonic epilepsy in non-progressive encephalopathies	ORPHAnet
0‑L	86914	Lymphedema-cerebral arteriovenous anomaly syndrome	ORPHAnet
0‑L	86915	Lymphedema-atrial septal defects-facial changes syndrome	ORPHAnet
0‑L	86918	Diffuse palmoplantar keratoderma-acrocyanosis syndrome	ORPHAnet
0‑L	86919	Keratosis palmaris et plantaris-clinodactyly syndrome	ORPHAnet
0‑L	86920	Dermatopathia pigmentosa reticularis	ORPHAnet
0‑L	86923	Hereditary palmoplantar keratoderma, Gamborg-Nielsen type	ORPHAnet
0‑L	87503	Mal de Meleda	ORPHAnet
0‑L	87876	Sialidosis type 2	ORPHAnet
0‑L	87884	Non-syndromic genetic deafness	ORPHAnet
0‑L	88616	Autosomal recessive non-syndromic intellectual disability	ORPHAnet
0‑L	88618	S-adenosylhomocysteine hydrolase deficiency	ORPHAnet
0‑L	88619	Familial acute necrotizing encephalopathy	ORPHAnet
0‑L	88620	Isolated congenital anosmia	ORPHAnet
0‑L	88621	Ichthyosis-prematurity syndrome	ORPHAnet
0‑L	88628	Posterior column ataxia-retinitis pigmentosa syndrome	ORPHAnet
0‑L	88629	Tritanopia	ORPHAnet
0‑L	88630	Terminal osseous dysplasia-pigmentary defects syndrome	ORPHAnet
0‑L	88633	Superior limbic keratoconjunctivitis	ORPHAnet
0‑L	88635	Vacuolar myopathy with sarcoplasmic reticulum protein aggregates	ORPHAnet
0‑L	88637	Hypomyelination-hypogonadotropic hypogonadism-hypodontia syndrome	ORPHAnet
0‑L	88639	Neurodegeneration due to 3-hydroxyisobutyryl-CoA hydrolase deficiency	ORPHAnet
0‑L	88642	Congenital insensitivity to pain-anosmia-neuropathic arthropathy	ORPHAnet
0‑L	88643	Obesity-colitis-hypothyroidism-cardiac hypertrophy-developmental delay syndrome	ORPHAnet
0‑L	88644	Autosomal recessive ataxia, Beauce type	ORPHAnet
0‑L	88659	Autosomal dominant progressive nephropathy with hypertension	ORPHAnet
0‑L	88660	Hypertension due to gain-of-function mutations in the mineralocorticoid receptor	ORPHAnet
0‑L	88661	Amelogenesis imperfecta	ORPHAnet
0‑L	88917	X-linked Alport syndrome	ORPHAnet
0‑L	88918	Autosomal dominant Alport syndrome	ORPHAnet
0‑L	88919	Autosomal recessive Alport syndrome	ORPHAnet
0‑L	88924	Autosomal dominant polycystic kidney disease type 1 with tuberous sclerosis	ORPHAnet
0‑L	88938	Pseudohypoaldosteronism type 2A	ORPHAnet
0‑L	88939	Pseudohypoaldosteronism type 2B	ORPHAnet
0‑L	88940	Pseudohypoaldosteronism type 2C	ORPHAnet
0‑L	88949	MUC1-related autosomal dominant tubulointerstitial kidney disease	ORPHAnet
0‑L	88950	UMOD-related autosomal dominant tubulointerstitial kidney disease	ORPHAnet
0‑L	89838	Autosomal recessive generalized epidermolysis bullosa simplex	ORPHAnet
0‑L	89842	Autosomal recessive generalized dystrophic epidermolysis bullosa, intermediate form	ORPHAnet
0‑L	89843	Dystrophic epidermolysis bullosa pruriginosa	ORPHAnet
0‑L	89844	Lissencephaly syndrome, Norman-Roberts type	ORPHAnet
0‑L	89936	X-linked hypophosphatemia	ORPHAnet
0‑L	89937	Autosomal dominant hypophosphatemic rickets	ORPHAnet
0‑L	89938	Bartter syndrome type 4	ORPHAnet
0‑L	90000	Erythema elevatum diutinum	ORPHAnet
0‑L	90001	X-linked cone dysfunction syndrome with myopia	ORPHAnet
0‑L	90002	Undifferentiated connective tissue syndrome	ORPHAnet
0‑L	90003	Inflammatory pseudotumor of the liver	ORPHAnet
0‑L	90020	Parkinson-dementia complex of Guam	ORPHAnet
0‑L	90021	Radiation myelitis	ORPHAnet
0‑L	90023	Primary immunodeficiency syndrome due to LAMTOR2 deficiency	ORPHAnet
0‑L	90024	Deafness with labyrinthine aplasia, microtia, and microdontia	ORPHAnet
0‑L	90026	Primary erythromelalgia	ORPHAnet
0‑L	90030	Hemolytic anemia due to glutathione reductase deficiency	ORPHAnet
0‑L	90031	Non-spherocytic hemolytic anemia due to hexokinase deficiency	ORPHAnet
0‑L	90033	Autoimmune hemolytic anemia, warm type	ORPHAnet
0‑L	90035	Paroxysmal cold hemoglobinuria	ORPHAnet
0‑L	90036	Mixed-type autoimmune hemolytic anemia	ORPHAnet
0‑L	90037	Drug-induced autoimmune hemolytic anemia	ORPHAnet
0‑L	90038	Shiga toxin-associated hemolytic uremic syndrome	ORPHAnet
0‑L	90039	Hemoglobin D disease	ORPHAnet
0‑L	90041	Gaisböck syndrome	ORPHAnet
0‑L	90042	Primary familial polycythemia	ORPHAnet
0‑L	90044	Familial pseudohyperkalemia	ORPHAnet
0‑L	90045	Hereditary folate malabsorption	ORPHAnet
0‑L	90050	Retinopathy of prematurity	ORPHAnet
0‑L	90051	Sepsis in premature infants	ORPHAnet
0‑L	90052	Recurrent hepatitis C virus induced liver disease in liver transplant recipients	ORPHAnet
0‑L	90053	Complications after hematopoietic stem cell transplantation	ORPHAnet
0‑L	90056	Moderate and severe traumatic brain injury	ORPHAnet
0‑L	90058	Spinal cord injury	ORPHAnet
0‑L	90059	Acute sensorineural hearing loss by acute acoustic trauma or sudden deafness or surgery induced acoustic trauma	ORPHAnet
0‑L	90060	Diffuse alveolar hemorrhage	ORPHAnet
0‑L	90062	Acute liver failure	ORPHAnet
0‑L	90064	Acute peripheral arterial occlusion	ORPHAnet
0‑L	90065	Acquired aneurysmal subarachnoid hemorrhage	ORPHAnet
0‑L	90066	Pneumonia caused by Pseudomonas aeruginosa infection	ORPHAnet
0‑L	90068	Cocaine intoxication	ORPHAnet
0‑L	90069	Systemic monochloroacetate poisoning	ORPHAnet
0‑L	90073	Hepatitis B reinfection following liver transplantation	ORPHAnet
0‑L	90076	Partial deep dermal and full thickness burns	ORPHAnet
0‑L	90078	Invasive infections due to vancomycin-resistant enterococci	ORPHAnet
0‑L	90080	Scarring in glaucoma filtration surgical procedures	ORPHAnet
0‑L	90081	AIDS wasting syndrome	ORPHAnet
0‑L	90103	Charcot-Marie-Tooth disease-deafness-intellectual disability syndrome	ORPHAnet
0‑L	90117	Hereditary motor and sensory neuropathy, Okinawa type	ORPHAnet
0‑L	90118	Severe early-onset axonal neuropathy due to MFN2 deficiency	ORPHAnet
0‑L	90119	Hereditary motor and sensory neuropathy with acrodystrophy	ORPHAnet
0‑L	90120	Hereditary motor and sensory neuropathy type 6	ORPHAnet
0‑L	90153	Mandibuloacral dysplasia with type A lipodystrophy	ORPHAnet
0‑L	90154	Mandibuloacral dysplasia with type B lipodystrophy	ORPHAnet
0‑L	90156	Centrifugal lipodystrophy	ORPHAnet
0‑L	90157	Drug-induced localized lipodystrophy	ORPHAnet
0‑L	90158	Idiopathic localized lipodystrophy	ORPHAnet
0‑L	90159	Panniculitis-induced localized lipodystrophy	ORPHAnet
0‑L	90160	Pressure-induced localized lipoatrophy	ORPHAnet
0‑L	90186	Meige disease	ORPHAnet
0‑L	90280	Chilblain lupus	ORPHAnet
0‑L	90281	Discoid lupus erythematosus	ORPHAnet
0‑L	90282	Hypertrophic or verrucous lupus erythematosus	ORPHAnet
0‑L	90283	Lupus erythematosus tumidus	ORPHAnet
0‑L	90285	Lupus erythematosus panniculitis	ORPHAnet
0‑L	90289	Localized scleroderma	ORPHAnet
0‑L	90291	Systemic sclerosis	ORPHAnet
0‑L	90301	Acanthosis nigricans-insulin resistance-muscle cramps-acral enlargement syndrome	ORPHAnet
0‑L	90307	Parkes Weber syndrome	ORPHAnet
0‑L	90308	Klippel-Trénaunay syndrome	ORPHAnet
0‑L	90321	Cockayne syndrome type 1	ORPHAnet
0‑L	90322	Cockayne syndrome type 2	ORPHAnet
0‑L	90324	Cockayne syndrome type 3	ORPHAnet
0‑L	90340	Blau syndrome	ORPHAnet
0‑L	90342	Xeroderma pigmentosum variant	ORPHAnet
0‑L	90348	Autosomal dominant cutis laxa	ORPHAnet
0‑L	90349	Autosomal recessive cutis laxa type 1	ORPHAnet
0‑L	90354	Brittle cornea syndrome	ORPHAnet
0‑L	90362	Primary intestinal lymphangiectasia	ORPHAnet
0‑L	90363	Secondary intestinal lymphangiectasia	ORPHAnet
0‑L	90368	Hypotrichosis simplex of the scalp	ORPHAnet
0‑L	90389	Telangiectasia macularis eruptiva perstans	ORPHAnet
0‑L	90390	Anonychia-onychodystrophy syndrome	ORPHAnet
0‑L	90393	Nodular lichen myxedematosus	ORPHAnet
0‑L	90394	Discrete papular lichen myxedematosus	ORPHAnet
0‑L	90395	Papular mucinosis of infancy	ORPHAnet
0‑L	90396	Acral persistent papular mucinosis	ORPHAnet
0‑L	90397	Self-healing papular mucinosis	ORPHAnet
0‑L	90398	Localized lichen myxedematosus with mixed features of different subtypes	ORPHAnet
0‑L	90399	Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms	ORPHAnet
0‑L	90400	Scleromyxedema without monoclonal gammopathy	ORPHAnet
0‑L	90625	X-linked non-syndromic sensorineural deafness type DFN	ORPHAnet
0‑L	90635	Autosomal dominant non-syndromic sensorineural deafness type DFNA	ORPHAnet
0‑L	90636	Autosomal recessive non-syndromic sensorineural deafness type DFNB	ORPHAnet
0‑L	90641	Mitochondrial non-syndromic sensorineural deafness	ORPHAnet
0‑L	90646	Deafness-hypogonadism syndrome	ORPHAnet
0‑L	90647	Jervell and Lange-Nielsen syndrome	ORPHAnet
0‑L	90650	Otopalatodigital syndrome type 1	ORPHAnet
0‑L	90652	Otopalatodigital syndrome type 2	ORPHAnet
0‑L	90653	Stickler syndrome type 1	ORPHAnet
0‑L	90654	Stickler syndrome type 2	ORPHAnet
0‑L	90658	Charcot-Marie-Tooth disease type 1E	ORPHAnet
0‑L	90673	Hypothyroidism due to TSH receptor mutations	ORPHAnet
0‑L	90674	Isolated thyroid-stimulating hormone deficiency	ORPHAnet
0‑L	90695	Non-acquired panhypopituitarism	ORPHAnet
0‑L	90790	Congenital lipoid adrenal hyperplasia due to STAR deficency	ORPHAnet
0‑L	90791	Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency	ORPHAnet
0‑L	90793	Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency	ORPHAnet
0‑L	90794	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency	ORPHAnet
0‑L	90795	Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency	ORPHAnet
0‑L	90796	46,XY disorder of sex development due to isolated 17,20-lyase deficiency	ORPHAnet
0‑L	90797	Partial androgen insensitivity syndrome	ORPHAnet
0‑L	91127	Adenovirus infection in immunocompromised patients	ORPHAnet
0‑L	91130	Cardiomyopathy-hypotonia-lactic acidosis syndrome	ORPHAnet
0‑L	91131	DK1-CDG	ORPHAnet
0‑L	91132	Ichthyosis-hypotrichosis syndrome	ORPHAnet
0‑L	91135	Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency	ORPHAnet
0‑L	91136	Acquired monoclonal Ig light chain-associated Fanconi syndrome	ORPHAnet
0‑L	91138	Cryoglobulinemic vasculitis	ORPHAnet
0‑L	91139	Simple cryoglobulinemia	ORPHAnet
0‑L	91140	Unspecified juvenile idiopathic arthritis	ORPHAnet
0‑L	91347	TSH-secreting pituitary adenoma	ORPHAnet
0‑L	91348	Functioning gonadotropic adenoma	ORPHAnet
0‑L	91349	Non-functioning pituitary adenoma	ORPHAnet
0‑L	91350	Pituitary deficiency due to Rathke cleft cysts	ORPHAnet
0‑L	91351	Pituitary dermoid and epidermoid cysts	ORPHAnet
0‑L	91352	Germinoma of the central nervous system	ORPHAnet
0‑L	91354	Pituitary deficiency due to empty sella turcica syndrome	ORPHAnet
0‑L	91355	Sheehan syndrome	ORPHAnet
0‑L	91358	Congenital esophageal diverticulum	ORPHAnet
0‑L	91359	Chronic pneumonitis of infancy	ORPHAnet
0‑L	91364	Non-specific interstitial pneumonia	ORPHAnet
0‑L	91387	Familial thoracic aortic aneurysm and aortic dissection	ORPHAnet
0‑L	91396	Isolated cryptophthalmia	ORPHAnet
0‑L	91397	Isolated ankyloblepharon filiforme adnatum	ORPHAnet
0‑L	91411	Congenital ptosis	ORPHAnet
0‑L	91412	Marcus-Gunn syndrome	ORPHAnet
0‑L	91413	Congenital Horner syndrome	ORPHAnet
0‑L	91414	Pilomatrixoma	ORPHAnet
0‑L	91416	Isolated congenital alacrima	ORPHAnet
0‑L	91481	Ring dermoid of cornea	ORPHAnet
0‑L	91483	Rieger anomaly	ORPHAnet
0‑L	91489	Isolated congenital megalocornea	ORPHAnet
0‑L	91490	Isolated congenital sclerocornea	ORPHAnet
0‑L	91491	Congenital ectropion uveae	ORPHAnet
0‑L	91492	Early-onset non-syndromic cataract	ORPHAnet
0‑L	91494	Macular coloboma-cleft palate-hallux valgus syndrome	ORPHAnet
0‑L	91495	Persistent hyperplastic primary vitreous	ORPHAnet
0‑L	91496	Snowflake vitreoretinal degeneration	ORPHAnet
0‑L	91498	Familial congenital palsy of trochlear nerve	ORPHAnet
0‑L	91500	Tubulointerstitial nephritis and uveitis syndrome	ORPHAnet
0‑L	91546	Lyme disease	ORPHAnet
0‑L	91547	Relapsing fever	ORPHAnet
0‑L	92050	Congenital tufting enteropathy	ORPHAnet
0‑L	93100	Renal agenesis, unilateral	ORPHAnet
0‑L	93101	Renal hypoplasia	ORPHAnet
0‑L	93108	Renal dysplasia	ORPHAnet
0‑L	93109	Congenital megacalycosis	ORPHAnet
0‑L	93110	Posterior urethral valve	ORPHAnet
0‑L	93111	HNF1B-related autosomal dominant tubulointerstitial kidney disease	ORPHAnet
0‑L	93114	Autosomal dominant intermediate Charcot-Marie-Tooth disease type E	ORPHAnet
0‑L	93126	Pauci-immune glomerulonephritis	ORPHAnet
0‑L	93160	Hypocalcemic vitamin D-resistant rickets	ORPHAnet
0‑L	93164	Transient pseudohypoaldosteronism	ORPHAnet
0‑L	93172	Renal dysplasia, unilateral	ORPHAnet
0‑L	93173	Renal dysplasia, bilateral	ORPHAnet
0‑L	93176	Unilateral congenital megacalycosis	ORPHAnet
0‑L	93177	Congenital bilateral megacalycosis	ORPHAnet
0‑L	93256	Fragile X-associated tremor/ataxia syndrome	ORPHAnet
0‑L	93258	Pfeiffer syndrome type 1	ORPHAnet
0‑L	93259	Pfeiffer syndrome type 2	ORPHAnet
0‑L	93260	Pfeiffer syndrome type 3	ORPHAnet
0‑L	93262	Crouzon syndrome-acanthosis nigricans syndrome	ORPHAnet
0‑L	93267	Cloverleaf skull-multiple congenital anomalies syndrome	ORPHAnet
0‑L	93268	Short rib-polydactyly syndrome, Beemer-Langer type	ORPHAnet
0‑L	93269	Short rib-polydactyly syndrome, Majewski type	ORPHAnet
0‑L	93270	Short rib-polydactyly syndrome, Saldino-Noonan type	ORPHAnet
0‑L	93271	Short rib-polydactyly syndrome, Verma-Naumoff type	ORPHAnet
0‑L	93274	Thanatophoric dysplasia type 2	ORPHAnet
0‑L	93276	Polyostotic fibrous dysplasia	ORPHAnet
0‑L	93277	Monostotic fibrous dysplasia	ORPHAnet
0‑L	93279	Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis	ORPHAnet
0‑L	93282	Spondyloepimetaphyseal dysplasia, PAPSS2 type	ORPHAnet
0‑L	93283	Spondyloepiphyseal dysplasia, Kimberley type	ORPHAnet
0‑L	93284	Spondyloepiphyseal dysplasia tarda	ORPHAnet
0‑L	93292	Adenoma of pancreas	ORPHAnet
0‑L	93293	Okihiro syndrome	ORPHAnet
0‑L	93296	Achondrogenesis type 2	ORPHAnet
0‑L	93297	Hypochondrogenesis	ORPHAnet
0‑L	93298	Achondrogenesis type 1B	ORPHAnet
0‑L	93299	Achondrogenesis type 1A	ORPHAnet
0‑L	93302	Brachyolmia, Maroteaux type	ORPHAnet
0‑L	93304	Autosomal dominant brachyolmia	ORPHAnet
0‑L	93307	Multiple epiphyseal dysplasia type 4	ORPHAnet
0‑L	93308	Multiple epiphyseal dysplasia type 1	ORPHAnet
0‑L	93311	Multiple epiphyseal dysplasia type 5	ORPHAnet
0‑L	93314	Spondylometaphyseal dysplasia, Kozlowski type	ORPHAnet
0‑L	93315	Spondylometaphyseal dysplasia, 'corner fracture' type	ORPHAnet
0‑L	93316	Spondylometaphyseal dysplasia, Schmidt type	ORPHAnet
0‑L	93317	Spondylometaphyseal dysplasia, Sedaghatian type	ORPHAnet
0‑L	93320	Ulnar hemimelia	ORPHAnet
0‑L	93321	Radial hemimelia	ORPHAnet
0‑L	93322	Tibial hemimelia	ORPHAnet
0‑L	93323	Fibular hemimelia	ORPHAnet
0‑L	93324	Autosomal recessive Kenny-Caffey syndrome	ORPHAnet
0‑L	93325	Autosomal dominant Kenny-Caffey syndrome	ORPHAnet
0‑L	93328	Autosomal dominant omodysplasia	ORPHAnet
0‑L	93329	Autosomal recessive omodysplasia	ORPHAnet
0‑L	93333	Pelviscapular dysplasia	ORPHAnet
0‑L	93334	Postaxial polydactyly type A	ORPHAnet
0‑L	93335	Postaxial polydactyly type B	ORPHAnet
0‑L	93336	Polydactyly of a triphalangeal thumb	ORPHAnet
0‑L	93337	Polydactyly of an index finger	ORPHAnet
0‑L	93338	Polysyndactyly	ORPHAnet
0‑L	93339	Polydactyly of a biphalangeal thumb	ORPHAnet
0‑L	93346	Spondyloepimetaphyseal dysplasia congenita, Strudwick type	ORPHAnet
0‑L	93347	Anauxetic dysplasia	ORPHAnet
0‑L	93349	X-linked spondyloepimetaphyseal dysplasia	ORPHAnet
0‑L	93351	Spondyloepimetaphyseal dysplasia, Irapa type	ORPHAnet
0‑L	93352	Spondyloepimetaphyseal dysplasia, Shohat type	ORPHAnet
0‑L	93356	Spondyloepimetaphyseal dysplasia, Missouri type	ORPHAnet
0‑L	93357	SPONASTRIME dysplasia	ORPHAnet
0‑L	93358	Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome	ORPHAnet
0‑L	93359	Spondyloepimetaphyseal dysplasia with joint laxity	ORPHAnet
0‑L	93360	Spondyloepimetaphyseal dysplasia with multiple dislocations	ORPHAnet
0‑L	93372	Familial hypocalciuric hypercalcemia type 1	ORPHAnet
0‑L	93382	Brachydactyly type A6	ORPHAnet
0‑L	93383	Brachydactyly type B	ORPHAnet
0‑L	93384	Brachydactyly type C	ORPHAnet
0‑L	93387	Brachydactyly type E	ORPHAnet
0‑L	93388	Brachydactyly type A1	ORPHAnet
0‑L	93394	Brachydactyly type A4	ORPHAnet
0‑L	93396	Brachydactyly type A2	ORPHAnet
0‑L	93397	Brachydactyly type A7	ORPHAnet
0‑L	93398	Genochondromatosis type 2	ORPHAnet
0‑L	93399	Juvenile sialidosis type 2	ORPHAnet
0‑L	93400	Congenital sialidosis type 2	ORPHAnet
0‑L	93402	Syndactyly type 1	ORPHAnet
0‑L	93403	Syndactyly type 2	ORPHAnet
0‑L	93404	Syndactyly type 3	ORPHAnet
0‑L	93405	Syndactyly type 4	ORPHAnet
0‑L	93406	Syndactyly type 5	ORPHAnet
0‑L	93409	Brachydactyly-syndactyly, Zhao type	ORPHAnet
0‑L	93473	Hurler syndrome	ORPHAnet
0‑L	93474	Scheie syndrome	ORPHAnet
0‑L	93476	Hurler-Scheie syndrome	ORPHAnet
0‑L	93552	Pediatric systemic lupus erythematosus	ORPHAnet
0‑L	93554	Mixed cryoglobulinemia type II	ORPHAnet
0‑L	93555	Mixed cryoglobulinemia type III	ORPHAnet
0‑L	93556	Heavy chain deposition disease	ORPHAnet
0‑L	93557	Light and heavy chain deposition disease	ORPHAnet
0‑L	93558	Light chain deposition disease	ORPHAnet
0‑L	93560	AApoAI amyloidosis	ORPHAnet
0‑L	93561	ALys amyloidosis	ORPHAnet
0‑L	93562	AFib amyloidosis	ORPHAnet
0‑L	93568	Juvenile polymyositis	ORPHAnet
0‑L	93569	Polymyalgia rheumatica	ORPHAnet
0‑L	93571	Dense deposit disease	ORPHAnet
0‑L	93581	Atypical hemolytic uremic syndrome with anti-factor H antibodies	ORPHAnet
0‑L	93583	Congenital thrombotic thrombocytopenic purpura	ORPHAnet
0‑L	93585	Immune-mediated thrombotic thrombocytopenic purpura	ORPHAnet
0‑L	93589	Late-onset nephronophthisis	ORPHAnet
0‑L	93591	Infantile nephronophthisis	ORPHAnet
0‑L	93592	Juvenile nephronophthisis	ORPHAnet
0‑L	93598	Primary hyperoxaluria type 1	ORPHAnet
0‑L	93599	Primary hyperoxaluria type 2	ORPHAnet
0‑L	93600	Primary hyperoxaluria type 3	ORPHAnet
0‑L	93601	Xanthinuria type I	ORPHAnet
0‑L	93602	Xanthinuria type II	ORPHAnet
0‑L	93605	Bartter syndrome type 3	ORPHAnet
0‑L	93606	Nephrogenic syndrome of inappropriate antidiuresis	ORPHAnet
0‑L	93607	Autosomal recessive proximal renal tubular acidosis	ORPHAnet
0‑L	93608	Autosomal dominant distal renal tubular acidosis	ORPHAnet
0‑L	93610	Distal renal tubular acidosis with anemia	ORPHAnet
0‑L	93612	Cystinuria type A	ORPHAnet
0‑L	93613	Cystinuria type B	ORPHAnet
0‑L	93616	Hemoglobin H disease	ORPHAnet
0‑L	93622	Dent disease type 1	ORPHAnet
0‑L	93623	Dent disease type 2	ORPHAnet
0‑L	93672	Juvenile dermatomyositis	ORPHAnet
0‑L	93685	Unicentric Castleman disease	ORPHAnet
0‑L	93921	Schwannomatosis	ORPHAnet
0‑L	93924	Lobar holoprosencephaly	ORPHAnet
0‑L	93925	Alobar holoprosencephaly	ORPHAnet
0‑L	93926	Midline interhemispheric variant of holoprosencephaly	ORPHAnet
0‑L	93928	Isolated epispadias	ORPHAnet
0‑L	93929	Cloacal exstrophy	ORPHAnet
0‑L	93930	Bladder exstrophy	ORPHAnet
0‑L	93932	FG syndrome type 1	ORPHAnet
0‑L	93938	Laryngotracheoesophageal cleft type 1	ORPHAnet
0‑L	93939	Laryngotracheoesophageal cleft type 2	ORPHAnet
0‑L	93940	Laryngotracheoesophageal cleft type 3	ORPHAnet
0‑L	93941	Laryngotracheoesophageal cleft type 4	ORPHAnet
0‑L	93945	X-linked intellectual disability, Porteous type	ORPHAnet
0‑L	93946	Hamel cerebro-palato-cardiac syndrome	ORPHAnet
0‑L	93947	X-linked intellectual disability, Golabi-Ito-Hall type	ORPHAnet
0‑L	93950	X-linked intellectual disability, Sutherland-Haan type	ORPHAnet
0‑L	93952	X-linked intellectual disability, Hedera type	ORPHAnet
0‑L	93953	Familial thyroglossal duct cyst	ORPHAnet
0‑L	93958	Oromandibular dystonia	ORPHAnet
0‑L	93964	Blepharospasm-oromandibular dystonia syndrome	ORPHAnet
0‑L	93969	Myelomeningocele	ORPHAnet
0‑L	93976	Anotia	ORPHAnet
0‑L	94056	Humero-ulnar synostosis	ORPHAnet
0‑L	94058	Neovascular glaucoma	ORPHAnet
0‑L	94059	Uremic pruritus	ORPHAnet
0‑L	94063	12q14 microdeletion syndrome	ORPHAnet
0‑L	94064	Deafness-infertility syndrome	ORPHAnet
0‑L	94065	15q24 microdeletion syndrome	ORPHAnet
0‑L	94066	Severe intellectual disability-epilepsy-anal anomalies-distal phalangeal hypoplasia	ORPHAnet
0‑L	94068	Spondyloepiphyseal dysplasia congenita	ORPHAnet
0‑L	94080	Non-functioning paraganglioma	ORPHAnet
0‑L	94083	Partington syndrome	ORPHAnet
0‑L	94086	Blue diaper syndrome	ORPHAnet
0‑L	94087	Cytophagic histiocytic panniculitis	ORPHAnet
0‑L	94088	Hereditary renal hypouricemia	ORPHAnet
0‑L	94089	Pseudohypoparathyroidism type 1B	ORPHAnet
0‑L	94090	Pseudohypoparathyroidism type 2	ORPHAnet
0‑L	94091	Mills syndrome	ORPHAnet
0‑L	94093	Neuroleptic malignant syndrome	ORPHAnet
0‑L	94122	Cerebellar ataxia, Cayman type	ORPHAnet
0‑L	94124	Spinocerebellar ataxia with axonal neuropathy type 1	ORPHAnet
0‑L	94125	Recessive mitochondrial ataxia syndrome	ORPHAnet
0‑L	94147	Spinocerebellar ataxia type 7	ORPHAnet
0‑L	94150	Anonychia congenita totalis	ORPHAnet
0‑L	95159	Hepatoerythropoietic porphyria	ORPHAnet
0‑L	95232	Lissencephaly due to LIS1 mutation	ORPHAnet
0‑L	95409	Acute adrenal insufficiency	ORPHAnet
0‑L	95427	Secondary short bowel syndrome	ORPHAnet
0‑L	95428	COG8-CDG	ORPHAnet
0‑L	95429	Angioma serpiginosum	ORPHAnet
0‑L	95430	Congenital tracheomalacia	ORPHAnet
0‑L	95431	Twin to twin transfusion syndrome	ORPHAnet
0‑L	95433	Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome	ORPHAnet
0‑L	95434	Autosomal recessive cerebellar ataxia-movement disorder syndrome	ORPHAnet
0‑L	95443	Mesocardia	ORPHAnet
0‑L	95448	Congenital aortic valve atresia	ORPHAnet
0‑L	95455	Stevens-Johnson syndrome/toxic epidermal necrolysis spectrum	ORPHAnet
0‑L	95457	Tricuspid valve agenesis	ORPHAnet
0‑L	95459	Congenital tricuspid stenosis	ORPHAnet
0‑L	95461	Straddling or overriding tricuspid valve	ORPHAnet
0‑L	95462	Accessory tricuspid valve tissue	ORPHAnet
0‑L	95465	Cleft mitral valve	ORPHAnet
0‑L	95474	Double-orifice mitral valve	ORPHAnet
0‑L	95486	Premature closure of the arterial duct	ORPHAnet
0‑L	95491	Congenital coronary artery aneurysm	ORPHAnet
0‑L	95494	Combined pituitary hormone deficiencies, genetic forms	ORPHAnet
0‑L	95496	Pituitary stalk interruption syndrome	ORPHAnet
0‑L	95507	Congenital anomaly of hepatic vein	ORPHAnet
0‑L	95512	Adenohypophysitis	ORPHAnet
0‑L	95513	Panhypophysitis	ORPHAnet
0‑L	95613	Pituitary apoplexy	ORPHAnet
0‑L	95619	Post-traumatic pituitary deficiency	ORPHAnet
0‑L	95626	Acquired central diabetes insipidus	ORPHAnet
0‑L	95699	Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency	ORPHAnet
0‑L	95700	Familial adrenal hypoplasia with absent pituitary luteinizing hormone	ORPHAnet
0‑L	95702	X-linked adrenal hypoplasia congenita	ORPHAnet
0‑L	95706	Non-syndromic posterior hypospadias	ORPHAnet
0‑L	95707	Idiopathic isolated micropenis	ORPHAnet
0‑L	95712	Thyroid ectopia	ORPHAnet
0‑L	95713	Athyreosis	ORPHAnet
0‑L	95715	Congenital hypothyroidism due to transplacental passage of TSH-binding inhibitory antibodies	ORPHAnet
0‑L	95716	Familial thyroid dyshormonogenesis	ORPHAnet
0‑L	95717	Idiopathic congenital hypothyroidism	ORPHAnet
0‑L	95719	Thyroid hemiagenesis	ORPHAnet
0‑L	95720	Thyroid hypoplasia	ORPHAnet
0‑L	95854	Levocardia	ORPHAnet
0‑L	96055	Tetrasomy 21	ORPHAnet
0‑L	96059	Mosaic trisomy 4	ORPHAnet
0‑L	96060	Mosaic trisomy 5	ORPHAnet
0‑L	96061	Mosaic trisomy 8	ORPHAnet
0‑L	96063	Mosaic trisomy 10	ORPHAnet
0‑L	96068	Mosaic trisomy 22	ORPHAnet
0‑L	96069	Distal trisomy 1p36	ORPHAnet
0‑L	96070	Distal trisomy 2p	ORPHAnet
0‑L	96071	Distal trisomy 3p	ORPHAnet
0‑L	96072	4p16.3 microduplication syndrome	ORPHAnet
0‑L	96074	Distal trisomy 7p	ORPHAnet
0‑L	96076	Beckwith-Wiedemann syndrome due to 11p15 microduplication	ORPHAnet
0‑L	96078	16p13.3 microduplication syndrome	ORPHAnet
0‑L	96092	8p inverted duplication/deletion syndrome	ORPHAnet
0‑L	96094	Distal trisomy 2q	ORPHAnet
0‑L	96095	3q26 microduplication syndrome	ORPHAnet
0‑L	96096	Distal trisomy 4q	ORPHAnet
0‑L	96097	Distal trisomy 5q	ORPHAnet
0‑L	96098	Distal trisomy 6q	ORPHAnet
0‑L	96100	Distal trisomy 8q	ORPHAnet
0‑L	96101	Distal trisomy 9q	ORPHAnet
0‑L	96102	Distal trisomy 10q	ORPHAnet
0‑L	96103	Distal trisomy 11q	ORPHAnet
0‑L	96105	Distal trisomy 13q	ORPHAnet
0‑L	96106	Distal trisomy 16q	ORPHAnet
0‑L	96107	Distal trisomy 20q	ORPHAnet
0‑L	96109	Distal trisomy 22q	ORPHAnet
0‑L	96112	Non-distal trisomy 9q	ORPHAnet
0‑L	96121	7q11.23 microduplication syndrome	ORPHAnet
0‑L	96123	Monosomy 22	ORPHAnet
0‑L	96125	Distal monosomy 6p	ORPHAnet
0‑L	96126	Distal monosomy 7p	ORPHAnet
0‑L	96129	Distal monosomy 19p13.3	ORPHAnet
0‑L	96145	Distal monosomy 4q	ORPHAnet
0‑L	96147	Kleefstra syndrome due to 9q34 microdeletion	ORPHAnet
0‑L	96148	Distal monosomy 10q	ORPHAnet
0‑L	96149	Distal monosomy 12q	ORPHAnet
0‑L	96150	Distal monosomy 14q	ORPHAnet
0‑L	96160	Non-distal monosomy 12q	ORPHAnet
0‑L	96167	Recombinant 8 syndrome	ORPHAnet
0‑L	96168	Monosomy 13q34	ORPHAnet
0‑L	96169	Koolen-De Vries syndrome	ORPHAnet
0‑L	96170	Emanuel syndrome	ORPHAnet
0‑L	96171	Ring chromosome 2 syndrome	ORPHAnet
0‑L	96172	Ring chromosome 3 syndrome	ORPHAnet
0‑L	96173	Ring chromosome 9 syndrome	ORPHAnet
0‑L	96175	Ring chromosome 11 syndrome	ORPHAnet
0‑L	96176	Ring chromosome 13 syndrome	ORPHAnet
0‑L	96177	Ring chromosome 15 syndrome	ORPHAnet
0‑L	96178	Ring chromosome 16 syndrome	ORPHAnet
0‑L	96179	Maternal uniparental disomy of chromosome 2	ORPHAnet
0‑L	96180	Maternal uniparental disomy of chromosome 4	ORPHAnet
0‑L	96181	Maternal uniparental disomy of chromosome 6	ORPHAnet
0‑L	96182	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 7	ORPHAnet
0‑L	96183	Maternal uniparental disomy of chromosome 9	ORPHAnet
0‑L	96184	Temple syndrome due to maternal uniparental disomy of chromosome 14	ORPHAnet
0‑L	96185	Maternal uniparental disomy of chromosome 16	ORPHAnet
0‑L	96186	Maternal uniparental disomy of chromosome 20	ORPHAnet
0‑L	96187	Maternal uniparental disomy of chromosome 21	ORPHAnet
0‑L	96188	Maternal uniparental disomy of chromosome 22	ORPHAnet
0‑L	96190	Paternal uniparental disomy of chromosome 5	ORPHAnet
0‑L	96191	Paternal uniparental disomy of chromosome 6	ORPHAnet
0‑L	96192	Paternal uniparental disomy of chromosome 7	ORPHAnet
0‑L	96193	Beckwith-Wiedemann syndrome due to paternal uniparental disomy of chromosome 11	ORPHAnet
0‑L	96194	Paternal uniparental disomy of chromosome 20	ORPHAnet
0‑L	96195	Paternal uniparental disomy of chromosome 21	ORPHAnet
0‑L	96201	X small rings	ORPHAnet
0‑L	96253	Cushing disease	ORPHAnet
0‑L	96263	48,XXXY syndrome	ORPHAnet
0‑L	96264	49,XXXXY syndrome	ORPHAnet
0‑L	96265	Leydig cell hypoplasia due to complete LH resistance	ORPHAnet
0‑L	96266	Leydig cell hypoplasia due to partial LH resistance	ORPHAnet
0‑L	96269	Isolated partial vaginal agenesis	ORPHAnet
0‑L	96334	Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14	ORPHAnet
0‑L	96369	Early-onset schizophrenia	ORPHAnet
0‑L	97214	Eisenmenger syndrome	ORPHAnet
0‑L	97229	Riboflavin transporter deficiency	ORPHAnet
0‑L	97230	Solar urticaria	ORPHAnet
0‑L	97232	Fingerprint body myopathy	ORPHAnet
0‑L	97234	Glycogen storage disease due to phosphoglycerate mutase deficiency	ORPHAnet
0‑L	97238	Rippling muscle disease	ORPHAnet
0‑L	97239	Reducing body myopathy	ORPHAnet
0‑L	97240	Zebra body myopathy	ORPHAnet
0‑L	97244	Rigid spine syndrome	ORPHAnet
0‑L	97249	Pontocerebellar hypoplasia type 3	ORPHAnet
0‑L	97252	Mega-cisterna magna	ORPHAnet
0‑L	97261	GRFoma	ORPHAnet
0‑L	97278	PPoma	ORPHAnet
0‑L	97279	Insulinoma	ORPHAnet
0‑L	97280	Glucagonoma	ORPHAnet
0‑L	97282	VIPoma	ORPHAnet
0‑L	97283	Somatostatinoma	ORPHAnet
0‑L	97285	Thyroid lymphoma	ORPHAnet
0‑L	97286	Carney-Stratakis syndrome	ORPHAnet
0‑L	97287	Bronchial neuroendocrine tumor	ORPHAnet
0‑L	97289	Thymic neuroendocrine tumor	ORPHAnet
0‑L	97290	Familial papillary thyroid carcinoma with renal papillary neoplasia	ORPHAnet
0‑L	97292	Cardiogenic shock	ORPHAnet
0‑L	97297	Bohring-Opitz syndrome	ORPHAnet
0‑L	97330	Thoracic outlet syndrome	ORPHAnet
0‑L	97332	Kienbock disease	ORPHAnet
0‑L	97335	Osgood-Schlatter disease	ORPHAnet
0‑L	97336	Panner disease	ORPHAnet
0‑L	97337	Sinding-Larsen-Johansson disease	ORPHAnet
0‑L	97338	Melanoma of soft tissue	ORPHAnet
0‑L	97339	Dural sinus malformation	ORPHAnet
0‑L	97340	Hunter-McAlpine syndrome	ORPHAnet
0‑L	97341	Persistent placoid maculopathy	ORPHAnet
0‑L	97345	ABri amyloidosis	ORPHAnet
0‑L	97346	ADan amyloidosis	ORPHAnet
0‑L	97349	Postencephalitic parkinsonism	ORPHAnet
0‑L	97352	Pellagra	ORPHAnet
0‑L	97353	Dementia pugilistica	ORPHAnet
0‑L	97355	Caribbean parkinsonism	ORPHAnet
0‑L	97360	Robinow syndrome	ORPHAnet
0‑L	97361	Renal hypoplasia, unilateral	ORPHAnet
0‑L	97362	Renal hypoplasia, bilateral	ORPHAnet
0‑L	97363	Unilateral multicystic dysplastic kidney	ORPHAnet
0‑L	97364	Bilateral multicystic dysplastic kidney	ORPHAnet
0‑L	97366	Multiloculated renal cyst	ORPHAnet
0‑L	97367	Renal tubular dysgenesis due to twin-twin transfusion	ORPHAnet
0‑L	97368	Drug-related renal tubular dysgenesis	ORPHAnet
0‑L	97369	Renal tubular dysgenesis of genetic origin	ORPHAnet
0‑L	97548	Right sided atrial isomerism	ORPHAnet
0‑L	97560	Primary membranous glomerulonephritis	ORPHAnet
0‑L	97563	Pauci-immune glomerulonephritis with ANCA	ORPHAnet
0‑L	97564	Pauci-immune glomerulonephritis without ANCA	ORPHAnet
0‑L	97566	Non-amyloid fibrillary glomerulopathy	ORPHAnet
0‑L	97567	Immunotactoid glomerulopathy	ORPHAnet
0‑L	97598	Congenital renal artery stenosis	ORPHAnet
0‑L	97678	Maternal uniparental disomy of chromosome 13	ORPHAnet
0‑L	97685	17q11 microdeletion syndrome	ORPHAnet
0‑L	98267	Genetic non-syndromic obesity	ORPHAnet
0‑L	98434	Hereditary combined deficiency of vitamin K-dependent clotting factors	ORPHAnet
0‑L	98606	Syndromic orbital border hypoplasia	ORPHAnet
0‑L	98619	Rare isolated myopia	ORPHAnet
0‑L	98673	Autosomal dominant optic atrophy, classic form	ORPHAnet
0‑L	98676	Autosomal recessive isolated optic atrophy	ORPHAnet
0‑L	98686	Congenital trochlear nerve palsy	ORPHAnet
0‑L	98754	Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15	ORPHAnet
0‑L	98755	Spinocerebellar ataxia type 1	ORPHAnet
0‑L	98756	Spinocerebellar ataxia type 2	ORPHAnet
0‑L	98757	Spinocerebellar ataxia type 3	ORPHAnet
0‑L	98758	Spinocerebellar ataxia type 6	ORPHAnet
0‑L	98759	Spinocerebellar ataxia type 17	ORPHAnet
0‑L	98760	Spinocerebellar ataxia type 8	ORPHAnet
0‑L	98761	Spinocerebellar ataxia type 10	ORPHAnet
0‑L	98762	Spinocerebellar ataxia type 12	ORPHAnet
0‑L	98763	Spinocerebellar ataxia type 14	ORPHAnet
0‑L	98764	Spinocerebellar ataxia type 27	ORPHAnet
0‑L	98765	Spinocerebellar ataxia type 4	ORPHAnet
0‑L	98766	Spinocerebellar ataxia type 5	ORPHAnet
0‑L	98767	Spinocerebellar ataxia type 11	ORPHAnet
0‑L	98768	Spinocerebellar ataxia type 13	ORPHAnet
0‑L	98769	Spinocerebellar ataxia type 15/16	ORPHAnet
0‑L	98771	Spinocerebellar ataxia type 18	ORPHAnet
0‑L	98772	Spinocerebellar ataxia type 19/22	ORPHAnet
0‑L	98773	Spinocerebellar ataxia type 21	ORPHAnet
0‑L	98784	Autosomal dominant nocturnal frontal lobe epilepsy	ORPHAnet
0‑L	98791	Alpha-thalassemia-intellectual disability syndrome linked to chromosome 16	ORPHAnet
0‑L	98793	Prader-Willi syndrome due to paternal 15q11q13 deletion	ORPHAnet
0‑L	98794	Angelman syndrome due to maternal 15q11q13 deletion	ORPHAnet
0‑L	98795	Angelman syndrome due to paternal uniparental disomy of chromosome 15	ORPHAnet
0‑L	98797	Isochromosomy Yp	ORPHAnet
0‑L	98798	Isochromosomy Yq	ORPHAnet
0‑L	98805	Primary dystonia, DYT4 type	ORPHAnet
0‑L	98806	Primary dystonia, DYT6 type	ORPHAnet
0‑L	98807	Primary dystonia, DYT13 type	ORPHAnet
0‑L	98808	Autosomal dominant dopa-responsive dystonia	ORPHAnet
0‑L	98809	Paroxysmal kinesigenic dyskinesia	ORPHAnet
0‑L	98810	Paroxysmal non-kinesigenic dyskinesia	ORPHAnet
0‑L	98811	Paroxysmal exertion-induced dyskinesia	ORPHAnet
0‑L	98813	Hypohidrotic ectodermal dysplasia with immunodeficiency	ORPHAnet
0‑L	98815	Benign childhood occipital epilepsy, Panayiotopoulos type	ORPHAnet
0‑L	98816	Benign childhood occipital epilepsy, Gastaut type	ORPHAnet
0‑L	98818	Landau-Kleffner syndrome	ORPHAnet
0‑L	98819	Familial temporal lobe epilepsy	ORPHAnet
0‑L	98820	Familial focal epilepsy with variable foci	ORPHAnet
0‑L	98823	Chronic myelomonocytic leukemia	ORPHAnet
0‑L	98824	Atypical chronic myeloid leukemia	ORPHAnet
0‑L	98825	Unclassified myelodysplastic/myeloproliferative disease	ORPHAnet
0‑L	98826	Refractory anemia	ORPHAnet
0‑L	98827	Unclassified myelodysplastic syndrome	ORPHAnet
0‑L	98829	Acute myeloid leukemia with abnormal bone marrow eosinophils inv(16)(p13q22) or t(16;16)(p13;q22)	ORPHAnet
0‑L	98831	Acute myeloid leukemia with 11q23 abnormalities	ORPHAnet
0‑L	98832	Acute myeloid leukemia with minimal differentiation	ORPHAnet
0‑L	98833	Acute myeloblastic leukemia without maturation	ORPHAnet
0‑L	98834	Acute myeloblastic leukemia with maturation	ORPHAnet
0‑L	98835	Acute undifferentiated leukemia	ORPHAnet
0‑L	98838	Primary mediastinal large B-cell lymphoma	ORPHAnet
0‑L	98839	Intravascular large B-cell lymphoma	ORPHAnet
0‑L	98841	Anaplastic large cell lymphoma	ORPHAnet
0‑L	98842	Lymphomatoid papulosis	ORPHAnet
0‑L	98843	Classic Hodgkin lymphoma, nodular sclerosis type	ORPHAnet
0‑L	98844	Classic Hodgkin lymphoma, mixed cellularity type	ORPHAnet
0‑L	98845	Classic Hodgkin lymphoma, lymphocyte-rich type	ORPHAnet
0‑L	98846	Classic Hodgkin lymphoma, lymphocyte-depleted type	ORPHAnet
0‑L	98848	Indolent systemic mastocytosis	ORPHAnet
0‑L	98849	Systemic mastocytosis with associated hematologic neoplasm	ORPHAnet
0‑L	98850	Aggressive systemic mastocytosis	ORPHAnet
0‑L	98851	Mast cell leukemia	ORPHAnet
0‑L	98852	Desquamative interstitial pneumonia	ORPHAnet
0‑L	98853	Autosomal dominant Emery-Dreifuss muscular dystrophy	ORPHAnet
0‑L	98855	Autosomal recessive Emery-Dreifuss muscular dystrophy	ORPHAnet
0‑L	98856	Charcot-Marie-Tooth disease type 2B1	ORPHAnet
0‑L	98863	X-linked Emery-Dreifuss muscular dystrophy	ORPHAnet
0‑L	98868	Southeast Asian ovalocytosis	ORPHAnet
0‑L	98869	Congenital dyserythropoietic anemia type I	ORPHAnet
0‑L	98870	Congenital dyserythropoietic anemia type III	ORPHAnet
0‑L	98871	Transient erythroblastopenia of childhood	ORPHAnet
0‑L	98872	Primary acquired pure red cell aplasia	ORPHAnet
0‑L	98873	Congenital dyserythropoietic anemia type II	ORPHAnet
0‑L	98878	Hemophilia A	ORPHAnet
0‑L	98879	Hemophilia B	ORPHAnet
0‑L	98880	Familial afibrinogenemia	ORPHAnet
0‑L	98881	Familial dysfibrinogenemia	ORPHAnet
0‑L	98885	Bleeding diathesis due to glycoprotein VI deficiency	ORPHAnet
0‑L	98886	Bleeding diathesis due to integrin alpha2-beta1 deficiency	ORPHAnet
0‑L	98889	Bilateral perisylvian polymicrogyria	ORPHAnet
0‑L	98890	Early-onset X-linked optic atrophy	ORPHAnet
0‑L	98892	Periventricular nodular heterotopia	ORPHAnet
0‑L	98893	Congenital muscular dystrophy type 1B	ORPHAnet
0‑L	98895	Becker muscular dystrophy	ORPHAnet
0‑L	98896	Duchenne muscular dystrophy	ORPHAnet
0‑L	98897	Oculopharyngodistal myopathy	ORPHAnet
0‑L	98902	Amish nemaline myopathy	ORPHAnet
0‑L	98904	Congenital myopathy with excess of thin filaments	ORPHAnet
0‑L	98905	Congenital multicore myopathy with external ophthalmoplegia	ORPHAnet
0‑L	98907	Neutral lipid storage disease with ichthyosis	ORPHAnet
0‑L	98908	Neutral lipid storage myopathy	ORPHAnet
0‑L	98909	Desminopathy	ORPHAnet
0‑L	98911	Distal myotilinopathy	ORPHAnet
0‑L	98912	Late-onset distal myopathy, Markesbery-Griggs type	ORPHAnet
0‑L	98913	Postsynaptic congenital myasthenic syndromes	ORPHAnet
0‑L	98914	Presynaptic congenital myasthenic syndromes	ORPHAnet
0‑L	98915	Synaptic congenital myasthenic syndromes	ORPHAnet
0‑L	98916	Acute inflammatory demyelinating polyradiculoneuropathy	ORPHAnet
0‑L	98917	Acute motor and sensory axonal neuropathy	ORPHAnet
0‑L	98918	Acute motor axonal neuropathy	ORPHAnet
0‑L	98919	Miller Fisher syndrome	ORPHAnet
0‑L	98920	Spinal muscular atrophy with respiratory distress type 1	ORPHAnet
0‑L	98922	Blake pouch cyst	ORPHAnet
0‑L	98933	Multiple system atrophy, parkinsonian type	ORPHAnet
0‑L	98934	Huntington disease-like 2	ORPHAnet
0‑L	98938	Colobomatous microphthalmia	ORPHAnet
0‑L	98942	Coloboma of choroid and retina	ORPHAnet
0‑L	98943	Coloboma of eye lens	ORPHAnet
0‑L	98944	Coloboma of iris	ORPHAnet
0‑L	98945	Coloboma of macula	ORPHAnet
0‑L	98946	Coloboma of eyelid	ORPHAnet
0‑L	98947	Coloboma of optic disc	ORPHAnet
0‑L	98948	Congenital symblepharon	ORPHAnet
0‑L	98949	Complete cryptophthalmia	ORPHAnet
0‑L	98950	Partial cryptophthalmia	ORPHAnet
0‑L	98951	Inverse Marcus-Gunn phenomenon	ORPHAnet
0‑L	98954	Meesmann corneal dystrophy	ORPHAnet
0‑L	98955	Lisch epithelial corneal dystrophy	ORPHAnet
0‑L	98956	Epithelial basement membrane dystrophy	ORPHAnet
0‑L	98957	Gelatinous drop-like corneal dystrophy	ORPHAnet
0‑L	98958	Climatic droplet keratopathy	ORPHAnet
0‑L	98959	Subepithelial mucinous corneal dystrophy	ORPHAnet
0‑L	98960	Thiel-Behnke corneal dystrophy	ORPHAnet
0‑L	98961	Reis-Bücklers corneal dystrophy	ORPHAnet
0‑L	98962	Granular corneal dystrophy type I	ORPHAnet
0‑L	98963	Granular corneal dystrophy type II	ORPHAnet
0‑L	98964	Lattice corneal dystrophy type I	ORPHAnet
0‑L	98967	Schnyder corneal dystrophy	ORPHAnet
0‑L	98969	Macular corneal dystrophy	ORPHAnet
0‑L	98970	Fleck corneal dystrophy	ORPHAnet
0‑L	98971	Posterior amorphous corneal dystrophy	ORPHAnet
0‑L	98972	Central cloudy dystrophy of François	ORPHAnet
0‑L	98973	Posterior polymorphous corneal dystrophy	ORPHAnet
0‑L	98974	Fuchs endothelial corneal dystrophy	ORPHAnet
0‑L	98975	Congenital hereditary endothelial dystrophy type I	ORPHAnet
0‑L	98976	Congenital glaucoma	ORPHAnet
0‑L	98977	Juvenile glaucoma	ORPHAnet
0‑L	98978	Axenfeld anomaly	ORPHAnet
0‑L	98979	Chandler syndrome	ORPHAnet
0‑L	98980	Cogan-Reese syndrome	ORPHAnet
0‑L	98981	Essential iris atrophy	ORPHAnet
0‑L	98984	Pulverulent cataract	ORPHAnet
0‑L	98985	Early-onset sutural cataract	ORPHAnet
0‑L	98988	Early-onset anterior polar cataract	ORPHAnet
0‑L	98989	Cerulean cataract	ORPHAnet
0‑L	98990	Coralliform cataract	ORPHAnet
0‑L	98991	Early-onset nuclear cataract	ORPHAnet
0‑L	98992	Early-onset partial cataract	ORPHAnet
0‑L	98993	Early-onset posterior polar cataract	ORPHAnet
0‑L	98994	Total early-onset cataract	ORPHAnet
0‑L	98995	Early-onset zonular cataract	ORPHAnet
0‑L	99000	Adult-onset foveomacular vitelliform dystrophy	ORPHAnet
0‑L	99001	Butterfly-shaped pigment dystrophy	ORPHAnet
0‑L	99002	Reticular dystrophy of the retinal pigment epithelium	ORPHAnet
0‑L	99003	Multifocal pattern dystrophy simulating fundus flavimaculatus	ORPHAnet
0‑L	99004	Fundus pulverulentus	ORPHAnet
0‑L	99013	Spastic paraplegia type 7	ORPHAnet
0‑L	99014	X-linked Charcot-Marie-Tooth disease type 5	ORPHAnet
0‑L	99015	Spastic paraplegia type 2	ORPHAnet
0‑L	99027	Adult-onset autosomal dominant leukodystrophy	ORPHAnet
0‑L	99042	Congenitally uncorrected transposition of the great arteries with coarctation	ORPHAnet
0‑L	99043	Double outlet right ventricle with subaortic or doubly committed ventricular septal defect with pulmonary stenosis	ORPHAnet
0‑L	99045	Double outlet right ventricle with subpulmonary ventricular septal defect	ORPHAnet
0‑L	99046	Double outlet right ventricle with non-committed subpulmonary ventricular septal defect	ORPHAnet
0‑L	99048	Pulmonary valve agenesis-intact ventricular septum-persistent ductus arteriosus syndrome	ORPHAnet
0‑L	99049	Pulmonary artery coming from patent ductus arteriosus	ORPHAnet
0‑L	99050	Abnormal origin of right or left pulmonary artery from the aorta	ORPHAnet
0‑L	99051	Discrete fixed membranous subaortic stenosis	ORPHAnet
0‑L	99052	Discrete fibromuscular subaortic stenosis	ORPHAnet
0‑L	99053	Tunnel subaortic stenosis	ORPHAnet
0‑L	99054	Valvular pulmonary stenosis	ORPHAnet
0‑L	99055	Congenital anomaly of the tricuspid valve chordae	ORPHAnet
0‑L	99056	Parachute tricuspid valve	ORPHAnet
0‑L	99057	Congenital mitral stenosis	ORPHAnet
0‑L	99058	Hypoplasia of the mitral valve annulus	ORPHAnet
0‑L	99059	Congenital supravalvular mitral ring	ORPHAnet
0‑L	99060	Congenital unguarded mitral orifice	ORPHAnet
0‑L	99061	Accessory mitral valve tissue	ORPHAnet
0‑L	99062	Mitral valve agenesis	ORPHAnet
0‑L	99063	Shone complex	ORPHAnet
0‑L	99064	Straddling and/or overriding mitral valve	ORPHAnet
0‑L	99067	Complete atrioventricular septal defect with ventricular hypoplasia	ORPHAnet
0‑L	99068	Complete atrioventricular septal defect-tetralogy of Fallot	ORPHAnet
0‑L	99070	Aorto-right ventricular tunnel	ORPHAnet
0‑L	99071	Aorto-left ventricular tunnel	ORPHAnet
0‑L	99072	Congenital patent ductus arteriosus aneurysm	ORPHAnet
0‑L	99075	Encircling double aortic arch	ORPHAnet
0‑L	99076	Persistent fifth aortic arch	ORPHAnet
0‑L	99077	Kommerell diverticulum	ORPHAnet
0‑L	99078	Neuhauser anomaly	ORPHAnet
0‑L	99079	Cervical aortic arch	ORPHAnet
0‑L	99081	Right aortic arch	ORPHAnet
0‑L	99082	Dysphagia lusoria	ORPHAnet
0‑L	99083	Pulmonary artery hypoplasia	ORPHAnet
0‑L	99084	Peripheral pulmonary stenosis	ORPHAnet
0‑L	99087	Coronary ostial stenosis or atresia	ORPHAnet
0‑L	99089	Abnormal number of coronary ostia	ORPHAnet
0‑L	99090	Malposition of a coronary ostium	ORPHAnet
0‑L	99092	Interventricular septum aneurysm	ORPHAnet
0‑L	99094	Laubry-Pezzi syndrome	ORPHAnet
0‑L	99095	Congenital Gerbode defect	ORPHAnet
0‑L	99098	Cor triatriatum dexter	ORPHAnet
0‑L	99099	Cor triatriatum sinister	ORPHAnet
0‑L	99100	Juxtaposition of the atrial appendages	ORPHAnet
0‑L	99101	Ectasia of the right atrial appendage	ORPHAnet
0‑L	99102	Ectasia of the left atrial appendage	ORPHAnet
0‑L	99103	Atrial septal defect, ostium secundum type	ORPHAnet
0‑L	99104	Atrial septal defect, coronary sinus type	ORPHAnet
0‑L	99105	Atrial septal defect, sinus venosus type	ORPHAnet
0‑L	99106	Atrial septal defect, ostium primum type	ORPHAnet
0‑L	99107	Atrial septal aneurysm	ORPHAnet
0‑L	99109	Persistent left superior vena cava connecting through coronary sinus to left-sided atrium	ORPHAnet
0‑L	99110	Right superior vena cava connecting to left-sided atrium	ORPHAnet
0‑L	99111	Persistent left superior vena cava connecting to the roof of left-sided atrium	ORPHAnet
0‑L	99112	Absence of innominate vein	ORPHAnet
0‑L	99113	Subaortic course of innominate vein	ORPHAnet
0‑L	99114	Agenesis of the superior vena cava	ORPHAnet
0‑L	99117	Coronary sinus stenosis	ORPHAnet
0‑L	99118	Coronary sinus atresia	ORPHAnet
0‑L	99119	Right inferior vena cava connecting to left-sided atrium	ORPHAnet
0‑L	99120	Persistent eustachian valve	ORPHAnet
0‑L	99121	Azygos continuation of the inferior vena cava	ORPHAnet
0‑L	99122	Congenital stenosis of the inferior vena cava	ORPHAnet
0‑L	99123	Inferior vena cava interruption without azygos continuation	ORPHAnet
0‑L	99124	Congenital partial pulmonary venous return anomaly	ORPHAnet
0‑L	99125	Congenital total pulmonary venous return anomaly	ORPHAnet
0‑L	99129	Congenital complete agenesis of pericardium	ORPHAnet
0‑L	99130	Congenital partial agenesis of pericardium	ORPHAnet
0‑L	99131	Pleuro-pericardial cyst	ORPHAnet
0‑L	99135	6-phosphogluconate dehydrogenase deficiency	ORPHAnet
0‑L	99138	Hemolytic anemia due to erythrocyte adenosine deaminase overproduction	ORPHAnet
0‑L	99139	Unstable hemoglobin disease	ORPHAnet
0‑L	99141	Lymphedema-posterior choanal atresia syndrome	ORPHAnet
0‑L	99147	Acquired von Willebrand syndrome	ORPHAnet
0‑L	99169	Epiblepharon	ORPHAnet
0‑L	99170	Tarsal kink syndrome	ORPHAnet
0‑L	99171	Isolated congenital ectropion	ORPHAnet
0‑L	99172	Euryblepharon	ORPHAnet
0‑L	99176	Congenital eyelid retraction	ORPHAnet
0‑L	99177	Isolated distichiasis	ORPHAnet
0‑L	99179	Kandori fleck retina	ORPHAnet
0‑L	99226	Monosomy X	ORPHAnet
0‑L	99228	Mosaic monosomy X	ORPHAnet
0‑L	99324	Paternal uniparental disomy of chromosome 13	ORPHAnet
0‑L	99329	48,XYYY syndrome	ORPHAnet
0‑L	99330	49,XYYYY syndrome	ORPHAnet
0‑L	99361	Familial medullary thyroid carcinoma	ORPHAnet
0‑L	99413	Turner syndrome due to structural X chromosome anomalies	ORPHAnet
0‑L	99429	Complete androgen insensitivity syndrome	ORPHAnet
0‑L	99642	Spondyloepimetaphyseal dysplasia, Handigodu type	ORPHAnet
0‑L	99646	Metaphyseal chondromatosis with D-2-hydroxyglutaric aciduria	ORPHAnet
0‑L	99647	Cheirospondyloenchondromatosis	ORPHAnet
0‑L	99657	Primary dystonia, DYT2 type	ORPHAnet
0‑L	99672	Fried's tooth and nail syndrome	ORPHAnet
0‑L	99688	Dermotrichic syndrome	ORPHAnet
0‑L	99701	Mesial temporal lobe epilepsy with hippocampal sclerosis	ORPHAnet
0‑L	99704	Early-onset obesity-hyperphagia-severe developmental delay syndrome	ORPHAnet
0‑L	99710	Punctate acrokeratoderma freckle-like pigmentation	ORPHAnet
0‑L	99718	Leber plus disease	ORPHAnet
0‑L	99725	Pituitary gigantism	ORPHAnet
0‑L	99731	Isolated sulfite oxidase deficiency	ORPHAnet
0‑L	99732	Sulfite oxidase deficiency due to molybdenum cofactor deficiency	ORPHAnet
0‑L	99734	Myotonia fluctuans	ORPHAnet
0‑L	99735	Myotonia permanens	ORPHAnet
0‑L	99736	Acetazolamide-responsive myotonia	ORPHAnet
0‑L	99741	King-Denborough syndrome	ORPHAnet
0‑L	99742	Amish lethal microcephaly	ORPHAnet
0‑L	99745	Typhoid	ORPHAnet
0‑L	99748	Pontiac fever	ORPHAnet
0‑L	99749	Kostmann syndrome	ORPHAnet
0‑L	99750	Atypical progressive supranuclear palsy syndrome	ORPHAnet
0‑L	99756	Alveolar rhabdomyosarcoma	ORPHAnet
0‑L	99757	Embryonal rhabdomyosarcoma	ORPHAnet
0‑L	99771	Bifid uvula	ORPHAnet
0‑L	99772	Cleft velum	ORPHAnet
0‑L	99776	Mosaic trisomy 9	ORPHAnet
0‑L	99789	Dentin dysplasia type I	ORPHAnet
0‑L	99791	Dentin dysplasia type II	ORPHAnet
0‑L	99792	Dentin dysplasia-sclerotic bones syndrome	ORPHAnet
0‑L	99796	Subcortical band heterotopia	ORPHAnet
0‑L	99797	Anodontia	ORPHAnet
0‑L	99798	Oligodontia	ORPHAnet
0‑L	99802	Hemimegalencephaly	ORPHAnet
0‑L	99803	Haddad syndrome	ORPHAnet
0‑L	99806	Oculootodental syndrome	ORPHAnet
0‑L	99807	PEHO-like syndrome	ORPHAnet
0‑L	99810	Familial porencephaly	ORPHAnet
0‑L	99811	Neuronal intestinal pseudoobstruction	ORPHAnet
0‑L	99812	LIG4 syndrome	ORPHAnet
0‑L	99818	Turcot syndrome with polyposis	ORPHAnet
0‑L	99819	Familial gestational hyperthyroidism	ORPHAnet
0‑L	99824	Lassa fever	ORPHAnet
0‑L	99825	Nipah virus disease	ORPHAnet
0‑L	99826	Marburg hemorrhagic fever	ORPHAnet
0‑L	99827	Crimean-Congo hemorrhagic fever	ORPHAnet
0‑L	99828	Dengue fever	ORPHAnet
0‑L	99829	Yellow fever	ORPHAnet
0‑L	99832	Resistance to thyrotropin-releasing hormone syndrome	ORPHAnet
0‑L	99842	Leukocyte adhesion deficiency type I	ORPHAnet
0‑L	99843	Leukocyte adhesion deficiency type II	ORPHAnet
0‑L	99844	Leukocyte adhesion deficiency type III	ORPHAnet
0‑L	99845	Genetic recurrent myoglobinuria	ORPHAnet
0‑L	99846	Autosomal dominant myoglobinuria	ORPHAnet
0‑L	99849	Glycogen storage disease due to muscle beta-enolase deficiency	ORPHAnet
0‑L	99852	Ravine syndrome	ORPHAnet
0‑L	99853	Ovarioleukodystrophy	ORPHAnet
0‑L	99854	Cree leukoencephalopathy	ORPHAnet
0‑L	99856	Primary syringomyelia	ORPHAnet
0‑L	99857	Secondary syringomyelia	ORPHAnet
0‑L	99858	Idiopathic syringomyelia	ORPHAnet
0‑L	99860	Precursor B-cell acute lymphoblastic leukemia	ORPHAnet
0‑L	99861	Precursor T-cell acute lymphoblastic leukemia	ORPHAnet
0‑L	99865	Spermatocytic seminoma	ORPHAnet
0‑L	99867	Thymoma	ORPHAnet
0‑L	99868	Thymic carcinoma	ORPHAnet
0‑L	99869	Thymic neuroendocrine carcinoma	ORPHAnet
0‑L	99879	Familial isolated hyperparathyroidism	ORPHAnet
0‑L	99880	Hyperparathyroidism-jaw tumor syndrome	ORPHAnet
0‑L	99885	Isolated permanent neonatal diabetes mellitus	ORPHAnet
0‑L	99886	Transient neonatal diabetes mellitus	ORPHAnet
0‑L	99887	Acute megakaryoblastic leukemia in Down syndrome	ORPHAnet
0‑L	99889	Cushing syndrome due to ectopic ACTH secretion	ORPHAnet
0‑L	99898	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR1 deficiency	ORPHAnet
0‑L	99901	Acyl-CoA dehydrogenase 9 deficiency	ORPHAnet
0‑L	99903	Spirillary rat-bite fever	ORPHAnet
0‑L	99905	Streptobacillary rat-bite fever	ORPHAnet
0‑L	99906	Farmer's lung disease	ORPHAnet
0‑L	99907	House allergic alveolitis	ORPHAnet
0‑L	99908	Pigeon-breeder lung disease	ORPHAnet
0‑L	99912	Malignant dysgerminomatous germ cell tumor of the ovary	ORPHAnet
0‑L	99914	Gynandroblastoma	ORPHAnet
0‑L	99915	Maligant granulosa cell tumor of the ovary	ORPHAnet
0‑L	99916	Malignant Sertoli-Leydig cell tumor of the ovary	ORPHAnet
0‑L	99917	Theca steroid-producing cell malignant tumor of ovary, not further specified	ORPHAnet
0‑L	99918	Streptococcal toxic-shock syndrome	ORPHAnet
0‑L	99919	Staphylococcal toxic-shock syndrome	ORPHAnet
0‑L	99920	Acute graft versus host disease	ORPHAnet
0‑L	99921	Chronic graft versus host disease	ORPHAnet
0‑L	99922	Ocular cicatricial pemphigoid	ORPHAnet
0‑L	99925	Invasive mole	ORPHAnet
0‑L	99926	Gestational choriocarcinoma	ORPHAnet
0‑L	99927	Hydatidiform mole	ORPHAnet
0‑L	99928	Placental site trophoblastic tumor	ORPHAnet
0‑L	99930	Secondary pulmonary hemosiderosis	ORPHAnet
0‑L	99931	Idiopathic pulmonary hemosiderosis	ORPHAnet
0‑L	99932	Heiner syndrome	ORPHAnet
0‑L	99933	Pleuropulmonary blastoma type 1	ORPHAnet
0‑L	99934	Pleuropulmonary blastoma type 2	ORPHAnet
0‑L	99935	Pleuropulmonary blastoma type 3	ORPHAnet
0‑L	99936	Autosomal dominant Charcot-Marie-Tooth disease type 2B	ORPHAnet
0‑L	99937	Autosomal dominant Charcot-Marie-Tooth disease type 2C	ORPHAnet
0‑L	99938	Autosomal dominant Charcot-Marie-Tooth disease type 2D	ORPHAnet
0‑L	99939	Autosomal dominant Charcot-Marie-Tooth disease type 2E	ORPHAnet
0‑L	99940	Autosomal dominant Charcot-Marie-Tooth disease type 2F	ORPHAnet
0‑L	99941	Autosomal dominant Charcot-Marie-Tooth disease type 2G	ORPHAnet
0‑L	99942	Autosomal dominant Charcot-Marie-Tooth disease type 2I	ORPHAnet
0‑L	99943	Autosomal dominant Charcot-Marie-Tooth disease type 2J	ORPHAnet
0‑L	99944	Autosomal dominant Charcot-Marie-Tooth disease type 2K	ORPHAnet
0‑L	99945	Autosomal dominant Charcot-Marie-Tooth disease type 2L	ORPHAnet
0‑L	99946	Autosomal dominant Charcot-Marie-Tooth disease type 2A1	ORPHAnet
0‑L	99947	Autosomal dominant Charcot-Marie-Tooth disease type 2A2	ORPHAnet
0‑L	99948	Charcot-Marie-Tooth disease type 4A	ORPHAnet
0‑L	99949	Charcot-Marie-Tooth disease type 4C	ORPHAnet
0‑L	99950	Charcot-Marie-Tooth disease type 4D	ORPHAnet
0‑L	99951	Charcot-Marie-Tooth disease type 4E	ORPHAnet
0‑L	99952	Charcot-Marie-Tooth disease type 4F	ORPHAnet
0‑L	99953	Charcot-Marie-Tooth disease type 4G	ORPHAnet
0‑L	99954	Charcot-Marie-Tooth disease type 4H	ORPHAnet
0‑L	99955	Charcot-Marie-Tooth disease type 4B1	ORPHAnet
0‑L	99956	Charcot-Marie-Tooth disease type 4B2	ORPHAnet
0‑L	99960	Benign recurrent intrahepatic cholestasis type 1	ORPHAnet
0‑L	99961	Benign recurrent intrahepatic cholestasis type 2	ORPHAnet
0‑L	99965	O'Sullivan-McLeod syndrome	ORPHAnet
0‑L	99966	Atypical teratoid rhabdoid tumor	ORPHAnet
0‑L	99967	Myxoid/round cell liposarcoma	ORPHAnet
0‑L	99969	Pleomorphic liposarcoma	ORPHAnet
0‑L	99970	Dedifferentiated liposarcoma	ORPHAnet
0‑L	99971	Well-differentiated liposarcoma	ORPHAnet
0‑L	99976	Adenocarcinoma of the esophagus	ORPHAnet
0‑L	99977	Squamous cell carcinoma of the esophagus	ORPHAnet
0‑L	99978	Klatskin tumor	ORPHAnet
0‑L	99981	Apnea of prematurity	ORPHAnet
0‑L	99989	Intermediate DEND syndrome	ORPHAnet
0‑L	99990	Brill-Zinsser disease	ORPHAnet
0‑L	99991	Relapsing epidemic typhus	ORPHAnet
0‑L	99994	Complex regional pain syndrome type 2	ORPHAnet
0‑L	99995	Complex regional pain syndrome type 1	ORPHAnet
0‑L	100000	Reticular perineurioma	ORPHAnet
0‑L	100001	Sclerosing perineurioma	ORPHAnet
0‑L	100002	Extraneural perineurioma	ORPHAnet
0‑L	100003	Intraneural perineurioma	ORPHAnet
0‑L	100006	ABeta amyloidosis, Dutch type	ORPHAnet
0‑L	100008	ACys amyloidosis	ORPHAnet
0‑L	100011	Lissencephaly with cerebellar hypoplasia type A	ORPHAnet
0‑L	100012	Lissencephaly with cerebellar hypoplasia type B	ORPHAnet
0‑L	100013	Lissencephaly with cerebellar hypoplasia type C	ORPHAnet
0‑L	100014	Lissencephaly with cerebellar hypoplasia type D	ORPHAnet
0‑L	100015	Lissencephaly with cerebellar hypoplasia type E	ORPHAnet
0‑L	100016	Lissencephaly with cerebellar hypoplasia type F	ORPHAnet
0‑L	100019	Refractory anemia with excess blasts type 1	ORPHAnet
0‑L	100020	Refractory anemia with excess blasts type 2	ORPHAnet
0‑L	100021	Primary plasmacytoma of the bone	ORPHAnet
0‑L	100022	Extramedullary soft tissue plasmacytoma	ORPHAnet
0‑L	100024	Mu-heavy chain disease	ORPHAnet
0‑L	100025	Alpha-heavy chain disease	ORPHAnet
0‑L	100026	Gamma-heavy chain disease	ORPHAnet
0‑L	100031	Hypoplastic amelogenesis imperfecta	ORPHAnet
0‑L	100032	Hypocalcified amelogenesis imperfecta	ORPHAnet
0‑L	100033	Hypomaturation amelogenesis imperfecta	ORPHAnet
0‑L	100034	Hypomaturation-hypoplastic amelogenesis imperfecta with taurodontism	ORPHAnet
0‑L	100035	Solitary necrotic nodule of the liver	ORPHAnet
0‑L	100043	Autosomal dominant intermediate Charcot-Marie-Tooth disease type A	ORPHAnet
0‑L	100044	Autosomal dominant intermediate Charcot-Marie-Tooth disease type B	ORPHAnet
0‑L	100045	Autosomal dominant intermediate Charcot-Marie-Tooth disease type C	ORPHAnet
0‑L	100046	Autosomal dominant intermediate Charcot-Marie-Tooth disease type D	ORPHAnet
0‑L	100047	Esophageal duplication cyst	ORPHAnet
0‑L	100048	Tubular duplication of the esophagus	ORPHAnet
0‑L	100050	Hereditary angioedema type 1	ORPHAnet
0‑L	100051	Hereditary angioedema type 2	ORPHAnet
0‑L	100054	F12-related hereditary angioedema with normal C1Inh	ORPHAnet
0‑L	100055	Acquired angioedema type 2	ORPHAnet
0‑L	100056	Acquired angioedema type 1	ORPHAnet
0‑L	100057	Renin-angiotensin-aldosterone system-blocker-induced angioedema	ORPHAnet
0‑L	100067	Waterhouse-Friderichsen syndrome	ORPHAnet
0‑L	100069	Semantic dementia	ORPHAnet
0‑L	100070	Progressive non-fluent aphasia	ORPHAnet
0‑L	100071	Mosaic trisomy 3	ORPHAnet
0‑L	100073	Neurogenic thoracic outlet syndrome	ORPHAnet
0‑L	100075	Neuroendocrine tumor of stomach	ORPHAnet
0‑L	100078	Ileal neuroendocrine tumor	ORPHAnet
0‑L	100079	Neuroendocrine neoplasm of appendix	ORPHAnet
0‑L	100080	Neuroendocrine tumor of the colon	ORPHAnet
0‑L	100081	Neuroendocrine tumor of the rectum	ORPHAnet
0‑L	100082	Neuroendocrine tumor of anal canal	ORPHAnet
0‑L	100083	Laryngeal neuroendocrine tumor	ORPHAnet
0‑L	100084	Middle ear neuroendocrine tumor	ORPHAnet
0‑L	100085	Primary hepatic neuroendocrine carcinoma	ORPHAnet
0‑L	100086	Gallbladder neuroendocrine tumor	ORPHAnet
0‑L	100093	Carcinoid syndrome	ORPHAnet
0‑L	100924	Porphyria due to ALA dehydratase deficiency	ORPHAnet
0‑L	100973	FRAXE intellectual disability	ORPHAnet
0‑L	100974	FRAXF syndrome	ORPHAnet
0‑L	100976	Bathing suit ichthyosis	ORPHAnet
0‑L	100978	Cloverleaf skull-asphyxiating thoracic dysplasia syndrome	ORPHAnet
0‑L	100984	Autosomal dominant spastic paraplegia type 3	ORPHAnet
0‑L	100985	Autosomal dominant spastic paraplegia type 4	ORPHAnet
0‑L	100986	Autosomal recessive spastic paraplegia type 5A	ORPHAnet
0‑L	100988	Autosomal dominant spastic paraplegia type 6	ORPHAnet
0‑L	100989	Autosomal dominant spastic paraplegia type 8	ORPHAnet
0‑L	100991	Autosomal dominant spastic paraplegia type 10	ORPHAnet
0‑L	100993	Autosomal dominant spastic paraplegia type 12	ORPHAnet
0‑L	100994	Autosomal dominant spastic paraplegia type 13	ORPHAnet
0‑L	100995	Autosomal recessive spastic paraplegia type 14	ORPHAnet
0‑L	100996	Autosomal recessive spastic paraplegia type 15	ORPHAnet
0‑L	100997	X-linked spastic paraplegia type 16	ORPHAnet
0‑L	100998	Autosomal dominant spastic paraplegia type 17	ORPHAnet
0‑L	100999	Autosomal dominant spastic paraplegia type 19	ORPHAnet
0‑L	101000	Autosomal recessive spastic paraplegia type 20	ORPHAnet
0‑L	101001	Autosomal recessive spastic paraplegia type 21	ORPHAnet
0‑L	101003	Autosomal recessive spastic paraplegia type 23	ORPHAnet
0‑L	101004	Autosomal recessive spastic paraplegia type 24	ORPHAnet
0‑L	101005	Autosomal recessive spastic paraplegia type 25	ORPHAnet
0‑L	101006	Autosomal recessive spastic paraplegia type 26	ORPHAnet
0‑L	101007	Autosomal recessive spastic paraplegia type 27	ORPHAnet
0‑L	101008	Autosomal recessive spastic paraplegia type 28	ORPHAnet
0‑L	101009	Autosomal dominant spastic paraplegia type 29	ORPHAnet
0‑L	101010	Autosomal spastic paraplegia type 30	ORPHAnet
0‑L	101011	Autosomal dominant spastic paraplegia type 31	ORPHAnet
0‑L	101016	Romano-Ward syndrome	ORPHAnet
0‑L	101023	Cleft hard palate	ORPHAnet
0‑L	101028	Transaldolase deficiency	ORPHAnet
0‑L	101029	Sub-cortical nodular heterotopia	ORPHAnet
0‑L	101030	Subependymal nodular heterotopia	ORPHAnet
0‑L	101039	Female restricted epilepsy with intellectual disability	ORPHAnet
0‑L	101041	Familial hypofibrinogenemia	ORPHAnet
0‑L	101043	Congenital aortic valve dysplasia	ORPHAnet
0‑L	101046	Autosomal dominant epilepsy with auditory features	ORPHAnet
0‑L	101049	Familial hypocalciuric hypercalcemia type 2	ORPHAnet
0‑L	101050	Familial hypocalciuric hypercalcemia type 3	ORPHAnet
0‑L	101063	Situs inversus totalis	ORPHAnet
0‑L	101068	Congenital stromal corneal dystrophy	ORPHAnet
0‑L	101070	Bilateral frontoparietal polymicrogyria	ORPHAnet
0‑L	101071	Unilateral hemispheric polymicrogyria	ORPHAnet
0‑L	101075	X-linked Charcot-Marie-Tooth disease type 1	ORPHAnet
0‑L	101076	X-linked Charcot-Marie-Tooth disease type 2	ORPHAnet
0‑L	101077	X-linked Charcot-Marie-Tooth disease type 3	ORPHAnet
0‑L	101078	X-linked Charcot-Marie-Tooth disease type 4	ORPHAnet
0‑L	101081	Charcot-Marie-Tooth disease type 1A	ORPHAnet
0‑L	101082	Charcot-Marie-Tooth disease type 1B	ORPHAnet
0‑L	101083	Charcot-Marie-Tooth disease type 1C	ORPHAnet
0‑L	101084	Charcot-Marie-Tooth disease type 1D	ORPHAnet
0‑L	101085	Charcot-Marie-Tooth disease type 1F	ORPHAnet
0‑L	101088	X-linked hyper-IgM syndrome	ORPHAnet
0‑L	101089	Hyper-IgM syndrome type 2	ORPHAnet
0‑L	101090	Hyper-IgM syndrome type 3	ORPHAnet
0‑L	101091	Hyper-IgM syndrome type 4	ORPHAnet
0‑L	101092	Hyper-IgM syndrome type 5	ORPHAnet
0‑L	101096	Aregenerative anemia	ORPHAnet
0‑L	101097	Autosomal recessive Charcot-Marie-Tooth disease with hoarseness	ORPHAnet
0‑L	101101	Charcot-Marie-Tooth disease type 2B2	ORPHAnet
0‑L	101102	Charcot-Marie-Tooth disease type 2H	ORPHAnet
0‑L	101104	Marin-Amat syndrome	ORPHAnet
0‑L	101108	Spinocerebellar ataxia type 23	ORPHAnet
0‑L	101109	Spinocerebellar ataxia type 28	ORPHAnet
0‑L	101110	Spinocerebellar ataxia type 20	ORPHAnet
0‑L	101111	Spinocerebellar ataxia type 25	ORPHAnet
0‑L	101112	Spinocerebellar ataxia type 26	ORPHAnet
0‑L	101150	Autosomal recessive dopa-responsive dystonia	ORPHAnet
0‑L	101206	Pulmonary valve agenesis-tetralogy of Fallot-absence of ductus arteriosus syndrome	ORPHAnet
0‑L	101330	Porphyria cutanea tarda	ORPHAnet
0‑L	101334	African tick typhus	ORPHAnet
0‑L	101351	Familial isolated congenital asplenia	ORPHAnet
0‑L	101685	Rare non-syndromic intellectual disability	ORPHAnet
0‑L	101932	Anomaly of the mitral subvalvular apparatus	ORPHAnet
0‑L	102379	Acute myeloid leukemia and myelodysplastic syndromes related to alkylating agent	ORPHAnet
0‑L	102381	Acute myeloid leukemia and myelodysplastic syndromes related to topoisomerase type 2 inhibitor	ORPHAnet
0‑L	102724	Acute myeloid leukemia with t(8;21)(q22;q22) translocation	ORPHAnet
0‑L	103907	Chronic diarrhea due to glucoamylase deficiency	ORPHAnet
0‑L	103908	Congenital sodium diarrhea	ORPHAnet
0‑L	103909	Trehalase deficiency	ORPHAnet
0‑L	103910	Congenital enterocyte heparan sulfate deficiency	ORPHAnet
0‑L	103918	Tropical pancreatitis	ORPHAnet
0‑L	103920	Undetermined colitis	ORPHAnet
0‑L	104075	Adenocarcinoma of the small intestine	ORPHAnet
0‑L	104076	Leiomyosarcoma of small intestine	ORPHAnet
0‑L	104077	Myopathic intestinal pseudoobstruction	ORPHAnet
0‑L	104078	Unclassified intestinal pseudoobstruction	ORPHAnet
0‑L	137577	Neonatal hypoxic and ischemic brain injury	ORPHAnet
0‑L	137583	Vulvar intraepithelial neoplasia	ORPHAnet
0‑L	137593	Infectious epithelial keratitis	ORPHAnet
0‑L	137596	Neurotrophic keratopathy	ORPHAnet
0‑L	137599	Herpes simplex virus stromal keratitis	ORPHAnet
0‑L	137602	Corneal endotheliitis	ORPHAnet
0‑L	137605	Legius syndrome	ORPHAnet
0‑L	137608	Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome	ORPHAnet
0‑L	137617	Nephrogenic systemic fibrosis	ORPHAnet
0‑L	137622	Intractable diarrhea-choanal atresia-eye anomalies syndrome	ORPHAnet
0‑L	137625	Glycogen storage disease due to muscle and heart glycogen synthase deficiency	ORPHAnet
0‑L	137628	Cardiac anomalies-heterotaxy syndrome	ORPHAnet
0‑L	137631	Lung fibrosis-immunodeficiency-46,XX gonadal dysgenesis syndrome	ORPHAnet
0‑L	137634	Overgrowth-macrocephaly-facial dysmorphism syndrome	ORPHAnet
0‑L	137639	Hypomyelinating leukodystrophy-ataxia-hypodontia-hypomyelination syndrome	ORPHAnet
0‑L	137667	Capillary malformation-arteriovenous malformation	ORPHAnet
0‑L	137672	Pellucid marginal degeneration	ORPHAnet
0‑L	137675	Histiocytoid cardiomyopathy	ORPHAnet
0‑L	137678	Spondyloepiphyseal dysplasia with metatarsal shortening	ORPHAnet
0‑L	137681	Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1	ORPHAnet
0‑L	137686	Asherman syndrome	ORPHAnet
0‑L	137698	Cytomegalovirus disease in patients with impaired cell mediated immunity deemed at risk	ORPHAnet
0‑L	137754	Neurological conditions associated with aminoacylase 1 deficiency	ORPHAnet
0‑L	137776	Lethal congenital contracture syndrome type 2	ORPHAnet
0‑L	137783	Lethal congenital contracture syndrome type 3	ORPHAnet
0‑L	137810	Nodular cutaneous amyloidosis	ORPHAnet
0‑L	137814	Macular amyloidosis	ORPHAnet
0‑L	137817	Arachnoiditis	ORPHAnet
0‑L	137820	Extrapelvic endometriosis	ORPHAnet
0‑L	137831	X-linked intellectual disability-cerebellar hypoplasia syndrome	ORPHAnet
0‑L	137834	Frank-Ter Haar syndrome	ORPHAnet
0‑L	137839	Lemierre syndrome	ORPHAnet
0‑L	137867	Madras motor neuron disease	ORPHAnet
0‑L	137888	Auriculocondylar syndrome	ORPHAnet
0‑L	137893	Male infertility due to large-headed multiflagellar polyploid spermatozoa	ORPHAnet
0‑L	137898	Leukoencephalopathy with brain stem and spinal cord involvement-high lactate syndrome	ORPHAnet
0‑L	137902	Isolated optic nerve hypoplasia/aplasia	ORPHAnet
0‑L	137908	Hypotonia with lactic acidemia and hyperammonemia	ORPHAnet
0‑L	137911	Autism-facial port-wine stain syndrome	ORPHAnet
0‑L	137914	Choanal atresia	ORPHAnet
0‑L	137917	Choanal atresia, unilateral	ORPHAnet
0‑L	137920	Choanal atresia, bilateral	ORPHAnet
0‑L	137926	Primary laryngeal lymphangioma	ORPHAnet
0‑L	137929	Neonatal brainstem dysfunction	ORPHAnet
0‑L	137932	Congenital laryngeal palsy	ORPHAnet
0‑L	137935	Laryngotracheal angioma	ORPHAnet
0‑L	139396	X-linked cerebral adrenoleukodystrophy	ORPHAnet
0‑L	139399	Adrenomyeloneuropathy	ORPHAnet
0‑L	139402	Drug reaction with eosinophilia and systemic symptoms	ORPHAnet
0‑L	139406	Encephalopathy due to prosaposin deficiency	ORPHAnet
0‑L	139411	Carney triad	ORPHAnet
0‑L	139414	Congenital panfollicular nevus	ORPHAnet
0‑L	139417	Acute transverse myelitis	ORPHAnet
0‑L	139423	Idiopathic acute transverse myelitis	ORPHAnet
0‑L	139426	Perioral myoclonia with absences	ORPHAnet
0‑L	139431	Jeavons syndrome	ORPHAnet
0‑L	139436	Multicentric reticulohistiocytosis	ORPHAnet
0‑L	139441	Hypomyelination with atrophy of basal ganglia and cerebellum	ORPHAnet
0‑L	139444	Leukoencephalopathy with bilateral anterior temporal lobe cysts	ORPHAnet
0‑L	139447	Progressive cavitating leukoencephalopathy	ORPHAnet
0‑L	139450	Microtia-eye coloboma-imperforation of the nasolacrimal duct syndrome	ORPHAnet
0‑L	139455	Autosomal recessive bestrophinopathy	ORPHAnet
0‑L	139466	SERKAL syndrome	ORPHAnet
0‑L	139471	Microphthalmia with brain and digit anomalies	ORPHAnet
0‑L	139474	17q11.2 microduplication syndrome	ORPHAnet
0‑L	139480	Autosomal recessive spastic paraplegia type 39	ORPHAnet
0‑L	139485	Autosomal recessive ataxia due to ubiquinone deficiency	ORPHAnet
0‑L	139491	Hemochromatosis type 4	ORPHAnet
0‑L	139507	African iron overload	ORPHAnet
0‑L	139512	Neuropathy with hearing impairment	ORPHAnet
0‑L	139515	Charcot-Marie-Tooth disease type 4J	ORPHAnet
0‑L	139518	Distal hereditary motor neuropathy type 1	ORPHAnet
0‑L	139525	Distal hereditary motor neuropathy type 2	ORPHAnet
0‑L	139536	Distal hereditary motor neuropathy type 5	ORPHAnet
0‑L	139547	Distal spinal muscular atrophy type 3	ORPHAnet
0‑L	139552	Distal hereditary motor neuropathy, Jerash type	ORPHAnet
0‑L	139557	X-linked distal spinal muscular atrophy type 3	ORPHAnet
0‑L	139564	Hereditary sensory and autonomic neuropathy type 1B	ORPHAnet
0‑L	139573	Hereditary sensory and autonomic neuropathy with deafness and global delay	ORPHAnet
0‑L	139578	Mutilating hereditary sensory neuropathy with spastic paraplegia	ORPHAnet
0‑L	139583	X-linked hereditary sensory and autonomic neuropathy with deafness	ORPHAnet
0‑L	139589	Distal hereditary motor neuropathy type 7	ORPHAnet
0‑L	140286	Secondary hypoparathyroidism due to impaired parathormon secretion	ORPHAnet
0‑L	140436	Primary intraosseous venous malformation	ORPHAnet
0‑L	140481	Autosomal dominant slowed nerve conduction velocity	ORPHAnet
0‑L	140896	Severe acute respiratory syndrome	ORPHAnet
0‑L	140905	Hyperlipidemia due to hepatic triacylglycerol lipase deficiency	ORPHAnet
0‑L	140908	Brachydactyly type B2	ORPHAnet
0‑L	140917	Stapes ankylosis with broad thumbs and toes	ORPHAnet
0‑L	140922	Titin-related limb-girdle muscular dystrophy R10	ORPHAnet
0‑L	140927	Benign familial neonatal-infantile seizures	ORPHAnet
0‑L	140933	Linear atrophoderma of Moulin	ORPHAnet
0‑L	140936	Lelis syndrome	ORPHAnet
0‑L	140941	Short stature due to primary acid-labile subunit deficiency	ORPHAnet
0‑L	140944	CLOVES syndrome	ORPHAnet
0‑L	140949	Low-flow priapism	ORPHAnet
0‑L	140952	Syndactyly-telecanthus-anogenital and renal malformations syndrome	ORPHAnet
0‑L	140957	Autosomal dominant macrothrombocytopenia	ORPHAnet
0‑L	140963	Bilateral microtia-deafness-cleft palate syndrome	ORPHAnet
0‑L	140966	Palmoplantar keratoderma, Nagashima type	ORPHAnet
0‑L	140969	Saldino-Mainzer syndrome	ORPHAnet
0‑L	140976	RHYNS syndrome	ORPHAnet
0‑L	140989	Primary angiitis of the central nervous system	ORPHAnet
0‑L	141000	Orofaciodigital syndrome type 11	ORPHAnet
0‑L	141007	Orofaciodigital syndrome type 9	ORPHAnet
0‑L	141013	First branchial cleft anomaly	ORPHAnet
0‑L	141022	Second branchial cleft anomaly	ORPHAnet
0‑L	141030	Third branchial cleft anomaly	ORPHAnet
0‑L	141037	Fourth branchial cleft anomaly	ORPHAnet
0‑L	141046	Cervical dermoid cyst	ORPHAnet
0‑L	141051	Facial dermoid cyst	ORPHAnet
0‑L	141061	Commissural lip fistula	ORPHAnet
0‑L	141064	Lower lip fistula	ORPHAnet
0‑L	141067	Cervicofacial fibrochondroma	ORPHAnet
0‑L	141071	Digestive duplication cyst of the tongue	ORPHAnet
0‑L	141074	External auditory canal aplasia/hypoplasia	ORPHAnet
0‑L	141077	Epignathus	ORPHAnet
0‑L	141083	Nasolacrimal duct cyst	ORPHAnet
0‑L	141091	Polyrrhinia	ORPHAnet
0‑L	141096	Supernumerary nostril	ORPHAnet
0‑L	141099	Proboscis lateralis	ORPHAnet
0‑L	141103	Nasal dermoid cyst	ORPHAnet
0‑L	141107	Nasopharyngeal teratoma	ORPHAnet
0‑L	141112	Nasal glial heterotopia	ORPHAnet
0‑L	141115	Nasal ganglioglioma	ORPHAnet
0‑L	141118	Nasal encephalocele	ORPHAnet
0‑L	141121	Congenital subglottic stenosis	ORPHAnet
0‑L	141124	Congenital laryngeal cyst	ORPHAnet
0‑L	141127	Congenital tracheal stenosis	ORPHAnet
0‑L	141132	Oculo-auriculo-vertebral spectrum	ORPHAnet
0‑L	141145	Hemifacial hyperplasia	ORPHAnet
0‑L	141148	Hemifacial myohyperplasia	ORPHAnet
0‑L	141152	Isolated congenital hypoglossia/aglossia	ORPHAnet
0‑L	141163	Glossopalatine ankylosis	ORPHAnet
0‑L	141168	Frontonasal arteriovenous malformation	ORPHAnet
0‑L	141171	Maxillary arteriovenous malformation	ORPHAnet
0‑L	141174	Mandibular arteriovenous malformation	ORPHAnet
0‑L	141179	Non-involuting congenital hemangioma	ORPHAnet
0‑L	141184	Rapidly involuting congenital hemangioma	ORPHAnet
0‑L	141194	Cerebrofacial arteriovenous metameric syndrome type 1	ORPHAnet
0‑L	141199	Cerebrofacial arteriovenous metameric syndrome type 3	ORPHAnet
0‑L	141209	Diffuse lymphatic malformation	ORPHAnet
0‑L	141214	Isolated congenital syngnathia	ORPHAnet
0‑L	141219	Nasal dorsum fistula	ORPHAnet
0‑L	141239	Median cleft of the upper lip and maxilla	ORPHAnet
0‑L	141242	Paramedian nasal cleft	ORPHAnet
0‑L	141258	Tessier number 4 facial cleft	ORPHAnet
0‑L	141261	Tessier number 5 facial cleft	ORPHAnet
0‑L	141265	Tessier number 6 facial cleft	ORPHAnet
0‑L	141276	Tessier number 7 facial cleft	ORPHAnet
0‑L	141288	Midline cervical cleft	ORPHAnet
0‑L	141291	Cleft lip and alveolus	ORPHAnet
0‑L	141327	Orofaciodigital syndrome type 12	ORPHAnet
0‑L	141330	Orofaciodigital syndrome type 13	ORPHAnet
0‑L	141333	Biemond syndrome type 2	ORPHAnet
0‑L	155838	Pinnae fistula or cyst	ORPHAnet
0‑L	155878	Submucosal cleft palate	ORPHAnet
0‑L	155884	Coloboma of superior eyelid	ORPHAnet
0‑L	155889	Coloboma of inferior eyelid	ORPHAnet
0‑L	156728	Spondyloepimetaphyseal dysplasia, matrilin-3 type	ORPHAnet
0‑L	156731	Dyssegmental dysplasia, Rolland-Desbuquois type	ORPHAnet
0‑L	157215	Hereditary hypophosphatemic rickets with hypercalciuria	ORPHAnet
0‑L	157713	Congenital or early infantile CACH syndrome	ORPHAnet
0‑L	157716	Late infantile CACH syndrome	ORPHAnet
0‑L	157719	Juvenile or adult CACH syndrome	ORPHAnet
0‑L	157769	Situs ambiguus	ORPHAnet
0‑L	157791	Epithelioid hemangioendothelioma	ORPHAnet
0‑L	157794	Hereditary mixed polyposis syndrome	ORPHAnet
0‑L	157798	Serrated polyposis syndrome	ORPHAnet
0‑L	157801	Mesoaxial synostotic syndactyly with phalangeal reduction	ORPHAnet
0‑L	157808	Congenital pseudoarthrosis of the limbs	ORPHAnet
0‑L	157820	Cold-induced sweating syndrome	ORPHAnet
0‑L	157823	Klüver-Bucy syndrome	ORPHAnet
0‑L	157826	Congenital epulis	ORPHAnet
0‑L	157832	Craniorhiny	ORPHAnet
0‑L	157835	Paroxysmal hemicrania	ORPHAnet
0‑L	157846	Neuroferritinopathy	ORPHAnet
0‑L	157850	Pantothenate kinase-associated neurodegeneration	ORPHAnet
0‑L	157941	Huntington disease-like 1	ORPHAnet
0‑L	157946	Huntington disease-like 3	ORPHAnet
0‑L	157949	Combined immunodeficiency with granulomatosis	ORPHAnet
0‑L	157954	ANE syndrome	ORPHAnet
0‑L	157962	Oculoauricular syndrome, Schorderet type	ORPHAnet
0‑L	157965	SLC39A13-related spondylodysplastic Ehlers-Danlos syndrome	ORPHAnet
0‑L	157973	Congenital muscular dystrophy due to LMNA mutation	ORPHAnet
0‑L	157991	Generalized eruptive histiocytosis	ORPHAnet
0‑L	157997	Benign cephalic histiocytosis	ORPHAnet
0‑L	158000	Juvenile xanthogranuloma	ORPHAnet
0‑L	158003	Xanthoma disseminatum	ORPHAnet
0‑L	158008	Papular xanthoma	ORPHAnet
0‑L	158011	Necrobiotic xanthogranuloma	ORPHAnet
0‑L	158014	Rosaï-Dorfman disease	ORPHAnet
0‑L	158019	Indeterminate cell histiocytosis	ORPHAnet
0‑L	158022	Progressive nodular histiocytosis	ORPHAnet
0‑L	158025	Hereditary progressive mucinous histiocytosis	ORPHAnet
0‑L	158029	Sea-blue histiocytosis	ORPHAnet
0‑L	158048	Hemophagocytic syndrome associated with an infection	ORPHAnet
0‑L	158057	Acquired hemophagocytic lymphohistiocytosis associated with malignant disease	ORPHAnet
0‑L	158061	Macrophage activation syndrome	ORPHAnet
0‑L	158668	Ectodermal dysplasia-skin fragility syndrome	ORPHAnet
0‑L	158673	Localized dystrophic epidermolysis bullosa, acral form	ORPHAnet
0‑L	158676	Localized dystrophic epidermolysis bullosa, nails only	ORPHAnet
0‑L	158681	Epidermolysis bullosa simplex with circinate migratory erythema	ORPHAnet
0‑L	158684	Epidermolysis bullosa simplex with pyloric atresia	ORPHAnet
0‑L	158687	Lethal acantholytic erosive disorder	ORPHAnet
0‑L	158766	Typical urticaria pigmentosa	ORPHAnet
0‑L	158769	Plaque-form urticaria pigmentosa	ORPHAnet
0‑L	158772	Nodular urticaria pigmentosa	ORPHAnet
0‑L	158775	Smoldering systemic mastocytosis	ORPHAnet
0‑L	158778	Isolated bone marrow mastocytosis	ORPHAnet
0‑L	160148	Cap polyposis	ORPHAnet
0‑L	162516	Isolated congenital nasal pyriform aperture stenosis	ORPHAnet
0‑L	162526	Isolated congenital auditory ossicle malformation	ORPHAnet
0‑L	163525	Subacute cutaneous lupus erythematosus	ORPHAnet
0‑L	163596	Hb Bart's hydrops fetalis	ORPHAnet
0‑L	163634	Maffucci syndrome	ORPHAnet
0‑L	163649	Spondyloepiphyseal dysplasia-craniosynostosis-cleft palate-cataracts-intellectual disability syndrome	ORPHAnet
0‑L	163654	Spondyloepiphyseal dysplasia-brachydactyly-speech disorder syndrome	ORPHAnet
0‑L	163662	Spondyloepiphyseal dysplasia, Reardon type	ORPHAnet
0‑L	163665	Spondyloepiphyseal dysplasia tarda, Kohn type	ORPHAnet
0‑L	163668	Spondyloepiphyseal dysplasia, MacDermot type	ORPHAnet
0‑L	163681	CNTNAP2-related developmental and epileptic encephalopathy	ORPHAnet
0‑L	163684	Leukoencephalopathy-dystonia-motor neuropathy syndrome	ORPHAnet
0‑L	163690	Hypotonia-cystinuria syndrome	ORPHAnet
0‑L	163693	2p21 microdeletion syndrome	ORPHAnet
0‑L	163696	Action myoclonus-renal failure syndrome	ORPHAnet
0‑L	163699	Alveolar soft tissue sarcoma	ORPHAnet
0‑L	163703	Febrile infection-related epilepsy syndrome	ORPHAnet
0‑L	163708	Cryptogenic late-onset epileptic spasms	ORPHAnet
0‑L	163717	Benign familial mesial temporal lobe epilepsy	ORPHAnet
0‑L	163721	Rolandic epilepsy-speech dyspraxia syndrome	ORPHAnet
0‑L	163727	Rolandic epilepsy-paroxysmal exercise-induced dystonia-writer's cramp syndrome	ORPHAnet
0‑L	163746	Peripheral demyelinating neuropathy-central dysmyelinating leukodystrophy-Waardenburg syndrome-Hirschsprung disease	ORPHAnet
0‑L	163921	Posttransplant acute limbic encephalitis	ORPHAnet
0‑L	163927	Pustulosis palmaris et plantaris	ORPHAnet
0‑L	163931	Acrodermatitis continua of Hallopeau	ORPHAnet
0‑L	163934	Atopic keratoconjunctivitis	ORPHAnet
0‑L	163937	X-linked intellectual disability, Najm type	ORPHAnet
0‑L	163956	X-linked intellectual disability, Nascimento type	ORPHAnet
0‑L	163961	X-linked cerebral-cerebellar-coloboma syndrome	ORPHAnet
0‑L	163966	X-linked dominant chondrodysplasia, Chassaing-Lacombe type	ORPHAnet
0‑L	163971	X-linked intellectual disability, Cilliers type	ORPHAnet
0‑L	163976	X-linked intellectual disability, Van Esch type	ORPHAnet
0‑L	163979	X-linked intellectual disability-craniofacioskeletal syndrome	ORPHAnet
0‑L	163985	Hyperekplexia-epilepsy syndrome	ORPHAnet
0‑L	164726	Acute myeloid leukemia and myelodysplastic syndromes related to radiation	ORPHAnet
0‑L	164736	Familial advanced sleep-phase syndrome	ORPHAnet
0‑L	165805	Familial mesial temporal lobe epilepsy with febrile seizures	ORPHAnet
0‑L	165955	Wound myiasis	ORPHAnet
0‑L	165958	Cavitary myiasis	ORPHAnet
0‑L	165991	Exercise-induced hyperinsulinism	ORPHAnet
0‑L	166002	Multiple epiphyseal dysplasia due to collagen 9 anomaly	ORPHAnet
0‑L	166011	Multiple epiphyseal dysplasia, Beighton type	ORPHAnet
0‑L	166016	Multiple epiphyseal dysplasia, Lowry type	ORPHAnet
0‑L	166024	Multiple epiphyseal dysplasia, Al-Gazali type	ORPHAnet
0‑L	166029	Multiple epiphyseal dysplasia, with severe proximal femoral dysplasia	ORPHAnet
0‑L	166032	Multiple epiphyseal dysplasia, with miniepiphyses	ORPHAnet
0‑L	166035	Brachydactyly-short stature-retinitis pigmentosa syndrome	ORPHAnet
0‑L	166038	Metaphyseal chondrodysplasia, Kaitila type	ORPHAnet
0‑L	166063	Pontocerebellar hypoplasia type 4	ORPHAnet
0‑L	166073	Pontocerebellar hypoplasia type 6	ORPHAnet
0‑L	166078	Von Willebrand disease type 1	ORPHAnet
0‑L	166081	Von Willebrand disease type 2	ORPHAnet
0‑L	166084	Von Willebrand disease type 2A	ORPHAnet
0‑L	166087	Von Willebrand disease type 2B	ORPHAnet
0‑L	166090	Von Willebrand disease type 2M	ORPHAnet
0‑L	166093	Von Willebrand disease type 2N	ORPHAnet
0‑L	166096	Von Willebrand disease type 3	ORPHAnet
0‑L	166100	Autosomal dominant otospondylomegaepiphyseal dysplasia	ORPHAnet
0‑L	166105	FASTKD2-related infantile mitochondrial encephalomyopathy	ORPHAnet
0‑L	166108	Intellectual disability, Birk-Barel type	ORPHAnet
0‑L	166113	Bazex syndrome	ORPHAnet
0‑L	166119	Isolated osteopoikilosis	ORPHAnet
0‑L	166260	Dentinogenesis imperfecta type 2	ORPHAnet
0‑L	166265	Dentinogenesis imperfecta type 3	ORPHAnet
0‑L	166272	Odontochondrodysplasia	ORPHAnet
0‑L	166277	Wormian bone-multiple fractures-dentinogenesis imperfecta-skeletal dysplasia	ORPHAnet
0‑L	166282	Familial sick sinus syndrome	ORPHAnet
0‑L	166286	Porokeratotic eccrine ostial and dermal duct nevus	ORPHAnet
0‑L	166291	Dirofilariasis	ORPHAnet
0‑L	166299	Benign partial epilepsy of infancy with complex partial seizures	ORPHAnet
0‑L	166302	Benign partial epilepsy with secondarily generalized seizures in infancy	ORPHAnet
0‑L	166305	Benign infantile seizures associated with mild gastroenteritis	ORPHAnet
0‑L	166308	Benign infantile focal epilepsy with midline spikes and waves during sleep	ORPHAnet
0‑L	166409	Photosensitive epilepsy	ORPHAnet
0‑L	166412	Hot water reflex epilepsy	ORPHAnet
0‑L	166415	Audiogenic seizures	ORPHAnet
0‑L	166418	Eating reflex epilepsy	ORPHAnet
0‑L	166421	Orgasm-induced seizures	ORPHAnet
0‑L	166424	Thinking seizures	ORPHAnet
0‑L	166427	Startle epilepsy	ORPHAnet
0‑L	166430	Micturation-induced seizures	ORPHAnet
0‑L	166433	Reading seizures	ORPHAnet
0‑L	167635	Scleromyxedema	ORPHAnet
0‑L	168443	Spondyloepimetaphyseal dysplasia-hypotrichosis syndrome	ORPHAnet
0‑L	168451	Spondyloepimetaphyseal dysplasia-abnormal dentition syndrome	ORPHAnet
0‑L	168454	Spondyloepimetaphyseal dysplasia, Geneviève type	ORPHAnet
0‑L	168486	Congenital neuronal ceroid lipofuscinosis	ORPHAnet
0‑L	168491	Late infantile neuronal ceroid lipofuscinosis	ORPHAnet
0‑L	168544	Spondylometaphyseal dysplasia, Golden type	ORPHAnet
0‑L	168549	Axial spondylometaphyseal dysplasia	ORPHAnet
0‑L	168552	Spondylometaphyseal dysplasia-bowed forearms-facial dysmorphism syndrome	ORPHAnet
0‑L	168555	Spondylometaphyseal dysplasia, A4 type	ORPHAnet
0‑L	168558	46,XY disorder of sex development-adrenal insufficiency due to CYP11A1 deficiency	ORPHAnet
0‑L	168563	46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome	ORPHAnet
0‑L	168566	Fatal mitochondrial disease due to combined oxidative phosphorylation defect type 3	ORPHAnet
0‑L	168569	H syndrome	ORPHAnet
0‑L	168572	Native American myopathy	ORPHAnet
0‑L	168577	Hereditary cryohydrocytosis with reduced stomatin	ORPHAnet
0‑L	168583	Hereditary North American Indian childhood cirrhosis	ORPHAnet
0‑L	168588	Hyperandrogenism due to cortisone reductase deficiency	ORPHAnet
0‑L	168593	Sudden infant death-dysgenesis of the testes syndrome	ORPHAnet
0‑L	168598	Brain demyelination due to methionine adenosyltransferase deficiency	ORPHAnet
0‑L	168601	Congenital enteropathy due to enteropeptidase deficiency	ORPHAnet
0‑L	168606	Seborrhea-like dermatitis with psoriasiform elements	ORPHAnet
0‑L	168612	Congenital deficiency in alpha-fetoprotein	ORPHAnet
0‑L	168615	Hereditary persistence of alpha-fetoprotein	ORPHAnet
0‑L	168621	Dysplasia of head of femur, Meyer type	ORPHAnet
0‑L	168624	Familial scaphocephaly syndrome, McGillivray type	ORPHAnet
0‑L	168629	Autosomal thrombocytopenia with normal platelets	ORPHAnet
0‑L	168632	Generalized basaloid follicular hamartoma syndrome	ORPHAnet
0‑L	168782	Childhood disintegrative disorder	ORPHAnet
0‑L	168796	Heart-hand syndrome, Slovenian type	ORPHAnet
0‑L	168811	Malignant peritoneal mesothelioma	ORPHAnet
0‑L	168816	Peritoneal cystic mesothelioma	ORPHAnet
0‑L	168829	Primary peritoneal carcinoma	ORPHAnet
0‑L	168940	Chronic eosinophilic leukemia	ORPHAnet
0‑L	168947	Myeloid/lymphoid neoplasm associated with PDGFRA rearrangement	ORPHAnet
0‑L	168950	Myeloid/lymphoid neoplasm associated with PDGFRB rearrangement	ORPHAnet
0‑L	168953	Myeloid/lymphoid neoplasm associated with FGFR1 rearrangement	ORPHAnet
0‑L	168960	Refractory anemia with excess blasts in transformation	ORPHAnet
0‑L	168966	Composite lymphoma	ORPHAnet
0‑L	168984	CLAPO syndrome	ORPHAnet
0‑L	168999	Malignant melanoma of the mucosa	ORPHAnet
0‑L	169079	Cernunnos-XLF deficiency	ORPHAnet
0‑L	169082	Combined immunodeficiency due to CD3gamma deficiency	ORPHAnet
0‑L	169085	Susceptibility to respiratory infections associated with CD8alpha chain mutation	ORPHAnet
0‑L	169090	Combined immunodeficiency due to CRAC channel dysfunction	ORPHAnet
0‑L	169095	Severe combined immunodeficiency due to FOXN1 deficiency	ORPHAnet
0‑L	169100	Immunodeficiency due to CD25 deficiency	ORPHAnet
0‑L	169105	Good syndrome	ORPHAnet
0‑L	169110	Immunoglobulin heavy chain deficiency	ORPHAnet
0‑L	169139	Transient hypogammaglobulinemia of infancy	ORPHAnet
0‑L	169142	Recurrent infection due to specific granule deficiency	ORPHAnet
0‑L	169147	Immunodeficiency due to a classical component pathway complement deficiency	ORPHAnet
0‑L	169150	Immunodeficiency due to a late component of complement deficiency	ORPHAnet
0‑L	169154	T-B+ severe combined immunodeficiency due to IL-7Ralpha deficiency	ORPHAnet
0‑L	169157	T-B+ severe combined immunodeficiency due to CD45 deficiency	ORPHAnet
0‑L	169160	T-B+ severe combined immunodeficiency due to CD3delta/CD3epsilon/CD3zeta	ORPHAnet
0‑L	169186	Autosomal recessive centronuclear myopathy	ORPHAnet
0‑L	169189	Autosomal dominant centronuclear myopathy	ORPHAnet
0‑L	169464	Primary CD59 deficiency	ORPHAnet
0‑L	169467	Recurrent Neisseria infections due to factor D deficiency	ORPHAnet
0‑L	169615	Idiopathic central precocious puberty	ORPHAnet
0‑L	169618	Secondary central precocious puberty	ORPHAnet
0‑L	169793	Severe hemophilia B	ORPHAnet
0‑L	169796	Moderate hemophilia B	ORPHAnet
0‑L	169799	Mild hemophilia B	ORPHAnet
0‑L	169802	Severe hemophilia A	ORPHAnet
0‑L	169805	Moderate hemophilia A	ORPHAnet
0‑L	169808	Mild hemophilia A	ORPHAnet
0‑L	171220	Rectal duplication	ORPHAnet
0‑L	171430	Severe congenital nemaline myopathy	ORPHAnet
0‑L	171433	Intermediate nemaline myopathy	ORPHAnet
0‑L	171436	Typical nemaline myopathy	ORPHAnet
0‑L	171439	Childhood-onset nemaline myopathy	ORPHAnet
0‑L	171442	Adult-onset nemaline myopathy	ORPHAnet
0‑L	171445	Muscle filaminopathy	ORPHAnet
0‑L	171607	X-linked spastic paraplegia type 34	ORPHAnet
0‑L	171612	Autosomal dominant spastic paraplegia type 37	ORPHAnet
0‑L	171617	Autosomal dominant spastic paraplegia type 38	ORPHAnet
0‑L	171622	Autosomal recessive spastic paraplegia type 32	ORPHAnet
0‑L	171629	Autosomal recessive spastic paraplegia type 35	ORPHAnet
0‑L	171673	Limbal stem cell deficiency	ORPHAnet
0‑L	171680	Lissencephaly due to TUBA1A mutation	ORPHAnet
0‑L	171684	Idiopathic bilateral vestibulopathy	ORPHAnet
0‑L	171690	Metabolic myopathy due to lactate transporter defect	ORPHAnet
0‑L	171695	Parkinsonian-pyramidal syndrome	ORPHAnet
0‑L	171700	Diffuse panbronchiolitis	ORPHAnet
0‑L	171703	Microcephaly-polymicrogyria-corpus callosum agenesis syndrome	ORPHAnet
0‑L	171706	Short stature-delayed bone age due to thyroid hormone metabolism deficiency	ORPHAnet
0‑L	171709	Male infertility due to globozoospermia	ORPHAnet
0‑L	171719	Cutis laxa-Marfanoid syndrome	ORPHAnet
0‑L	171723	White sponge nevus	ORPHAnet
0‑L	171829	6q16 microdeletion syndrome	ORPHAnet
0‑L	171839	Craniosynostosis-hydrocephalus-Arnold-Chiari malformation type I-radioulnar synostosis syndrome	ORPHAnet
0‑L	171844	Blindness-scoliosis-arachnodactyly syndrome	ORPHAnet
0‑L	171848	Polyneuropathy-hearing loss-ataxia-retinitis pigmentosa-cataract syndrome	ORPHAnet
0‑L	171851	MEDNIK syndrome	ORPHAnet
0‑L	171860	Intellectual disability-cataracts-kyphosis syndrome	ORPHAnet
0‑L	171863	Autosomal dominant spastic paraplegia type 42	ORPHAnet
0‑L	171866	Spondyloepimetaphyseal dysplasia, aggrecan type	ORPHAnet
0‑L	171871	Renal pseudohypoaldosteronism type 1	ORPHAnet
0‑L	171876	Generalized pseudohypoaldosteronism type 1	ORPHAnet
0‑L	171881	Cap myopathy	ORPHAnet
0‑L	171886	Cylindrical spirals myopathy	ORPHAnet
0‑L	171889	Myopathy with hexagonally cross-linked tubular arrays	ORPHAnet
0‑L	171929	Trisomy 10p	ORPHAnet
0‑L	177901	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 1	ORPHAnet
0‑L	177904	Prader-Willi syndrome due to paternal deletion of 15q11q13 type 2	ORPHAnet
0‑L	177907	Prader-Willi syndrome due to translocation	ORPHAnet
0‑L	177910	Prader-Willi syndrome due to imprinting mutation	ORPHAnet
0‑L	177926	Bleeding disorder in hemophilia A carriers	ORPHAnet
0‑L	177929	Bleeding disorder in hemophilia B carriers	ORPHAnet
0‑L	178029	Central diabetes insipidus	ORPHAnet
0‑L	178145	Moderate multiminicore disease with hand involvement	ORPHAnet
0‑L	178148	Antenatal multiminicore disease with arthrogryposis multiplex congenita	ORPHAnet
0‑L	178303	8q22.1 microdeletion syndrome	ORPHAnet
0‑L	178307	Reticulate acropigmentation of Kitamura	ORPHAnet
0‑L	178311	Isolated sternocostoclavicular hyperostosis	ORPHAnet
0‑L	178315	Undifferentiated embryonal sarcoma of the liver	ORPHAnet
0‑L	178320	Acute lung injury	ORPHAnet
0‑L	178333	Åland Islands eye disease	ORPHAnet
0‑L	178338	UV-sensitive syndrome	ORPHAnet
0‑L	178342	Inflammatory myofibroblastic tumor	ORPHAnet
0‑L	178345	Aromatase excess syndrome	ORPHAnet
0‑L	178355	Smith-McCort dysplasia	ORPHAnet
0‑L	178364	Syndromic microphthalmia type 5	ORPHAnet
0‑L	178377	Osteosclerosis-developmental delay-craniosynostosis syndrome	ORPHAnet
0‑L	178382	Congenital vertical talus	ORPHAnet
0‑L	178389	Osteopetrosis-hypogammaglobulinemia syndrome	ORPHAnet
0‑L	178396	Hemorrhagic disease due to alpha-1-antitrypsin Pittsburgh mutation	ORPHAnet
0‑L	178400	Distal myopathy with anterior tibial onset	ORPHAnet
0‑L	178461	X-linked myopathy with postural muscle atrophy	ORPHAnet
0‑L	178464	Hereditary myopathy with early respiratory failure	ORPHAnet
0‑L	178469	Autosomal dominant non-syndromic intellectual disability	ORPHAnet
0‑L	178475	Wound botulism	ORPHAnet
0‑L	178478	Infant botulism	ORPHAnet
0‑L	178481	Intestinal botulism	ORPHAnet
0‑L	178487	Adult intestinal botulism	ORPHAnet
0‑L	178493	Myopic macular degeneration	ORPHAnet
0‑L	178506	Brain calcification, Rajab type	ORPHAnet
0‑L	178509	Perry syndrome	ORPHAnet
0‑L	178512	Folliculotropic mycosis fungoides	ORPHAnet
0‑L	178517	Localized pagetoid reticulosis	ORPHAnet
0‑L	178522	Primary cutaneous CD4+ small/medium-sized pleomorphic T-cell lymphoma	ORPHAnet
0‑L	178528	Primary cutaneous aggressive epidermotropic CD8+ T-cell lymphoma	ORPHAnet
0‑L	178533	Primary cutaneous gamma/delta-positive T-cell lymphoma	ORPHAnet
0‑L	178536	Primary cutaneous marginal zone B-cell lymphoma	ORPHAnet
0‑L	178540	Primary cutaneous follicle center lymphoma	ORPHAnet
0‑L	178544	Primary cutaneous diffuse large B-cell lymphoma, leg type	ORPHAnet
0‑L	179490	Obesity due to congenital leptin resistance	ORPHAnet
0‑L	179494	Obesity due to leptin receptor gene deficiency	ORPHAnet
0‑L	180074	True unicornuate uterus	ORPHAnet
0‑L	180079	Pseudounicornuate uterus	ORPHAnet
0‑L	180086	Didelphys uterus	ORPHAnet
0‑L	180106	Bicervical bicornuate uterus and blind hemivagina	ORPHAnet
0‑L	180111	Bicervical bicornuate uterus with patent cervix and vagina	ORPHAnet
0‑L	180114	Unicervical bicornuate uterus	ORPHAnet
0‑L	180126	Complete septate uterus	ORPHAnet
0‑L	180129	Partial septate uterus	ORPHAnet
0‑L	180139	Uterine hypoplasia	ORPHAnet
0‑L	180142	Absence of uterine body	ORPHAnet
0‑L	180145	Uterine cervical aplasia and agenesis	ORPHAnet
0‑L	180154	Septate vagina	ORPHAnet
0‑L	180157	Longitudinal vaginal septum	ORPHAnet
0‑L	180160	Transverse vaginal septum	ORPHAnet
0‑L	180176	Familial juvenile hypertrophy of the breast	ORPHAnet
0‑L	180182	Supernumerary breasts	ORPHAnet
0‑L	180188	Isolated congenital breast hypoplasia/aplasia	ORPHAnet
0‑L	180226	Embryonal carcinoma	ORPHAnet
0‑L	180229	Polyembryoma	ORPHAnet
0‑L	180234	Mixed germ cell tumor	ORPHAnet
0‑L	180237	Benign tumor of fallopian tubes	ORPHAnet
0‑L	180242	Malignant tumor of fallopian tubes	ORPHAnet
0‑L	180247	Vaginal carcinoma	ORPHAnet
0‑L	180261	Phyllodes tumor of the breast	ORPHAnet
0‑L	180267	Giant adenofibroma of the breast	ORPHAnet
0‑L	180275	Paget disease of the nipple	ORPHAnet
0‑L	182050	MYH9-related disease	ORPHAnet
0‑L	182127	Extragonadal germinoma	ORPHAnet
0‑L	183663	Hyper-IgM syndrome with susceptibility to opportunistic infections	ORPHAnet
0‑L	183666	Hyper-IgM syndrome without susceptibility to opportunistic infections	ORPHAnet
0‑L	183675	Recurrent infections associated with rare immunoglobulin isotypes deficiency	ORPHAnet
0‑L	183678	Hermansky-Pudlak syndrome due to AP-3 deficiency	ORPHAnet
0‑L	183707	Neutrophil immunodeficiency syndrome	ORPHAnet
0‑L	183713	Bacterial susceptibility due to TLR signaling pathway deficiency	ORPHAnet
0‑L	189427	Cushing syndrome due to macronodular adrenal hyperplasia	ORPHAnet
0‑L	189439	Primary pigmented nodular adrenocortical disease	ORPHAnet
0‑L	189466	Familial isolated hypoparathyroidism due to impaired PTH secretion	ORPHAnet
0‑L	199241	Pulmonary capillary hemangiomatosis	ORPHAnet
0‑L	199244	Nelson syndrome	ORPHAnet
0‑L	199247	Corticosteroid-binding globulin deficiency	ORPHAnet
0‑L	199251	Ledderhose disease	ORPHAnet
0‑L	199260	Calcifying aponeurotic fibroma	ORPHAnet
0‑L	199267	Infantile digital fibromatosis	ORPHAnet
0‑L	199276	Familial multiple lipomatosis	ORPHAnet
0‑L	199279	Familial angiolipomatosis	ORPHAnet
0‑L	199282	Harlequin syndrome	ORPHAnet
0‑L	199285	Hereditary hypercarotenemia and vitamin A deficiency	ORPHAnet
0‑L	199293	Congenital microgastria	ORPHAnet
0‑L	199296	Congenital isolated ACTH deficiency	ORPHAnet
0‑L	199299	Late-onset isolated ACTH deficiency	ORPHAnet
0‑L	199302	Isolated cleft lip	ORPHAnet
0‑L	199306	Cleft lip/palate	ORPHAnet
0‑L	199310	Tetragametic chimerism	ORPHAnet
0‑L	199315	Familial clubfoot with or without associated lower limb anomalies	ORPHAnet
0‑L	199318	15q13.3 microdeletion syndrome	ORPHAnet
0‑L	199323	Endophthalmitis	ORPHAnet
0‑L	199326	Isolated autosomal dominant hypomagnesemia, Glaudemans type	ORPHAnet
0‑L	199329	Congenital myopathy, Paradas type	ORPHAnet
0‑L	199332	Endocrine-cerebro-osteodysplasia syndrome	ORPHAnet
0‑L	199337	Pancreatic insufficiency-anemia-hyperostosis syndrome	ORPHAnet
0‑L	199340	Muscular dystrophy, Selcen type	ORPHAnet
0‑L	199343	EAST syndrome	ORPHAnet
0‑L	199348	Thiamine-responsive encephalopathy	ORPHAnet
0‑L	199351	Adult-onset dystonia-parkinsonism	ORPHAnet
0‑L	199354	Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy	ORPHAnet
0‑L	199627	Atypical autism	ORPHAnet
0‑L	199630	Isolated cerebellar vermis hypoplasia	ORPHAnet
0‑L	199642	Isolated congenital microcephaly	ORPHAnet
0‑L	199647	Isolated encephalocele	ORPHAnet
0‑L	200418	Immunodeficiency with factor I anomaly	ORPHAnet
0‑L	200421	Immunodeficiency with factor H anomaly	ORPHAnet
0‑L	206436	Infantile Krabbe disease	ORPHAnet
0‑L	206443	Late-infantile/juvenile Krabbe disease	ORPHAnet
0‑L	206448	Adult Krabbe disease	ORPHAnet
0‑L	206470	Cystadenoma of childhood	ORPHAnet
0‑L	206473	Borderline epithelial tumor of ovary	ORPHAnet
0‑L	206484	Gonadoblastoma	ORPHAnet
0‑L	206489	Malignant germ cell tumor of the vagina	ORPHAnet
0‑L	206492	Vulvovaginal rhabdomyosarcoma	ORPHAnet
0‑L	206538	Malignant non-dysgerminomatous germ cell tumor of ovary	ORPHAnet
0‑L	206546	Symptomatic form of muscular dystrophy of Duchenne and Becker in female carriers	ORPHAnet
0‑L	206549	Anoctamin-5-related limb-girdle muscular dystrophy R12	ORPHAnet
0‑L	206554	Fukutin-related limb-girdle muscular dystrophy R13	ORPHAnet
0‑L	206559	POMT2-related limb-girdle muscular dystrophy R14	ORPHAnet
0‑L	206564	POMGNT1-related limb-girdle muscular dystrophy R15	ORPHAnet
0‑L	206569	Immune-mediated necrotizing myopathy	ORPHAnet
0‑L	206572	Overlap myositis	ORPHAnet
0‑L	206575	Rippling muscle disease with myasthenia gravis	ORPHAnet
0‑L	206580	Autosomal recessive lower motor neuron disease with childhood onset	ORPHAnet
0‑L	206583	Adult polyglucosan body disease	ORPHAnet
0‑L	206586	Neurolymphomatosis	ORPHAnet
0‑L	206594	Subacute inflammatory demyelinating polyneuropathy	ORPHAnet
0‑L	206599	Isolated asymptomatic elevation of creatine phosphokinase	ORPHAnet
0‑L	206991	Viral myositis	ORPHAnet
0‑L	206994	Bacterial myositis	ORPHAnet
0‑L	207000	Fungal myositis	ORPHAnet
0‑L	208441	Bilateral parasagittal parieto-occipital polymicrogyria	ORPHAnet
0‑L	208444	Bilateral frontal polymicrogyria	ORPHAnet
0‑L	208447	Bilateral generalized polymicrogyria	ORPHAnet
0‑L	208513	Spinocerebellar ataxia type 29	ORPHAnet
0‑L	208524	Herpetiform pemphigus	ORPHAnet
0‑L	208981	Polyradiculoneuropathy associated with IgG/IgA/IgM monoclonal gammopathy without known antibodies	ORPHAnet
0‑L	208989	Non-paraneoplastic sensory ganglionopathy	ORPHAnet
0‑L	208999	Paraneoplastic sensory ganglionopathy	ORPHAnet
0‑L	209004	Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy	ORPHAnet
0‑L	209335	Autosomal dominant adult-onset proximal spinal muscular atrophy	ORPHAnet
0‑L	209341	DYNC1H1-related autosomal dominant childhood-onset proximal spinal muscular atrophy	ORPHAnet
0‑L	209370	Severe neonatal-onset encephalopathy with microcephaly	ORPHAnet
0‑L	209867	Autosomal dominant rhegmatogenous retinal detachment	ORPHAnet
0‑L	209902	Hypercholesterolemia due to cholesterol 7alpha-hydroxylase deficiency	ORPHAnet
0‑L	209905	Brain-lung-thyroid syndrome	ORPHAnet
0‑L	209908	Isolated childhood apraxia of speech	ORPHAnet
0‑L	209916	Extraskeletal myxoid chondrosarcoma	ORPHAnet
0‑L	209919	Idiopathic copper-associated cirrhosis	ORPHAnet
0‑L	209932	Cone dystrophy with supernormal rod response	ORPHAnet
0‑L	209943	IRVAN syndrome	ORPHAnet
0‑L	209951	Autosomal recessive spastic paraplegia type 18	ORPHAnet
0‑L	209956	Idiopathic uveal effusion syndrome	ORPHAnet
0‑L	209959	Phacoanaphylactic uveitis	ORPHAnet
0‑L	209964	Solitary rectal ulcer syndrome	ORPHAnet
0‑L	209967	Episodic ataxia type 6	ORPHAnet
0‑L	209970	Episodic ataxia type 7	ORPHAnet
0‑L	209973	Benign nocturnal alternating hemiplegia of childhood	ORPHAnet
0‑L	209981	IRIDA syndrome	ORPHAnet
0‑L	209989	Non-papillary transitional cell carcinoma of the bladder	ORPHAnet
0‑L	210110	Intermediate osteopetrosis	ORPHAnet
0‑L	210115	Sterile multifocal osteomyelitis with periostitis and pustulosis	ORPHAnet
0‑L	210122	Congenital alveolar capillary dysplasia	ORPHAnet
0‑L	210128	Urocanic aciduria	ORPHAnet
0‑L	210133	Leukonychia totalis-acanthosis-nigricans-like lesions-abnormal hair syndrome	ORPHAnet
0‑L	210136	Pulmonary fibrosis-hepatic hyperplasia-bone marrow hypoplasia syndrome	ORPHAnet
0‑L	210141	Inherited congenital spastic tetraplegia	ORPHAnet
0‑L	210144	Lethal polymalformative syndrome, Boissel type	ORPHAnet
0‑L	210159	Adult hepatocellular carcinoma	ORPHAnet
0‑L	210163	Congenital lethal myopathy, Compton-North type	ORPHAnet
0‑L	210272	Mal de débarquement	ORPHAnet
0‑L	210548	Macrocephaly-intellectual disability-autism syndrome	ORPHAnet
0‑L	210571	Dystonia 16	ORPHAnet
0‑L	210576	Congenital temporomandibular joint ankylosis	ORPHAnet
0‑L	210584	Spindle cell hemangioma	ORPHAnet
0‑L	211017	Spinocerebellar ataxia type 30	ORPHAnet
0‑L	211067	Episodic ataxia type 5	ORPHAnet
0‑L	213504	Adenocarcinoma of ovary	ORPHAnet
0‑L	213512	Malignant mixed Müllerian tumor of the ovary	ORPHAnet
0‑L	213524	Hereditary site-specific ovarian cancer syndrome	ORPHAnet
0‑L	213528	Rare adenocarcinoma of the breast	ORPHAnet
0‑L	213531	Metaplastic carcinoma of the breast	ORPHAnet
0‑L	213557	Salivary gland type cancer of the breast	ORPHAnet
0‑L	213574	Rare variants of adenocarcinoma of the corpus uteri	ORPHAnet
0‑L	213600	Adenosarcoma of the corpus uteri	ORPHAnet
0‑L	213605	Carcinofibroma of the corpus uteri	ORPHAnet
0‑L	213610	Carcinosarcoma of the corpus uteri	ORPHAnet
0‑L	213615	Rhabdomyosarcoma of the corpus uteri	ORPHAnet
0‑L	213625	Leiomyosarcoma of the corpus uteri	ORPHAnet
0‑L	213630	Primitive neuroectodermal tumor of the corpus uteri	ORPHAnet
0‑L	213711	Endometrial stromal sarcoma	ORPHAnet
0‑L	213716	Squamous cell carcinoma of the corpus uteri	ORPHAnet
0‑L	213721	Undifferentiated carcinoma of the corpus uteri	ORPHAnet
0‑L	213726	Serous carcinoma of the corpus uteri	ORPHAnet
0‑L	213731	High-grade neuroendocrine carcinoma of the corpus uteri	ORPHAnet
0‑L	213736	Low-grade neuroendocrine tumor of the corpus uteri	ORPHAnet
0‑L	213746	Transitional cell carcinoma of the corpus uteri	ORPHAnet
0‑L	213751	Malignant germ cell tumor of the corpus uteri	ORPHAnet
0‑L	213767	Squamous cell carcinoma of the cervix uteri	ORPHAnet
0‑L	213772	Adenocarcinoma of the cervix uteri	ORPHAnet
0‑L	213777	High-grade neuroendocrine carcinoma of the cervix uteri	ORPHAnet
0‑L	213787	Carcinosarcoma of the cervix uteri	ORPHAnet
0‑L	213792	Adenosarcoma of the cervix uteri	ORPHAnet
0‑L	213802	Rhabdomyosarcoma of the cervix uteri	ORPHAnet
0‑L	213807	Leiomyosarcoma of the cervix uteri	ORPHAnet
0‑L	213812	Primitive neuroectodermal tumor of the cervix uteri	ORPHAnet
0‑L	213817	Papillary carcinoma of the cervix uteri	ORPHAnet
0‑L	213823	Adenoid cystic carcinoma of the cervix uteri	ORPHAnet
0‑L	213828	Adenoid basal carcinoma of the cervix uteri	ORPHAnet
0‑L	213833	Glassy cell carcinoma of the cervix uteri	ORPHAnet
0‑L	213837	Malignant germ cell tumor of the cervix uteri	ORPHAnet
0‑L	216694	Congenitally corrected transposition of the great arteries	ORPHAnet
0‑L	216718	Isolated congenitally uncorrected transposition of the great arteries	ORPHAnet
0‑L	216729	Congenitally uncorrected transposition of the great arteries with cardiac malformation	ORPHAnet
0‑L	216796	Osteogenesis imperfecta type 1	ORPHAnet
0‑L	216804	Osteogenesis imperfecta type 2	ORPHAnet
0‑L	216812	Osteogenesis imperfecta type 3	ORPHAnet
0‑L	216820	Osteogenesis imperfecta type 4	ORPHAnet
0‑L	216828	Osteogenesis imperfecta type 5	ORPHAnet
0‑L	216866	Classic pantothenate kinase-associated neurodegeneration	ORPHAnet
0‑L	216873	Atypical pantothenate kinase-associated neurodegeneration	ORPHAnet
0‑L	216972	Niemann-Pick disease type C, severe perinatal form	ORPHAnet
0‑L	216975	Niemann-Pick disease type C, severe early infantile neurologic onset	ORPHAnet
0‑L	216978	Niemann-Pick disease type C, late infantile neurologic onset	ORPHAnet
0‑L	216981	Niemann-Pick disease type C, juvenile neurologic onset	ORPHAnet
0‑L	216986	Niemann-Pick disease type C, adult neurologic onset	ORPHAnet
0‑L	217008	Bockenheimer syndrome	ORPHAnet
0‑L	217012	Spinocerebellar ataxia type 31	ORPHAnet
0‑L	217017	Zechi-Ceide syndrome	ORPHAnet
0‑L	217026	Microcephaly-facio-cardio-skeletal syndrome, Hadziselimovic type	ORPHAnet
0‑L	217055	Autosomal recessive intermediate Charcot-Marie-Tooth disease type A	ORPHAnet
0‑L	217059	Isolated congenital digital clubbing	ORPHAnet
0‑L	217064	5-fluorouracil poisoning	ORPHAnet
0‑L	217067	Pouchitis	ORPHAnet
0‑L	217080	Pulmonary fungal infections in patients deemed at risk	ORPHAnet
0‑L	217085	Mucopolysaccharidosis type 2, severe form	ORPHAnet
0‑L	217093	Mucopolysaccharidosis type 2, attenuated form	ORPHAnet
0‑L	217253	NMDA receptor encephalitis	ORPHAnet
0‑L	217260	Progressive multifocal leukoencephalopathy	ORPHAnet
0‑L	217266	BNAR syndrome	ORPHAnet
0‑L	217330	REN-related autosomal dominant tubulointerstitial kidney disease	ORPHAnet
0‑L	217335	RIN2 syndrome	ORPHAnet
0‑L	217340	17q21.31 microduplication syndrome	ORPHAnet
0‑L	217346	19q13.11 microdeletion syndrome	ORPHAnet
0‑L	217371	Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins	ORPHAnet
0‑L	217377	Microduplication Xp11.22p11.23 syndrome	ORPHAnet
0‑L	217382	Neurodegenerative syndrome due to cerebral folate transport deficiency	ORPHAnet
0‑L	217385	17p13.3 microduplication syndrome	ORPHAnet
0‑L	217390	Combined immunodeficiency due to DOCK8 deficiency	ORPHAnet
0‑L	217396	Progressive polyneuropathy with bilateral striatal necrosis	ORPHAnet
0‑L	217399	Congenital insensitivity to pain-hyperhidrosis-absence of C-fiber innervation	ORPHAnet
0‑L	217407	Hereditary hypotrichosis with recurrent skin vesicles	ORPHAnet
0‑L	217467	Hereditary thrombophilia due to congenital histidine-rich (poly-L) glycoprotein deficiency	ORPHAnet
0‑L	217557	Pulmonary interstitial glycogenosis	ORPHAnet
0‑L	217560	Neuroendocrine cell hyperplasia of infancy	ORPHAnet
0‑L	217563	Neonatal acute respiratory distress due to SP-B deficiency	ORPHAnet
0‑L	217566	Chronic respiratory distress with surfactant metabolism deficiency	ORPHAnet
0‑L	217622	Sensorineural deafness with dilated cardiomyopathy	ORPHAnet
0‑L	217656	Familial isolated arrhythmogenic right ventricular dysplasia	ORPHAnet
0‑L	220295	Xeroderma pigmentosum-Cockayne syndrome complex	ORPHAnet
0‑L	220386	Semilobar holoprosencephaly	ORPHAnet
0‑L	220393	Diffuse cutaneous systemic sclerosis	ORPHAnet
0‑L	220402	Limited cutaneous systemic sclerosis	ORPHAnet
0‑L	220407	Limited systemic sclerosis	ORPHAnet
0‑L	220436	Quebec platelet disorder	ORPHAnet
0‑L	220443	Bleeding diathesis due to thromboxane synthesis deficiency	ORPHAnet
0‑L	220448	Macrothrombocytopenia with mitral valve insufficiency	ORPHAnet
0‑L	220460	Attenuated familial adenomatous polyposis	ORPHAnet
0‑L	220465	Laron syndrome with immunodeficiency	ORPHAnet
0‑L	220493	Joubert syndrome with ocular defect	ORPHAnet
0‑L	220497	Joubert syndrome with renal defect	ORPHAnet
0‑L	221008	Rothmund-Thomson syndrome type 1	ORPHAnet
0‑L	221016	Rothmund-Thomson syndrome type 2	ORPHAnet
0‑L	221039	Hereditary sclerosing poikiloderma, Weary type	ORPHAnet
0‑L	221043	Hereditary fibrosing poikiloderma-tendon contractures-myopathy-pulmonary fibrosis syndrome	ORPHAnet
0‑L	221046	Poikiloderma with neutropenia	ORPHAnet
0‑L	221054	Acrocephalopolydactyly	ORPHAnet
0‑L	221061	Familial cerebral cavernous malformation	ORPHAnet
0‑L	221074	Marchiafava-Bignami disease	ORPHAnet
0‑L	221078	Combined hyperactive dysfunction syndrome of the cranial nerves	ORPHAnet
0‑L	221083	Hemifacial spasm	ORPHAnet
0‑L	221091	Trigeminal neuralgia	ORPHAnet
0‑L	221098	Glossopharyngeal neuralgia	ORPHAnet
0‑L	221117	Gerstmann syndrome	ORPHAnet
0‑L	221120	Pseudoaminopterin syndrome	ORPHAnet
0‑L	221126	Fowler vasculopaty	ORPHAnet
0‑L	221139	Combined immunodeficiency with faciooculoskeletal anomalies	ORPHAnet
0‑L	221142	Confetti-like macular atrophy	ORPHAnet
0‑L	221145	Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies	ORPHAnet
0‑L	225123	Hemochromatosis type 3	ORPHAnet
0‑L	225147	Sporadic infantile bilateral striatal necrosis	ORPHAnet
0‑L	225154	Familial infantile bilateral striatal necrosis	ORPHAnet
0‑L	226307	Hypothyroidism due to deficient transcription factors involved in pituitary development or function	ORPHAnet
0‑L	226313	Congenital hypothyroidism due to maternal intake of antithyroid drugs	ORPHAnet
0‑L	226316	Genetic transient congenital hypothyroidism	ORPHAnet
0‑L	227510	Multiple system atrophy, cerebellar type	ORPHAnet
0‑L	227535	Hereditary breast cancer	ORPHAnet
0‑L	227796	Fundus albipunctatus	ORPHAnet
0‑L	227972	Toxic oil syndrome	ORPHAnet
0‑L	227976	Autosomal recessive optic atrophy, OPA7 type	ORPHAnet
0‑L	227982	Autoimmune polyendocrinopathy type 3	ORPHAnet
0‑L	227990	Autoimmune polyendocrinopathy type 4	ORPHAnet
0‑L	228000	Idiopathic CD4 lymphocytopenia	ORPHAnet
0‑L	228003	Severe combined immunodeficiency due to CORO1A deficiency	ORPHAnet
0‑L	228012	Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome	ORPHAnet
0‑L	228113	Anal fistula	ORPHAnet
0‑L	228116	Hughes-Stovin syndrome	ORPHAnet
0‑L	228119	Fusariosis	ORPHAnet
0‑L	228123	Coccidioidomycosis	ORPHAnet
0‑L	228140	Idiopathic ventricular fibrillation, non Brugada type	ORPHAnet
0‑L	228157	Marburg acute multiple sclerosis	ORPHAnet
0‑L	228165	Baló concentric sclerosis	ORPHAnet
0‑L	228169	Autosomal dominant striatal neurodegeneration	ORPHAnet
0‑L	228174	Autosomal dominant Charcot-Marie-Tooth disease type 2N	ORPHAnet
0‑L	228179	Autosomal dominant Charcot-Marie-Tooth disease type 2M	ORPHAnet
0‑L	228190	Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome	ORPHAnet
0‑L	228227	Late-onset focal dermal elastosis	ORPHAnet
0‑L	228236	Linear focal elastosis	ORPHAnet
0‑L	228240	Elastoderma	ORPHAnet
0‑L	228243	Elastofibroma dorsi	ORPHAnet
0‑L	228247	Acquired pseudoxanthoma elasticum	ORPHAnet
0‑L	228254	Elastoma	ORPHAnet
0‑L	228264	Papular elastorrhexis	ORPHAnet
0‑L	228272	Primary anetoderma	ORPHAnet
0‑L	228277	Familial anetoderma	ORPHAnet
0‑L	228285	Acquired cutis laxa	ORPHAnet
0‑L	228290	White fibrous papulosis of the neck	ORPHAnet
0‑L	228293	Pseudoxanthoma elasticum-like papillary dermal elastolysis	ORPHAnet
0‑L	228299	Mid-dermal elastolysis	ORPHAnet
0‑L	228302	Carnitine palmitoyl transferase II deficiency, myopathic form	ORPHAnet
0‑L	228305	Carnitine palmitoyl transferase II deficiency, severe infantile form	ORPHAnet
0‑L	228308	Carnitine palmitoyl transferase II deficiency, neonatal form	ORPHAnet
0‑L	228329	CLN1 disease	ORPHAnet
0‑L	228337	CLN10 disease	ORPHAnet
0‑L	228340	CLN4A disease	ORPHAnet
0‑L	228343	CLN4B disease	ORPHAnet
0‑L	228346	CLN3 disease	ORPHAnet
0‑L	228349	CLN2 disease	ORPHAnet
0‑L	228354	CLN8 disease	ORPHAnet
0‑L	228357	CLN9 disease	ORPHAnet
0‑L	228360	CLN5 disease	ORPHAnet
0‑L	228363	CLN6 disease	ORPHAnet
0‑L	228366	CLN7 disease	ORPHAnet
0‑L	228371	Foodborne botulism	ORPHAnet
0‑L	228374	Charcot-Marie-Tooth disease type 2B5	ORPHAnet
0‑L	228379	Virus-associated trichodysplasia spinulosa	ORPHAnet
0‑L	228384	5q14.3 microdeletion syndrome	ORPHAnet
0‑L	228387	Spondylo-megaepiphyseal-metaphyseal dysplasia	ORPHAnet
0‑L	228390	Frontonasal dysplasia-alopecia-genital anomalies syndrome	ORPHAnet
0‑L	228396	Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome	ORPHAnet
0‑L	228399	8q12 microduplication syndrome	ORPHAnet
0‑L	228402	2q23.1 microdeletion syndrome	ORPHAnet
0‑L	228410	Polyvalvular heart disease syndrome	ORPHAnet
0‑L	228415	5q35 microduplication syndrome	ORPHAnet
0‑L	228423	Monocytopenia with susceptibility to infections	ORPHAnet
0‑L	228426	Syndromic multisystem autoimmune disease due to Itch deficiency	ORPHAnet
0‑L	229717	Isolated agammaglobulinemia	ORPHAnet
0‑L	230800	Toxin-mediated infectious botulism	ORPHAnet
0‑L	230839	Classical-like Ehlers-Danlos syndrome type 1	ORPHAnet
0‑L	230851	Cardiac-valvular Ehlers-Danlos syndrome	ORPHAnet
0‑L	230857	Ehlers-Danlos/osteogenesis imperfecta syndrome	ORPHAnet
0‑L	231013	Congenital trigeminal anesthesia	ORPHAnet
0‑L	231031	Erythema palmare hereditarium	ORPHAnet
0‑L	231040	Familial generalized lentiginosis	ORPHAnet
0‑L	231080	High-grade dysplasia in patients with Barrett esophagus	ORPHAnet
0‑L	231108	Familial rhabdoid tumor	ORPHAnet
0‑L	231111	Drug-induced lupus erythematosus	ORPHAnet
0‑L	231117	Beckwith-Wiedemann syndrome due to imprinting defect of 11p15	ORPHAnet
0‑L	231120	Beckwith-Wiedemann syndrome due to CDKN1C mutation	ORPHAnet
0‑L	231127	Beckwith-Wiedemann syndrome due to 11p15 microdeletion	ORPHAnet
0‑L	231130	Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion	ORPHAnet
0‑L	231137	Silver-Russell syndrome due to 7p11.2p13 microduplication	ORPHAnet
0‑L	231140	Silver-Russell syndrome due to an imprinting defect of 11p15	ORPHAnet
0‑L	231144	Silver-Russell syndrome due to 11p15 microduplication	ORPHAnet
0‑L	231147	Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11	ORPHAnet
0‑L	231154	Combined immunodeficiency due to partial RAG1 deficiency	ORPHAnet
0‑L	231160	Familial cerebral saccular aneurysm	ORPHAnet
0‑L	231169	Usher syndrome type 1	ORPHAnet
0‑L	231178	Usher syndrome type 2	ORPHAnet
0‑L	231183	Usher syndrome type 3	ORPHAnet
0‑L	231214	Beta-thalassemia major	ORPHAnet
0‑L	231222	Beta-thalassemia intermedia	ORPHAnet
0‑L	231226	Dominant beta-thalassemia	ORPHAnet
0‑L	231237	Delta-beta-thalassemia	ORPHAnet
0‑L	231242	Hemoglobin C-beta-thalassemia syndrome	ORPHAnet
0‑L	231249	Hemoglobin E-beta-thalassemia syndrome	ORPHAnet
0‑L	231393	Beta-thalassemia-X-linked thrombocytopenia syndrome	ORPHAnet
0‑L	231401	Alpha-thalassemia-myelodysplastic syndrome	ORPHAnet
0‑L	231426	Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome	ORPHAnet
0‑L	231445	Paraparetic variant of Guillain-Barré syndrome	ORPHAnet
0‑L	231450	Acute pure sensory neuropathy	ORPHAnet
0‑L	231457	Acute pandysautonomia	ORPHAnet
0‑L	231466	Acute sensory ataxic neuropathy	ORPHAnet
0‑L	231500	Hermansky-Pudlak syndrome due to BLOC-3 deficiency	ORPHAnet
0‑L	231512	Hermansky-Pudlak syndrome due to BLOC-2 deficiency	ORPHAnet
0‑L	231531	Hermansky-Pudlak syndrome due to BLOC-1 deficiency	ORPHAnet
0‑L	231556	Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome	ORPHAnet
0‑L	231568	Autosomal dominant generalized dystrophic epidermolysis bullosa	ORPHAnet
0‑L	231573	Congenital erosive and vesicular dermatosis	ORPHAnet
0‑L	231580	Primary unilateral adrenal hyperplasia	ORPHAnet
0‑L	231625	Adrenocortical carcinoma with pure aldosterone hypersecretion	ORPHAnet
0‑L	231632	Ectopic aldosterone-producing tumor	ORPHAnet
0‑L	231662	Isolated growth hormone deficiency type IA	ORPHAnet
0‑L	231671	Isolated growth hormone deficiency type IB	ORPHAnet
0‑L	231679	Isolated growth hormone deficiency type II	ORPHAnet
0‑L	231692	Isolated growth hormone deficiency type III	ORPHAnet
0‑L	231720	Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome	ORPHAnet
0‑L	231736	Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome	ORPHAnet
0‑L	231742	Epibulbar lipodermoid-preauricular appendage-polythelia syndrome	ORPHAnet
0‑L	238269	AApoAII amyloidosis	ORPHAnet
0‑L	238305	Infundibulo-neurohypophysitis	ORPHAnet
0‑L	238329	Severe X-linked mitochondrial encephalomyopathy	ORPHAnet
0‑L	238446	15q11q13 microduplication syndrome	ORPHAnet
0‑L	238455	Infantile dystonia-parkinsonism	ORPHAnet
0‑L	238459	SLC35A1-CDG	ORPHAnet
0‑L	238468	Hypohidrotic ectodermal dysplasia	ORPHAnet
0‑L	238475	Familial hypercholanemia	ORPHAnet
0‑L	238505	Combined immunodeficiency due to CD27 deficiency	ORPHAnet
0‑L	238523	Atypical hypotonia-cystinuria syndrome	ORPHAnet
0‑L	238557	Chuvash erythrocytosis	ORPHAnet
0‑L	238569	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome	ORPHAnet
0‑L	238578	Familial clubfoot due to 17q23.1q23.2 microduplication	ORPHAnet
0‑L	238583	Hyperphenylalaninemia due to tetrahydrobiopterin deficiency	ORPHAnet
0‑L	238593	IgG4-related mesenteritis	ORPHAnet
0‑L	238606	Primary orthostatic tremor	ORPHAnet
0‑L	238613	Beckwith-Wiedemann syndrome due to NSD1 mutation	ORPHAnet
0‑L	238621	Ileal pouch anal anastomosis related faecal incontinence	ORPHAnet
0‑L	238624	Idiopathic intracranial hypertension	ORPHAnet
0‑L	238637	Megacystis-megaureter syndrome	ORPHAnet
0‑L	238642	Primary megaureter, adult-onset form	ORPHAnet
0‑L	238646	Congenital primary megaureter, obstructed form	ORPHAnet
0‑L	238650	Congenital primary megaureter, refluxing form	ORPHAnet
0‑L	238654	Congenital primary megaureter, nonrefluxing and unobstructed form	ORPHAnet
0‑L	238666	Isolated congenital hypogonadotropic hypogonadism	ORPHAnet
0‑L	238670	Isolated thyrotropin-releasing hormone deficiency	ORPHAnet
0‑L	238688	Neonatal iodine exposure	ORPHAnet
0‑L	238722	Familial congenital mirror movements	ORPHAnet
0‑L	238744	Mammary-digital-nail syndrome	ORPHAnet
0‑L	238750	4q21 microdeletion syndrome	ORPHAnet
0‑L	238755	Autosomal dominant limb-girdle muscular dystrophy type 1H	ORPHAnet
0‑L	238763	Glaucoma secondary to spherophakia/ectopia lentis and megalocornea	ORPHAnet
0‑L	238769	1q44 microdeletion syndrome	ORPHAnet
0‑L	240071	Classic progressive supranuclear palsy syndrome	ORPHAnet
0‑L	240085	Progressive supranuclear palsy-parkinsonism syndrome	ORPHAnet
0‑L	240094	Progressive supranuclear palsy-pure akinesia with gait freezing syndrome	ORPHAnet
0‑L	240103	Progressive supranuclear palsy-corticobasal syndrome	ORPHAnet
0‑L	240112	Progressive supranuclear palsy-progressive non-fluent aphasia syndrome	ORPHAnet
0‑L	240760	Nijmegen breakage syndrome-like disorder	ORPHAnet
0‑L	243343	Dimethylglycine dehydrogenase deficiency	ORPHAnet
0‑L	243367	Acute fatty liver of pregnancy	ORPHAnet
0‑L	244242	HELLP syndrome	ORPHAnet
0‑L	244275	De novo thrombotic microangiopathy after kidney transplantation	ORPHAnet
0‑L	244283	Biliary atresia with splenic malformation syndrome	ORPHAnet
0‑L	244305	Dominant hypophosphatemia with nephrolithiasis or osteoporosis	ORPHAnet
0‑L	244310	RFT1-CDG	ORPHAnet
0‑L	247165	Infantile mercury poisoning	ORPHAnet
0‑L	247198	Progressive cerebello-cerebral atrophy	ORPHAnet
0‑L	247203	Collecting duct carcinoma	ORPHAnet
0‑L	247234	Sporadic adult-onset ataxia of unknown etiology	ORPHAnet
0‑L	247245	Superficial siderosis	ORPHAnet
0‑L	247257	Inhalational anthrax	ORPHAnet
0‑L	247262	Hyperphosphatasia-intellectual disability syndrome	ORPHAnet
0‑L	247353	Generalized pustular psoriasis	ORPHAnet
0‑L	247378	Autosomal recessive secondary polycythemia not associated with VHL gene	ORPHAnet
0‑L	247511	Autosomal dominant secondary polycythemia	ORPHAnet
0‑L	247522	Primary ciliary dyskinesia-retinitis pigmentosa syndrome	ORPHAnet
0‑L	247525	Citrullinemia type I	ORPHAnet
0‑L	247546	Acute neonatal citrullinemia type I	ORPHAnet
0‑L	247573	Adult-onset citrullinemia type I	ORPHAnet
0‑L	247585	Citrullinemia type II	ORPHAnet
0‑L	247598	Neonatal intrahepatic cholestasis due to citrin deficiency	ORPHAnet
0‑L	247604	Juvenile primary lateral sclerosis	ORPHAnet
0‑L	247623	Perinatal lethal hypophosphatasia	ORPHAnet
0‑L	247638	Prenatal benign hypophosphatasia	ORPHAnet
0‑L	247651	Infantile hypophosphatasia	ORPHAnet
0‑L	247667	Childhood-onset hypophosphatasia	ORPHAnet
0‑L	247676	Adult hypophosphatasia	ORPHAnet
0‑L	247685	Odontohypophosphatasia	ORPHAnet
0‑L	247691	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations	ORPHAnet
0‑L	247698	Multiple endocrine neoplasia type 2A	ORPHAnet
0‑L	247709	Multiple endocrine neoplasia type 2B	ORPHAnet
0‑L	247718	Inflammatory myopathy with abundant macrophages	ORPHAnet
0‑L	247724	Idiopathic eosinophilic myositis	ORPHAnet
0‑L	247762	Lipoblastoma	ORPHAnet
0‑L	247768	Müllerian aplasia and hyperandrogenism	ORPHAnet
0‑L	247775	Mayer-Rokitansky-Küster-Hauser syndrome type 1	ORPHAnet
0‑L	247790	FTH1-related iron overload	ORPHAnet
0‑L	247794	Juvenile cataract-microcornea-renal glucosuria syndrome	ORPHAnet
0‑L	247798	MUTYH-related attenuated familial adenomatous polyposis	ORPHAnet
0‑L	247806	APC-related attenuated familial adenomatous polyposis	ORPHAnet
0‑L	247815	Autosomal recessive ataxia due to PEX10 deficiency	ORPHAnet
0‑L	247820	Ectodermal dysplasia-syndactyly syndrome	ORPHAnet
0‑L	247827	Ectodermal dysplasia-cutaneous syndactyly syndrome	ORPHAnet
0‑L	247834	Occult macular dystrophy	ORPHAnet
0‑L	247868	NLRP12-associated hereditary periodic fever syndrome	ORPHAnet
0‑L	248111	Juvenile Huntington disease	ORPHAnet
0‑L	248340	Isolated delta-storage pool disease	ORPHAnet
0‑L	248408	Familial hypodysfibrinogenemia	ORPHAnet
0‑L	250831	Logopenic progressive aphasia	ORPHAnet
0‑L	250923	Isolated aniridia	ORPHAnet
0‑L	250932	Autosomal dominant optic atrophy and peripheral neuropathy	ORPHAnet
0‑L	250972	Polymicrogyria with optic nerve hypoplasia	ORPHAnet
0‑L	250977	AICA-ribosiduria	ORPHAnet
0‑L	250984	Autosomal recessive Stickler syndrome	ORPHAnet
0‑L	250989	1q21.1 microdeletion syndrome	ORPHAnet
0‑L	250994	1q21.1 microduplication syndrome	ORPHAnet
0‑L	250999	1q41q42 microdeletion syndrome	ORPHAnet
0‑L	251004	Paternal uniparental disomy of chromosome 1	ORPHAnet
0‑L	251009	Maternal uniparental disomy of chromosome 1	ORPHAnet
0‑L	251014	2q31.1 microdeletion syndrome	ORPHAnet
0‑L	251019	2q32q33 microdeletion syndrome	ORPHAnet
0‑L	251028	SATB2-associated syndrome due to a chromosomal rearrangement	ORPHAnet
0‑L	251038	3q29 microduplication syndrome	ORPHAnet
0‑L	251043	Ring chromosome 5 syndrome	ORPHAnet
0‑L	251046	6p22 microdeletion syndrome	ORPHAnet
0‑L	251056	6q25 microdeletion syndrome	ORPHAnet
0‑L	251061	7q31 microdeletion syndrome	ORPHAnet
0‑L	251066	8p11.2 deletion syndrome	ORPHAnet
0‑L	251071	8p23.1 microdeletion syndrome	ORPHAnet
0‑L	251076	8p23.1 duplication syndrome	ORPHAnet
0‑L	251262	Familial osteochondritis dissecans	ORPHAnet
0‑L	251274	Familial hyperaldosteronism type III	ORPHAnet
0‑L	251279	Microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome	ORPHAnet
0‑L	251282	Autosomal dominant spastic ataxia type 1	ORPHAnet
0‑L	251287	Benign concentric annular macular dystrophy	ORPHAnet
0‑L	251290	Parietal foramina with clavicular hypoplasia	ORPHAnet
0‑L	251295	Pigmented paravenous retinochoroidal atrophy	ORPHAnet
0‑L	251304	Infantile onset panniculitis with uveitis and systemic granulomatosis	ORPHAnet
0‑L	251307	Idiopathic recurrent pericarditis	ORPHAnet
0‑L	251325	Drug-induced vasculitis	ORPHAnet
0‑L	251328	Unclassified vasculitis	ORPHAnet
0‑L	251332	Unexplained long-lasting fever/inflammatory syndrome	ORPHAnet
0‑L	251347	Ataxia-telangiectasia-like disorder	ORPHAnet
0‑L	251359	Sickle cell-beta-thalassemia disease syndrome	ORPHAnet
0‑L	251365	Sickle cell-hemoglobin C disease syndrome	ORPHAnet
0‑L	251370	Sickle cell-hemoglobin D disease syndrome	ORPHAnet
0‑L	251375	Sickle cell-hemoglobin E disease syndrome	ORPHAnet
0‑L	251380	Hereditary persistence of fetal hemoglobin-sickle cell disease syndrome	ORPHAnet
0‑L	251383	CK syndrome	ORPHAnet
0‑L	251393	Localized junctional epidermolysis bullosa	ORPHAnet
0‑L	251510	46,XY partial gonadal dysgenesis	ORPHAnet
0‑L	251515	Distal arthrogryposis type 10	ORPHAnet
0‑L	251523	Hyperzincemia and hypercalprotectinemia	ORPHAnet
0‑L	251576	Gliosarcoma	ORPHAnet
0‑L	251579	Giant cell glioblastoma	ORPHAnet
0‑L	251582	Gliomatosis cerebri	ORPHAnet
0‑L	251589	Anaplastic astrocytoma	ORPHAnet
0‑L	251595	Diffuse astrocytoma	ORPHAnet
0‑L	251598	Protoplasmic astrocytoma	ORPHAnet
0‑L	251601	Fibrillary astrocytoma	ORPHAnet
0‑L	251604	Gemistocytic astrocytoma	ORPHAnet
0‑L	251607	Pleomorphic xanthoastrocytoma	ORPHAnet
0‑L	251612	Pilocytic astrocytoma	ORPHAnet
0‑L	251615	Pilomyxoid astrocytoma	ORPHAnet
0‑L	251618	Subependymal giant cell astrocytoma	ORPHAnet
0‑L	251623	Pituicytoma	ORPHAnet
0‑L	251627	Oligodendroglioma	ORPHAnet
0‑L	251630	Anaplastic oligodendroglioma	ORPHAnet
0‑L	251636	Ependymoma	ORPHAnet
0‑L	251639	Subependymoma	ORPHAnet
0‑L	251643	Myxopapillary ependymoma	ORPHAnet
0‑L	251646	Anaplastic ependymoma	ORPHAnet
0‑L	251656	Oligoastrocytoma	ORPHAnet
0‑L	251663	Anaplastic oligoastrocytoma	ORPHAnet
0‑L	251671	Angiocentric glioma	ORPHAnet
0‑L	251674	Chordoid glioma	ORPHAnet
0‑L	251679	Astroblastoma	ORPHAnet
0‑L	251855	Anaplastic/large cell medulloblastoma	ORPHAnet
0‑L	251858	Medulloblastoma with extensive nodularity	ORPHAnet
0‑L	251863	Desmoplastic/nodular medulloblastoma	ORPHAnet
0‑L	251867	Classic medulloblastoma	ORPHAnet
0‑L	251877	Ganglioneuroblastoma	ORPHAnet
0‑L	251880	Ependymoblastoma	ORPHAnet
0‑L	251883	Medulloepithelioma of the central nervous system	ORPHAnet
0‑L	251899	Choroid plexus carcinoma	ORPHAnet
0‑L	251902	Atypical papilloma of choroid plexus	ORPHAnet
0‑L	251909	Pineoblastoma	ORPHAnet
0‑L	251912	Pineocytoma	ORPHAnet
0‑L	251915	Papillary tumor of the pineal region	ORPHAnet
0‑L	251919	Pineal parenchymal tumor of intermediate differenciation	ORPHAnet
0‑L	251927	Extraventricular neurocytoma	ORPHAnet
0‑L	251931	Cerebellar liponeurocytoma	ORPHAnet
0‑L	251937	Gangliocytoma	ORPHAnet
0‑L	251940	Desmoplastic infantile astrocytoma/ganglioglioma	ORPHAnet
0‑L	251946	Dysembryoplastic neuroepithelial tumor	ORPHAnet
0‑L	251949	Ganglioglioma	ORPHAnet
0‑L	251957	Anaplastic ganglioglioma	ORPHAnet
0‑L	251962	Papillary glioneuronal tumor	ORPHAnet
0‑L	251975	Rosette-forming glioneuronal tumor	ORPHAnet
0‑L	251992	Ganglioneuroma	ORPHAnet
0‑L	252006	Yolk sac tumor of central nervous system	ORPHAnet
0‑L	252015	Choriocarcinoma of the central nervous system	ORPHAnet
0‑L	252018	Teratoma of the central nervous system	ORPHAnet
0‑L	252021	Mixed germ cell tumor of central nervous system	ORPHAnet
0‑L	252031	Diffuse leptomeningeal melanocytosis	ORPHAnet
0‑L	252046	Meningeal melanocytoma	ORPHAnet
0‑L	252050	Primary melanoma of the central nervous system	ORPHAnet
0‑L	252054	Hemangioblastoma	ORPHAnet
0‑L	252128	Malignant peripheral nerve sheath tumor with perineurial differentiation	ORPHAnet
0‑L	252164	Benign schwannoma	ORPHAnet
0‑L	252175	Vestibular schwannoma	ORPHAnet
0‑L	252183	Neurofibroma	ORPHAnet
0‑L	252202	Constitutional mismatch repair deficiency syndrome	ORPHAnet
0‑L	252206	Melanoma and neural system tumor syndrome	ORPHAnet
0‑L	252212	Malignant triton tumor	ORPHAnet
0‑L	254334	Autosomal recessive intermediate Charcot-Marie-Tooth disease type B	ORPHAnet
0‑L	254343	Autosomal recessive spastic ataxia-optic atrophy-dysarthria syndrome	ORPHAnet
0‑L	254346	19p13.12 microdeletion syndrome	ORPHAnet
0‑L	254351	Distal 7q11.23 microdeletion syndrome	ORPHAnet
0‑L	254361	Plectin-related limb-girdle muscular dystrophy R17	ORPHAnet
0‑L	254379	Linear lichen planus	ORPHAnet
0‑L	254395	Actinic lichen planus	ORPHAnet
0‑L	254411	Annular atrophic lichen planus	ORPHAnet
0‑L	254424	Annular lichen planus	ORPHAnet
0‑L	254449	Atrophic lichen planus	ORPHAnet
0‑L	254463	Lichen planus pigmentosus	ORPHAnet
0‑L	254478	Lichen planus pemphigoides	ORPHAnet
0‑L	254492	Frontal fibrosing alopecia	ORPHAnet
0‑L	254504	Inhalational botulism	ORPHAnet
0‑L	254509	Iatrogenic botulism	ORPHAnet
0‑L	254516	Temple syndrome	ORPHAnet
0‑L	254519	Kagami-Ogata syndrome	ORPHAnet
0‑L	254525	Temple syndrome due to paternal 14q32.2 microdeletion	ORPHAnet
0‑L	254528	Kagami-Ogata syndrome due to maternal 14q32.2 microdeletion	ORPHAnet
0‑L	254531	Temple syndrome due to paternal 14q32.2 hypomethylation	ORPHAnet
0‑L	254534	Kagami-Ogata syndrome due to maternal 14q32.2 hypermethylation	ORPHAnet
0‑L	254688	Complete hydatidiform mole	ORPHAnet
0‑L	254693	Partial hydatidiform mole	ORPHAnet
0‑L	254698	Epithelioid trophoblastic tumor	ORPHAnet
0‑L	254704	Genetic hyperferritinemia without iron overload	ORPHAnet
0‑L	254851	Mitochondrial DNA-related dystonia	ORPHAnet
0‑L	254854	Pure mitochondrial myopathy	ORPHAnet
0‑L	254857	Lethal infantile mitochondrial myopathy	ORPHAnet
0‑L	254864	Mitochondrial myopathy with reversible cytochrome C oxidase deficiency	ORPHAnet
0‑L	254875	Mitochondrial DNA depletion syndrome, myopathic form	ORPHAnet
0‑L	254881	Spinocerebellar ataxia with epilepsy	ORPHAnet
0‑L	254886	Autosomal recessive progressive external ophthalmoplegia	ORPHAnet
0‑L	254892	Autosomal dominant progressive external ophthalmoplegia	ORPHAnet
0‑L	254898	Deafness-encephaloneuropathy-obesity-valvulopathy syndrome	ORPHAnet
0‑L	254902	Renal tubulopathy-encephalopathy-liver failure syndrome	ORPHAnet
0‑L	254905	Isolated cytochrome C oxidase deficiency	ORPHAnet
0‑L	254913	Isolated ATP synthase deficiency	ORPHAnet
0‑L	254920	Combined oxidative phosphorylation defect type 2	ORPHAnet
0‑L	254925	Combined oxidative phosphorylation defect type 4	ORPHAnet
0‑L	254930	Combined oxidative phosphorylation defect type 7	ORPHAnet
0‑L	255132	Adult-onset autosomal recessive sideroblastic anemia	ORPHAnet
0‑L	255138	Pyruvate dehydrogenase E1-beta deficiency	ORPHAnet
0‑L	255182	Pyruvate dehydrogenase E3-binding protein deficiency	ORPHAnet
0‑L	255210	Mitochondrial DNA-associated Leigh syndrome	ORPHAnet
0‑L	255229	Navajo neurohepatopathy	ORPHAnet
0‑L	255235	Mitochondrial DNA depletion syndrome, encephalomyopathic form with renal tubulopathy	ORPHAnet
0‑L	255241	Leigh syndrome with leukodystrophy	ORPHAnet
0‑L	255249	Leigh syndrome with nephrotic syndrome	ORPHAnet
0‑L	260305	Autosomal recessive sideroblastic anemia	ORPHAnet
0‑L	261102	Distal 7q11.23 microduplication syndrome	ORPHAnet
0‑L	261112	Monosomy 9p	ORPHAnet
0‑L	261120	14q11.2 microdeletion syndrome	ORPHAnet
0‑L	261144	FOXG1 syndrome due to 14q12 microdeletion	ORPHAnet
0‑L	261183	15q11.2 microdeletion syndrome	ORPHAnet
0‑L	261190	15q14 microdeletion syndrome	ORPHAnet
0‑L	261197	Proximal 16p11.2 microdeletion syndrome	ORPHAnet
0‑L	261204	16p11.2p12.2 microduplication syndrome	ORPHAnet
0‑L	261211	16p11.2p12.2 microdeletion syndrome	ORPHAnet
0‑L	261222	Distal 16p11.2 microdeletion syndrome	ORPHAnet
0‑L	261229	14q11.2 microduplication syndrome	ORPHAnet
0‑L	261236	16p13.11 microdeletion syndrome	ORPHAnet
0‑L	261243	16p13.11 microduplication syndrome	ORPHAnet
0‑L	261250	16q24.3 microdeletion syndrome	ORPHAnet
0‑L	261257	Distal 17p13.3 microdeletion syndrome	ORPHAnet
0‑L	261265	17q12 microdeletion syndrome	ORPHAnet
0‑L	261272	17q12 microduplication syndrome	ORPHAnet
0‑L	261279	17q23.1q23.2 microdeletion syndrome	ORPHAnet
0‑L	261290	Trisomy 17p	ORPHAnet
0‑L	261295	20p12.3 microdeletion syndrome	ORPHAnet
0‑L	261304	Paternal 20q13.2q13.3 microdeletion syndrome	ORPHAnet
0‑L	261311	20q13.33 microdeletion syndrome	ORPHAnet
0‑L	261318	Trisomy 20p	ORPHAnet
0‑L	261323	21q22.11q22.12 microdeletion syndrome	ORPHAnet
0‑L	261330	Distal 22q11.2 microdeletion syndrome	ORPHAnet
0‑L	261337	Distal 22q11.2 microduplication syndrome	ORPHAnet
0‑L	261344	Trisomy 1q	ORPHAnet
0‑L	261349	2p15p16.1 microdeletion syndrome	ORPHAnet
0‑L	261476	Xp21 deletion syndrome	ORPHAnet
0‑L	261483	Xq27.3q28 duplication syndrome	ORPHAnet
0‑L	261494	Kleefstra syndrome	ORPHAnet
0‑L	261501	Atypical Norrie disease due to Xp11.3 microdeletion	ORPHAnet
0‑L	261519	Maternal uniparental disomy of chromosome X	ORPHAnet
0‑L	261524	Paternal uniparental disomy of chromosome X	ORPHAnet
0‑L	261529	Ring chromosome Y syndrome	ORPHAnet
0‑L	261534	49,XXXYY syndrome	ORPHAnet
0‑L	261537	Mowat-Wilson syndrome due to monosomy 2q22	ORPHAnet
0‑L	261552	Mowat-Wilson syndrome due to a ZEB2 point mutation	ORPHAnet
0‑L	261584	Familial adenomatous polyposis due to 5q22.2 microdeletion	ORPHAnet
0‑L	261600	Alagille syndrome due to 20p12 microdeletion	ORPHAnet
0‑L	261619	Alagille syndrome due to a JAG1 point mutation	ORPHAnet
0‑L	261629	Alagille syndrome due to a NOTCH2 point mutation	ORPHAnet
0‑L	261638	Okihiro syndrome due to 20q13 microdeletion	ORPHAnet
0‑L	261647	Okihiro syndrome due to a point mutation	ORPHAnet
0‑L	261652	Kleefstra syndrome due to a point mutation	ORPHAnet
0‑L	263297	Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency	ORPHAnet
0‑L	263310	Thymoma type A	ORPHAnet
0‑L	263317	Thymoma type B	ORPHAnet
0‑L	263324	Thymoma type AB	ORPHAnet
0‑L	263331	Well-differentiated thymic neuroendocrine carcinoma	ORPHAnet
0‑L	263335	Moderately-differentiated thymic neuroendocrine carcinoma	ORPHAnet
0‑L	263339	Poorly differentiated thymic neuroendocrine carcinoma	ORPHAnet
0‑L	263347	MRCS syndrome	ORPHAnet
0‑L	263352	Postcardiotomy right ventricular failure	ORPHAnet
0‑L	263410	Infantile spasms-psychomotor retardation-progressive brain atrophy-basal ganglia disease syndrome	ORPHAnet
0‑L	263413	Angiosarcoma	ORPHAnet
0‑L	263425	Nevus of Ota	ORPHAnet
0‑L	263432	Nevus of Ito	ORPHAnet
0‑L	263435	Congenital smooth muscle hamartoma	ORPHAnet
0‑L	263455	Hyperinsulinism due to HNF4A deficiency	ORPHAnet
0‑L	263458	Hyperinsulinism due to INSR deficiency	ORPHAnet
0‑L	263463	CHST3-related skeletal dysplasia	ORPHAnet
0‑L	263479	Fuchs heterochromic iridocyclitis	ORPHAnet
0‑L	263482	Spondyloepiphyseal dysplasia, Maroteaux type	ORPHAnet
0‑L	263487	COG5-CDG	ORPHAnet
0‑L	263494	DPM3-CDG	ORPHAnet
0‑L	263501	COG4-CDG	ORPHAnet
0‑L	263508	COG1-CDG	ORPHAnet
0‑L	263516	Progressive myoclonic epilepsy type 3	ORPHAnet
0‑L	263524	Acute necrotizing encephalopathy of childhood	ORPHAnet
0‑L	263534	Acral peeling skin syndrome	ORPHAnet
0‑L	263543	Generalized peeling skin syndrome	ORPHAnet
0‑L	263548	Peeling skin syndrome type A	ORPHAnet
0‑L	263553	Peeling skin syndrome type B	ORPHAnet
0‑L	263558	Peeling skin syndrome type C	ORPHAnet
0‑L	263662	Familial multiple meningioma	ORPHAnet
0‑L	263665	NK-cell enteropathy	ORPHAnet
0‑L	264200	14q22q23 microdeletion syndrome	ORPHAnet
0‑L	264450	Trisomy 8p	ORPHAnet
0‑L	264580	Glycogen storage disease due to liver phosphorylase kinase deficiency	ORPHAnet
0‑L	264675	Hereditary pulmonary alveolar proteinosis	ORPHAnet
0‑L	264688	Congenital chylothorax	ORPHAnet
0‑L	264691	Isolated pulmonary capillaritis	ORPHAnet
0‑L	264978	Drug or radiation exposure-related interstitial lung disease	ORPHAnet
0‑L	268114	RAS-associated autoimmune leukoproliferative disease	ORPHAnet
0‑L	268129	Spheroid body myopathy	ORPHAnet
0‑L	268139	Intraocular medulloepithelioma	ORPHAnet
0‑L	268145	Classic maple syrup urine disease	ORPHAnet
0‑L	268162	Intermediate maple syrup urine disease	ORPHAnet
0‑L	268173	Intermittent maple syrup urine disease	ORPHAnet
0‑L	268184	Thiamine-responsive maple syrup urine disease	ORPHAnet
0‑L	268249	Mycophenolate mofetil embryopathy	ORPHAnet
0‑L	268261	DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion	ORPHAnet
0‑L	268316	Complication in hemodialysis	ORPHAnet
0‑L	268322	Hereditary thrombocytopenia with normal platelets	ORPHAnet
0‑L	268363	Open iniencephaly	ORPHAnet
0‑L	268366	Closed iniencephaly	ORPHAnet
0‑L	268369	Spina bifida aperta	ORPHAnet
0‑L	268377	Total spina bifida aperta	ORPHAnet
0‑L	268384	Thoracolumbosacral spina bifida aperta	ORPHAnet
0‑L	268388	Lumbosacral spina bifida aperta	ORPHAnet
0‑L	268392	Cervical spina bifida aperta	ORPHAnet
0‑L	268397	Cervicothoracic spina bifida aperta	ORPHAnet
0‑L	268740	Upper thoracic spina bifida aperta	ORPHAnet
0‑L	268748	Total spina bifida cystica	ORPHAnet
0‑L	268752	Thoracolumbosacral spina bifida cystica	ORPHAnet
0‑L	268758	Lumbosacral spina bifida cystica	ORPHAnet
0‑L	268762	Cervical spina bifida cystica	ORPHAnet
0‑L	268766	Cervicothoracic spina bifida cystica	ORPHAnet
0‑L	268770	Upper thoracic spina bifida cystica	ORPHAnet
0‑L	268810	Posterior meningocele	ORPHAnet
0‑L	268813	Myelocystocele	ORPHAnet
0‑L	268820	Cranial meningocele	ORPHAnet
0‑L	268823	Occipital encephalocele	ORPHAnet
0‑L	268826	Parietal encephalocele	ORPHAnet
0‑L	268829	Basal encephalocele	ORPHAnet
0‑L	268835	Lipomyelomeningocele	ORPHAnet
0‑L	268838	Leptomyelolipoma	ORPHAnet
0‑L	268861	Primary tethered cord syndrome	ORPHAnet
0‑L	268865	Neurenteric cyst	ORPHAnet
0‑L	268868	Isolated amyelia	ORPHAnet
0‑L	268882	Arnold-Chiari malformation type I	ORPHAnet
0‑L	268920	Isolated megalencephaly	ORPHAnet
0‑L	268936	Isolated arhinencephaly	ORPHAnet
0‑L	268940	Bilateral polymicrogyria	ORPHAnet
0‑L	268943	Unilateral polymicrogyria	ORPHAnet
0‑L	268947	Unilateral focal polymicrogyria	ORPHAnet
0‑L	268961	Isolated focal cortical dysplasia type I	ORPHAnet
0‑L	268973	Isolated focal cortical dysplasia type Ia	ORPHAnet
0‑L	268980	Isolated focal cortical dysplasia type Ib	ORPHAnet
0‑L	268987	Isolated focal cortical dysplasia type Ic	ORPHAnet
0‑L	268994	Isolated focal cortical dysplasia type II	ORPHAnet
0‑L	269001	Isolated focal cortical dysplasia type IIa	ORPHAnet
0‑L	269008	Isolated focal cortical dysplasia type IIb	ORPHAnet
0‑L	269197	Glioependymal/ependymal cyst	ORPHAnet
0‑L	269203	Isolated cerebellar vermis agenesis	ORPHAnet
0‑L	269206	Isolated total cerebellar vermis agenesis	ORPHAnet
0‑L	269209	Isolated partial cerebellar vermis agenesis	ORPHAnet
0‑L	269212	Isolated Dandy-Walker malformation with hydrocephalus	ORPHAnet
0‑L	269215	Isolated Dandy-Walker malformation without hydrocephalus	ORPHAnet
0‑L	269218	Isolated unilateral hemispheric cerebellar hypoplasia	ORPHAnet
0‑L	269221	Isolated bilateral hemispheric cerebellar hypoplasia	ORPHAnet
0‑L	269229	Pontine tegmental cap dysplasia	ORPHAnet
0‑L	269505	Congenital communicating hydrocephalus	ORPHAnet
0‑L	269510	Congenital non-communicating hydrocephalus	ORPHAnet
0‑L	275517	Autoimmune lymphoproliferative syndrome with recurrent viral infections	ORPHAnet
0‑L	275523	Dianzani autoimmune lymphoproliferative disease	ORPHAnet
0‑L	275534	Myostatin-related muscle hypertrophy	ORPHAnet
0‑L	275543	L1 syndrome	ORPHAnet
0‑L	275555	Preeclampsia	ORPHAnet
0‑L	275761	Lysosomal acid lipase deficiency	ORPHAnet
0‑L	275766	Idiopathic pulmonary arterial hypertension	ORPHAnet
0‑L	275777	Heritable pulmonary arterial hypertension	ORPHAnet
0‑L	275864	Behavioral variant of frontotemporal dementia	ORPHAnet
0‑L	275872	Frontotemporal dementia with motor neuron disease	ORPHAnet
0‑L	275944	Hemolytic disease of the newborn with Kell alloimmunization	ORPHAnet
0‑L	276066	Bile acid CoA ligase deficiency and defective amidation	ORPHAnet
0‑L	276145	Malignant epithelial tumor of salivary glands	ORPHAnet
0‑L	276148	Benign epithelial tumor of salivary glands	ORPHAnet
0‑L	276152	Multiple endocrine neoplasia type 4	ORPHAnet
0‑L	276174	Idiopathic recurrent stupor	ORPHAnet
0‑L	276183	Spinocerebellar ataxia type 32	ORPHAnet
0‑L	276193	Spinocerebellar ataxia type 35	ORPHAnet
0‑L	276198	Spinocerebellar ataxia type 36	ORPHAnet
0‑L	276212	Mucopolysaccharidosis type 6, rapidly progressing	ORPHAnet
0‑L	276223	Mucopolysaccharidosis type 6, slowly progressing	ORPHAnet
0‑L	276234	Non-syndromic male infertility due to sperm motility disorder	ORPHAnet
0‑L	276238	Machado-Joseph disease type 1	ORPHAnet
0‑L	276241	Machado-Joseph disease type 2	ORPHAnet
0‑L	276244	Machado-Joseph disease type 3	ORPHAnet
0‑L	276280	Hemihyperplasia-multiple lipomatosis syndrome	ORPHAnet
0‑L	276399	Familial multinodular goiter	ORPHAnet
0‑L	276405	Hyperbiliverdinemia	ORPHAnet
0‑L	276413	10q22.3q23.3 microdeletion syndrome	ORPHAnet
0‑L	276422	10q22.3q23.3 microduplication syndrome	ORPHAnet
0‑L	276429	Hypnic headache	ORPHAnet
0‑L	276432	Ogden syndrome	ORPHAnet
0‑L	276435	Lower motor neuron syndrome with late-adult onset	ORPHAnet
0‑L	276556	Hyperinsulinism due to UCP2 deficiency	ORPHAnet
0‑L	276575	Autosomal dominant hyperinsulinism due to SUR1 deficiency	ORPHAnet
0‑L	276580	Autosomal dominant hyperinsulinism due to Kir6.2 deficiency	ORPHAnet
0‑L	276598	Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency	ORPHAnet
0‑L	276603	Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency	ORPHAnet
0‑L	276608	Non-insulinoma pancreatogenous hypoglycemia syndrome	ORPHAnet
0‑L	276621	Sporadic pheochromocytoma/secreting paraganglioma	ORPHAnet
0‑L	276630	Symptomatic form of Coffin-Lowry syndrome in female carriers	ORPHAnet
0‑L	279882	Spasmus nutans	ORPHAnet
0‑L	279888	Acute endophthalmitis	ORPHAnet
0‑L	279891	Chronic endophthalmitis	ORPHAnet
0‑L	279894	Toxic maculopathy due to antimalarial drugs	ORPHAnet
0‑L	279897	Primary oculocerebral lymphoma	ORPHAnet
0‑L	279904	Primary intraocular lymphoma	ORPHAnet
0‑L	279914	Intermediate uveitis	ORPHAnet
0‑L	279919	Infectious posterior uveitis	ORPHAnet
0‑L	279922	Infectious anterior uveitis	ORPHAnet
0‑L	279925	Infectious panuveitis	ORPHAnet
0‑L	279928	Paraneoplastic uveitis	ORPHAnet
0‑L	279934	Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency	ORPHAnet
0‑L	279943	Hereditary neutrophilia	ORPHAnet
0‑L	279947	Postorgasmic illness syndrome	ORPHAnet
0‑L	280062	Calciphylaxis	ORPHAnet
0‑L	280065	Calciphylaxis cutis	ORPHAnet
0‑L	280068	Visceral calciphylaxis	ORPHAnet
0‑L	280071	ALG11-CDG	ORPHAnet
0‑L	280133	Complement component 3 deficiency	ORPHAnet
0‑L	280142	Severe combined immunodeficiency due to LCK deficiency	ORPHAnet
0‑L	280183	Methylmalonic aciduria due to transcobalamin receptor defect	ORPHAnet
0‑L	280195	Septopreoptic holoprosencephaly	ORPHAnet
0‑L	280200	Microform holoprosencephaly	ORPHAnet
0‑L	280205	Laryngotracheoesophageal cleft type 0	ORPHAnet
0‑L	280210	Pelizaeus-Merzbacher disease, connatal form	ORPHAnet
0‑L	280219	Pelizaeus-Merzbacher disease, classic form	ORPHAnet
0‑L	280224	Pelizaeus-Merzbacher disease, transitional form	ORPHAnet
0‑L	280229	Pelizaeus-Merzbacher disease in female carriers	ORPHAnet
0‑L	280234	Null syndrome	ORPHAnet
0‑L	280270	Pelizaeus-Merzbacher-like disease	ORPHAnet
0‑L	280282	Pelizaeus-Merzbacher-like disease due to GJC2 mutation	ORPHAnet
0‑L	280288	Pelizaeus-Merzbacher-like disease due to HSPD1 mutation	ORPHAnet
0‑L	280293	Pelizaeus-Merzbacher-like disease due to AIMP1 mutation	ORPHAnet
0‑L	280302	Autoimmune pancreatitis type 1	ORPHAnet
0‑L	280315	Autoimmune pancreatitis type 2	ORPHAnet
0‑L	280325	Distal monosomy 12p	ORPHAnet
0‑L	280333	Alpha-dystroglycan-related limb-girdle muscular dystrophy R16	ORPHAnet
0‑L	280356	PLIN1-related familial partial lipodystrophy	ORPHAnet
0‑L	280365	Autosomal semi-dominant severe lipodystrophic laminopathy	ORPHAnet
0‑L	280379	Erythropoietic uroporphyria associated with myeloid malignancy	ORPHAnet
0‑L	280384	Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome	ORPHAnet
0‑L	280397	Familial Alzheimer-like prion disease	ORPHAnet
0‑L	280403	Familial omphalocele syndrome with facial dysmorphism	ORPHAnet
0‑L	280406	Familial steroid-resistant nephrotic syndrome with sensorineural deafness	ORPHAnet
0‑L	280553	Fatal infantile hypertonic myofibrillar myopathy	ORPHAnet
0‑L	280558	Warsaw breakage syndrome	ORPHAnet
0‑L	280576	Nestor-Guillermo progeria syndrome	ORPHAnet
0‑L	280586	Chondrodysplasia with joint dislocations, gPAPP type	ORPHAnet
0‑L	280598	Hereditary sensorimotor neuropathy with hyperelastic skin	ORPHAnet
0‑L	280615	Hemoglobinopathy Toms River	ORPHAnet
0‑L	280620	Progressive myoclonic epilepsy type 6	ORPHAnet
0‑L	280628	Familial progressive hyper- and hypopigmentation	ORPHAnet
0‑L	280633	Multiple congenital anomalies-hypotonia-seizures syndrome	ORPHAnet
0‑L	280640	Occipital pachygyria and polymicrogyria	ORPHAnet
0‑L	280651	Acrodysostosis with multiple hormone resistance	ORPHAnet
0‑L	280654	Autosomal recessive nail dysplasia	ORPHAnet
0‑L	280671	Megaconial congenital muscular dystrophy	ORPHAnet
0‑L	280679	Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome	ORPHAnet
0‑L	280763	Severe intellectual disability and progressive spastic paraplegia	ORPHAnet
0‑L	280774	Generalized essential telangiectasia	ORPHAnet
0‑L	280779	Cutaneous collagenous vasculopathy	ORPHAnet
0‑L	280785	Bullous diffuse cutaneous mastocytosis	ORPHAnet
0‑L	280794	Pseudoxanthomatous diffuse cutaneous mastocytosis	ORPHAnet
0‑L	280802	Intralobar congenital pulmonary sequestration	ORPHAnet
0‑L	280811	Extralobar congenital pulmonary sequestration	ORPHAnet
0‑L	280821	Communicating congenital bronchopulmonary-foregut malformation	ORPHAnet
0‑L	280827	Congenital pulmonary airway malformation type 0	ORPHAnet
0‑L	280832	Congenital pulmonary airway malformation type 1	ORPHAnet
0‑L	280840	Congenital pulmonary airway malformation type 2	ORPHAnet
0‑L	280847	Congenital pulmonary airway malformation type 3	ORPHAnet
0‑L	280854	Congenital pulmonary airway malformation type 4	ORPHAnet
0‑L	280914	Idiopathic anterior uveitis	ORPHAnet
0‑L	280917	Idiopathic posterior uveitis	ORPHAnet
0‑L	280921	Idiopathic panuveitis	ORPHAnet
0‑L	281090	Syndromic recessive X-linked ichthyosis	ORPHAnet
0‑L	281122	Self-improving collodion baby	ORPHAnet
0‑L	281127	Acral self-healing collodion baby	ORPHAnet
0‑L	281139	Annular epidermolytic ichthyosis	ORPHAnet
0‑L	281190	Congenital reticular ichthyosiform erythroderma	ORPHAnet
0‑L	281201	Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome	ORPHAnet
0‑L	282166	Inherited Creutzfeldt-Jakob disease	ORPHAnet
0‑L	284139	Larsen-like syndrome, B3GAT3 type	ORPHAnet
0‑L	284149	Craniosynostosis-dental anomalies	ORPHAnet
0‑L	284160	8q21.11 microdeletion syndrome	ORPHAnet
0‑L	284169	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to 10p11.21p12.31 microdeletion	ORPHAnet
0‑L	284180	Xp22.13p22.2 duplication syndrome	ORPHAnet
0‑L	284227	TEMPI syndrome	ORPHAnet
0‑L	284232	Autosomal dominant Charcot-Marie-Tooth disease type 2O	ORPHAnet
0‑L	284247	Familial retinal arterial macroaneurysm	ORPHAnet
0‑L	284271	Autosomal recessive cerebellar ataxia-psychomotor delay syndrome	ORPHAnet
0‑L	284282	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to WWOX deficiency	ORPHAnet
0‑L	284289	Adult-onset autosomal recessive cerebellar ataxia	ORPHAnet
0‑L	284324	Childhood-onset autosomal recessive slowly progressive spinocerebellar ataxia	ORPHAnet
0‑L	284332	Infantile-onset autosomal recessive nonprogressive cerebellar ataxia	ORPHAnet
0‑L	284339	Pontocerebellar hypoplasia type 7	ORPHAnet
0‑L	284343	Pleuropulmonary blastoma familial tumor susceptibility syndrome	ORPHAnet
0‑L	284362	Fetal lung interstitial tumor	ORPHAnet
0‑L	284388	Reversible cerebral vasoconstriction syndrome	ORPHAnet
0‑L	284395	Well-differentiated fetal adenocarcinoma of the lung	ORPHAnet
0‑L	284400	Small cell carcinoma of the bladder	ORPHAnet
0‑L	284411	Glycerol kinase deficiency, juvenile form	ORPHAnet
0‑L	284414	Glycerol kinase deficiency, adult form	ORPHAnet
0‑L	284417	Phosphoserine aminotransferase deficiency, infantile/juvenile form	ORPHAnet
0‑L	284426	Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency	ORPHAnet
0‑L	284435	Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency	ORPHAnet
0‑L	284448	CLIPPERS	ORPHAnet
0‑L	284454	Acute zonal occult outer retinopathy	ORPHAnet
0‑L	284460	Acute annular outer retinopathy	ORPHAnet
0‑L	284963	Marfan syndrome type 1	ORPHAnet
0‑L	284973	Marfan syndrome type 2	ORPHAnet
0‑L	284979	Neonatal Marfan syndrome	ORPHAnet
0‑L	284984	Aneurysm-osteoarthritis syndrome	ORPHAnet
0‑L	289157	Hypocalcemic vitamin D-dependent rickets	ORPHAnet
0‑L	289176	Autosomal recessive hypophosphatemic rickets	ORPHAnet
0‑L	289266	Early-onset epileptic encephalopathy and intellectual disability due to GRIN2A mutation	ORPHAnet
0‑L	289290	Hypermethioninemia encephalopathy due to adenosine kinase deficiency	ORPHAnet
0‑L	289307	Developmental delay due to methylmalonate semialdehyde dehydrogenase deficiency	ORPHAnet
0‑L	289326	Tropical spastic paraparesis	ORPHAnet
0‑L	289347	Infective dermatitis associated with HTLV-1	ORPHAnet
0‑L	289356	Primary non-gestational choriocarcinoma of ovary	ORPHAnet
0‑L	289362	Non-central nervous system-localized embryonal carcinoma	ORPHAnet
0‑L	289365	Familial vesicoureteral reflux	ORPHAnet
0‑L	289377	Early-onset myopathy with fatal cardiomyopathy	ORPHAnet
0‑L	289380	Myosclerosis	ORPHAnet
0‑L	289385	Malignancy diagnosed during pregnancy	ORPHAnet
0‑L	289390	Primary Sjögren syndrome	ORPHAnet
0‑L	289465	Isolated congenital adermatoglyphia	ORPHAnet
0‑L	289478	Pyoderma gangrenosum-acne-suppurative hidradenitis syndrome	ORPHAnet
0‑L	289483	Intellectual disability-alacrima-achalasia syndrome	ORPHAnet
0‑L	289494	4H leukodystrophy	ORPHAnet
0‑L	289499	Congenital cataract microcornea with corneal opacity	ORPHAnet
0‑L	289504	Combined malonic and methylmalonic acidemia	ORPHAnet
0‑L	289513	12q15q21.1 microdeletion syndrome	ORPHAnet
0‑L	289522	Microtriplication 11q24.1	ORPHAnet
0‑L	289539	BAP1-related tumor predisposition syndrome	ORPHAnet
0‑L	289548	Inherited isolated adrenal insufficiency due to partial CYP11A1 deficiency	ORPHAnet
0‑L	289553	Dysmorphism-conductive hearing loss-heart defect syndrome	ORPHAnet
0‑L	289560	Mitochondrial membrane protein-associated neurodegeneration	ORPHAnet
0‑L	289586	Exfoliative ichthyosis	ORPHAnet
0‑L	289596	Juvenile nasopharyngeal angiofibroma	ORPHAnet
0‑L	289601	Hereditary arterial and articular multiple calcification syndrome	ORPHAnet
0‑L	289661	Epstein-Barr virus-positive diffuse large B-cell lymphoma of the elderly	ORPHAnet
0‑L	289666	Plasmablastic lymphoma	ORPHAnet
0‑L	289682	Lymphoepithelial-like carcinoma	ORPHAnet
0‑L	289685	Myopericytoma	ORPHAnet
0‑L	289846	Glutathione synthetase deficiency with 5-oxoprolinuria	ORPHAnet
0‑L	289849	Glutathione synthetase deficiency without 5-oxoprolinuria	ORPHAnet
0‑L	289857	Neonatal glycine encephalopathy	ORPHAnet
0‑L	289860	Infantile glycine encephalopathy	ORPHAnet
0‑L	289863	Atypical glycine encephalopathy	ORPHAnet
0‑L	289877	Transient hyperammonemia of the newborn	ORPHAnet
0‑L	289891	Hypermethioninemia due to glycine N-methyltransferase deficiency	ORPHAnet
0‑L	289916	Vitamin B12-unresponsive methylmalonic acidemia type mut0	ORPHAnet
0‑L	293144	Familial clubfoot due to 5q31 microdeletion	ORPHAnet
0‑L	293150	Familial clubfoot due to PITX1 point mutation	ORPHAnet
0‑L	293165	Skin fragility-woolly hair-palmoplantar keratoderma syndrome	ORPHAnet
0‑L	293168	Infantile-onset ascending hereditary spastic paralysis	ORPHAnet
0‑L	293173	Acute generalized exanthematous pustulosis	ORPHAnet
0‑L	293181	Malignant migrating focal seizures of infancy	ORPHAnet
0‑L	293199	Pleomorphic rhabdomyosarcoma	ORPHAnet
0‑L	293202	Epithelioid sarcoma	ORPHAnet
0‑L	293208	Celiac artery compression syndrome	ORPHAnet
0‑L	293284	Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria	ORPHAnet
0‑L	293375	Grayson-Wilbrandt corneal dystrophy	ORPHAnet
0‑L	293381	Epithelial recurrent erosion dystrophy	ORPHAnet
0‑L	293462	Pre-Descemet corneal dystrophy	ORPHAnet
0‑L	293603	Congenital hereditary endothelial dystrophy type II	ORPHAnet
0‑L	293621	X-linked endothelial corneal dystrophy	ORPHAnet
0‑L	293633	PYCR1-related De Barsy syndrome	ORPHAnet
0‑L	293707	Blepharophimosis-intellectual disability syndrome, MKB type	ORPHAnet
0‑L	293725	Blepharophimosis-intellectual disability syndrome, Verloes type	ORPHAnet
0‑L	293807	Ketamine-induced biliary dilatation	ORPHAnet
0‑L	293812	Fixed drug eruption	ORPHAnet
0‑L	293822	MITF-related melanoma and renal cell carcinoma predisposition syndrome	ORPHAnet
0‑L	293825	Congenital dyserythropoietic anemia type IV	ORPHAnet
0‑L	293843	3MC syndrome	ORPHAnet
0‑L	293864	Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome	ORPHAnet
0‑L	293888	Familial isolated arrhythmogenic ventricular dysplasia, left dominant form	ORPHAnet
0‑L	293899	Familial isolated arrhythmogenic ventricular dysplasia, biventricular form	ORPHAnet
0‑L	293910	Familial isolated arrhythmogenic ventricular dysplasia, right dominant form	ORPHAnet
0‑L	293925	Lethal occipital encephalocele-skeletal dysplasia syndrome	ORPHAnet
0‑L	293936	EDICT syndrome	ORPHAnet
0‑L	293939	Distal Xq28 microduplication syndrome	ORPHAnet
0‑L	293948	1p21.3 microdeletion syndrome	ORPHAnet
0‑L	293955	Childhood encephalopathy due to thiamine pyrophosphokinase deficiency	ORPHAnet
0‑L	293958	Hypertelorism-preauricular sinus-punctual pits-deafness syndrome	ORPHAnet
0‑L	293964	Hypoinsulinemic hypoglycemia and body hemihypertrophy	ORPHAnet
0‑L	293967	Hypogonadotropic hypogonadism-severe microcephaly-sensorineural hearing loss-dysmorphism syndrome	ORPHAnet
0‑L	293978	Deficiency in anterior pituitary function-variable immunodeficiency syndrome	ORPHAnet
0‑L	293987	Rapid-onset childhood obesity-hypothalamic dysfunction-hypoventilation-autonomic dysregulation syndrome	ORPHAnet
0‑L	294016	Microcephaly-capillary malformation syndrome	ORPHAnet
0‑L	294023	Neonatal inflammatory skin and bowel disease	ORPHAnet
0‑L	294026	Syndactyly-nystagmus syndrome due to 2q31.1 microduplication	ORPHAnet
0‑L	294415	Renal-hepatic-pancreatic dysplasia	ORPHAnet
0‑L	294422	Chronic intestinal failure	ORPHAnet
0‑L	294967	Amelia of upper limb	ORPHAnet
0‑L	294969	Amelia of lower limb	ORPHAnet
0‑L	294971	Tetra-amelia	ORPHAnet
0‑L	294973	Humeral agenesis/hypoplasia	ORPHAnet
0‑L	294975	Congenital absence of upper arm and forearm with hand present	ORPHAnet
0‑L	294977	Congenital absence of thigh and lower leg with foot present	ORPHAnet
0‑L	294979	Congenital absence of both forearm and hand	ORPHAnet
0‑L	294981	Congenital absence of both lower leg and foot	ORPHAnet
0‑L	294983	Acheiria	ORPHAnet
0‑L	294986	Apodia	ORPHAnet
0‑L	294988	Congenital hypoplasia of thumb	ORPHAnet
0‑L	295000	Constriction rings syndrome	ORPHAnet
0‑L	295002	Hyperphalangy	ORPHAnet
0‑L	295004	Central polydactyly	ORPHAnet
0‑L	295012	Syndactyly type 6	ORPHAnet
0‑L	295014	Familial isolated clinodactyly of fingers	ORPHAnet
0‑L	295016	Camptodactyly of fingers	ORPHAnet
0‑L	295018	Congenital pseudoarthrosis of the tibia	ORPHAnet
0‑L	295020	Congenital pseudoarthrosis of the femur	ORPHAnet
0‑L	295022	Congenital pseudoarthrosis of the fibula	ORPHAnet
0‑L	295024	Congenital pseudoarthrosis of the radius	ORPHAnet
0‑L	295026	Congenital pseudoarthrosis of the ulna	ORPHAnet
0‑L	295028	Tibio-fibular synostosis	ORPHAnet
0‑L	295030	True congenital shoulder dislocation	ORPHAnet
0‑L	295032	Isolated congenital radial head dislocation	ORPHAnet
0‑L	295034	Congenital knee dislocation	ORPHAnet
0‑L	295036	Congenital patella dislocation	ORPHAnet
0‑L	295044	Macrodactyly of fingers	ORPHAnet
0‑L	295047	Macrodactyly of toes	ORPHAnet
0‑L	295049	Upper limb hypertrophy	ORPHAnet
0‑L	295051	Lower limb hypertrophy	ORPHAnet
0‑L	295187	Zygodactyly type 1	ORPHAnet
0‑L	295189	Zygodactyly type 2	ORPHAnet
0‑L	295191	Zygodactyly type 3	ORPHAnet
0‑L	295193	Zygodactyly type 4	ORPHAnet
0‑L	295195	Synpolydactyly type 1	ORPHAnet
0‑L	295197	Synpolydactyly type 2	ORPHAnet
0‑L	295199	Synpolydactyly type 3	ORPHAnet
0‑L	295201	Congenital vertical talus, unilateral	ORPHAnet
0‑L	295203	Congenital vertical talus, bilateral	ORPHAnet
0‑L	295213	Humero-ulnar synostosis, unilateral	ORPHAnet
0‑L	295215	Humero-ulnar synostosis, bilateral	ORPHAnet
0‑L	295217	Radio-ulnar synostosis, unilateral	ORPHAnet
0‑L	295219	Radio-ulnar synostosis, bilateral	ORPHAnet
0‑L	295225	Congenital elbow dislocation, unilateral	ORPHAnet
0‑L	295227	Congenital elbow dislocation, bilateral	ORPHAnet
0‑L	295229	Congenital genu recurvatum	ORPHAnet
0‑L	295232	Congenital genu flexum	ORPHAnet
0‑L	295239	Macrodactyly of fingers, unilateral	ORPHAnet
0‑L	295241	Macrodactyly of fingers, bilateral	ORPHAnet
0‑L	295243	Macrodactyly of toes, unilateral	ORPHAnet
0‑L	295245	Macrodactyly of toes, bilateral	ORPHAnet
0‑L	300179	Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency	ORPHAnet
0‑L	300284	Connective tissue disorder due to lysyl hydroxylase-3 deficiency	ORPHAnet
0‑L	300293	Transient infantile hypertriglyceridemia and hepatosteatosis	ORPHAnet
0‑L	300298	Severe congenital hypochromic anemia with ringed sideroblasts	ORPHAnet
0‑L	300305	11p15.4 microduplication syndrome	ORPHAnet
0‑L	300313	Congenital cataract-hearing loss-severe developmental delay syndrome	ORPHAnet
0‑L	300319	Charcot-Marie-Tooth disease type 2P	ORPHAnet
0‑L	300324	Persistent polyclonal B-cell lymphocytosis	ORPHAnet
0‑L	300333	Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome	ORPHAnet
0‑L	300345	Autosomal systemic lupus erythematosus	ORPHAnet
0‑L	300359	PLCG2-associated antibody deficiency and immune dysregulation	ORPHAnet
0‑L	300373	X-linked acrogigantism	ORPHAnet
0‑L	300382	Progeroid and marfanoid aspect-lipodystrophy syndrome	ORPHAnet
0‑L	300385	Pituitary carcinoma	ORPHAnet
0‑L	300493	Sagliker syndrome	ORPHAnet
0‑L	300496	Multiple congenital anomalies-hypotonia-seizures syndrome type 2	ORPHAnet
0‑L	300501	Painful orbital and systemic neurofibromas-marfanoid habitus syndrome	ORPHAnet
0‑L	300504	Onychocytic matricoma	ORPHAnet
0‑L	300512	Onychomatricoma	ORPHAnet
0‑L	300525	Pseudohypoaldosteronism type 2D	ORPHAnet
0‑L	300530	Pseudohypoaldosteronism type 2E	ORPHAnet
0‑L	300536	DDOST-CDG	ORPHAnet
0‑L	300547	Autosomal recessive infantile hypercalcemia	ORPHAnet
0‑L	300552	Follicular cholangitis and pancreatitis	ORPHAnet
0‑L	300557	Carcinoma of the ampulla of Vater	ORPHAnet
0‑L	300564	Combined pulmonary fibrosis-emphysema syndrome	ORPHAnet
0‑L	300570	Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation	ORPHAnet
0‑L	300573	Polymicrogyria due to TUBB2B mutation	ORPHAnet
0‑L	300576	Oligodontia-cancer predisposition syndrome	ORPHAnet
0‑L	300605	Juvenile amyotrophic lateral sclerosis	ORPHAnet
0‑L	300751	Familial dilated cardiomyopathy with conduction defect due to LMNA mutation	ORPHAnet
0‑L	300849	Diffuse large B-cell lymphoma of the central nervous system	ORPHAnet
0‑L	300857	T-cell/histiocyte rich large B cell lymphoma	ORPHAnet
0‑L	300865	Primary cutaneous anaplastic large cell lymphoma	ORPHAnet
0‑L	300869	Splenic diffuse red pulp small B-cell lymphoma	ORPHAnet
0‑L	300878	Hairy cell leukemia variant	ORPHAnet
0‑L	300888	Diffuse large B-cell lymphoma with chronic inflammation	ORPHAnet
0‑L	300895	ALK-positive anaplastic large cell lymphoma	ORPHAnet
0‑L	300903	ALK-negative anaplastic large cell lymphoma	ORPHAnet
0‑L	306431	Adult-onset immunodeficiency with anti-interferon-gamma autoantibodies	ORPHAnet
0‑L	306504	Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome	ORPHAnet
0‑L	306511	Autosomal recessive spastic paraplegia type 48	ORPHAnet
0‑L	306516	Primary hypomagnesemia with hypercalciuria and nephrocalcinosis	ORPHAnet
0‑L	306527	Isolated hereditary congenital facial paralysis	ORPHAnet
0‑L	306530	Congenital hereditary facial paralysis-variable hearing loss syndrome	ORPHAnet
0‑L	306542	Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome	ORPHAnet
0‑L	306547	Porencephaly-microcephaly-bilateral congenital cataract syndrome	ORPHAnet
0‑L	306550	FADD-related immunodeficiency	ORPHAnet
0‑L	306553	Myospherulosis	ORPHAnet
0‑L	306558	Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome	ORPHAnet
0‑L	306577	Sodium channelopathy-related small fiber neuropathy	ORPHAnet
0‑L	306617	X-linked complicated spastic paraplegia type 1	ORPHAnet
0‑L	306644	Complication after organ transplantation	ORPHAnet
0‑L	306658	Familial normophosphatemic tumoral calcinosis	ORPHAnet
0‑L	306661	Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome	ORPHAnet
0‑L	306669	Hemiparkinsonism-hemiatrophy syndrome	ORPHAnet
0‑L	306674	Kufor-Rakeb syndrome	ORPHAnet
0‑L	306682	Manganese poisoning	ORPHAnet
0‑L	306686	Delayed encephalopathy due to carbon monoxide poisoning	ORPHAnet
0‑L	306692	Cyanide-induced parkinsonism-dystonia	ORPHAnet
0‑L	306731	Sydenham chorea	ORPHAnet
0‑L	306734	Primary dystonia, DYT21 type	ORPHAnet
0‑L	306741	Hemidystonia-hemiatrophy syndrome	ORPHAnet
0‑L	306776	Sporadic hyperekplexia	ORPHAnet
0‑L	307766	Curly hair-acral keratoderma-caries syndrome	ORPHAnet
0‑L	307936	Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome	ORPHAnet
0‑L	308013	Focal acral hyperkeratosis	ORPHAnet
0‑L	308380	Methylcobalamin deficiency type cblDv1	ORPHAnet
0‑L	308386	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A	ORPHAnet
0‑L	308393	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B	ORPHAnet
0‑L	308400	Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C	ORPHAnet
0‑L	308410	Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency	ORPHAnet
0‑L	308425	Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency	ORPHAnet
0‑L	308442	Vitamin B12-responsive methylmalonic acidemia, type cblDv2	ORPHAnet
0‑L	308473	Erythrocyte galactose epimerase deficiency	ORPHAnet
0‑L	308487	Generalized galactose epimerase deficiency	ORPHAnet
0‑L	308552	Glycogen storage disease due to acid maltase deficiency, infantile onset	ORPHAnet
0‑L	308621	Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form	ORPHAnet
0‑L	308638	Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form	ORPHAnet
0‑L	308655	Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form	ORPHAnet
0‑L	308670	Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form	ORPHAnet
0‑L	308684	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form	ORPHAnet
0‑L	308698	Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form	ORPHAnet
0‑L	308712	Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form	ORPHAnet
0‑L	309015	Familial lipoprotein lipase deficiency	ORPHAnet
0‑L	309020	Familial apolipoprotein C-II deficiency	ORPHAnet
0‑L	309025	Mevalonate kinase deficiency	ORPHAnet
0‑L	309031	Pancreatic triacylglycerol lipase deficiency	ORPHAnet
0‑L	309108	Pancreatic colipase deficiency	ORPHAnet
0‑L	309111	Combined pancreatic lipase-colipase deficiency	ORPHAnet
0‑L	309147	Hyper-beta-alaninemia	ORPHAnet
0‑L	309155	Sandhoff disease, infantile form	ORPHAnet
0‑L	309162	Sandhoff disease, juvenile form	ORPHAnet
0‑L	309169	Sandhoff disease, adult form	ORPHAnet
0‑L	309178	Tay-Sachs disease, B variant, infantile form	ORPHAnet
0‑L	309185	Tay-Sachs disease, B variant, juvenile form	ORPHAnet
0‑L	309192	Tay-Sachs disease, B variant, adult form	ORPHAnet
0‑L	309239	Tay-Sachs disease, B1 variant	ORPHAnet
0‑L	309246	GM2 gangliosidosis, AB variant	ORPHAnet
0‑L	309252	Atypical Gaucher disease due to saposin C deficiency	ORPHAnet
0‑L	309256	Metachromatic leukodystrophy, late infantile form	ORPHAnet
0‑L	309263	Metachromatic leukodystrophy, juvenile form	ORPHAnet
0‑L	309271	Metachromatic leukodystrophy, adult form	ORPHAnet
0‑L	309282	Alpha-mannosidosis, infantile form	ORPHAnet
0‑L	309288	Alpha-mannosidosis, adult form	ORPHAnet
0‑L	309297	Mucopolysaccharidosis type 4A	ORPHAnet
0‑L	309310	Mucopolysaccharidosis type 4B	ORPHAnet
0‑L	309324	Free sialic acid storage disease, infantile form	ORPHAnet
0‑L	309331	Intermediate severe Salla disease	ORPHAnet
0‑L	309334	Salla disease	ORPHAnet
0‑L	309789	Rhizomelic chondrodysplasia punctata type 1	ORPHAnet
0‑L	309796	Rhizomelic chondrodysplasia punctata type 2	ORPHAnet
0‑L	309803	Rhizomelic chondrodysplasia punctata type 3	ORPHAnet
0‑L	309854	Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome	ORPHAnet
0‑L	313772	Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome	ORPHAnet
0‑L	313781	20p13 microdeletion syndrome	ORPHAnet
0‑L	313795	Jawad syndrome	ORPHAnet
0‑L	313800	Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome	ORPHAnet
0‑L	313808	Hereditary diffuse leukoencephalopathy with axonal spheroids and pigmented glia	ORPHAnet
0‑L	313838	Coats plus syndrome	ORPHAnet
0‑L	313846	Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome	ORPHAnet
0‑L	313850	Infantile cerebellar-retinal degeneration	ORPHAnet
0‑L	313855	FGFR2-related bent bone dysplasia	ORPHAnet
0‑L	313884	12p12.1 microdeletion syndrome	ORPHAnet
0‑L	313892	Developmental and speech delay due to SOX5 deficiency	ORPHAnet
0‑L	313906	Congenital pancreatic cyst	ORPHAnet
0‑L	313920	Epstein-Barr virus-associated gastric carcinoma	ORPHAnet
0‑L	313936	PENS syndrome	ORPHAnet
0‑L	313947	2q23.1 microduplication syndrome	ORPHAnet
0‑L	314002	Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome	ORPHAnet
0‑L	314017	Idiopathic linear interstitial keratitis	ORPHAnet
0‑L	314022	Gastric adenocarcinoma and proximal polyposis of the stomach	ORPHAnet
0‑L	314029	High bone mass osteogenesis imperfecta	ORPHAnet
0‑L	314034	7p22.1 microduplication syndrome	ORPHAnet
0‑L	314041	Marfanoid habitus-inguinal hernia-advanced bone age syndrome	ORPHAnet
0‑L	314051	Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome	ORPHAnet
0‑L	314373	Chronic infantile diarrhea due to guanylate cyclase 2C overactivity	ORPHAnet
0‑L	314376	Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency	ORPHAnet
0‑L	314381	Hereditary sensory and autonomic neuropathy type 6	ORPHAnet
0‑L	314389	Xq12-q13.3 duplication syndrome	ORPHAnet
0‑L	314394	Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome	ORPHAnet
0‑L	314399	Autosomal dominant aplasia and myelodysplasia	ORPHAnet
0‑L	314404	Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome	ORPHAnet
0‑L	314419	Ameloblastoma	ORPHAnet
0‑L	314422	Ameloblastic carcinoma	ORPHAnet
0‑L	314432	Spigelian hernia-cryptorchidism syndrome	ORPHAnet
0‑L	314451	Meigs syndrome	ORPHAnet
0‑L	314459	Pseudo-Meigs syndrome	ORPHAnet
0‑L	314466	Atypical Meigs syndrome	ORPHAnet
0‑L	314473	Ovarian fibroma	ORPHAnet
0‑L	314478	Ovarian fibrothecoma	ORPHAnet
0‑L	314485	Young adult-onset distal hereditary motor neuropathy	ORPHAnet
0‑L	314555	Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome	ORPHAnet
0‑L	314566	Primary progressive apraxia of speech	ORPHAnet
0‑L	314572	Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome	ORPHAnet
0‑L	314575	Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome	ORPHAnet
0‑L	314585	15q overgrowth syndrome	ORPHAnet
0‑L	314588	Distal tetrasomy 15q	ORPHAnet
0‑L	314597	Chudley-McCullough syndrome	ORPHAnet
0‑L	314603	Autosomal recessive spastic ataxia with leukoencephalopathy	ORPHAnet
0‑L	314613	Growing teratoma syndrome	ORPHAnet
0‑L	314621	Duplication of the pituitary gland	ORPHAnet
0‑L	314629	CLN11 disease	ORPHAnet
0‑L	314632	ATP13A2-related juvenile neuronal ceroid lipofuscinosis	ORPHAnet
0‑L	314637	Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency	ORPHAnet
0‑L	314647	Non-progressive cerebellar ataxia with intellectual disability	ORPHAnet
0‑L	314652	Variant ABeta2M amyloidosis	ORPHAnet
0‑L	314655	Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion	ORPHAnet
0‑L	314662	Segmental progressive overgrowth syndrome with fibroadipose hyperplasia	ORPHAnet
0‑L	314667	TMEM165-CDG	ORPHAnet
0‑L	314679	Cerebrofacioarticular syndrome	ORPHAnet
0‑L	314684	Primary bone lymphoma	ORPHAnet
0‑L	314689	Combined immunodeficiency due to STK4 deficiency	ORPHAnet
0‑L	314697	Acquired porencephaly	ORPHAnet
0‑L	314701	Primary systemic amyloidosis	ORPHAnet
0‑L	314709	Primary localized amyloidosis	ORPHAnet
0‑L	314718	Lethal arteriopathy syndrome due to fibulin-4 deficiency	ORPHAnet
0‑L	314721	Atypical dentin dysplasia due to SMOC2 deficiency	ORPHAnet
0‑L	314769	Somatomammotropinoma	ORPHAnet
0‑L	314777	Familial isolated pituitary adenoma	ORPHAnet
0‑L	314786	Silent pituitary adenoma	ORPHAnet
0‑L	314790	Null pituitary adenoma	ORPHAnet
0‑L	314795	SHOX-related short stature	ORPHAnet
0‑L	314802	Short stature due to partial GHR deficiency	ORPHAnet
0‑L	314811	Short stature due to GHSR deficiency	ORPHAnet
0‑L	314889	Autosomal dominant proximal renal tubular acidosis	ORPHAnet
0‑L	314911	Severe Canavan disease	ORPHAnet
0‑L	314918	Mild Canavan disease	ORPHAnet
0‑L	314950	Primary hypereosinophilic syndrome	ORPHAnet
0‑L	314962	Secondary hypereosinophilic syndrome	ORPHAnet
0‑L	314970	Lymphocytic hypereosinophilic syndrome	ORPHAnet
0‑L	314978	X-linked non progressive cerebellar ataxia	ORPHAnet
0‑L	314993	Cataract-congenital heart disease-neural tube defect syndrome	ORPHAnet
0‑L	315306	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form	ORPHAnet
0‑L	315311	Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form	ORPHAnet
0‑L	317425	Severe combined immunodeficiency due to DNA-PKcs deficiency	ORPHAnet
0‑L	317428	Combined immunodeficiency due to ORAI1 deficiency	ORPHAnet
0‑L	317430	Combined immunodeficiency due to STIM1 deficiency	ORPHAnet
0‑L	317473	Pancytopenia due to IKZF1 mutations	ORPHAnet
0‑L	317476	X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia	ORPHAnet
0‑L	319160	Congenital myopathy with internal nuclei and atypical cores	ORPHAnet
0‑L	319171	Distal 17p13.1 microdeletion syndrome	ORPHAnet
0‑L	319182	Wiedemann-Steiner syndrome	ORPHAnet
0‑L	319189	Familial cortical myoclonus	ORPHAnet
0‑L	319192	Diencephalic-mesencephalic junction dysplasia	ORPHAnet
0‑L	319195	Chondroectodermal dysplasia with night blindness	ORPHAnet
0‑L	319199	Autosomal recessive spastic paraplegia type 53	ORPHAnet
0‑L	319205	Bilateral massive adrenal hemorrhage	ORPHAnet
0‑L	319213	Lujo hemorrhagic fever	ORPHAnet
0‑L	319218	Ebola hemorrhagic fever	ORPHAnet
0‑L	319223	Argentine hemorrhagic fever	ORPHAnet
0‑L	319229	Bolivian hemorrhagic fever	ORPHAnet
0‑L	319234	Venezuelan hemorrhagic fever	ORPHAnet
0‑L	319239	Brazilian hemorrhagic fever	ORPHAnet
0‑L	319244	Chapare hemorrhagic fever	ORPHAnet
0‑L	319247	Hantavirus pulmonary syndrome	ORPHAnet
0‑L	319251	Rift valley fever	ORPHAnet
0‑L	319254	Kyasanur forest disease	ORPHAnet
0‑L	319266	Omsk hemorrhagic fever	ORPHAnet
0‑L	319276	Clear cell renal carcinoma	ORPHAnet
0‑L	319287	Multilocular cystic renal neoplasm of low malignant potential	ORPHAnet
0‑L	319298	Papillary renal cell carcinoma	ORPHAnet
0‑L	319303	Chromophobe renal cell carcinoma	ORPHAnet
0‑L	319308	MiT family translocation renal cell carcinoma	ORPHAnet
0‑L	319319	Renal medullary carcinoma	ORPHAnet
0‑L	319322	Mucinous tubular and spindle cell renal carcinoma	ORPHAnet
0‑L	319325	Tubulocystic renal cell carcinoma	ORPHAnet
0‑L	319332	Autosomal recessive myogenic arthrogryposis multiplex congenita	ORPHAnet
0‑L	319340	Carney complex-trismus-pseudocamptodactyly syndrome	ORPHAnet
0‑L	319462	Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations	ORPHAnet
0‑L	319465	Inherited acute myeloid leukemia	ORPHAnet
0‑L	319480	Acute myeloid leukemia with CEBPA somatic mutations	ORPHAnet
0‑L	319487	Familial papillary or follicular thyroid carcinoma	ORPHAnet
0‑L	319504	Combined oxidative phosphorylation defect type 8	ORPHAnet
0‑L	319509	Combined oxidative phosphorylation defect type 9	ORPHAnet
0‑L	319514	Combined oxidative phosphorylation defect type 13	ORPHAnet
0‑L	319519	Combined oxidative phosphorylation defect type 14	ORPHAnet
0‑L	319524	Combined oxidative phosphorylation defect type 15	ORPHAnet
0‑L	319547	Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency	ORPHAnet
0‑L	319552	Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency	ORPHAnet
0‑L	319558	Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency	ORPHAnet
0‑L	319563	Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency	ORPHAnet
0‑L	319569	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	ORPHAnet
0‑L	319574	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	ORPHAnet
0‑L	319581	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency	ORPHAnet
0‑L	319589	Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency	ORPHAnet
0‑L	319595	Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency	ORPHAnet
0‑L	319600	Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency	ORPHAnet
0‑L	319605	X-linked mendelian susceptibility to mycobacterial diseases	ORPHAnet
0‑L	319612	X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency	ORPHAnet
0‑L	319623	X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency	ORPHAnet
0‑L	319635	Amyloidosis cutis dyschromia	ORPHAnet
0‑L	319640	Retinal macular dystrophy type 2	ORPHAnet
0‑L	319646	PGM1-CDG	ORPHAnet
0‑L	319651	Constitutional megaloblastic anemia with severe neurologic disease	ORPHAnet
0‑L	319667	Primary lymphoma of the conjunctiva	ORPHAnet
0‑L	319671	Alazami syndrome	ORPHAnet
0‑L	319675	Microcephalic primordial dwarfism, Dauber type	ORPHAnet
0‑L	319678	Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome	ORPHAnet
0‑L	320355	Autosomal dominant spastic paraplegia type 41	ORPHAnet
0‑L	320360	MT-ATP6-related mitochondrial spastic paraplegia	ORPHAnet
0‑L	320365	Autosomal dominant spastic paraplegia type 36	ORPHAnet
0‑L	320370	Autosomal recessive spastic paraplegia type 43	ORPHAnet
0‑L	320375	Autosomal recessive spastic paraplegia type 55	ORPHAnet
0‑L	320380	Autosomal recessive spastic paraplegia type 54	ORPHAnet
0‑L	320385	Hereditary sensory and autonomic neuropathy due to TECPR2 mutation	ORPHAnet
0‑L	320391	Autosomal recessive spastic paraplegia type 46	ORPHAnet
0‑L	320396	Autosomal recessive spastic paraplegia type 45	ORPHAnet
0‑L	320401	Autosomal recessive spastic paraplegia type 44	ORPHAnet
0‑L	320406	Spastic paraplegia-optic atrophy-neuropathy syndrome	ORPHAnet
0‑L	320411	Autosomal recessive spastic paraplegia type 56	ORPHAnet
0‑L	324262	Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency	ORPHAnet
0‑L	324290	Early-onset Lafora body disease	ORPHAnet
0‑L	324294	T-cell immunodeficiency with epidermodysplasia verruciformis	ORPHAnet
0‑L	324299	Multiple paragangliomas associated with polycythemia	ORPHAnet
0‑L	324307	Severe lateral tibial bowing with short stature	ORPHAnet
0‑L	324313	9p13 microdeletion syndrome	ORPHAnet
0‑L	324321	Sinoatrial node dysfunction and deafness	ORPHAnet
0‑L	324353	Congenital achiasma	ORPHAnet
0‑L	324364	Mixed sclerosing bone dystrophy with extra-skeletal manifestations	ORPHAnet
0‑L	324381	Hereditary inclusion body myopathy type 4	ORPHAnet
0‑L	324410	X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome	ORPHAnet
0‑L	324416	Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome	ORPHAnet
0‑L	324422	ALG13-CDG	ORPHAnet
0‑L	324442	Autosomal recessive axonal neuropathy with neuromyotonia	ORPHAnet
0‑L	324525	Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation	ORPHAnet
0‑L	324530	Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation	ORPHAnet
0‑L	324535	Combined oxidative phosphorylation defect type 11	ORPHAnet
0‑L	324540	Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome	ORPHAnet
0‑L	324561	Hypopigmentation-punctate palmoplantar keratoderma syndrome	ORPHAnet
0‑L	324569	Pontocerebellar hypoplasia type 8	ORPHAnet
0‑L	324575	Hyperinsulinism due to HNF1A deficiency	ORPHAnet
0‑L	324581	Benign Samaritan congenital myopathy	ORPHAnet
0‑L	324585	Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain	ORPHAnet
0‑L	324588	Familial dyskinesia and facial myokymia	ORPHAnet
0‑L	324601	X-linked cleft palate and ankyloglossia	ORPHAnet
0‑L	324604	Classic multiminicore myopathy	ORPHAnet
0‑L	324611	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation	ORPHAnet
0‑L	324625	Chikungunya	ORPHAnet
0‑L	324632	Hendra virus infection	ORPHAnet
0‑L	324636	Autoerythrocyte sensitization syndrome	ORPHAnet
0‑L	324648	Invasive non-typhoidal salmonellosis	ORPHAnet
0‑L	324703	ABetaL34V amyloidosis	ORPHAnet
0‑L	324708	ABeta amyloidosis, Iowa type	ORPHAnet
0‑L	324713	ABeta amyloidosis, Italian type	ORPHAnet
0‑L	324718	ABetaA21G amyloidosis	ORPHAnet
0‑L	324723	ABeta amyloidosis, Arctic type	ORPHAnet
0‑L	324737	SRD5A3-CDG	ORPHAnet
0‑L	324964	Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis	ORPHAnet
0‑L	324972	MAGIC syndrome	ORPHAnet
0‑L	324977	Proteasome-associated autoinflammatory syndrome	ORPHAnet
0‑L	325124	Testicular agenesis	ORPHAnet
0‑L	325345	46,XY ovotesticular disorder of sex development	ORPHAnet
0‑L	325448	Leydig cell hypoplasia due to LHB deficiency	ORPHAnet
0‑L	325524	Classic congenital lipoid adrenal hyperplasia due to STAR deficency	ORPHAnet
0‑L	325529	Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency	ORPHAnet
0‑L	329173	Autoinflammatory syndrome with pyogenic bacterial infection and amylopectinosis	ORPHAnet
0‑L	329178	Congenital muscular dystrophy with intellectual disability and severe epilepsy	ORPHAnet
0‑L	329191	Tall stature-long halluces-multiple extra-epiphyses syndrome	ORPHAnet
0‑L	329195	Developmental delay with autism spectrum disorder and gait instability	ORPHAnet
0‑L	329211	Autosomal dominant neovascular inflammatory vitreoretinopathy	ORPHAnet
0‑L	329217	Cerebral sinovenous thrombosis	ORPHAnet
0‑L	329224	Intellectual disability-craniofacial dysmorphism-cryptorchidism syndrome	ORPHAnet
0‑L	329228	Microcephalic primordial dwarfism due to ZNF335 deficiency	ORPHAnet
0‑L	329235	X-linked central congenital hypothyroidism with late-onset testicular enlargement	ORPHAnet
0‑L	329242	Congenital chronic diarrhea with protein-losing enteropathy	ORPHAnet
0‑L	329249	Severe early-onset obesity-insulin resistance syndrome due to SH2B1 deficiency	ORPHAnet
0‑L	329258	Autosomal dominant Charcot-Marie-Tooth disease type 2Q	ORPHAnet
0‑L	329284	Beta-propeller protein-associated neurodegeneration	ORPHAnet
0‑L	329308	Fatty acid hydroxylase-associated neurodegeneration	ORPHAnet
0‑L	329314	Adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency	ORPHAnet
0‑L	329319	Thrombocythemia with distal limb defects	ORPHAnet
0‑L	329324	Inverse Klippel-Trénaunay syndrome	ORPHAnet
0‑L	329329	Autosomal recessive frontotemporal pachygyria	ORPHAnet
0‑L	329332	Microcephaly-cerebellar hypoplasia-cardiac conduction defect syndrome	ORPHAnet
0‑L	329336	Adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy	ORPHAnet
0‑L	329457	Distal arthrogryposis type 5D	ORPHAnet
0‑L	329466	Autosomal dominant focal dystonia, DYT25 type	ORPHAnet
0‑L	329469	Acute megakaryoblastic leukemia without Down syndrome	ORPHAnet
0‑L	329475	Spastic paraplegia-Paget disease of bone syndrome	ORPHAnet
0‑L	329478	Adult-onset distal myopathy due to VCP mutation	ORPHAnet
0‑L	329481	Lipoprotein glomerulopathy	ORPHAnet
0‑L	329802	5p13 microduplication syndrome	ORPHAnet
0‑L	329813	Mosaic genome-wide paternal uniparental disomy	ORPHAnet
0‑L	329874	Idiopathic giant cell myocarditis	ORPHAnet
0‑L	329883	Non-hypoproteinemic hypertrophic gastropathy	ORPHAnet
0‑L	329894	Juvenile overlap myositis	ORPHAnet
0‑L	329903	Immunoglobulin-mediated membranoproliferative glomerulonephritis	ORPHAnet
0‑L	329918	C3 glomerulopathy	ORPHAnet
0‑L	329931	C3 glomerulonephritis	ORPHAnet
0‑L	329942	Transient neonatal multiple acyl-CoA dehydrogenase deficiency	ORPHAnet
0‑L	329967	Intermittent hydrarthrosis	ORPHAnet
0‑L	329971	Generalized juvenile polyposis/juvenile polyposis coli	ORPHAnet
0‑L	329977	Classic neuroendocrine tumor of appendix	ORPHAnet
0‑L	329984	Goblet cell carcinoma	ORPHAnet
0‑L	330001	Wild type ATTR amyloidosis	ORPHAnet
0‑L	330012	High altitude pulmonary edema	ORPHAnet
0‑L	330015	Lead poisoning	ORPHAnet
0‑L	330021	Mercury poisoning	ORPHAnet
0‑L	330029	Hypotrichosis-deafness syndrome	ORPHAnet
0‑L	330032	Hemoglobin Lepore-beta-thalassemia syndrome	ORPHAnet
0‑L	330041	Hemoglobin M disease	ORPHAnet
0‑L	330050	DNM1L-related encephalopathy due to mitochondrial and peroxisomal fission defect	ORPHAnet
0‑L	330054	Congenital cataract-progressive muscular hypotonia-hearing loss-developmental delay syndrome	ORPHAnet
0‑L	330058	Hydroa vacciniforme	ORPHAnet
0‑L	330061	Actinic prurigo	ORPHAnet
0‑L	330064	Chronic actinic dermatitis	ORPHAnet
0‑L	331176	Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency	ORPHAnet
0‑L	331187	Immunodeficiency due to MASP-2 deficiency	ORPHAnet
0‑L	331190	Immunodeficiency due to ficolin3 deficiency	ORPHAnet
0‑L	331206	Severe combined immunodeficiency due to complete RAG1/2 deficiency	ORPHAnet
0‑L	331226	Susceptibility to infection due to TYK2 deficiency	ORPHAnet
0‑L	331235	Selective IgM deficiency	ORPHAnet
0‑L	352328	MEGDEL syndrome	ORPHAnet
0‑L	352333	Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome	ORPHAnet
0‑L	352403	Spectrin-associated autosomal recessive cerebellar ataxia	ORPHAnet
0‑L	352447	Progressive external ophthalmoplegia-myopathy-emaciation syndrome	ORPHAnet
0‑L	352470	DNA2-related mitochondrial DNA deletion syndrome	ORPHAnet
0‑L	352479	ISPD-related limb-girdle muscular dystrophy R20	ORPHAnet
0‑L	352490	Autism spectrum disorder due to AUTS2 deficiency	ORPHAnet
0‑L	352530	Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome	ORPHAnet
0‑L	352540	Oncogenic osteomalacia	ORPHAnet
0‑L	352563	Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency	ORPHAnet
0‑L	352577	Bainbridge-Ropers syndrome	ORPHAnet
0‑L	352582	Familial infantile myoclonic epilepsy	ORPHAnet
0‑L	352587	Focal epilepsy-intellectual disability-cerebro-cerebellar malformation	ORPHAnet
0‑L	352596	Progressive myoclonic epilepsy with dystonia	ORPHAnet
0‑L	352629	16q24.1 microdeletion syndrome	ORPHAnet
0‑L	352636	Phalangeal microgeodic syndrome	ORPHAnet
0‑L	352641	Autosomal recessive cerebellar ataxia with late-onset spasticity	ORPHAnet
0‑L	352649	Brain dopamine-serotonin vesicular transport disease	ORPHAnet
0‑L	352654	Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome	ORPHAnet
0‑L	352657	Hereditary benign intraepithelial dyskeratosis	ORPHAnet
0‑L	352662	Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome	ORPHAnet
0‑L	352665	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion	ORPHAnet
0‑L	352670	Autosomal dominant intermediate Charcot-Marie-Tooth disease type F	ORPHAnet
0‑L	352675	X-linked Charcot-Marie-Tooth disease type 6	ORPHAnet
0‑L	352682	Cobblestone lissencephaly without muscular or ocular involvement	ORPHAnet
0‑L	352709	CLN13 disease	ORPHAnet
0‑L	352712	Facial dysmorphism-immunodeficiency-livedo-short stature syndrome	ORPHAnet
0‑L	352718	Progressive retinal dystrophy due to retinol transport defect	ORPHAnet
0‑L	352723	Attenuated Chédiak-Higashi syndrome	ORPHAnet
0‑L	352731	Oculocutaneous albinism type 1	ORPHAnet
0‑L	352734	Minimal pigment oculocutaneous albinism type 1	ORPHAnet
0‑L	352737	Temperature-sensitive oculocutaneous albinism type 1	ORPHAnet
0‑L	352745	Oculocutaneous albinism type 7	ORPHAnet
0‑L	352763	Scleredema	ORPHAnet
0‑L	353217	Epileptic encephalopathy with global cerebral demyelination	ORPHAnet
0‑L	353220	Familial primary localized cutaneous amyloidosis	ORPHAnet
0‑L	353253	Burning mouth syndrome	ORPHAnet
0‑L	353277	Rubinstein-Taybi syndrome due to CREBBP mutations	ORPHAnet
0‑L	353281	Rubinstein-Taybi syndrome due to 16p13.3 microdeletion	ORPHAnet
0‑L	353284	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	ORPHAnet
0‑L	353298	Roifman syndrome	ORPHAnet
0‑L	353308	Pyruvate carboxylase deficiency, infantile type	ORPHAnet
0‑L	353314	Pyruvate carboxylase deficiency, severe neonatal type	ORPHAnet
0‑L	353320	Pyruvate carboxylase deficiency, benign type	ORPHAnet
0‑L	353327	Congenital myasthenic syndromes with glycosylation defect	ORPHAnet
0‑L	353334	Congenital retinal arteriovenous communication	ORPHAnet
0‑L	353344	Idiopathic macular telangiectasia type 1	ORPHAnet
0‑L	353351	Idiopathic macular telangiectasia type 3	ORPHAnet
0‑L	353356	Vasoproliferative tumor of the retina	ORPHAnet
0‑L	356947	3q26q27 microdeletion syndrome	ORPHAnet
0‑L	356961	SLC35A2-CDG	ORPHAnet
0‑L	356978	D,L-2-hydroxyglutaric aciduria	ORPHAnet
0‑L	356996	ANK3-related intellectual disability-sleep disturbance syndrome	ORPHAnet
0‑L	357001	19p13.13 microdeletion syndrome	ORPHAnet
0‑L	357008	Hemolytic uremic syndrome with DGKE deficiency	ORPHAnet
0‑L	357027	Hereditary retinoblastoma	ORPHAnet
0‑L	357034	Non-hereditary retinoblastoma	ORPHAnet
0‑L	357043	Amyotrophic lateral sclerosis type 4	ORPHAnet
0‑L	357058	Autosomal recessive cutis laxa type 2A	ORPHAnet
0‑L	357064	Autosomal recessive cutis laxa type 2B	ORPHAnet
0‑L	357074	Autosomal recessive cutis laxa type 2, classic type	ORPHAnet
0‑L	357107	Arterial thoracic outlet syndrome	ORPHAnet
0‑L	357131	Venous thoracic outlet syndrome	ORPHAnet
0‑L	357154	Oral submucous fibrosis	ORPHAnet
0‑L	357158	Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome	ORPHAnet
0‑L	357175	Short ulna-dysmorphism-hypotonia-intellectual disability syndrome	ORPHAnet
0‑L	357220	Primary essential cutis verticis gyrata	ORPHAnet
0‑L	357225	Primary non-essential cutis verticis gyrata	ORPHAnet
0‑L	357237	Severe combined immunodeficiency due to CARD11 deficiency	ORPHAnet
0‑L	357329	Combined immunodeficiency due to IL21R deficiency	ORPHAnet
0‑L	357332	Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome	ORPHAnet
0‑L	363396	High myopia-sensorineural deafness syndrome	ORPHAnet
0‑L	363400	Severe neurodegenerative syndrome with lipodystrophy	ORPHAnet
0‑L	363409	Fetal akinesia-cerebral and retinal hemorrhage syndrome	ORPHAnet
0‑L	363412	Hypomyelination with brain stem and spinal cord involvement and leg spasticity	ORPHAnet
0‑L	363417	Temtamy preaxial brachydactyly syndrome	ORPHAnet
0‑L	363424	Multiple mitochondrial dysfunctions syndrome type 3	ORPHAnet
0‑L	363429	Autosomal recessive cerebellar ataxia-pyramidal signs-nystagmus-oculomotor apraxia syndrome	ORPHAnet
0‑L	363432	Autosomal recessive congenital cerebellar ataxia due to GRID2 deficiency	ORPHAnet
0‑L	363444	THOC6-related developmental delay-microcephaly-facial dysmorphism syndrome	ORPHAnet
0‑L	363447	Autosomal dominant childhood-onset proximal spinal muscular atrophy	ORPHAnet
0‑L	363454	BICD2-related autosomal dominant childhood-onset proximal spinal muscular atrophy	ORPHAnet
0‑L	363478	Paratesticular adenocarcinoma	ORPHAnet
0‑L	363483	Testicular teratoma	ORPHAnet
0‑L	363489	Sex cord-stromal tumor of testis	ORPHAnet
0‑L	363494	Non-seminomatous germ cell tumor of testis	ORPHAnet
0‑L	363523	Hypohidrosis-enamel hypoplasia-palmoplantar keratoderma-intellectual disability syndrome	ORPHAnet
0‑L	363528	Intellectual disability-strabismus syndrome	ORPHAnet
0‑L	363534	Mitochondrial DNA depletion syndrome, hepatocerebrorenal form	ORPHAnet
0‑L	363540	Leukoencephalopathy with mild cerebellar ataxia and white matter edema	ORPHAnet
0‑L	363549	Acute encephalopathy with biphasic seizures and late reduced diffusion	ORPHAnet
0‑L	363558	New-onset refractory status epilepticus	ORPHAnet
0‑L	363611	CTCF-related neurodevelopmental disorder	ORPHAnet
0‑L	363618	LMNA-related cardiocutaneous progeria syndrome	ORPHAnet
0‑L	363623	GMPPB-related limb-girdle muscular dystrophy R19	ORPHAnet
0‑L	363649	Mandibular hypoplasia-deafness-progeroid features-lipodystrophy syndrome	ORPHAnet
0‑L	363654	X-linked parkinsonism-spasticity syndrome	ORPHAnet
0‑L	363659	20q11.2 microduplication syndrome	ORPHAnet
0‑L	363665	Acroosteolysis-keloid-like lesions-premature aging syndrome	ORPHAnet
0‑L	363677	Childhood-onset autosomal recessive myopathy with external ophthalmoplegia	ORPHAnet
0‑L	363680	2p13.2 microdeletion syndrome	ORPHAnet
0‑L	363686	Severe intellectual disability-poor language-strabismus-grimacing face-long fingers syndrome	ORPHAnet
0‑L	363694	Hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome	ORPHAnet
0‑L	363700	Neurofibromatosis type 1 due to NF1 mutation or intragenic deletion	ORPHAnet
0‑L	363705	Craniofaciofrontodigital syndrome	ORPHAnet
0‑L	363710	Spinocerebellar ataxia type 37	ORPHAnet
0‑L	363717	Alexander disease type I	ORPHAnet
0‑L	363722	Alexander disease type II	ORPHAnet
0‑L	363727	X-linked dyserythropoietic anemia with abnormal platelets and neutropenia	ORPHAnet
0‑L	363741	Colobomatous microphthalmia-obesity-hypogenitalism-intellectual disability syndrome	ORPHAnet
0‑L	363746	Balint syndrome	ORPHAnet
0‑L	363958	17q21.31 microdeletion syndrome	ORPHAnet
0‑L	363965	Koolen-De Vries syndrome due to a point mutation	ORPHAnet
0‑L	363969	Autosomal recessive cerebral atrophy	ORPHAnet
0‑L	363972	Noonan syndrome-like disorder with juvenile myelomonocytic leukemia	ORPHAnet
0‑L	363976	Giant cell tumor of bone	ORPHAnet
0‑L	363981	Charcot-Marie-Tooth disease type 4B3	ORPHAnet
0‑L	363989	Familial benign flecked retina	ORPHAnet
0‑L	363992	Ichthyosis-short stature-brachydactyly-microspherophakia syndrome	ORPHAnet
0‑L	363999	Non-immune hydrops fetalis	ORPHAnet
0‑L	364013	Immune hydrops fetalis	ORPHAnet
0‑L	364028	X-linked intellectual disability due to GRIA3 mutations	ORPHAnet
0‑L	364033	Systemic Epstein-Barr virus-positive T-cell lymphoproliferative disease of childhood	ORPHAnet
0‑L	364039	Hydroa vacciniforme-like lymphoma	ORPHAnet
0‑L	364043	ALK-positive large B-cell lymphoma	ORPHAnet
0‑L	364055	Severe early-childhood-onset retinal dystrophy	ORPHAnet
0‑L	364063	Infantile epileptic-dyskinetic encephalopathy	ORPHAnet
0‑L	364198	Bipartite talus	ORPHAnet
0‑L	364577	Intellectual disability-brachydactyly-Pierre Robin syndrome	ORPHAnet
0‑L	369837	Intellectual disability-seizures-hypophosphatasia-ophthalmic-skeletal anomalies syndrome	ORPHAnet
0‑L	369840	TRAPPC11-related limb-girdle muscular dystrophy R18	ORPHAnet
0‑L	369847	Intellectual disability-hyperkinetic movement-truncal ataxia syndrome	ORPHAnet
0‑L	369852	Congenital neutropenia-myelofibrosis-nephromegaly syndrome	ORPHAnet
0‑L	369861	Congenital sideroblastic anemia-B-cell immunodeficiency-periodic fever-developmental delay syndrome	ORPHAnet
0‑L	369867	Autosomal recessive intermediate Charcot-Marie-Tooth disease type C	ORPHAnet
0‑L	369873	Obesity due to SIM1 deficiency	ORPHAnet
0‑L	369881	2p21 microdeletion syndrome without cystinuria	ORPHAnet
0‑L	369891	Developmental delay-facial dysmorphism syndrome due to MED13L deficiency	ORPHAnet
0‑L	369897	Mitochondrial DNA depletion syndrome, encephalomyopathic form with variable craniofacial anomalies	ORPHAnet
0‑L	369913	Combined oxidative phosphorylation defect type 17	ORPHAnet
0‑L	369920	Pontocerebellar hypoplasia type 9	ORPHAnet
0‑L	369929	Primary hyperaldosteronism-seizures-neurological abnormalities syndrome	ORPHAnet
0‑L	369939	Severe motor and intellectual disabilities-sensorineural deafness-dystonia syndrome	ORPHAnet
0‑L	369942	CADDS	ORPHAnet
0‑L	369950	Intellectual disability-seizures-macrocephaly-obesity syndrome	ORPHAnet
0‑L	369955	Methylmalonic acidemia with homocystinuria, type cblJ	ORPHAnet
0‑L	369962	Methylmalonic acidemia with homocystinuria, type cblX	ORPHAnet
0‑L	369970	Microcornea-myopic chorioretinal atrophy-telecanthus syndrome	ORPHAnet
0‑L	369979	Finger hyperphalangy-toe anomalies-severe pectus excavatum syndrome	ORPHAnet
0‑L	369992	Severe dermatitis-multiple allergies-metabolic wasting syndrome	ORPHAnet
0‑L	369999	Diffuse palmoplantar keratoderma with painful fissures	ORPHAnet
0‑L	370002	Focal palmoplantar keratoderma with joint keratoses	ORPHAnet
0‑L	370010	Intellectual disability-facial dysmorphism-hand anomalies syndrome	ORPHAnet
0‑L	370015	Spondyloepimetaphyseal dysplasia, Isidor type	ORPHAnet
0‑L	370019	Spondylometaphyseal dysplasia, Czarny-Ratajczak type	ORPHAnet
0‑L	370022	Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome	ORPHAnet
0‑L	370026	Acute myeloid leukemia with t(8;16)(p11;p13) translocation	ORPHAnet
0‑L	370034	Familial syringomyelia	ORPHAnet
0‑L	370039	Angora hair nevus	ORPHAnet
0‑L	370046	Didymosis aplasticosebacea	ORPHAnet
0‑L	370052	SCALP syndrome	ORPHAnet
0‑L	370059	NEVADA syndrome	ORPHAnet
0‑L	370076	Fetal carbamazepine syndrome	ORPHAnet
0‑L	370079	Proximal 16p11.2 microduplication syndrome	ORPHAnet
0‑L	370088	Acute infantile liver failure-multisystemic involvement syndrome	ORPHAnet
0‑L	370091	Oculocutaneous albinism type 5	ORPHAnet
0‑L	370097	Oculocutaneous albinism type 6	ORPHAnet
0‑L	370103	Primary dystonia, DYT17 type	ORPHAnet
0‑L	370109	Ataxia-telangiectasia variant	ORPHAnet
0‑L	370127	Medich giant platelet syndrome	ORPHAnet
0‑L	370131	White platelet syndrome	ORPHAnet
0‑L	370334	Extraskeletal Ewing sarcoma	ORPHAnet
0‑L	370348	Peripheral primitive neuroectodermal tumor	ORPHAnet
0‑L	370396	Small cell carcinoma of the ovary	ORPHAnet
0‑L	370921	STT3A-CDG	ORPHAnet
0‑L	370924	STT3B-CDG	ORPHAnet
0‑L	370927	SSR4-CDG	ORPHAnet
0‑L	370930	XYLT1-CDG	ORPHAnet
0‑L	370933	GM3 synthase deficiency	ORPHAnet
0‑L	370943	Autism spectrum disorder-epilepsy-arthrogryposis syndrome	ORPHAnet
0‑L	370959	Congenital muscular dystrophy with cerebellar involvement	ORPHAnet
0‑L	370968	Congenital muscular dystrophy with intellectual disability	ORPHAnet
0‑L	370980	Congenital muscular dystrophy without intellectual disability	ORPHAnet
0‑L	370997	Muscle-eye-brain disease with bilateral multicystic leucodystrophy	ORPHAnet
0‑L	371007	Congenital muscular dystrophy with hyperlaxity	ORPHAnet
0‑L	371364	Hypotonia-speech impairment-severe cognitive delay syndrome	ORPHAnet
0‑L	371428	Multicentric osteolysis-nodulosis-arthropathy spectrum	ORPHAnet
0‑L	391307	Severe intellectual disability-short stature-behavioral abnormalities-facial dysmorphism syndrome	ORPHAnet
0‑L	391311	Susceptibility to viral and mycobacterial infections due to STAT1 deficiency	ORPHAnet
0‑L	391316	Infantile-onset mesial temporal lobe epilepsy with severe cognitive regression	ORPHAnet
0‑L	391320	East Texas bleeding disorder	ORPHAnet
0‑L	391327	X-linked calvarial hyperostosis	ORPHAnet
0‑L	391330	X-linked osteoporosis with fractures	ORPHAnet
0‑L	391343	Fatal post-viral neurodegenerative disorder	ORPHAnet
0‑L	391348	Growth and developmental delay-hypotonia-vision impairment-lactic acidosis syndrome	ORPHAnet
0‑L	391351	SURF1-related Charcot-Marie-Tooth disease type 4	ORPHAnet
0‑L	391366	Growth retardation-mild developmental delay-chronic hepatitis syndrome	ORPHAnet
0‑L	391372	Intellectual disability-severe speech delay-mild dysmorphism syndrome	ORPHAnet
0‑L	391376	Congenital microcephaly-severe encephalopathy-progressive cerebral atrophy syndrome	ORPHAnet
0‑L	391384	Familial episodic pain syndrome	ORPHAnet
0‑L	391389	Familial episodic pain syndrome with predominantly upper body involvement	ORPHAnet
0‑L	391392	Familial episodic pain syndrome with predominantly lower limb involvement	ORPHAnet
0‑L	391397	Hereditary sensory and autonomic neuropathy type 7	ORPHAnet
0‑L	391408	Primary microcephaly-mild intellectual disability-young-onset diabetes syndrome	ORPHAnet
0‑L	391411	Atypical juvenile parkinsonism	ORPHAnet
0‑L	391417	HSD10 disease	ORPHAnet
0‑L	391428	HSD10 disease, infantile type	ORPHAnet
0‑L	391457	HSD10 disease, neonatal type	ORPHAnet
0‑L	391474	Frontorhiny	ORPHAnet
0‑L	391487	Autoimmune enteropathy and endocrinopathy-susceptibility to chronic infections syndrome	ORPHAnet
0‑L	391490	Adult-onset myasthenia gravis	ORPHAnet
0‑L	391497	Juvenile myasthenia gravis	ORPHAnet
0‑L	391504	Transient neonatal myasthenia gravis	ORPHAnet
0‑L	391641	Feingold syndrome type 1	ORPHAnet
0‑L	391646	Feingold syndrome type 2	ORPHAnet
0‑L	391651	Glomus tumor	ORPHAnet
0‑L	391655	Off-periods in Parkinson disease not responding to oral treatment	ORPHAnet
0‑L	391665	Homozygous familial hypercholesterolemia	ORPHAnet
0‑L	391673	Necrotizing enterocolitis	ORPHAnet
0‑L	391677	Short stature-optic atrophy-Pelger-Huët anomaly syndrome	ORPHAnet
0‑L	391723	Mucinous adenocarcinoma of the appendix	ORPHAnet
0‑L	394529	Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type	ORPHAnet
0‑L	394532	Multiple acyl-CoA dehydrogenase deficiency, mild type	ORPHAnet
0‑L	397587	Deep dermatophytosis	ORPHAnet
0‑L	397590	Silver-Russell syndrome due to a point mutation	ORPHAnet
0‑L	397593	Severe neonatal lactic acidosis due to NFS1-ISD11 complex deficiency	ORPHAnet
0‑L	397596	Activated PI3K-delta syndrome	ORPHAnet
0‑L	397606	PrP systemic amyloidosis	ORPHAnet
0‑L	397612	Macrocephaly-developmental delay syndrome	ORPHAnet
0‑L	397615	Obesity due to CEP19 deficiency	ORPHAnet
0‑L	397618	Foveal hypoplasia-optic nerve decussation defect-anterior segment dysgenesis syndrome	ORPHAnet
0‑L	397623	Short stature-auditory canal atresia-mandibular hypoplasia-skeletal anomalies syndrome	ORPHAnet
0‑L	397685	Familial hyperprolactinemia	ORPHAnet
0‑L	397692	Hereditary isolated aplastic anemia	ORPHAnet
0‑L	397695	3q27.3 microdeletion syndrome	ORPHAnet
0‑L	397709	Intellectual disability-coarse face-macrocephaly-cerebellar hypotrophy syndrome	ORPHAnet
0‑L	397715	Joubert syndrome with Jeune asphyxiating thoracic dystrophy	ORPHAnet
0‑L	397725	COASY protein-associated neurodegeneration	ORPHAnet
0‑L	397735	Autosomal dominant Charcot-Marie-Tooth disease type 2U	ORPHAnet
0‑L	397744	Peripheral neuropathy-myopathy-hoarseness-hearing loss syndrome	ORPHAnet
0‑L	397750	Periodic paralysis with later-onset distal motor neuropathy	ORPHAnet
0‑L	397755	Periodic paralysis with transient compartment-like syndrome	ORPHAnet
0‑L	397758	Retinal dystrophy with inner retinal dysfunction and ganglion cell anomalies	ORPHAnet
0‑L	397787	Severe combined immunodeficiency due to IKK2 deficiency	ORPHAnet
0‑L	397922	Ferro-cerebro-cutaneous syndrome	ORPHAnet
0‑L	397927	Sacral agenesis-abnormal ossification of the vertebral bodies-persistent notochordal canal syndrome	ORPHAnet
0‑L	397933	Severe intellectual disability-progressive postnatal microcephaly-midline stereotypic hand movements syndrome	ORPHAnet
0‑L	397937	Polyglucosan body myopathy type 1	ORPHAnet
0‑L	397941	MAN1B1-CDG	ORPHAnet
0‑L	397946	Autosomal spastic paraplegia type 58	ORPHAnet
0‑L	397951	Microcephaly-thin corpus callosum-intellectual disability syndrome	ORPHAnet
0‑L	397959	TCR-alpha-beta-positive T-cell deficiency	ORPHAnet
0‑L	397964	Combined immunodeficiency due to MALT1 deficiency	ORPHAnet
0‑L	397968	Charcot-Marie-Tooth disease type 2R	ORPHAnet
0‑L	397973	Intellectual disability-obesity-prognathism-eye and skin anomalies syndrome	ORPHAnet
0‑L	398053	Adenocarcinoma of the penis	ORPHAnet
0‑L	398058	Squamous cell carcinoma of the penis	ORPHAnet
0‑L	398063	Refractory celiac disease	ORPHAnet
0‑L	398069	MAGEL2-related Prader-Willi-like syndrome	ORPHAnet
0‑L	398079	SIM1-related Prader-Willi-like syndrome	ORPHAnet
0‑L	398088	Hereditary cryohydrocytosis with normal stomatin	ORPHAnet
0‑L	398097	Neonatal antiphospholipid syndrome	ORPHAnet
0‑L	398109	Neonatal autoimmune hemolytic anemia	ORPHAnet
0‑L	398117	Neonatal dermatomyositis	ORPHAnet
0‑L	398124	Neonatal lupus erythematosus	ORPHAnet
0‑L	398127	Neonatal scleroderma	ORPHAnet
0‑L	398147	Persistent idiopathic facial pain	ORPHAnet
0‑L	398156	Oculoauriculofrontonasal syndrome	ORPHAnet
0‑L	398166	Focal facial dermal dysplasia	ORPHAnet
0‑L	398173	Focal facial dermal dysplasia type II	ORPHAnet
0‑L	398189	Focal facial dermal dysplasia type IV	ORPHAnet
0‑L	398961	Mucinous adenocarcinoma of ovary	ORPHAnet
0‑L	398971	Clear cell adenocarcinoma of the ovary	ORPHAnet
0‑L	398980	Primary peritoneal serous/papillary carcinoma	ORPHAnet
0‑L	398987	Malignant teratoma of ovary	ORPHAnet
0‑L	399058	Alpha-B crystallin-related late-onset myopathy	ORPHAnet
0‑L	399081	KLHL9-related early-onset distal myopathy	ORPHAnet
0‑L	399086	Finnish upper limb-onset distal myopathy	ORPHAnet
0‑L	399096	Distal anoctaminopathy	ORPHAnet
0‑L	399103	Distal nebulin myopathy	ORPHAnet
0‑L	399175	Traumatic avascular necrosis	ORPHAnet
0‑L	399180	Secondary non-traumatic avascular necrosis	ORPHAnet
0‑L	399293	Osteonecrosis of the jaw	ORPHAnet
0‑L	399307	Idiopathic avascular necrosis	ORPHAnet
0‑L	399329	Epiphysiolysis of the hip	ORPHAnet
0‑L	399805	Male infertility with azoospermia or oligozoospermia due to single gene mutation	ORPHAnet
0‑L	399808	Male infertility with teratozoospermia due to single gene mutation	ORPHAnet
0‑L	401764	Pancytopenia-developmental delay syndrome	ORPHAnet
0‑L	401768	Proximal myopathy with extrapyramidal signs	ORPHAnet
0‑L	401777	Optic atrophy-intellectual disability syndrome	ORPHAnet
0‑L	401780	Autosomal recessive spastic paraplegia type 61	ORPHAnet
0‑L	401785	Autosomal recessive spastic paraplegia type 62	ORPHAnet
0‑L	401795	Autosomal recessive spastic paraplegia type 59	ORPHAnet
0‑L	401800	Autosomal recessive spastic paraplegia type 60	ORPHAnet
0‑L	401805	Autosomal recessive spastic paraplegia type 63	ORPHAnet
0‑L	401810	Autosomal recessive spastic paraplegia type 64	ORPHAnet
0‑L	401815	Autosomal recessive spastic paraplegia type 66	ORPHAnet
0‑L	401820	Autosomal recessive spastic paraplegia type 67	ORPHAnet
0‑L	401830	Autosomal recessive spastic paraplegia type 69	ORPHAnet
0‑L	401835	Autosomal recessive spastic paraplegia type 70	ORPHAnet
0‑L	401840	Autosomal recessive spastic paraplegia type 71	ORPHAnet
0‑L	401849	Autosomal spastic paraplegia type 72	ORPHAnet
0‑L	401859	Lipoic acid synthetase deficiency	ORPHAnet
0‑L	401862	Lipoyl transferase 1 deficiency	ORPHAnet
0‑L	401866	Childhood-onset spasticity with hyperglycinemia	ORPHAnet
0‑L	401869	Multiple mitochondrial dysfunctions syndrome type 1	ORPHAnet
0‑L	401874	Multiple mitochondrial dysfunctions syndrome type 2	ORPHAnet
0‑L	401901	Huntington disease-like syndrome due to C9ORF72 expansions	ORPHAnet
0‑L	401911	AXIN2-related attenuated familial adenomatous polyposis	ORPHAnet
0‑L	401920	Fibrolamellar hepatocellular carcinoma	ORPHAnet
0‑L	401923	9q31.1q31.3 microdeletion syndrome	ORPHAnet
0‑L	401935	14q24.1q24.3 microdeletion syndrome	ORPHAnet
0‑L	401942	Familial median cleft of the upper and lower lips	ORPHAnet
0‑L	401945	Moyamoya disease with early-onset achalasia	ORPHAnet
0‑L	401948	Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency	ORPHAnet
0‑L	401953	Episodic ataxia with slurred speech	ORPHAnet
0‑L	401959	Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome	ORPHAnet
0‑L	401964	Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons	ORPHAnet
0‑L	401973	MEND syndrome	ORPHAnet
0‑L	401979	Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type	ORPHAnet
0‑L	401986	1p31p32 microdeletion syndrome	ORPHAnet
0‑L	401996	Karyomegalic interstitial nephritis	ORPHAnet
0‑L	402003	Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering	ORPHAnet
0‑L	402014	Acute myeloid leukemia with t(6;9)(p23;q34)	ORPHAnet
0‑L	402017	Acute myeloid leukemia with t(9;11)(p22;q23)	ORPHAnet
0‑L	402020	Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)	ORPHAnet
0‑L	402023	Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)	ORPHAnet
0‑L	402026	Acute myeloid leukemia with NPM1 somatic mutations	ORPHAnet
0‑L	402035	Eosinophilic colitis	ORPHAnet
0‑L	402041	Autosomal recessive distal renal tubular acidosis	ORPHAnet
0‑L	402075	Familial bicuspid aortic valve	ORPHAnet
0‑L	402082	Progressive myoclonic epilepsy type 5	ORPHAnet
0‑L	402364	Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly	ORPHAnet
0‑L	402823	Hepatitis delta	ORPHAnet
0‑L	404437	Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome	ORPHAnet
0‑L	404440	Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency	ORPHAnet
0‑L	404443	Tatton-Brown-Rahman syndrome	ORPHAnet
0‑L	404448	ADNP syndrome	ORPHAnet
0‑L	404451	FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome	ORPHAnet
0‑L	404454	Alacrimia-choreoathetosis-liver dysfunction syndrome	ORPHAnet
0‑L	404463	Multisystemic smooth muscle dysfunction syndrome	ORPHAnet
0‑L	404466	Female infertility due to zona pellucida defect	ORPHAnet
0‑L	404473	Severe intellectual disability-progressive spastic diplegia syndrome	ORPHAnet
0‑L	404476	Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome	ORPHAnet
0‑L	404493	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency	ORPHAnet
0‑L	404499	Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency	ORPHAnet
0‑L	404507	Chondromyxoid fibroma	ORPHAnet
0‑L	404511	Clear cell papillary renal cell carcinoma	ORPHAnet
0‑L	404514	Acquired cystic disease-associated renal cell carcinoma	ORPHAnet
0‑L	404521	Spinal muscular atrophy with respiratory distress type 2	ORPHAnet
0‑L	404546	DITRA	ORPHAnet
0‑L	404553	Vasculitis due to ADA2 deficiency	ORPHAnet
0‑L	404560	Familial atypical multiple mole melanoma syndrome	ORPHAnet
0‑L	411493	Pontocerebellar hypoplasia type 10	ORPHAnet
0‑L	411501	Williams-Campbell syndrome	ORPHAnet
0‑L	411511	Angelman syndrome due to a point mutation	ORPHAnet
0‑L	411515	Angelman syndrome due to imprinting defect in 15q11-q13	ORPHAnet
0‑L	411527	Central retinal vein occlusion	ORPHAnet
0‑L	411536	Mild phosphoribosylpyrophosphate synthetase superactivity	ORPHAnet
0‑L	411543	Severe phosphoribosylpyrophosphate synthetase superactivity	ORPHAnet
0‑L	411590	Wolfram-like syndrome	ORPHAnet
0‑L	411593	Insulin autoimmune syndrome	ORPHAnet
0‑L	411602	Hereditary late-onset Parkinson disease	ORPHAnet
0‑L	411629	Infantile nephropathic cystinosis	ORPHAnet
0‑L	411634	Juvenile nephropathic cystinosis	ORPHAnet
0‑L	411641	Ocular cystinosis	ORPHAnet
0‑L	411696	Proton-pump inhibitor-responsive esophageal eosinophilia	ORPHAnet
0‑L	411703	Pulmonary non-tuberculous mycobacterial infection	ORPHAnet
0‑L	411709	Renal agenesis	ORPHAnet
0‑L	411712	Maternal riboflavin deficiency	ORPHAnet
0‑L	411777	Generalized eruptive keratoacanthoma	ORPHAnet
0‑L	411788	Familial isolated trichomegaly	ORPHAnet
0‑L	411986	Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome	ORPHAnet
0‑L	412022	Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome	ORPHAnet
0‑L	412035	13q12.3 microdeletion syndrome	ORPHAnet
0‑L	412057	Autosomal recessive cerebellar ataxia due to STUB1 deficiency	ORPHAnet
0‑L	412066	PRKAR1B-related neurodegenerative dementia with intermediate filaments	ORPHAnet
0‑L	412069	AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome	ORPHAnet
0‑L	412181	Epidermolysis bullosa simplex due to BP230 deficiency	ORPHAnet
0‑L	412189	Epidermolysis bullosa simplex due to exophilin 5 deficiency	ORPHAnet
0‑L	412206	Primary failure of tooth eruption	ORPHAnet
0‑L	412217	Dystonia-aphonia syndrome	ORPHAnet
0‑L	418945	Carcinoma of esophagus, salivary gland type	ORPHAnet
0‑L	418951	Undifferentiated carcinoma of esophagus	ORPHAnet
0‑L	418959	Squamous cell carcinoma of the stomach	ORPHAnet
0‑L	420179	Malan overgrowth syndrome	ORPHAnet
0‑L	420259	Secondary pulmonary alveolar proteinosis	ORPHAnet
0‑L	420402	Semicircular canal dehiscence syndrome	ORPHAnet
0‑L	420429	Glycogen storage disease due to acid maltase deficiency, late-onset	ORPHAnet
0‑L	420485	Cranio-cervical dystonia with laryngeal and upper-limb involvement	ORPHAnet
0‑L	420492	Adult-onset cervical dystonia, DYT23 type	ORPHAnet
0‑L	420556	Visual snow syndrome	ORPHAnet
0‑L	420561	Temple-Baraitser syndrome	ORPHAnet
0‑L	420566	Bleeding disorder due to CalDAG-GEFI deficiency	ORPHAnet
0‑L	420573	Severe combined immunodeficiency due to CTPS1 deficiency	ORPHAnet
0‑L	420584	Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome	ORPHAnet
0‑L	420611	Transient myeloproliferative syndrome	ORPHAnet
0‑L	420686	Woolly hair-palmoplantar keratoderma syndrome	ORPHAnet
0‑L	420699	Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency	ORPHAnet
0‑L	420702	Autosomal recessive severe congenital neutropenia due to CSF3R deficiency	ORPHAnet
0‑L	420728	Combined oxidative phosphorylation defect type 20	ORPHAnet
0‑L	420733	Combined oxidative phosphorylation defect type 21	ORPHAnet
0‑L	420741	RIDDLE syndrome	ORPHAnet
0‑L	420789	Autoimmune encephalopathy with parasomnia and obstructive sleep apnea	ORPHAnet
0‑L	420794	Cono-spondylar dysplasia	ORPHAnet
0‑L	422526	Hereditary clear cell renal cell carcinoma	ORPHAnet
0‑L	423275	Spinocerebellar ataxia type 40	ORPHAnet
0‑L	423296	Spinocerebellar ataxia type 38	ORPHAnet
0‑L	423306	Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome	ORPHAnet
0‑L	423384	Autosomal recessive severe congenital neutropenia due to JAGN1 deficiency	ORPHAnet
0‑L	423454	Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome	ORPHAnet
0‑L	423461	Mucolipidosis type III alpha/beta	ORPHAnet
0‑L	423470	Mucolipidosis type III gamma	ORPHAnet
0‑L	423479	X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome	ORPHAnet
0‑L	423693	Double outlet right ventricle with subaortic or doubly committed ventricular septal defect	ORPHAnet
0‑L	423712	Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy	ORPHAnet
0‑L	423717	Cutaneous larva migrans	ORPHAnet
0‑L	423786	Undifferentiated carcinoma of stomach	ORPHAnet
0‑L	423894	Microcephaly-complex motor and sensory axonal neuropathy syndrome	ORPHAnet
0‑L	423968	Squamous cell carcinoma of the small intestine	ORPHAnet
0‑L	423994	Squamous cell carcinoma of the colon	ORPHAnet
0‑L	424002	Squamous cell carcinoma of the rectum	ORPHAnet
0‑L	424016	Adenocarcinoma of the anal canal	ORPHAnet
0‑L	424019	Squamous cell carcinoma of the anal canal	ORPHAnet
0‑L	424027	Progressive myoclonic epilepsy type 8	ORPHAnet
0‑L	424039	Squamous cell carcinoma of pancreas	ORPHAnet
0‑L	424046	Acinar cell carcinoma of pancreas	ORPHAnet
0‑L	424053	Mucinous cystadenocarcinoma of the pancreas	ORPHAnet
0‑L	424058	Intraductal papillary mucinous carcinoma of pancreas	ORPHAnet
0‑L	424065	Solid pseudopapillary carcinoma of pancreas	ORPHAnet
0‑L	424073	Serous cystadenocarcinoma of pancreas	ORPHAnet
0‑L	424080	Osteoclastic giant cell tumor of pancreas	ORPHAnet
0‑L	424099	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	ORPHAnet
0‑L	424107	Congenital myopathy with myasthenic-like onset	ORPHAnet
0‑L	424261	TOR1AIP1-related limb-girdle muscular dystrophy	ORPHAnet
0‑L	424943	Adenocarcinoma of the liver and intrahepatic biliary tract	ORPHAnet
0‑L	424970	Undifferentiated carcinoma of liver and intrahepatic biliary tract	ORPHAnet
0‑L	424975	Squamous cell carcinoma of liver and intrahepatic biliary tract	ORPHAnet
0‑L	424982	Biliary cystadenocarcinoma	ORPHAnet
0‑L	424991	Adenocarcinoma of the gallbladder and extrahepatic biliary tract	ORPHAnet
0‑L	424996	Squamous cell carcinoma of gallbladder and extrahepatic biliary tract	ORPHAnet
0‑L	425120	STING-associated vasculopathy with onset in infancy	ORPHAnet
0‑L	431140	X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome	ORPHAnet
0‑L	431149	Combined immunodeficiency due to OX40 deficiency	ORPHAnet
0‑L	431166	Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection	ORPHAnet
0‑L	431255	Scapuloperoneal spinal muscular atrophy	ORPHAnet
0‑L	431272	X-linked scapuloperoneal muscular dystrophy	ORPHAnet
0‑L	431329	Autosomal recessive spastic paraplegia type 57	ORPHAnet
0‑L	431341	Patent urachus	ORPHAnet
0‑L	431344	Urachal sinus	ORPHAnet
0‑L	431347	Urachal diverticulum	ORPHAnet
0‑L	431361	Progressive encephalopathy with leukodystrophy due to DECR deficiency	ORPHAnet
0‑L	434179	Orofaciodigital syndrome type 14	ORPHAnet
0‑L	435329	Familial ossifying fibroma	ORPHAnet
0‑L	435372	Anterior urethral valve	ORPHAnet
0‑L	435387	Autosomal dominant Charcot-Marie-Tooth disease type 2Y	ORPHAnet
0‑L	435438	Progressive myoclonic epilepsy type 7	ORPHAnet
0‑L	435628	Keppen-Lubinsky syndrome	ORPHAnet
0‑L	435638	3p25.3 microdeletion syndrome	ORPHAnet
0‑L	435651	CIDEC-related familial partial lipodystrophy	ORPHAnet
0‑L	435660	LIPE-related familial partial lipodystrophy	ORPHAnet
0‑L	435804	Short stature-advanced bone age-early-onset osteoarthritis syndrome	ORPHAnet
0‑L	435819	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation	ORPHAnet
0‑L	435845	Lethal neonatal spasticity-epileptic encephalopathy syndrome	ORPHAnet
0‑L	435930	Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome	ORPHAnet
0‑L	435934	COG2-CDG	ORPHAnet
0‑L	435938	X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome	ORPHAnet
0‑L	435953	Progeroid features-hepatocellular carcinoma predisposition syndrome	ORPHAnet
0‑L	435988	Chronic atrial and intestinal dysrhythmia syndrome	ORPHAnet
0‑L	435998	Autosomal recessive intermediate Charcot-Marie-Tooth disease type D	ORPHAnet
0‑L	436003	Contractures-developmental delay-Pierre Robin syndrome	ORPHAnet
0‑L	436141	Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome	ORPHAnet
0‑L	436144	Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome	ORPHAnet
0‑L	436151	Intellectual disability-expressive aphasia-facial dysmorphism syndrome	ORPHAnet
0‑L	436159	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency	ORPHAnet
0‑L	436166	Periodic fever-infantile enterocolitis-autoinflammatory syndrome	ORPHAnet
0‑L	436169	Thrombomodulin-related bleeding disorder	ORPHAnet
0‑L	436174	Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome	ORPHAnet
0‑L	436182	Microcephalic primordial dwarfism-insulin resistance syndrome	ORPHAnet
0‑L	436242	Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease	ORPHAnet
0‑L	436245	Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome	ORPHAnet
0‑L	436252	Combined immunodeficiency-enteropathy spectrum	ORPHAnet
0‑L	436271	Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy	ORPHAnet
0‑L	436274	Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa	ORPHAnet
0‑L	437552	Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity	ORPHAnet
0‑L	437572	MYH7-related late-onset scapuloperoneal muscular dystrophy	ORPHAnet
0‑L	438075	Ketoacidosis due to monocarboxylate transporter-1 deficiency	ORPHAnet
0‑L	438114	RARS-related autosomal recessive hypomyelinating leukodystrophy	ORPHAnet
0‑L	438117	Steel syndrome	ORPHAnet
0‑L	438134	PCNA-related progressive neurodegenerative photosensitivity syndrome	ORPHAnet
0‑L	438159	STAT3-related early-onset multisystem autoimmune disease	ORPHAnet
0‑L	438178	Fatty acyl-CoA reductase 1 deficiency	ORPHAnet
0‑L	438207	Severe autosomal recessive macrothrombocytopenia	ORPHAnet
0‑L	438213	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome	ORPHAnet
0‑L	438216	PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation	ORPHAnet
0‑L	438266	Progressive encephalomyelitis with rigidity and myoclonus	ORPHAnet
0‑L	438274	GCGR-related hyperglucagonemia	ORPHAnet
0‑L	438279	Human infection by orthopoxvirus	ORPHAnet
0‑L	439167	Placental insufficiency	ORPHAnet
0‑L	439175	Pediatric arterial ischemic stroke	ORPHAnet
0‑L	439196	Zinc-responsive necrolytic acral erythema	ORPHAnet
0‑L	439202	Non-recovering obstetric brachial plexus lesion	ORPHAnet
0‑L	439212	Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome	ORPHAnet
0‑L	439218	KCNQ2-related epileptic encephalopathy	ORPHAnet
0‑L	439224	ALECT2 amyloidosis	ORPHAnet
0‑L	439232	AApoAIV amyloidosis	ORPHAnet
0‑L	439254	ITM2B amyloidosis	ORPHAnet
0‑L	439729	Cutaneous polyarteritis nodosa	ORPHAnet
0‑L	439737	Primary polyarteritis nodosa	ORPHAnet
0‑L	439746	Secondary polyarteritis nodosa	ORPHAnet
0‑L	439755	Single-organ polyarteritis nodosa	ORPHAnet
0‑L	439762	Systemic polyarteritis nodosa	ORPHAnet
0‑L	439822	PDE4D haploinsufficiency syndrome	ORPHAnet
0‑L	439854	Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease	ORPHAnet
0‑L	439881	Plastic bronchitis	ORPHAnet
0‑L	439897	Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome	ORPHAnet
0‑L	440221	Congenital oculomotor nerve palsy	ORPHAnet
0‑L	440233	Congenital abducens nerve palsy	ORPHAnet
0‑L	440354	Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome	ORPHAnet
0‑L	440368	Necrotizing soft tissue infection	ORPHAnet
0‑L	440392	Interstitial lung disease due to SP-C deficiency	ORPHAnet
0‑L	440402	Interstitial lung disease due to ABCA3 deficiency	ORPHAnet
0‑L	440427	Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency	ORPHAnet
0‑L	440437	Familial colorectal cancer Type X	ORPHAnet
0‑L	440706	Ribose-5-P isomerase deficiency	ORPHAnet
0‑L	440713	Isolated sedoheptulokinase deficiency	ORPHAnet
0‑L	440724	Extensive peripapillary myelinated nerve fibers	ORPHAnet
0‑L	440727	Combined hamartoma of the retina and retinal pigment epithelium	ORPHAnet
0‑L	440731	L-ferritin deficiency	ORPHAnet
0‑L	440987	Isolated agenesis of gallbladder	ORPHAnet
0‑L	441447	Early-onset posterior subcapsular cataract	ORPHAnet
0‑L	441452	Early-onset lamellar cataract	ORPHAnet
0‑L	442582	AH amyloidosis	ORPHAnet
0‑L	442835	Non-specific early-onset epileptic encephalopathy	ORPHAnet
0‑L	443057	Sporadic porphyria cutanea tarda	ORPHAnet
0‑L	443062	Familial porphyria cutanea tarda	ORPHAnet
0‑L	443070	Hemicrania continua	ORPHAnet
0‑L	443073	Charcot-Marie-Tooth disease type 2S	ORPHAnet
0‑L	443079	Central serous chorioretinopathy	ORPHAnet
0‑L	443084	Baroreflex failure	ORPHAnet
0‑L	443087	46,XY disorder of sex development due to testicular 17,20-desmolase deficiency	ORPHAnet
0‑L	443098	Hyperostosis cranialis interna	ORPHAnet
0‑L	443101	Hypothalamic adipsic hypernatraemia syndrome	ORPHAnet
0‑L	443159	Lymphoplasmacytic lymphoma without IgM production	ORPHAnet
0‑L	443162	NDE1-related microhydranencephaly	ORPHAnet
0‑L	443167	NUT midline carcinoma	ORPHAnet
0‑L	443173	Postpartum psychosis	ORPHAnet
0‑L	443180	Spontaneous intracranial hypotension	ORPHAnet
0‑L	443192	Classic stiff person syndrome	ORPHAnet
0‑L	443197	X-linked erythropoietic protoporphyria	ORPHAnet
0‑L	443227	Paratyphoid fever	ORPHAnet
0‑L	443236	Postural orthostatic tachycardia syndrome due to NET deficiency	ORPHAnet
0‑L	443291	HIV-associated cancer	ORPHAnet
0‑L	443804	Focal stiff limb syndrome	ORPHAnet
0‑L	443811	PGM3-CDG	ORPHAnet
0‑L	443950	DNAJB2-related Charcot-Marie-Tooth disease type 2	ORPHAnet
0‑L	443988	Ventriculomegaly-cystic kidney disease	ORPHAnet
0‑L	443995	Mandibulofacial dysostosis with alopecia	ORPHAnet
0‑L	444002	11q22.2q22.3 microdeletion syndrome	ORPHAnet
0‑L	444013	Combined oxidative phosphorylation defect type 23	ORPHAnet
0‑L	444048	46,XX ovarian dysgenesis-short stature syndrome	ORPHAnet
0‑L	444051	20q11.2 microdeletion syndrome	ORPHAnet
0‑L	444069	Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome	ORPHAnet
0‑L	444072	Cerebellar-facial-dental syndrome	ORPHAnet
0‑L	444077	Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome	ORPHAnet
0‑L	444092	Autoimmune interstitial lung disease-arthritis syndrome	ORPHAnet
0‑L	444099	Autosomal dominant spastic paraplegia type 73	ORPHAnet
0‑L	444138	Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome	ORPHAnet
0‑L	444316	Idiopathic phalangeal acro-osteolysis	ORPHAnet
0‑L	444458	Combined oxidative phosphorylation defect type 24	ORPHAnet
0‑L	444463	Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome	ORPHAnet
0‑L	444490	Familial chylomicronemia syndrome	ORPHAnet
0‑L	445018	Combined immunodeficiency due to LRBA deficiency	ORPHAnet
0‑L	445038	3-methylglutaconic aciduria type 7	ORPHAnet
0‑L	445062	Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome	ORPHAnet
0‑L	445110	Limb-girdle muscular dystrophy due to POMK deficiency	ORPHAnet
0‑L	447731	NIK deficiency	ORPHAnet
0‑L	447737	DOCK2 deficiency	ORPHAnet
0‑L	447740	Susceptibility to localized juvenile periodontitis	ORPHAnet
0‑L	447753	Autosomal dominant spastic paraplegia type 9A	ORPHAnet
0‑L	447757	Autosomal dominant spastic paraplegia type 9B	ORPHAnet
0‑L	447760	Autosomal recessive spastic paraplegia type 9B	ORPHAnet
0‑L	447764	IgG4-related sclerosing cholangitis	ORPHAnet
0‑L	447774	Secondary sclerosing cholangitis	ORPHAnet
0‑L	447777	Keratocystic odontogenic tumor	ORPHAnet
0‑L	447784	Mitochondrial pyruvate carrier deficiency	ORPHAnet
0‑L	447788	Cerebral visual impairment	ORPHAnet
0‑L	447795	Lipoyl transferase 2 deficiency	ORPHAnet
0‑L	447877	Polymerase proofreading-related adenomatous polyposis	ORPHAnet
0‑L	447881	Idiopathic dropped head syndrome	ORPHAnet
0‑L	447893	Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome	ORPHAnet
0‑L	447896	Tremor-ataxia-central hypomyelination syndrome	ORPHAnet
0‑L	447954	Combined oxidative phosphorylation defect type 25	ORPHAnet
0‑L	447961	Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome	ORPHAnet
0‑L	447964	Autosomal dominant Charcot-Marie-Tooth disease type 2V	ORPHAnet
0‑L	447974	Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome	ORPHAnet
0‑L	447977	Progressive scapulohumeroperoneal distal myopathy	ORPHAnet
0‑L	447980	19p13.3 microduplication syndrome	ORPHAnet
0‑L	447997	Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome	ORPHAnet
0‑L	448010	CAD-CDG	ORPHAnet
0‑L	448237	Zika virus disease	ORPHAnet
0‑L	448242	Autosomal recessive brachyolmia	ORPHAnet
0‑L	448251	Progressive autosomal recessive ataxia-deafness syndrome	ORPHAnet
0‑L	448264	Isolated focal non-epidermolytic palmoplantar keratoderma	ORPHAnet
0‑L	448267	Regressive spondylometaphyseal dysplasia	ORPHAnet
0‑L	448270	Ectopia cordis	ORPHAnet
0‑L	449266	Pleural empyema	ORPHAnet
0‑L	449280	Scedosporiosis	ORPHAnet
0‑L	449285	Snakebite envenomation	ORPHAnet
0‑L	449291	Symptomatic form of fragile X syndrome in female carriers	ORPHAnet
0‑L	449395	IgG4-related kidney disease	ORPHAnet
0‑L	449400	IgG4-related aortitis	ORPHAnet
0‑L	449427	IgG4-related pachymeningitis	ORPHAnet
0‑L	449432	IgG4-related submandibular gland disease	ORPHAnet
0‑L	449563	IgG4-related ophthalmic disease	ORPHAnet
0‑L	449566	Eosinophilic angiocentric fibrosis	ORPHAnet
0‑L	450322	Polyclonal hyperviscosity syndrome	ORPHAnet
0‑L	451602	Primary cutaneous plasmacytosis	ORPHAnet
0‑L	451607	Cutaneous pseudolymphoma	ORPHAnet
0‑L	451612	Familial congenital nasolacrimal duct obstruction	ORPHAnet
0‑L	453499	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome	ORPHAnet
0‑L	453504	Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to a point mutation	ORPHAnet
0‑L	453510	Congenital insensitivity to pain with severe intellectual disability	ORPHAnet
0‑L	453521	Autosomal recessive cerebellar ataxia due to CWF19L1 deficiency	ORPHAnet
0‑L	453533	Polyendocrine-polyneuropathy syndrome	ORPHAnet
0‑L	454706	Progressive muscular atrophy	ORPHAnet
0‑L	454710	Anti-p200 pemphigoid	ORPHAnet
0‑L	454714	Plasma cell leukemia	ORPHAnet
0‑L	454718	Holmes-Adie syndrome	ORPHAnet
0‑L	454723	Endometrioid carcinoma of ovary	ORPHAnet
0‑L	454742	Variably protease-sensitive prionopathy	ORPHAnet
0‑L	454745	Kuru	ORPHAnet
0‑L	454750	Isolated tracheoesophageal fistula	ORPHAnet
0‑L	454821	Pleomorphic salivary gland adenoma	ORPHAnet
0‑L	454831	Acute radiation syndrome	ORPHAnet
0‑L	454836	Avian influenza	ORPHAnet
0‑L	454840	NTHL1-related attenuated familial adenomatous polyposis	ORPHAnet
0‑L	454887	Corticobasal syndrome	ORPHAnet
0‑L	456298	1p35.2 microdeletion syndrome	ORPHAnet
0‑L	456312	Infantile multisystem neurologic-endocrine-pancreatic disease	ORPHAnet
0‑L	456318	Hereditary sensory neuropathy-deafness-dementia syndrome	ORPHAnet
0‑L	456328	X-linked myotubular myopathy-abnormal genitalia syndrome	ORPHAnet
0‑L	456333	Hereditary neuroendocrine tumor of small intestine	ORPHAnet
0‑L	456369	Polyglucosan body myopathy type 2	ORPHAnet
0‑L	457050	Autosomal dominant mitochondrial myopathy with exercise intolerance	ORPHAnet
0‑L	457077	TAFRO syndrome	ORPHAnet
0‑L	457083	Isolated splenogonadal fusion	ORPHAnet
0‑L	457088	Predisposition to invasive fungal disease due to CARD9 deficiency	ORPHAnet
0‑L	457095	Actinomycosis	ORPHAnet
0‑L	457185	Neonatal encephalomyopathy-cardiomyopathy-respiratory distress syndrome	ORPHAnet
0‑L	457193	Autosomal dominant intellectual disability-craniofacial anomalies-cardiac defects syndrome	ORPHAnet
0‑L	457205	Infantile-onset axonal motor and sensory neuropathy-optic atrophy-neurodegenerative syndrome	ORPHAnet
0‑L	457212	Progressive essential tremor-speech impairment-facial dysmorphism-intellectual disability-abnormal behavior syndrome	ORPHAnet
0‑L	457223	Syndromic sensorineural deafness due to combined oxidative phosphorylation defect	ORPHAnet
0‑L	457240	X-linked intellectual disability-short stature-overweight syndrome	ORPHAnet
0‑L	457246	Clear cell sarcoma of kidney	ORPHAnet
0‑L	457260	X-linked intellectual disability-hypotonia-movement disorder syndrome	ORPHAnet
0‑L	457265	Progressive myoclonic epilepsy type 9	ORPHAnet
0‑L	457279	Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome	ORPHAnet
0‑L	457284	Microcephaly-corpus callosum hypoplasia-intellectual disability-facial dysmorphism syndrome	ORPHAnet
0‑L	457351	Microcephaly-intellectual disability-sensorineural hearing loss-epilepsy-abnormal muscle tone syndrome	ORPHAnet
0‑L	457359	Megalencephaly-severe kyphoscoliosis-overgrowth syndrome	ORPHAnet
0‑L	457365	Intellectual disability-muscle weakness-short stature-facial dysmorphism syndrome	ORPHAnet
0‑L	457375	ITPA-related lethal infantile neurological disorder with cataract and cardiac involvement	ORPHAnet
0‑L	457378	Complex lethal osteochondrodysplasia	ORPHAnet
0‑L	457395	Progressive spondyloepimetaphyseal dysplasia-short stature-short fourth metatarsals-intellectual disability syndrome	ORPHAnet
0‑L	457406	Multiple mitochondrial dysfunctions syndrome type 4	ORPHAnet
0‑L	457485	Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome	ORPHAnet
0‑L	458718	Idiopathic spontaneous coronary artery dissection	ORPHAnet
0‑L	458758	Composite hemangioendothelioma	ORPHAnet
0‑L	458763	Retiform hemangioendothelioma	ORPHAnet
0‑L	458768	Primary intralymphatic angioendothelioma	ORPHAnet
0‑L	458785	Partially involuting congenital hemangioma	ORPHAnet
0‑L	458792	Mixed cystic lymphatic malformation	ORPHAnet
0‑L	458798	Spinocerebellar ataxia type 41	ORPHAnet
0‑L	458803	Spinocerebellar ataxia type 42	ORPHAnet
0‑L	459033	Ataxia-oculomotor apraxia type 4	ORPHAnet
0‑L	459051	Spondyloepiphyseal dysplasia, Stanescu type	ORPHAnet
0‑L	459056	Autosomal recessive spastic paraplegia type 75	ORPHAnet
0‑L	459061	Craniofacial dysplasia-short stature-ectodermal anomalies-intellectual disability syndrome	ORPHAnet
0‑L	459070	X-linked intellectual disability-cerebellar hypoplasia-spondylo-epiphyseal dysplasia syndrome	ORPHAnet
0‑L	459074	Corpus callosum agenesis-macrocephaly-hypertelorism syndrome	ORPHAnet
0‑L	464282	Spastic paraplegia-severe developmental delay-epilepsy syndrome	ORPHAnet
0‑L	464288	Short stature-brachydactyly-obesity-global developmental delay syndrome	ORPHAnet
0‑L	464306	DYRK1A-related intellectual disability syndrome	ORPHAnet
0‑L	464311	Intellectual disability syndrome due to a DYRK1A point mutation	ORPHAnet
0‑L	464318	Verrucous hemangioma	ORPHAnet
0‑L	464321	Multifocal lymphangioendotheliomatosis-thrombocytopenia syndrome	ORPHAnet
0‑L	464329	Kaposiform lymphangiomatosis	ORPHAnet
0‑L	464336	BENTA disease	ORPHAnet
0‑L	464343	Catastrophic antiphospholipid syndrome	ORPHAnet
0‑L	464359	Benign metanephric tumor	ORPHAnet
0‑L	464366	NEK9-related lethal skeletal dysplasia	ORPHAnet
0‑L	464370	Neonatal alloimmune neutropenia	ORPHAnet
0‑L	464440	Primary dystonia, DYT27 type	ORPHAnet
0‑L	464443	COG6-CGD	ORPHAnet
0‑L	464453	Acquired methemoglobinemia	ORPHAnet
0‑L	464458	Paracetamol poisoning	ORPHAnet
0‑L	464724	Fever-associated acute infantile liver failure syndrome	ORPHAnet
0‑L	464738	Basel-Vanagaite-Smirin-Yosef syndrome	ORPHAnet
0‑L	464756	Familial gastric type 1 neuroendocrine tumor	ORPHAnet
0‑L	464760	Familial cavitary optic disc anomaly	ORPHAnet
0‑L	465508	Symptomatic form of hemochromatosis type 1	ORPHAnet
0‑L	465824	Fetal encasement syndrome	ORPHAnet
0‑L	466026	Class I glucose-6-phosphate dehydrogenase deficiency	ORPHAnet
0‑L	466650	Exercise-induced malignant hyperthermia	ORPHAnet
0‑L	466670	Cyanide poisoning	ORPHAnet
0‑L	466677	Scorpion envenomation	ORPHAnet
0‑L	466682	Euthyroid Graves orbitopathy	ORPHAnet
0‑L	466688	Severe intellectual disability-corpus callosum agenesis-facial dysmorphism-cerebellar ataxia syndrome	ORPHAnet
0‑L	466695	Supratip dysplasia	ORPHAnet
0‑L	466703	TMEM199-CDG	ORPHAnet
0‑L	466718	Martinique crinkled retinal pigment epitheliopathy	ORPHAnet
0‑L	466722	Autosomal recessive spastic paraplegia type 77	ORPHAnet
0‑L	466729	Familial patent arterial duct	ORPHAnet
0‑L	466768	Autosomal dominant Charcot-Marie-Tooth disease type 2Z	ORPHAnet
0‑L	466775	Autosomal recessive Charcot-Marie-Tooth disease type 2X	ORPHAnet
0‑L	466784	Neonatal severe cardiopulmonary failure due to mitochondrial methylation defect	ORPHAnet
0‑L	466791	Macrocephaly-intellectual disability-left ventricular non compaction syndrome	ORPHAnet
0‑L	466794	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	ORPHAnet
0‑L	466801	LIMS2-related limb-girdle muscular dystrophy	ORPHAnet
0‑L	466806	Autosomal dominant thrombocytopenia with platelet secretion defect	ORPHAnet
0‑L	466921	Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome	ORPHAnet
0‑L	466926	Seizures-scoliosis-macrocephaly syndrome	ORPHAnet
0‑L	466934	VPS11-related autosomal recessive hypomyelinating leukodystrophy	ORPHAnet
0‑L	466943	WAC-related facial dysmorphism-developmental delay-behavioral abnormalities syndrome	ORPHAnet
0‑L	466950	Facial dysmorphism-developmental delay-behavioral abnormalities syndrome due to WAC point mutation	ORPHAnet
0‑L	466962	SMARCA4-deficient sarcoma of thorax	ORPHAnet
0‑L	467166	Tubulinopathy-associated dysgyria	ORPHAnet
0‑L	467176	Severe hypotonia-psychomotor developmental delay-strabismus-cardiac septal defect syndrome	ORPHAnet
0‑L	468620	Intellectual disability-epilepsy-extrapyramidal syndrome	ORPHAnet
0‑L	468631	Microcephalic cortical malformations-short stature due to RTTN deficiency	ORPHAnet
0‑L	468635	Cryptogenic multifocal ulcerous stenosing enteritis	ORPHAnet
0‑L	468641	Chronic enteropathy associated with SLCO2A1 gene	ORPHAnet
0‑L	468661	Autosomal recessive spastic paraplegia type 74	ORPHAnet
0‑L	468666	Isolated generalized anhidrosis with normal sweat glands	ORPHAnet
0‑L	468672	Colobomatous macrophthalmia-microcornea syndrome	ORPHAnet
0‑L	468678	White-Sutton syndrome	ORPHAnet
0‑L	468684	CCDC115-CDG	ORPHAnet
0‑L	468699	SLC39A8-CDG	ORPHAnet
0‑L	468717	Rhizomelic chondrodysplasia punctata type 5	ORPHAnet
0‑L	468726	Severe primary trimethylaminuria	ORPHAnet
0‑L	476084	BVES-related limb-girdle muscular dystrophy	ORPHAnet
0‑L	476093	Autosomal dominant distal axonal motor neuropathy-myofibrillar myopathy syndrome	ORPHAnet
0‑L	476096	Erythrokeratodermia-cardiomyopathy syndrome	ORPHAnet
0‑L	476102	Hereditary pediatric Behçet-like disease	ORPHAnet
0‑L	476113	Combined immunodeficiency due to TFRC deficiency	ORPHAnet
0‑L	476119	Autosomal dominant preaxial polydactyly-upperback hypertrichosis syndrome	ORPHAnet
0‑L	476126	Micrognathia-recurrent infections-behavioral abnormalities-mild intellectual disability syndrome	ORPHAnet
0‑L	476394	PMP2-related Charcot-Marie-Tooth disease type 1	ORPHAnet
0‑L	476406	Congenital generalized hypercontractile muscle stiffness syndrome	ORPHAnet
0‑L	477650	Fibroblastic rheumatism	ORPHAnet
0‑L	477661	IL21-related infantile inflammatory bowel disease	ORPHAnet
0‑L	477673	Postnatal microcephaly-infantile hypotonia-spastic diplegia-dysarthria-intellectual disability syndrome	ORPHAnet
0‑L	477684	Combined oxidative phosphorylation defect type 26	ORPHAnet
0‑L	477738	Pediatric multiple sclerosis	ORPHAnet
0‑L	477742	Nodular fasciitis	ORPHAnet
0‑L	477749	Pontine autosomal dominant microangiopathy with leukoencephalopathy	ORPHAnet
0‑L	477774	Combined oxidative phosphorylation defect type 27	ORPHAnet
0‑L	477781	Primary condylar hyperplasia	ORPHAnet
0‑L	477787	Cytosolic phospholipase-A2 alpha deficiency associated bleeding disorder	ORPHAnet
0‑L	477814	Progressive microcephaly-seizures-cortical blindness-developmental delay syndrome	ORPHAnet
0‑L	477817	PMP22-RAI1 contiguous gene duplication syndrome	ORPHAnet
0‑L	477831	Kosaki overgrowth syndrome	ORPHAnet
0‑L	477857	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to complete RORgamma receptor deficiency	ORPHAnet
0‑L	477993	Palatal anomalies-widely spaced teeth-facial dysmorphism-developmental delay syndrome	ORPHAnet
0‑L	478029	Combined oxidative phosphorylation defect type 29	ORPHAnet
0‑L	478042	Combined oxidative phosphorylation defect type 30	ORPHAnet
0‑L	478049	Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome	ORPHAnet
0‑L	478664	Hereditary sensory and autonomic neuropathy type 8	ORPHAnet
0‑L	480476	Progressive familial intrahepatic cholestasis type 5	ORPHAnet
0‑L	480483	Progressive familial intrahepatic cholestasis type 4	ORPHAnet
0‑L	480491	MYO5B-related progressive familial intrahepatic cholestasis	ORPHAnet
0‑L	480501	Choledochal cyst	ORPHAnet
0‑L	480506	Primary intrahepatic lithiasis	ORPHAnet
0‑L	480512	Idiopathic ductopenia	ORPHAnet
0‑L	480520	Caroli syndrome	ORPHAnet
0‑L	480524	Idiopathic peliosis hepatis	ORPHAnet
0‑L	480528	Lethal hydranencephaly-diaphragmatic hernia syndrome	ORPHAnet
0‑L	480531	Congenital portosystemic shunt	ORPHAnet
0‑L	480536	MSH3-related attenuated familial adenomatous polyposis	ORPHAnet
0‑L	480541	High grade B-cell lymphoma with MYC and/ or BCL2 and/or BCL6 rearrangement	ORPHAnet
0‑L	480553	Aneurysmal bone cyst	ORPHAnet
0‑L	480556	Isolated neonatal sclerosing cholangitis	ORPHAnet
0‑L	480682	POGLUT1-related limb-girdle muscular dystrophy R21	ORPHAnet
0‑L	480701	Facial diplegia with paresthesias	ORPHAnet
0‑L	480851	Hereditary thrombocytopenia with early-onset myelofibrosis	ORPHAnet
0‑L	480864	Recurrent metabolic encephalomyopathic crises-rhabdomyolysis-cardiac arrhythmia-intellectual disability syndrome	ORPHAnet
0‑L	480880	X-linked female restricted facial dysmorphism-short stature-choanal atresia-intellectual disability	ORPHAnet
0‑L	480898	Global developmental delay-visual anomalies-progressive cerebellar atrophy-truncal hypotonia syndrome	ORPHAnet
0‑L	480907	X-linked intellectual disability-global development delay-facial dysmorphism-sacral caudal remnant syndrome	ORPHAnet
0‑L	481152	PYCR2-related microcephaly-progressive leukoencephalopathy	ORPHAnet
0‑L	481662	Familial Chilblain lupus	ORPHAnet
0‑L	481665	USP18 deficiency	ORPHAnet
0‑L	481986	Familial schizencephaly	ORPHAnet
0‑L	482077	HTRA1-related autosomal dominant cerebral small vessel disease	ORPHAnet
0‑L	482601	Adenylosuccinate synthetase-like 1-related distal myopathy	ORPHAnet
0‑L	482606	X-linked keloid scarring-reduced joint mobility-increased optic cup-to-disc ratio syndrome	ORPHAnet
0‑L	485275	Acquired schizencephaly	ORPHAnet
0‑L	485350	CLCN4-related X-linked intellectual disability syndrome	ORPHAnet
0‑L	485358	Propylthiouracil embryofetopathy	ORPHAnet
0‑L	485405	16p12.1p12.3 triplication syndrome	ORPHAnet
0‑L	485418	EMILIN-1-related connective tissue disease	ORPHAnet
0‑L	485421	MFF-related encephalopathy due to mitochondrial and peroxisomal fission defect	ORPHAnet
0‑L	485426	Isolated congenital hepatic fibrosis	ORPHAnet
0‑L	486811	Prenatal-onset spinal muscular atrophy with congenital bone fractures	ORPHAnet
0‑L	486815	Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome	ORPHAnet
0‑L	487796	Macrothrombocytopenia-lymphedema-developmental delay-facial dysmorphism-camptodactyly syndrome	ORPHAnet
0‑L	487809	Pediatric collagenous gastritis	ORPHAnet
0‑L	487814	Autosomal dominant Charcot-Marie-Tooth disease type 2 due to DGAT2 mutation	ORPHAnet
0‑L	487825	Pierpont syndrome	ORPHAnet
0‑L	488168	Microcephaly-congenital cataract-psoriasiform dermatitis syndrome	ORPHAnet
0‑L	488191	Female infertility due to oocyte meiotic arrest	ORPHAnet
0‑L	488197	Familial progressive retinal dystrophy-iris coloboma-congenital cataract syndrome	ORPHAnet
0‑L	488232	Split-foot malformation-mesoaxial polydactyly syndrome	ORPHAnet
0‑L	488239	Acute macular neuroretinopathy	ORPHAnet
0‑L	488265	Osteofibrous dysplasia	ORPHAnet
0‑L	488280	14q32 duplication syndrome	ORPHAnet
0‑L	488333	Autosomal dominant Charcot-Marie-Tooth disease type 2W	ORPHAnet
0‑L	488434	Camptodactyly syndrome, Guadalajara type 3	ORPHAnet
0‑L	488437	SIX2-related frontonasal dysplasia	ORPHAnet
0‑L	488586	Congenital amyoplasia	ORPHAnet
0‑L	488594	Autosomal recessive spastic paraplegia type 76	ORPHAnet
0‑L	488613	Global developmental delay-neuro-ophthalmological abnormalities-seizures-intellectual disability syndrome	ORPHAnet
0‑L	488618	Transketolase deficiency	ORPHAnet
0‑L	488627	Severe growth deficiency-strabismus-extensive dermal melanocytosis-intellectual disability syndrome	ORPHAnet
0‑L	488632	TBCK-related intellectual disability syndrome	ORPHAnet
0‑L	488635	Early-onset epilepsy-intellectual disability-brain anomalies syndrome	ORPHAnet
0‑L	488642	TELO2-related intellectual disability-neurodevelopmental disorder	ORPHAnet
0‑L	488647	DDX41-related hematologic malignancy predisposition syndrome	ORPHAnet
0‑L	488650	Distal myopathy, Tateyama type	ORPHAnet
0‑L	493342	Vibratory urticaria	ORPHAnet
0‑L	493348	Vibratory angioedema	ORPHAnet
0‑L	494344	RERE-related neurodevelopmental syndrome	ORPHAnet
0‑L	494418	Vulvar carcinoma	ORPHAnet
0‑L	494421	Sacrococcygeal teratoma	ORPHAnet
0‑L	494424	Extracranial carotid artery aneurysm	ORPHAnet
0‑L	494428	Idiopathic pleuroparenchymal fibroelastosis	ORPHAnet
0‑L	494433	MIRAGE syndrome	ORPHAnet
0‑L	494439	Retinitis pigmentosa-hearing loss-premature aging-short stature-facial dysmorphism syndrome	ORPHAnet
0‑L	494444	DIAPH1-related sensorineural hearing loss-thrombocytopenia syndrome	ORPHAnet
0‑L	494448	Vulvar squamous cell carcinoma	ORPHAnet
0‑L	494451	Vulvar basal cell carcinoma	ORPHAnet
0‑L	494454	Vulvar adenocarcinoma	ORPHAnet
0‑L	494526	Infantile-onset generalized dyskinesia with orofacial involvement	ORPHAnet
0‑L	494541	Childhood-onset benign chorea with striatal involvement	ORPHAnet
0‑L	494547	Squamous cell carcinoma of the hypopharynx	ORPHAnet
0‑L	494550	Squamous cell carcinoma of the larynx	ORPHAnet
0‑L	495274	Charcot-Marie-Tooth disease type 2T	ORPHAnet
0‑L	495818	9q33.3q34.11 microdeletion syndrome	ORPHAnet
0‑L	495844	C11ORF73-related autosomal recessive hypomyelinating leukodystrophy	ORPHAnet
0‑L	495875	Congenital labioscrotal agenesis-cerebellar malformation-corneal dystrophy-facial dysmorphism syndrome	ORPHAnet
0‑L	495879	Congenital agenesis of the scrotum	ORPHAnet
0‑L	495930	Familial monosomy 7 syndrome	ORPHAnet
0‑L	496641	Early-onset progressive diffuse brain atrophy-microcephaly-muscle weakness-optic atrophy syndrome	ORPHAnet
0‑L	496686	Kyphosis-lateral tongue atrophy-myofibrillar myopathy syndrome	ORPHAnet
0‑L	496689	Kyphoscoliosis-lateral tongue atrophy-hereditary spastic paraplegia syndrome	ORPHAnet
0‑L	496693	Omphalocele-diaphragmatic hernia-cardiovascular anomalies-radial ray defect syndrome	ORPHAnet
0‑L	496751	EVEN-plus syndrome	ORPHAnet
0‑L	496756	Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome	ORPHAnet
0‑L	496790	Ocular anomalies-axonal neuropathy-developmental delay syndrome	ORPHAnet
0‑L	497188	Diffuse intrinsic pontine glioma	ORPHAnet
0‑L	497737	Epidermolytic nevus	ORPHAnet
0‑L	497757	MME-related autosomal dominant Charcot Marie Tooth disease type 2	ORPHAnet
0‑L	497764	Spinocerebellar ataxia type 43	ORPHAnet
0‑L	497906	Childhood-onset basal ganglia degeneration syndrome	ORPHAnet
0‑L	498228	Phyllodes tumor of the prostate	ORPHAnet
0‑L	498251	Menstrual cycle-dependent periodic fever	ORPHAnet
0‑L	498359	Aquagenic palmoplantar keratoderma	ORPHAnet
0‑L	498474	Hyaline fibromatosis syndrome	ORPHAnet
0‑L	498481	LRP5-related primary osteoporosis	ORPHAnet
0‑L	498485	Overgrowth-metaphyseal undermodeling-spondylar dysplasia syndrome	ORPHAnet
0‑L	498488	Overgrowth syndrome with 2q37 translocation	ORPHAnet
0‑L	498494	Mirror-image polydactyly	ORPHAnet
0‑L	498497	Short rib-polydactyly syndrome type 5	ORPHAnet
0‑L	498602	Sugarman brachydactyly	ORPHAnet
0‑L	498693	MYBPC1-related autosomal recessive non-lethal arthrogryposis multiplex congenita syndrome	ORPHAnet
0‑L	499004	Tuberculous meningitis	ORPHAnet
0‑L	499009	Congenital syphilis	ORPHAnet
0‑L	499085	Chronic relapsing inflammatory optic neuropathy	ORPHAnet
0‑L	499096	Isolated optic neuritis	ORPHAnet
0‑L	499103	Recurrent idiopathic neuroretinitis	ORPHAnet
0‑L	499107	Idiopathic optic perineuritis	ORPHAnet
0‑L	499182	Pilomatrix carcinoma	ORPHAnet
0‑L	500055	16p13.2 microdeletion syndrome	ORPHAnet
0‑L	500062	Infantile-onset periodic fever-panniculitis-dermatosis syndrome	ORPHAnet
0‑L	500095	Tall stature-intellectual disability-renal anomalies syndrome	ORPHAnet
0‑L	500135	Multinucleated neurons-anhydramnios-renal dysplasia-cerebellar hypoplasia-hydranencephaly syndrome	ORPHAnet
0‑L	500144	Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome	ORPHAnet
0‑L	500150	Brain malformations-musculoskeletal abnormalities-facial dysmorphism-intellectual disability syndrome	ORPHAnet
0‑L	500159	Microcephaly-corpus callosum and cerebellar vermis hypoplasia-facial dysmorphism-intellectual disability syndrom	ORPHAnet
0‑L	500163	Witteveen-Kolk syndrome	ORPHAnet
0‑L	500166	SIN3A-related intellectual disability syndrome due to a point mutation	ORPHAnet
0‑L	500180	Childhood-onset motor and cognitive regression syndrome with extrapyramidal movement disorder	ORPHAnet
0‑L	500188	X-linked external auditory canal atresia-dilated internal auditory canal-facial dysmorphism syndrome	ORPHAnet
0‑L	500464	Squamous cell carcinoma of the nasal cavity and paranasal sinuses	ORPHAnet
0‑L	500478	Squamous cell carcinoma of the oropharynx	ORPHAnet
0‑L	500481	Squamous cell carcinoma of salivary glands	ORPHAnet
0‑L	500533	Polyhydramnios-megalencephaly-symptomatic epilepsy syndrome	ORPHAnet
0‑L	500545	Severe neurodevelopmental disorder with feeding difficulties-stereotypic hand movement-bilateral cataract	ORPHAnet
0‑L	500548	Osteosclerotic metaphyseal dysplasia	ORPHAnet
0‑L	502305	Cochleovestibular malformation	ORPHAnet
0‑L	502318	Cochlear nerve deficiency	ORPHAnet
0‑L	502363	Squamous cell carcinoma of the oral cavity	ORPHAnet
0‑L	502366	Squamous cell carcinoma of the lip	ORPHAnet
0‑L	502423	Mitochondrial myopathy-cerebellar ataxia-pigmentary retinopathy syndrome	ORPHAnet
0‑L	502430	Metopic ridging-ptosis-facial dysmorphism syndrome	ORPHAnet
0‑L	502434	STAG1-related intellectual disability-facial dysmorphism-gastroesophageal reflux syndrome	ORPHAnet
0‑L	502437	4q25 proximal deletion syndrome	ORPHAnet
0‑L	502444	Alkaline ceramidase 3 deficiency	ORPHAnet
0‑L	502499	Erythema multiforme major	ORPHAnet
0‑L	504476	Cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome	ORPHAnet
0‑L	504523	Severe combined immunodeficiency due to LAT deficiency	ORPHAnet
0‑L	504530	Combined immunodeficiency due to Moesin deficiency	ORPHAnet
0‑L	505208	3-methylglutaconic aciduria type 8	ORPHAnet
0‑L	505216	3-methylglutaconic aciduria type 9	ORPHAnet
0‑L	505227	Combined immunodeficiency due to GINS1 deficiency	ORPHAnet
0‑L	505237	Early-onset seizures-distal limb anomalies-facial dysmorphism-global developmental delay syndrome	ORPHAnet
0‑L	505242	Psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome	ORPHAnet
0‑L	505248	Mucopolysaccharidosis-like syndrome with congenital heart defects and hematopoietic disorders	ORPHAnet
0‑L	505395	Ventilator-induced diaphragmatic dysfunction	ORPHAnet
0‑L	505652	CDKL5-deficiency disorder	ORPHAnet
0‑L	506075	Non-functioning neuroendocrine tumor of pancreas	ORPHAnet
0‑L	506090	Serotonin-producing neuroendocrine tumor of pancreas	ORPHAnet
0‑L	506098	Neuroendocrine carcinoma of pancreas	ORPHAnet
0‑L	506112	Mixed neuroendocrine and non-neuroendocrine neoplasm of pancreas	ORPHAnet
0‑L	506136	Neuroendocrine neoplasm of esophagus	ORPHAnet
0‑L	506307	Stromme syndrome	ORPHAnet
0‑L	506334	Familial steroid-resistant nephrotic syndrome with adrenal insufficiency	ORPHAnet
0‑L	506353	Autosomal recessive complex spastic paraplegia due to Kennedy pathway dysfunction	ORPHAnet
0‑L	506358	Gabriele-de Vries syndrome	ORPHAnet
0‑L	506784	Stevens-Johnson syndrome/toxic epidermal necrolysis overlap syndrome	ORPHAnet
0‑L	508093	MEPAN syndrome	ORPHAnet
0‑L	508410	Familial intestinal malrotation	ORPHAnet
0‑L	508476	Cleft lip and palate-craniofacial dysmorphism-congenital heart defect-hearing loss syndrome	ORPHAnet
0‑L	508488	8q24.3 microdeletion syndrome	ORPHAnet
0‑L	508498	Intellectual disability-cardiac anomalies-short stature-joint laxity syndrome	ORPHAnet
0‑L	508501	Oral-facial-digital syndrome with short stature and brachymesophalangy	ORPHAnet
0‑L	508512	Intrauterine growth restriction-congenital multiple café-au-lait macules-increased sister chromatid exchange syndrome	ORPHAnet
0‑L	508523	Hyperphenylalaninemia due to DNAJC12 deficiency	ORPHAnet
0‑L	508529	Intermediate epidermolysis bullosa simplex with cardiomyopathy	ORPHAnet
0‑L	508533	Skeletal dysplasia-T-cell immunodeficiency-developmental delay syndrome	ORPHAnet
0‑L	508542	Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndrome	ORPHAnet
0‑L	512017	Chronic lymphoproliferative disorder of natural killer cells	ORPHAnet
0‑L	512103	Autosomal recessive epidermolytic ichthyosis	ORPHAnet
0‑L	512260	Congenital cerebellar ataxia due to RNU12 mutation	ORPHAnet
0‑L	513436	Autosomal recessive spastic paraplegia type 78	ORPHAnet
0‑L	513456	Intellectual disability-seizures-abnormal gait-facial dysmorphism syndrome	ORPHAnet
0‑L	514352	Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome	ORPHAnet
0‑L	519384	Congenital cystic eye	ORPHAnet
0‑L	519386	Isolated congenital entropion	ORPHAnet
0‑L	519388	Autosomal recessive anterior segment dysgenesis	ORPHAnet
0‑L	519390	Isolated blepharochalasis	ORPHAnet
0‑L	519392	Isolated iridoschisis	ORPHAnet
0‑L	519396	Isolated microspherophakia	ORPHAnet
0‑L	519398	Isolated foveal hypoplasia	ORPHAnet
0‑L	519400	Peripapillary staphyloma	ORPHAnet
0‑L	519402	Isolated megalopapilla	ORPHAnet
0‑L	519404	Optic disc pit	ORPHAnet
0‑L	519406	Thygeson superficial punctate keratitis	ORPHAnet
0‑L	519408	Mooren ulcer	ORPHAnet
0‑L	519410	Terrien marginal degeneration	ORPHAnet
0‑L	519930	Fungal keratitis	ORPHAnet
0‑L	521123	Radiation-induced plexopathy	ORPHAnet
0‑L	521127	Osteoradionecrosis of the mandible	ORPHAnet
0‑L	521219	Mirizzi syndrome	ORPHAnet
0‑L	521258	Xq25 microduplication syndrome	ORPHAnet
0‑L	521305	Proximal myopathy with focal depletion of mitochondria	ORPHAnet
0‑L	521308	Frontonasal dysplasia-bifid nose-upper limb anomalies syndrome	ORPHAnet
0‑L	521390	Spastic paraplegia-intellectual disability-nystagmus-obesity syndrome	ORPHAnet
0‑L	521406	Dystonia-parkinsonism-hypermanganesemia syndrome	ORPHAnet
0‑L	521411	Autosomal recessive axonal Charcot-Marie-Tooth disease due to copper metabolism defect	ORPHAnet
0‑L	521414	Autosomal dominant Charcot-Marie-Tooth disease type 2DD	ORPHAnet
0‑L	521426	PLAA-associated neurodevelopmental disorder	ORPHAnet
0‑L	521432	Congenital cataract-severe neonatal hepatopathy-global developmental delay syndrome	ORPHAnet
0‑L	521438	Congenital vertebral-cardiac-renal anomalies syndrome	ORPHAnet
0‑L	521445	Microcephaly-facial dysmorphism-ocular anomalies-multiple congenital anomalies syndrome	ORPHAnet
0‑L	521450	LAMA5-related multisystemic syndrome	ORPHAnet
0‑L	522037	Primary autoimmune enteropathy	ORPHAnet
0‑L	522077	Infantile hypotonia-oculomotor anomalies-hyperkinetic movements-developmental delay syndrome	ORPHAnet
0‑L	525731	Pediatric-onset Graves disease	ORPHAnet
0‑L	525738	Prepubertal anorexia nervosa	ORPHAnet
0‑L	527276	Encephalopathy due to mitochondrial and peroxisomal fission defect	ORPHAnet
0‑L	527450	Severe myopia-generalized joint laxity-short stature syndrome	ORPHAnet
0‑L	527468	Diaphragmatic hernia-short bowel-asplenia syndrome	ORPHAnet
0‑L	527497	NKX6-2-related autosomal recessive hypomyelinating leukodystrophy	ORPHAnet
0‑L	528084	Non-specific syndromic intellectual disability	ORPHAnet
0‑L	528091	Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome	ORPHAnet
0‑L	528105	Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome	ORPHAnet
0‑L	528623	Hereditary angioedema with C1Inh deficiency	ORPHAnet
0‑L	528647	Hereditary angioedema with normal C1Inh	ORPHAnet
0‑L	528663	Acquired angioedema with C1Inh deficiency	ORPHAnet
0‑L	529468	Monoclonal mast cell activation syndrome	ORPHAnet
0‑L	529574	Duane retraction syndrome with congenital deafness	ORPHAnet
0‑L	529665	Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome	ORPHAnet
0‑L	529799	Acute bilirubin encephalopathy	ORPHAnet
0‑L	529808	Chronic bilirubin encephalopathy	ORPHAnet
0‑L	529831	Letrozole toxicity	ORPHAnet
0‑L	529852	Combined hepatocellular carcinoma and cholangiocarcinoma	ORPHAnet
0‑L	529864	Secondary erythromelalgia	ORPHAnet
0‑L	529962	17q24.2 microdeletion syndrome	ORPHAnet
0‑L	529965	Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome	ORPHAnet
0‑L	529970	Male infertility due to acephalic spermatozoa	ORPHAnet
0‑L	529977	Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome	ORPHAnet
0‑L	529980	Inflammatory bowel disease-recurrent sinopulmonary infections syndrome	ORPHAnet
0‑L	530033	Dermoid or epidermoid cyst of the central nervous system	ORPHAnet
0‑L	530298	Progressive myoclonic epilepsy with neuroserpin inclusion bodies	ORPHAnet
0‑L	530303	Progressive dementia with neuroserpin inclusion bodies	ORPHAnet
0‑L	530792	RELA fusion-positive ependymoma	ORPHAnet
0‑L	530838	KRT1-related diffuse nonepidermolytic keratoderma	ORPHAnet
0‑L	530849	Familial apolipoprotein A5 deficiency	ORPHAnet
0‑L	530983	Lamb-Shaffer syndrome	ORPHAnet
0‑L	530995	Mixed phenotype acute leukemia	ORPHAnet
0‑L	531151	9q21.13 microdeletion syndrome	ORPHAnet
0‑L	535453	Familial lipase maturation factor 1 deficiency	ORPHAnet
0‑L	535458	Familial GPIHBP1 deficiency	ORPHAnet
0‑L	536467	B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome	ORPHAnet
0‑L	536471	Spondylodysplastic Ehlers-Danlos syndrome	ORPHAnet
0‑L	536516	Myopathic Ehlers-Danlos syndrome	ORPHAnet
0‑L	536532	Classical-like Ehlers-Danlos syndrome type 2	ORPHAnet
0‑L	536545	Kyphoscoliotic Ehlers-Danlos syndrome	ORPHAnet
0‑L	537072	PLG-related hereditary angioedema with normal C1Inh	ORPHAnet
0‑L	538096	Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy	ORPHAnet
0‑L	538101	Congenital axonal neuropathy with encephalopathy	ORPHAnet
0‑L	538574	Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome	ORPHAnet
0‑L	538756	Familial multiple discoid fibromas	ORPHAnet
0‑L	538863	Classic pyoderma gangrenosum	ORPHAnet
0‑L	538866	Pustular pyoderma gangrenosum	ORPHAnet
0‑L	538869	Bullous pyoderma gangrenosum	ORPHAnet
0‑L	538872	Vegetative pyoderma gangrenosum	ORPHAnet
0‑L	538931	X-linked lymphoproliferative disease due to SH2D1A deficiency	ORPHAnet
0‑L	538934	X-linked lymphoproliferative disease due to XIAP deficiency	ORPHAnet
0‑L	538958	Combined immunodeficiency due to CD70 deficiency	ORPHAnet
0‑L	538963	Combined immunodeficiency due to ITK deficiency	ORPHAnet
0‑L	541423	Growth delay-intellectual disability-hepatopathy syndrome	ORPHAnet
0‑L	541443	Anomalous aortic origin of the left coronary artery	ORPHAnet
0‑L	541454	Anomalous aortic origin of the right coronary artery	ORPHAnet
0‑L	541507	Anomalous origin of coronary artery from the pulmonary artery	ORPHAnet
0‑L	542301	Combined immunodeficiency due to CARMIL2 deficiency	ORPHAnet
0‑L	542306	GNB5-related intellectual disability-cardiac arrhythmia syndrome	ORPHAnet
0‑L	542310	Leukoencephalopathy with calcifications and cysts	ORPHAnet
0‑L	542323	CAR T cell therapy-associated cytokine release syndrome	ORPHAnet
0‑L	542568	Quadricuspid aortic valve	ORPHAnet
0‑L	542585	Auditory neuropathy-optic atrophy syndrome	ORPHAnet
0‑L	542592	Necrobiosis lipoidica	ORPHAnet
0‑L	542643	Livedoid vasculopathy	ORPHAnet
0‑L	542657	Isolated hyperchlorhidrosis	ORPHAnet
0‑L	543470	Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome	ORPHAnet
0‑L	544254	SYNGAP1-related developmental and epileptic encephalopathy	ORPHAnet
0‑L	544469	PRUNE1-related neurological syndrome	ORPHAnet
0‑L	544472	Atypical hemolytic uremic syndrome with complement gene abnormality	ORPHAnet
0‑L	544482	Infection-related hemolytic uremic syndrome	ORPHAnet
0‑L	544488	Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome	ORPHAnet
0‑L	544493	Streptococcus pneumoniae-associated hemolytic uremic syndrome	ORPHAnet
0‑L	544503	RNF13-related severe early-onset epileptic encephalopathy	ORPHAnet
0‑L	544578	Congenital primary megaureter, refluxing and obstructed form	ORPHAnet
0‑L	544602	Congenital myopathy with reduced type 2 muscle fibers	ORPHAnet
0‑L	544628	Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome	ORPHAnet
0‑L	555402	NAD(P)HX dehydratase deficiency	ORPHAnet
0‑L	555407	NAD(P)HX epimerase deficiency	ORPHAnet
0‑L	555434	Fibrohistiocytic inflammatory pseudotumor of the liver	ORPHAnet
0‑L	555437	Lymphoplasmacytic inflammatory pseudotumor of the liver	ORPHAnet
0‑L	555874	Congenital tricuspid valve dysplasia	ORPHAnet
0‑L	555877	FLNA-related X-linked myxomatous valvular dysplasia	ORPHAnet
0‑L	555905	IgA pemphigus	ORPHAnet
0‑L	556030	Early-onset familial hypoaldosteronism	ORPHAnet
0‑L	556037	Late-onset familial hypoaldosteronism	ORPHAnet
0‑L	556955	Pancreatic agenesis-holoprosencephaly syndrome	ORPHAnet
0‑L	556985	Early-onset calcifying leukoencephalopathy-skeletal dysplasia	ORPHAnet
0‑L	557003	Oculocerebrodental syndrome	ORPHAnet
0‑L	557056	Spastic ataxia-dysarthria due to glutaminase deficiency	ORPHAnet
0‑L	557064	Neonatal epileptic encephalopathy due to glutaminase deficiency	ORPHAnet
0‑L	558411	Idiopathic gastroparesis	ORPHAnet
0‑L	561854	FOXG1 syndrome	ORPHAnet
0‑L	562509	Heme oxygenase-1 deficiency	ORPHAnet
0‑L	562528	Congenital limbs-face contractures-hypotonia-developmental delay syndrome	ORPHAnet
0‑L	562538	Autosomal recessive extra-oral halitosis	ORPHAnet
0‑L	562559	Anterior maxillary protrusion-strabismus-intellectual disability syndrome	ORPHAnet
0‑L	562569	TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome	ORPHAnet
0‑L	562639	Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome	ORPHAnet
0‑L	563576	Autoimmune hepatitis type 1	ORPHAnet
0‑L	563581	Autoimmune hepatitis type 2	ORPHAnet
0‑L	563589	Seronegative autoimmune hepatitis	ORPHAnet
0‑L	563609	Isolated anencephaly	ORPHAnet
0‑L	563612	Isolated exencephaly	ORPHAnet
0‑L	563666	Serous cystadenoma of childhood	ORPHAnet
0‑L	563671	Mucinous cystadenoma of childhood	ORPHAnet
0‑L	563676	Seromucinous cystadenoma of childhood	ORPHAnet
0‑L	563684	Furuncular myiasis due to Dermatobia hominis	ORPHAnet
0‑L	563687	Furuncular myiasis due to Cordylobia anthropophaga	ORPHAnet
0‑L	563690	Furuncular myiasis due to Cordylobia rodhaini	ORPHAnet
0‑L	563708	Syndromic congenital sodium diarrhea	ORPHAnet
0‑L	563951	Isolated congenital aglossia	ORPHAnet
0‑L	563954	Isolated congenital hypoglossia	ORPHAnet
0‑L	563991	Osteochondrosis of the tarsal bone	ORPHAnet
0‑L	564003	Osteochondrosis of the metatarsal bone	ORPHAnet
0‑L	564178	Primary hypomagnesemia-refractory seizures-intellectual disability syndrome	ORPHAnet
0‑L	565612	Triglyceride deposit cardiomyovasculopathy	ORPHAnet
0‑L	565624	Combined oxidative phosphorylation defect type 39	ORPHAnet
0‑L	565641	Primary desmosis coli	ORPHAnet
0‑L	565782	Methotrexate toxicity	ORPHAnet
0‑L	565788	Infantile inflammatory bowel disease with neurological involvement	ORPHAnet
0‑L	565837	Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23	ORPHAnet
0‑L	565858	Craniosynostosis-microretrognathia-severe intellectual disability syndrome	ORPHAnet
0‑L	565899	POMGNT2-related limb-girdle muscular dystrophy R24	ORPHAnet
0‑L	565909	Calpain-3-related limb-girdle muscular dystrophy D4	ORPHAnet
0‑L	566067	CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome	ORPHAnet
0‑L	566175	Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome	ORPHAnet
0‑L	566192	Congenital autosomal recessive small-platelet thrombocytopenia	ORPHAnet
0‑L	566231	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor alpha	ORPHAnet
0‑L	566243	Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta	ORPHAnet
0‑L	566393	Acute mast cell leukemia	ORPHAnet
0‑L	566396	Chronic mast cell leukemia	ORPHAnet
0‑L	566841	Liver adenomatosis	ORPHAnet
0‑L	566847	Aprosencephaly/atelencephaly spectrum	ORPHAnet
0‑L	566852	Atelencephaly	ORPHAnet
0‑L	566857	Aprosencephaly	ORPHAnet
0‑L	566862	Left sided atrial isomerism	ORPHAnet
0‑L	566943	Mueller-Weiss syndrome	ORPHAnet
0‑L	567502	B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome	ORPHAnet
0‑L	567544	Idiopathic non-lupus full-house nephropathy	ORPHAnet
0‑L	567546	Idiopathic steroid-sensitive nephrotic syndrome with secondary steroid resistance	ORPHAnet
0‑L	567548	Idiopathic steroid-resistant nephrotic syndrome	ORPHAnet
0‑L	567550	Idiopathic multidrug-resistant nephrotic syndrome	ORPHAnet
0‑L	567552	Idiopathic steroid-resistant nephrotic syndrome with sensitivity to second-line immunosuppressive therapy	ORPHAnet
0‑L	567983	Parenteral nutrition-associated cholestasis	ORPHAnet
0‑L	568051	GJC2-related late-onset primary lymphedema	ORPHAnet
0‑L	568056	Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome	ORPHAnet
0‑L	568062	PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis	ORPHAnet
0‑L	568065	EPHB4-related lymphatic-related hydrops fetalis	ORPHAnet
0‑L	569164	Angiomatoid fibrous histiocytoma	ORPHAnet
0‑L	569248	Microcystic stromal tumor	ORPHAnet
0‑L	569274	Multiple mitochondrial dysfunctions syndrome type 5	ORPHAnet
0‑L	569290	Multiple mitochondrial dysfunctions syndrome type 6	ORPHAnet
0‑L	569816	CELSR1-related late-onset primary lymphedema	ORPHAnet
0‑L	569821	Congenital primary lymphedema of Gordon	ORPHAnet
0‑L	570371	Bartter syndrome type 5	ORPHAnet
0‑L	570422	Galactose mutarotase deficiency	ORPHAnet
0‑L	570431	Idiopathic multicentric Castleman disease	ORPHAnet
0‑L	570438	HHV-8-associated multicentric Castleman disease	ORPHAnet
0‑L	570470	Ricin poisoning	ORPHAnet
0‑L	570491	QRSL1-related combined oxidative phosphorylation defect	ORPHAnet
0‑L	570762	Infective endocarditis	ORPHAnet
0‑L	572013	Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome	ORPHAnet
0‑L	572333	Blepharophimosis-ptosis-epicanthus inversus syndrome plus	ORPHAnet
0‑L	572354	Blepharophimosis-ptosis-epicanthus inversus syndrome type 1	ORPHAnet
0‑L	572361	Blepharophimosis-ptosis-epicanthus inversus syndrome type 2	ORPHAnet
0‑L	572385	Brachydactyly type B1	ORPHAnet
0‑L	572428	Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia	ORPHAnet
0‑L	572543	RFVT2-related riboflavin transporter deficiency	ORPHAnet
0‑L	572550	RFVT3-related riboflavin transporter deficiency	ORPHAnet
0‑L	572761	DONSON-related microcephaly-short stature-limb abnormalities spectrum	ORPHAnet
0‑L	572768	Microcephaly-micromelia syndrome	ORPHAnet
0‑L	572773	Microcephaly-short stature-limb abnormalities syndrome	ORPHAnet
0‑L	572798	WARS2-related combined oxidative phosphorylation defect	ORPHAnet
0‑L	573253	Split cord malformation type II	ORPHAnet
0‑L	573278	Split cord malformation	ORPHAnet
0‑L	574918	Predisposition to severe viral infection due to IRF7 deficiency	ORPHAnet
0‑L	574957	Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency	ORPHAnet
0‑L	575553	Cathepsin A-related arteriopathy-strokes-leukoencephalopathy	ORPHAnet
0‑L	576074	Middle East respiratory syndrome	ORPHAnet
0‑L	576227	Complete atrioventricular septal defect without ventricular hypoplasia	ORPHAnet
0‑L	576232	Partial atrioventricular septal defect with ventricular hypoplasia	ORPHAnet
0‑L	576235	Partial atrioventricular septal defect without ventricular hypoplasia	ORPHAnet
0‑L	576242	Intermediate atrioventricular septal defect	ORPHAnet
0‑L	576278	SATB2-associated syndrome	ORPHAnet
0‑L	576283	SATB2-associated syndrome due to a pathogenic variant	ORPHAnet
0‑L	576349	NLRC4-related familial cold autoinflammatory syndrome	ORPHAnet
0‑L	576370	Variant Creutzfeldt-Jakob disease	ORPHAnet
0‑L	576379	Iatrogenic Creutzfeldt-Jakob disease	ORPHAnet
0‑L	580572	Intraductal tubulopapillary neoplasm of pancreas	ORPHAnet
0‑L	580933	Lethal brain and heart developmental defects	ORPHAnet
0‑L	580940	QRICH1-related intellectual disability-chondrodysplasia syndrome	ORPHAnet
0‑L	580951	Punctate inner choroidopathy	ORPHAnet
0‑L	581271	Cramp-fasciculation syndrome	ORPHAnet
0‑L	583097	Congenital infiltrating lipomatosis of the face	ORPHAnet
0‑L	583595	Serine biosynthesis pathway deficiency, infantile/juvenile form	ORPHAnet
0‑L	583602	Neu-laxova syndrome due to phosphoserine aminotransferase deficiency	ORPHAnet
0‑L	583607	Neu-laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency	ORPHAnet
0‑L	583612	Neu-laxova syndrome due to 3-phosphoserine phosphatase deficiency	ORPHAnet
0‑L	583856	Isolated splenic vein thrombosis	ORPHAnet
0‑L	583861	Isolated mesenteric vein thrombosis	ORPHAnet
0‑L	585867	Acute myeloid leukemia with t(9;22)(q34.1;q11.2)	ORPHAnet
0‑L	585877	B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality	ORPHAnet
0‑L	585909	B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)	ORPHAnet
0‑L	585918	B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)	ORPHAnet
0‑L	585929	B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)	ORPHAnet
0‑L	585936	B-lymphoblastic leukemia/lymphoma with hyperdiploidy	ORPHAnet
0‑L	585942	B-lymphoblastic leukemia/lymphoma with hypodiploidy	ORPHAnet
0‑L	585948	B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)	ORPHAnet
0‑L	585956	B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)	ORPHAnet
0‑L	586130	Sporadic fatal insomnia	ORPHAnet
0‑L	589435	Spondylometaphyseal dysplasia-corneal dystrophy syndrome	ORPHAnet
0‑L	589442	Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome	ORPHAnet
0‑L	589515	PUM1-associated developmental disability-ataxia-seizure syndrome	ORPHAnet
0‑L	589522	Spinocerebellar ataxia type 46	ORPHAnet
0‑L	589527	Spinocerebellar ataxia type 45	ORPHAnet
0‑L	589534	Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)	ORPHAnet
0‑L	589542	Myeloid/lymphoid neoplasm associated with JAK2 rearrangement	ORPHAnet
0‑L	589547	GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder	ORPHAnet
0‑L	589595	Mixed phenotype acute leukemia with t(v;11q23.3)	ORPHAnet
0‑L	589608	Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies	ORPHAnet
0‑L	589618	Dystonia 28	ORPHAnet
0‑L	589821	Congenital-onset Steinert myotonic dystrophy	ORPHAnet
0‑L	589824	Childhood-onset Steinert myotonic dystrophy	ORPHAnet
0‑L	589827	Juvenile-onset Steinert myotonic dystrophy	ORPHAnet
0‑L	589830	Adult-onset Steinert myotonic dystrophy	ORPHAnet
0‑L	589833	Late-onset Steinert myotonic dystrophy	ORPHAnet
0‑L	589856	Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome	ORPHAnet
0‑L	589905	PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome	ORPHAnet
0‑L	590539	Isolated melanotic schwannoma	ORPHAnet
0‑L	592564	GNAO1-related developmental delay-seizures-movement disorder spectrum	ORPHAnet
0‑L	592570	TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome	ORPHAnet
0‑L	592574	Menke-Hennekam syndrome	ORPHAnet
0‑L	592850	Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies	ORPHAnet
0‑L	592856	Neuromyelitis optica spectrum disorder with anti-MOG antibodies	ORPHAnet
0‑L	592869	Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies	ORPHAnet
0‑L	592873	Acute transverse myelitis with anti-MOG antibodies	ORPHAnet
0‑L	592885	Isolated optic neuritis without anti-MOG antibodies	ORPHAnet
0‑L	592888	Isolated optic neuritis with anti-MOG antibodies	ORPHAnet
0‑L	592894	Acute disseminated encephalomyelitis with anti-MOG antibodies	ORPHAnet
0‑L	592900	Acute disseminated encephalomyelitis without anti-MOG antibodies	ORPHAnet
0‑L	595098	Timothy syndrome type 1	ORPHAnet
0‑L	595105	Timothy syndrome type 2	ORPHAnet
0‑L	595109	Atypical Timothy syndrome	ORPHAnet
0‑L	595133	Perivascular epithelioid cell neoplasm	ORPHAnet
0‑L	595356	Localized dystrophic epidermolysis bullosa	ORPHAnet
0‑L	596008	Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis	ORPHAnet
0‑L	596448	IgG4-related systemic disease	ORPHAnet
0‑L	596753	VEXAS syndrome	ORPHAnet
0‑L	596759	Combined immunodeficiency due to RELA haploinsufficiency	ORPHAnet
0‑L	596937	Portosinusoidal vascular disease	ORPHAnet
0‑L	596941	Incomplete septal cirrhosis	ORPHAnet
0‑L	597201	TRIM22-related inflammatory bowel disease	ORPHAnet
0‑L	597623	IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome	ORPHAnet
0‑L	597733	Oculocutaneous albinism type 8	ORPHAnet
0‑L	597738	Luscan-Lumish syndrome	ORPHAnet
0‑L	597743	SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome	ORPHAnet
0‑L	597746	Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome	ORPHAnet
0‑L	597874	MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome	ORPHAnet
0‑L	597887	ALPI-related inflammatory bowel disease	ORPHAnet
0‑L	597939	Euthyroid dysprealbuminemic hyperthyroxinemia	ORPHAnet
0‑L	598164	FOXG1 syndrome due to intragenic alteration	ORPHAnet
0‑L	598216	Upper tract urothelial carcinoma	ORPHAnet
0‑L	598363	Multisystem inflammatory syndrome in children and adults	ORPHAnet
0‑L	598603	Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome	ORPHAnet
0‑L	599082	CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome	ORPHAnet
0‑L	599373	STXBP1-related encephalopathy	ORPHAnet
0‑L	599376	Hypomyelination of early myelinating structures	ORPHAnet
0‑L	599418	Hereditary angioedema with normal C1Inh not related to F12 or PLG variant	ORPHAnet
0‑L	599480	Acquired hemophilia A	ORPHAnet
0‑L	599485	Acquired hemophilia B	ORPHAnet
0‑L	599490	Acquired factor V deficiency	ORPHAnet
0‑L	599495	Acquired factor VII deficiency	ORPHAnet
0‑L	599501	Acquired factor X deficiency	ORPHAnet
0‑L	599507	Acquired factor XI deficiency	ORPHAnet
0‑L	599513	Acquired factor XIII deficiency	ORPHAnet
0‑L	599519	Factor V short isoforms-related bleeding disorder	ORPHAnet
0‑L	599579	Factor V Amsterdam bleeding disorder	ORPHAnet
0‑L	600194	Factor V Atlanta bleeding disorder	ORPHAnet
0‑L	600663	NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance	ORPHAnet
0‑L	600668	CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome	ORPHAnet
0‑L	600691	Combined deficiency of factor VII and factor X	ORPHAnet
0‑L	600731	Clark-Baraitser syndrome	ORPHAnet
0‑L	600952	Non-syndromic anorectal malformation with perineal fistula	ORPHAnet
0‑L	600961	Non-syndromic anorectal malformation with rectourethral fistula	ORPHAnet
0‑L	600966	Non-syndromic anorectal malformation with rectourethral fistula, bulbar type	ORPHAnet
0‑L	600975	Non-syndromic anorectal malformation with rectourethral fistula, prostatic type	ORPHAnet
0‑L	600984	Non-syndromic anorectal malformation with rectovesical fistula	ORPHAnet
0‑L	600993	Non-syndromic anorectal malformation with vestibular fistula	ORPHAnet
0‑L	600998	Non-syndromic cloacal malformation	ORPHAnet
0‑L	601002	Non-syndromic anorectal malformation without fistula	ORPHAnet
0‑L	601008	Non-syndromic anorectal malformation with anal stenosis	ORPHAnet
0‑L	601013	Non-syndromic anorectal malformation with pouch colon	ORPHAnet
0‑L	601018	Non-syndromic anorectal malformation with rectal atresia	ORPHAnet
0‑L	601023	Non-syndromic anorectal malformation with rectal stenosis	ORPHAnet
0‑L	601028	Non-syndromic anorectal malformation with rectovaginal fistula	ORPHAnet
0‑L	601033	Non-syndromic anorectal malformation with H-type fistula	ORPHAnet
0‑L	603448	Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome	ORPHAnet
0‑L	603494	Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome	ORPHAnet
0‑L	603515	Isolated female hypospadias	ORPHAnet
0‑L	603684	KLHL7-related Bohring-Opitz-like/Cold-induced sweating-like overlap syndrome	ORPHAnet
0‑L	603689	KLHL7-related Bohring-Opitz-like syndrome	ORPHAnet
0‑L	603694	KLHL7-related cold-induced sweating-like syndrome	ORPHAnet
0‑L	604680	Symptomatic form of X-linked centronuclear myopathy in female carriers	ORPHAnet
0‑L	610569	KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome	ORPHAnet
0‑L	610573	CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome	ORPHAnet
0‑L	611201	Oculogastrointestinal-neurodevelopmental syndrome	ORPHAnet
0‑L	611207	Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome	ORPHAnet
0‑L	611216	Aplastic anemia-intellectual disability-dwarfism syndrome	ORPHAnet
0‑L	611223	EN1-related dorsoventral syndrome	ORPHAnet
0‑L	611237	Parkinsonism with polyneuropathy	ORPHAnet
0‑L	611247	Pontocerebellar hypoplasia type 11	ORPHAnet
0‑L	611256	Pontocerebellar hypoplasia type 12	ORPHAnet
0‑L	613267	Pontocerebellar hypoplasia type 13	ORPHAnet
0‑L	613274	Pontocerebellar hypoplasia type 14	ORPHAnet
0‑L	615938	Spastic paraparesis-cataracts-speech delay syndrome	ORPHAnet
0‑L	615943	Granuloma faciale	ORPHAnet
0‑L	615954	Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome	ORPHAnet
0‑L	615964	Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate	ORPHAnet
0‑L	615970	Chronic intervillositis of unknown etiology	ORPHAnet
0‑L	615983	Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation	ORPHAnet
0‑L	615986	Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster	ORPHAnet
0‑L	616874	Rare disorder without a determined diagnosis after full investigation	ORPHAnet
0‑L	617294	Twin anemia-polycythemia sequence	ORPHAnet
0‑L	617297	Twin-reversed arterial perfusion sequence	ORPHAnet
0‑L	617301	Selective intrauterine growth restriction	ORPHAnet
0‑L	617304	Amniotic fluid embolism	ORPHAnet
0‑L	617408	Classic eosinophilic pustular folliculitis	ORPHAnet
0‑L	617440	Painful legs and moving toes syndrome	ORPHAnet
0‑L	617449	Congenital aphakia-iris hypoplasia-microphthalmia-microcornea syndrome	ORPHAnet
0‑L	617910	Conjunctival malignant melanoma	ORPHAnet
0‑L	617916	Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia	ORPHAnet
0‑L	617919	F12-associated cold autoinflammatory syndrome	ORPHAnet
0‑L	617930	Hemophilia B Leyden	ORPHAnet
0‑L	618891	Chronic neurovisceral acid sphingomyelinase deficiency	ORPHAnet
0‑L	619233	Hereditary persistence of fetal hemoglobin-intellectual disability syndrome	ORPHAnet
0‑L	619363	Neonatal-onset severe multisystemic autoinflammatory disease with increased IL18	ORPHAnet
0‑L	619367	SAMD9L-associated autoinflammatory syndrome	ORPHAnet
0‑L	619941	Immune deficiency due to impaired neutrophil phagocytosis and migration	ORPHAnet
0‑L	619948	Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome	ORPHAnet
0‑L	619953	Familial hyperinflammatory lymphoproliferative immunodeficiency	ORPHAnet
0‑L	619972	CADINS disease	ORPHAnet
0‑L	619979	Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome	ORPHAnet
0‑L	620102	Non-syndromic unicoronal craniosynostosis	ORPHAnet
0‑L	620113	Non-syndromic unilambdoid craniosynostosis	ORPHAnet
0‑L	620139	Non-syndromic unifrontosphenoidal craniosynostosis	ORPHAnet
0‑L	620146	Non-syndromic unisquamosal craniosynostosis	ORPHAnet
0‑L	620158	Non-syndromic non-specific multisutural craniosynostosis	ORPHAnet
0‑L	620178	Non-syndromic bilambdoid craniosynostosis	ORPHAnet
0‑L	620186	Non-syndromic unicoronal and sagittal craniosynostosis	ORPHAnet
0‑L	620192	Non-syndromic metopic and sagittal craniosynostosis	ORPHAnet
0‑L	620198	Non-syndromic bicoronal and metopic craniosynostosis	ORPHAnet
0‑L	620205	Non-syndromic bicoronal and sagittal craniosynostosis	ORPHAnet
0‑L	620212	Non-syndromic pansynostosis	ORPHAnet
0‑L	620217	Bartter syndrome type 1	ORPHAnet
0‑L	620220	Bartter syndrome type 2	ORPHAnet
0‑L	620363	Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome	ORPHAnet
0‑L	620368	EGF-related primary hypomagnesemia with intellectual disability	ORPHAnet
0‑L	620371	Gitelman-like kidney tubulopathy due to mitochondrial DNA mutation	ORPHAnet
0‑L	621758	Fibrosis-neurodegeneration-cerebral angiomatosis syndrome	ORPHAnet
0‑L	622099	Superior mesenteric artery syndrome	ORPHAnet
0‑L	622925	X-linked severe syndromic thoracic aortic aneurysm and dissection	ORPHAnet
0‑L	622934	SBDS-related severe neonatal spondylometaphyseal dysplasia	ORPHAnet
0‑L	623615	Autoimmune limbic encephalitis	ORPHAnet
0‑L	623626	Paraneoplastic cerebellar degeneration	ORPHAnet
0‑L	623695	MIR140-related spondyloepiphyseal dysplasia	ORPHAnet
0‑L	623789	Body integrity dysphoria	ORPHAnet
0‑L	623801	Acute flaccid myelitis	ORPHAnet
0‑L	624166	Non-specific autoimmune supratentorial encephalitis with characteristic antibodies	ORPHAnet
0‑L	624178	Non-specific autoimmune supratentorial encephalitis without characteristic antibodies	ORPHAnet
0‑L	624190	Paraneoplastic isolated brainstem encephalitis	ORPHAnet
0‑L	624199	Non-specific autoimmune brainstem encephalitis with characteristic antibodies	ORPHAnet
0‑L	624216	Non-specific autoimmune brainstem encephalitis without characteristic antibodies	ORPHAnet
0‑L	624244	Postinfectious cerebellitis	ORPHAnet
0‑L	624259	Non-specific autoimmune cerebellar ataxia with characteristic antibodies	ORPHAnet
0‑L	624268	Non-specific autoimmune cerebellar ataxia without characteristic antibodies	ORPHAnet
This value set has 7241 codes in it. In order to keep the publication size manageable, only a selection (500 codes) of the whole set of codes is shown.

Legenda: Type L=leaf, S=specializable, A=abstract, D=deprecated. NullFlavor OTH (other) suggests text in originalText. HL7 V3: NullFlavors to appear in @nullFlavor attribute instead of @code.

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