Level/ Type | Code | Display Name | Code System |
---|
0‑L | 10 | 48,XXYY syndrome | ORPHAnet |
0‑L | 100 | Ataxia-telangiectasia | ORPHAnet |
0‑L | 1000 | Ocular albinism with late-onset sensorineural deafness | 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 | 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 | 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 | 101 | Dentatorubral pallidoluysian atrophy | ORPHAnet |
0‑L | 1010 | Autosomal dominant palmoplantar keratoderma and congenital alopecia | 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 | 1014 | Alopecia-intellectual disability-hypergonadotropic hypogonadism syndrome | ORPHAnet |
0‑L | 101685 | Rare non-syndromic intellectual disability | ORPHAnet |
0‑L | 1018 | X-linked Alport syndrome-diffuse leiomyomatosis | ORPHAnet |
0‑L | 101932 | Anomaly of the mitral subvalvular apparatus | ORPHAnet |
0‑L | 102 | Multiple system atrophy | 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 | 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 | 1027 | Autosomal recessive amelia | ORPHAnet |
0‑L | 102724 | Acute myeloid leukemia with t(8;21)(q22;q22) translocation | 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 | 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 | 104 | Leber hereditary optic neuropathy | ORPHAnet |
0‑L | 1040 | Metaphyseal anadysplasia | 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 | 1041 | Hydrops fetalis | ORPHAnet |
0‑L | 1046 | Lethal hemolytic anemia-genital anomalies syndrome | ORPHAnet |
0‑L | 1048 | Isolated anencephaly/exencephaly | ORPHAnet |
0‑L | 105 | Atresia of urethra | 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 | 107 | BOR 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 | 108 | Babesiosis | ORPHAnet |
0‑L | 1083 | Microlissencephaly | ORPHAnet |
0‑L | 1084 | Isolated lissencephaly type 1 without known genetic defects | ORPHAnet |
0‑L | 109 | Bannayan-Riley-Ruvalcaba syndrome | ORPHAnet |
0‑L | 1094 | Anonychia-microcephaly syndrome | ORPHAnet |
0‑L | 11 | Pentasomy X | ORPHAnet |
0‑L | 110 | Bardet-Biedl 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 | 111 | Barth syndrome | 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 | 112 | Bartter 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 | 113 | Bazex-Dupré-Christol 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 | 114 | Auriculoosteodysplasia | 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 | 115 | Congenital contractural arachnodactyly | 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 | 116 | Beckwith-Wiedemann syndrome | 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 | 117 | Behçet disease | 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 | 118 | Beta-mannosidosis | 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 | 119 | Beta-sarcoglycan-related limb-girdle muscular dystrophy R4 | 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 | Small bowel atresia | 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 | 122 | Birt-Hogg-Dubé 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 | 123 | Björnstad 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 | 124 | Diamond-Blackfan anemia | 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 | 125 | Bloom syndrome | 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 | 126 | Blepharophimosis-ptosis-epicanthus inversus 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 | 127 | Borjeson-Forssman-Lehmann syndrome | 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 | 128 | Diphyllobothriasis | ORPHAnet |
0‑L | 129 | Pseudopelade of Brocq | 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 | 13 | 6-pyruvoyl-tetrahydropterin synthase deficiency | ORPHAnet |
0‑L | 130 | Brugada 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 | 1307 | Distal limb deficiencies-micrognathia syndrome | ORPHAnet |
0‑L | 1308 | C syndrome | ORPHAnet |
0‑L | 1309 | Medullary sponge kidney | ORPHAnet |
0‑L | 131 | Budd-Chiari syndrome | 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 | 132 | Butyrylcholinesterase deficiency | 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 | 133 | Chronic beryllium disease | 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 | 134 | Beta-ketothiolase deficiency | 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 | 135 | CACH syndrome | 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 | 136 | Cerebral autosomal dominant arteriopathy-subcortical infarcts-leukoencephalopathy | 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 | 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 | 1377 | Cataract-microcornea syndrome | 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 | 137908 | Hypotonia with lactic acidemia and hyperammonemia | 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 | 138 | CHARGE 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 | 139 | CHILD syndrome | ORPHAnet |
0‑L | 1390 | Night blindness-skeletal anomalies-dysmorphism syndrome | ORPHAnet |
0‑L | 1393 | Cerebrocostomandibular syndrome | ORPHAnet |
0‑L | 139396 | X-linked cerebral adrenoleukodystrophy | ORPHAnet |
0‑L | 139399 | Adrenomyeloneuropathy | ORPHAnet |
0‑L | 1394 | Cerebrofaciothoracic dysplasia | 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 | 139507 | Dietary iron overload disease | 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 | 1397 | Hydrocephaly-cerebellar agenesis syndrome | ORPHAnet |
0‑L | 1398 | Isolated cerebellar agenesis | ORPHAnet |
0‑L | 1399 | Richards-Rundle syndrome | ORPHAnet |
0‑L | 14 | Abetalipoproteinemia | ORPHAnet |
0‑L | 140 | Campomelic dysplasia | ORPHAnet |
0‑L | 1401 | CHAND syndrome | 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 | 1406 | Charlie M syndrome | 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 | 141 | Canavan disease | ORPHAnet |
0‑L | 1410 | Uncombable hair syndrome | 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 | 1412 | Tarsal-carpal coalition syndrome | 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 | 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 | 142 | Anaplastic thyroid carcinoma | ORPHAnet |
0‑L | 1422 | Chondrodysplasia-difference 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 | 143 | Parathyroid carcinoma | 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 | 144 | Lynch 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 | 145 | Hereditary breast and/or ovarian cancer 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 | 146 | Differentiated thyroid carcinoma | 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 | 147 | Carbamoyl-phosphate synthetase 1 deficiency | 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 | 15 | Achondroplasia | ORPHAnet |
0‑L | 150 | Nasopharyngeal carcinoma | 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 | 154 | Familial isolated dilated cardiomyopathy | 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 | 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 | 156 | Carnitine palmitoyl transferase 1A deficiency | 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 | 156728 | Spondyloepimetaphyseal dysplasia, matrilin-3 type | ORPHAnet |
0‑L | 156731 | Dyssegmental dysplasia, Rolland-Desbuquois type | ORPHAnet |
0‑L | 1568 | X-linked intellectual disability-Dandy-Walker malformation-basal ganglia disease-seizures syndrome | ORPHAnet |
0‑L | 157 | Carnitine palmitoyltransferase II deficiency | 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 | 157215 | Hereditary hypophosphatemic rickets with hypercalciuria | ORPHAnet |
0‑L | 1573 | Hypotrichosis with juvenile macular degeneration | ORPHAnet |
0‑L | 1574 | Retinal degeneration-nanophthalmos-glaucoma syndrome | 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 | 1578 | Pterin-4 alpha-carbinolamine dehydratase deficiency | 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 | 158 | Systemic primary carnitine deficiency | ORPHAnet |
0‑L | 1580 | Distal deletion 10p | 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 | 1581 | Non-distal deletion 10q | 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 | 1587 | Monosomy 13q14 | 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 | 159 | Carnitine-acylcarnitine translocase deficiency | ORPHAnet |
0‑L | 1590 | Distal deletion 13q | ORPHAnet |
0‑L | 1596 | Distal deletion 15q | ORPHAnet |
0‑L | 1597 | Distal deletion 17q | ORPHAnet |
0‑L | 1598 | Monosomy 18p | ORPHAnet |
0‑L | 16 | Blue cone monochromatism | ORPHAnet |
0‑L | 160 | Castleman disease | ORPHAnet |
0‑L | 1600 | Monosomy 18q | ORPHAnet |
0‑L | 160148 | Cap polyposis | ORPHAnet |
0‑L | 1606 | 1p36 deletion syndrome | ORPHAnet |
0‑L | 1617 | 2q24 microdeletion syndrome | ORPHAnet |
0‑L | 162 | Cataract-glaucoma syndrome | ORPHAnet |
0‑L | 1620 | Distal deletion 3p | ORPHAnet |
0‑L | 1621 | 3q13 microdeletion syndrome | ORPHAnet |
0‑L | 162516 | Isolated congenital nasal pyriform aperture stenosis | ORPHAnet |
0‑L | 162526 | Isolated congenital auditory ossicle malformation | ORPHAnet |
0‑L | 1627 | Deletion 5q35 | ORPHAnet |
0‑L | 163 | Hereditary hyperferritinemia-cataract syndrome | ORPHAnet |
0‑L | 163525 | Subacute cutaneous lupus erythematosus | ORPHAnet |
0‑L | 163596 | Hb Bart's hydrops fetalis | ORPHAnet |
0‑L | 1636 | Distal monosomy 7q36 | 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 | 1642 | Distal deletion 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 | 164726 | Acute myeloid leukemia and myelodysplastic syndromes related to radiation | ORPHAnet |
0‑L | 164736 | Familial advanced sleep-phase 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 | 165805 | Familial mesial temporal lobe epilepsy with febrile seizures | ORPHAnet |
0‑L | 1659 | Dermatoleukodystrophy | ORPHAnet |
0‑L | 165955 | Wound myiasis | ORPHAnet |
0‑L | 165958 | Cavitary myiasis | ORPHAnet |
0‑L | 165991 | Exercise-induced hyperinsulinism | ORPHAnet |
0‑L | 1660 | Dermoodontodysplasia | 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 | 1661 | X-linked corneal dermoid | 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 | 1662 | Restrictive dermopathy | 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 | 1665 | Sporadic fetal brain disruption sequence | ORPHAnet |
0‑L | 1666 | Dextrocardia | ORPHAnet |
0‑L | 1667 | Wolcott-Rallison syndrome | ORPHAnet |
0‑L | 167 | Chédiak-Higashi 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 | 167635 | Scleromyxedema | ORPHAnet |
0‑L | 1677 | Familial idiopathic dilatation of the right atrium | ORPHAnet |
0‑L | 1679 | Diphtheria | ORPHAnet |
0‑L | 168 | Loose anagen syndrome | ORPHAnet |
0‑L | 1681 | Diprosopus | ORPHAnet |
0‑L | 1682 | Arterial dissection-lentiginosis syndrome | 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 | 1685 | Distomatosis | 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 difference 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 | Methionine adenosyltransferase I/III deficiency | ORPHAnet |
0‑L | 1686 | Cardiac diverticulum | 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 | 169 | Ringed hair disease | 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 | 1692 | Mosaic trisomy 1 | ORPHAnet |
0‑L | 169464 | Primary CD59 deficiency | ORPHAnet |
0‑L | 169467 | Recurrent Neisseria infections due to factor D deficiency | ORPHAnet |
0‑L | 1695 | Non-distal duplication 10q | ORPHAnet |
0‑L | 169793 | Severe hemophilia B | ORPHAnet |
0‑L | 169796 | Moderate hemophilia B | ORPHAnet |
0‑L | 169799 | Mild hemophilia B | ORPHAnet |
0‑L | 1698 | Mosaic trisomy 12 | ORPHAnet |
0‑L | 169802 | Severe hemophilia A | ORPHAnet |
0‑L | 169805 | Moderate hemophilia A | ORPHAnet |
0‑L | 169808 | Mild hemophilia A | ORPHAnet |
0‑L | 1699 | Trisomy 12p | ORPHAnet |
0‑L | 17 | Fatal infantile lactic acidosis with methylmalonic aciduria | ORPHAnet |
0‑L | 170 | Woolly hair | ORPHAnet |
0‑L | 1702 | Non-distal duplication 13q | ORPHAnet |
0‑L | 1703 | Mosaic trisomy 14 | ORPHAnet |
0‑L | 1705 | Distal duplication 14q | ORPHAnet |
0‑L | 1706 | Mosaic trisomy 15 | ORPHAnet |
0‑L | 1707 | Distal duplication 15q | ORPHAnet |
0‑L | 1708 | Mosaic trisomy 16 | ORPHAnet |
0‑L | 171 | Primary sclerosing cholangitis | ORPHAnet |
0‑L | 1711 | Mosaic trisomy 17 | ORPHAnet |
0‑L | 171220 | Rectal duplication | ORPHAnet |
0‑L | 1713 | 17p11.2 microduplication syndrome | 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 | 1715 | Trisomy 18p | ORPHAnet |
0‑L | 1716 | Distal duplication 18q | 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 | 1717 | Distal duplication 19q | 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 | 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 | 172 | Progressive familial intrahepatic cholestasis | 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 | 173 | Cholera | ORPHAnet |
0‑L | 1738 | Trisomy 4p | ORPHAnet |
0‑L | 174 | Metaphyseal chondrodysplasia, Schmid type | ORPHAnet |
0‑L | 1742 | Trisomy 5p | ORPHAnet |
0‑L | 1745 | Distal duplication 6p | ORPHAnet |
0‑L | 1747 | Mosaic trisomy 7 | ORPHAnet |
0‑L | 175 | Cartilage-hair hypoplasia | 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 | 177 | Rhizomelic chondrodysplasia punctata | 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 | 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 | 178 | Chordoma | ORPHAnet |
0‑L | 1780 | Thakker-Donnai syndrome | 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 | 1782 | Dysosteosclerosis | 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 | 1784 | Acrofrontofacionasal dysostosis | 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 | 1786 | Acrofacial dysostosis, Catania type | ORPHAnet |
0‑L | 1787 | Acrofacial dysostosis, Palagonia type | ORPHAnet |
0‑L | 1788 | Acrofacial dysostosis, Rodríguez type | ORPHAnet |
0‑L | 179 | Birdshot chorioretinopathy | ORPHAnet |
0‑L | 1790 | Hypomandibular faciocranial dysostosis | ORPHAnet |
0‑L | 1791 | Frontofacionasal dysplasia | ORPHAnet |
0‑L | 1794 | Oculomaxillofacial dysostosis | ORPHAnet |
0‑L | 179490 | Obesity due to congenital leptin resistance | ORPHAnet |
0‑L | 179494 | Obesity due to leptin receptor gene deficiency | 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 | 18 | Distal renal tubular acidosis | ORPHAnet |
0‑L | 180 | Choroideremia | ORPHAnet |
0‑L | 180074 | True unicornuate uterus | ORPHAnet |
0‑L | 180079 | Pseudounicornuate uterus | ORPHAnet |
0‑L | 180086 | Didelphys uterus | ORPHAnet |
0‑L | 1801 | Kyphomelic dysplasia | 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 | 1802 | Ghosal hematodiaphyseal dysplasia | 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 | 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 | 181 | X-linked hypohidrotic ectodermal dysplasia | 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 | 182 | Chromomycosis | ORPHAnet |
0‑L | 182050 | MYH9-related disease | ORPHAnet |
0‑L | 182127 | Extragonadal germinoma | 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 | 183 | Eosinophilic granulomatosis with polyangiitis | 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 | 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 | 1837 | Ulna metaphyseal dysplasia syndrome | ORPHAnet |
0‑L | 183707 | Neutrophil immunodeficiency syndrome | ORPHAnet |
0‑L | 183713 | Bacterial susceptibility due to TLR signaling pathway deficiency | ORPHAnet |
0‑L | 1839 | Hereditary mucoepithelial dysplasia | ORPHAnet |
0‑L | 184 | Cherubism | ORPHAnet |
0‑L | 1842 | Bone dysplasia, lethal Holmgren type | ORPHAnet |
0‑L | 1848 | Renal agenesis, bilateral | ORPHAnet |
0‑L | 185 | Scimitar syndrome | 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 | 186 | Primary biliary cholangitis | 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 | 188 | Systemic capillary leak syndrome | 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 | 189 | Hidrotic ectodermal dysplasia | ORPHAnet |
0‑L | 1891 | Intellectual disability-spasticity-ectrodactyly syndrome | ORPHAnet |
0‑L | 1892 | Ectrodactyly-polydactyly syndrome | ORPHAnet |
0‑L | 189427 | Cushing syndrome due to bilateral macronodular adrenocortical disease | ORPHAnet |
0‑L | 189466 | Familial isolated hypoparathyroidism due to impaired PTH secretion | 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 | 190 | Coats disease | 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 | 191 | Cockayne syndrome | 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 | 192 | Coffin-Lowry syndrome | 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 | 193 | Cohen syndrome | 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 | 195 | Cat-eye syndrome | 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 | 198 | Occipital horn syndrome | 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 | 199 | Cornelia de Lange syndrome | 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 | 1993 | Pai syndrome | 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 | 1995 | Cleft lip-retinopathy syndrome | 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 | 1997 | Blepharo-cheilo-odontic syndrome | ORPHAnet |
0‑L | 20 | 3-hydroxy-3-methylglutaric aciduria | ORPHAnet |
0‑L | 200 | Isolated corpus callosum agenesis | 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 | 200418 | Immunodeficiency with factor I anomaly | ORPHAnet |
0‑L | 200421 | Immunodeficiency with factor H anomaly | ORPHAnet |
0‑L | 2006 | Median cleft lip/mandible | ORPHAnet |
0‑L | 2007 | Alar cartilages hypoplasia-coloboma-telecanthus syndrome | ORPHAnet |
0‑L | 2008 | Acrocardiofacial syndrome | ORPHAnet |
0‑L | 201 | Cowden 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 | 202 | Crandall syndrome | 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 | 204 | Sporadic Creutzfeldt-Jakob disease | 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 | 205 | Crigler-Najjar 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 | 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 | 206484 | Gonadoblastoma | ORPHAnet |
0‑L | 206489 | Malignant germ cell tumor of the vagina | ORPHAnet |
0‑L | 206492 | Vulvovaginal rhabdomyosarcoma | ORPHAnet |
0‑L | 2065 | Galloway-Mowat syndrome | 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 | 2066 | Gamma-aminobutyric acid transaminase deficiency | ORPHAnet |
0‑L | 2067 | GAPO syndrome | ORPHAnet |
0‑L | 2069 | Gastrocutaneous syndrome | ORPHAnet |
0‑L | 206991 | Viral myositis | ORPHAnet |
0‑L | 206994 | Bacterial myositis | ORPHAnet |
0‑L | 207 | Crouzon syndrome | ORPHAnet |
0‑L | 2070 | Eosinophilic gastroenteritis | ORPHAnet |
0‑L | 207000 | Fungal myositis | 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 | 208441 | Bilateral parasagittal parieto-occipital polymicrogyria | ORPHAnet |
0‑L | 208444 | Bilateral frontal polymicrogyria | ORPHAnet |
0‑L | 208447 | Bilateral generalized polymicrogyria | ORPHAnet |
0‑L | 2085 | Glaucoma-sleep apnea syndrome | ORPHAnet |
0‑L | 208513 | Spinocerebellar ataxia type 29 | ORPHAnet |
0‑L | 208524 | Herpetiform pemphigus | 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 | 208989 | Non-paraneoplastic sensory ganglionopathy | ORPHAnet |
0‑L | 208999 | Paraneoplastic sensory ganglionopathy | ORPHAnet |
0‑L | 2090 | GMS syndrome | ORPHAnet |
0‑L | 209004 | Axonal polyneuropathy associated with IgG/IgM/IgA monoclonal gammopathy | ORPHAnet |
0‑L | 2091 | Multinodular goiter-cystic kidney-polydactyly syndrome | ORPHAnet |
0‑L | 2092 | Focal dermal hypoplasia | 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 | 2095 | Gorlin-Chaudhry-Moss syndrome | ORPHAnet |
0‑L | 2097 | Grant syndrome | ORPHAnet |
0‑L | 2098 | Acromesomelic dysplasia, Grebe type | 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 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 | 210 | Cyclosporiasis | ORPHAnet |
0‑L | 2101 | Grubben-de Cock-Borghgraef syndrome | 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 | 2102 | GTP cyclohydrolase I deficiency | ORPHAnet |
0‑L | 210272 | Mal de débarquement | ORPHAnet |
0‑L | 2104 | Dysmorphism-pectus carinatum-joint laxity syndrome | 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 | 2107 | Hall-Riggs syndrome | ORPHAnet |
0‑L | 2108 | Hallermann-Streiff syndrome | ORPHAnet |
0‑L | 2109 | Hallermann-Streiff-like syndrome | ORPHAnet |
0‑L | 211 | Familial cylindromatosis | ORPHAnet |
0‑L | 2110 | Hallux varus-preaxial polysyndactyly syndrome | ORPHAnet |
0‑L | 211017 | Spinocerebellar ataxia type 30 | ORPHAnet |
0‑L | 211067 | Episodic ataxia type 5 | 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 | 212 | Cystathioninuria | ORPHAnet |
0‑L | 2122 | Kaposiform hemangioendothelioma | ORPHAnet |
0‑L | 2123 | Diffuse neonatal hemangiomatosis | ORPHAnet |
0‑L | 2126 | Solitary fibrous tumor | ORPHAnet |
0‑L | 2128 | Isolated hemihyperplasia | ORPHAnet |
0‑L | 213 | Cystinosis | 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 | 213504 | Adenocarcinoma of ovary | ORPHAnet |
0‑L | 213512 | Malignant mixed Müllerian tumor of the ovary | 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 | 2136 | Hennekam syndrome | 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 | 2137 | Autoimmune hepatitis | 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 | 2138 | 46,XX ovotesticular difference of sex development | 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 | 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 | 2139 | Hernández-Aguirre Negrete syndrome | ORPHAnet |
0‑L | 214 | Cystinuria | 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 | 215 | Congenital stationary night blindness | 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 | 216694 | Congenitally corrected transposition of the great arteries | ORPHAnet |
0‑L | 2167 | Holzgreve syndrome | 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 | 2169 | Methylcobalamin deficiency type cblE | 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 | 217 | Isolated Dandy-Walker malformation | ORPHAnet |
0‑L | 2170 | Methylcobalamin deficiency type cblG | 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 | 2172 | Microcephaly-glomerulonephritis-marfanoid habitus syndrome | 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 cutaneous sensory 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 | 2176 | Infantile systemic hyalinosis | ORPHAnet |
0‑L | 217622 | Sensorineural deafness with dilated cardiomyopathy | ORPHAnet |
0‑L | 217656 | Familial isolated arrhythmogenic right ventricular dysplasia | ORPHAnet |
0‑L | 2177 | Hydranencephaly | ORPHAnet |
0‑L | 218 | Darier disease | 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 | 219 | Delta-sarcoglycan-related limb-girdle muscular dystrophy R6 | 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 | 22 | Succinic semialdehyde dehydrogenase deficiency | ORPHAnet |
0‑L | 220 | Denys-Drash syndrome | 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 | 220295 | Xeroderma pigmentosum-Cockayne syndrome complex | ORPHAnet |
0‑L | 2203 | Hyperlysinemia | ORPHAnet |
0‑L | 220386 | Semilobar holoprosencephaly | ORPHAnet |
0‑L | 220393 | Diffuse cutaneous systemic sclerosis | ORPHAnet |
0‑L | 2204 | Dysplastic cortical hyperostosis, Kozlowski-Tsuruta type | 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 | 2206 | Ankylosing vertebral hyperostosis with tylosis | ORPHAnet |
0‑L | 2209 | Maternal phenylketonuria | ORPHAnet |
0‑L | 221 | Dermatomyositis | 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 | 2211 | Hypertelorism-hypospadias-polysyndactyly syndrome | ORPHAnet |
0‑L | 221117 | Gerstmann syndrome | ORPHAnet |
0‑L | 221120 | Pseudoaminopterin syndrome | ORPHAnet |
0‑L | 221126 | Fowler vasculopathy | ORPHAnet |
0‑L | 221139 | Combined immunodeficiency with facio-oculo-skeletal 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 | 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 | 222 | Erosive pustular dermatosis of the scalp | 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 | 223 | Nephrogenic diabetes insipidus | 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 | 225 | Maternally-inherited diabetes and deafness | 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 | 225123 | TFR2-related hemochromatosis | ORPHAnet |
0‑L | 225147 | Sporadic infantile bilateral striatal necrosis | ORPHAnet |
0‑L | 225154 | Familial infantile bilateral striatal necrosis | 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 | 226 | Dihydropteridine reductase deficiency | ORPHAnet |
0‑L | 2260 | Oligomeganephronia | ORPHAnet |
0‑L | 2261 | Hypospadias-intellectual disability, Goldblatt type syndrome | 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 | 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 | 227 | Diphallia | 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 | 227510 | Multiple system atrophy, cerebellar type | ORPHAnet |
0‑L | 227535 | Hereditary breast cancer | ORPHAnet |
0‑L | 227796 | Fundus albipunctatus | ORPHAnet |
0‑L | 2278 | Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome | 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 | 2282 | Dysmorphism-short stature-deafness-difference of sex development 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 | 2285 | Primary basilar invagination | ORPHAnet |
0‑L | 2287 | Fused mandibular incisors | ORPHAnet |
0‑L | 2289 | Neuronal intranuclear inclusion disease | ORPHAnet |
0‑L | 229 | Familial aortic dissection | ORPHAnet |
0‑L | 2290 | Microvillus inclusion disease | ORPHAnet |
0‑L | 2291 | Congenital velopharyngeal incompetence | ORPHAnet |
0‑L | 2295 | Familial articular hypermobility syndrome | ORPHAnet |
0‑L | 2297 | Insulin-resistance syndrome type A | ORPHAnet |
0‑L | 229717 | Isolated agammaglobulinemia | ORPHAnet |
0‑L | 2298 | Insulin-resistance syndrome type B | ORPHAnet |
0‑L | 2299 | Aortic arch interruption | ORPHAnet |
0‑L | 23 | Argininosuccinic aciduria | ORPHAnet |
0‑L | 230 | Dopamine beta-hydroxylase deficiency | 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 | 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 | 2309 | Pachyonychia congenita | ORPHAnet |
0‑L | 231 | Dracunculiasis | ORPHAnet |
0‑L | 2310 | Absence deformity of leg-cataract 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 | 2311 | Autosomal recessive spondylocostal dysostosis | ORPHAnet |
0‑L | 231108 | Rhabdoid tumor predisposition syndrome | 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 | 2312 | Transient familial neonatal hyperbilirubinemia | 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 | 2314 | Autosomal dominant hyper-IgE 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 | 2315 | Johanson-Blizzard syndrome | 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 | 2316 | Johnson neuroectodermal syndrome | 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 | 2318 | Joubert syndrome with oculorenal defect | ORPHAnet |
0‑L | 2319 | Juberg-Hayward syndrome | ORPHAnet |
0‑L | 232 | Sickle cell anemia | 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 | 233 | Duane retraction 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 | 234 | Dubin-Johnson 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 | 235 | Dubowitz 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 | 236 | Trisomy 9p | 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 | 237 | Duplication of urethra | 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 | 238 | Digestive duplication | ORPHAnet |
0‑L | 2380 | Legg-Calvé-Perthes disease | ORPHAnet |
0‑L | 2382 | Lennox-Gastaut 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 | 2386 | Leukoencephalopathy-palmoplantar keratoderma syndrome | 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 | 2387 | Leukonychia totalis | 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 | 238763 | Glaucoma secondary to spherophakia/ectopia lentis and megalocornea | ORPHAnet |
0‑L | 238769 | 1q44 microdeletion syndrome | ORPHAnet |
0‑L | 2388 | Choreoacanthocytosis | ORPHAnet |
0‑L | 239 | Dyggve-Melchior-Clausen disease | 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 | 24 | Fumaric aciduria | ORPHAnet |
0‑L | 240 | Léri-Weill dyschondrosteosis | ORPHAnet |
0‑L | 2400 | Peripheral motor neuropathy-dysautonomia 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 | 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 | 240760 | Nijmegen breakage syndrome-like disorder | ORPHAnet |
0‑L | 2408 | Lowe-Kohn-Cohen syndrome | ORPHAnet |
0‑L | 2409 | Lowry-MacLean syndrome | ORPHAnet |
0‑L | 241 | Dyschromatosis universalis hereditaria | 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 | 242 | 46,XY complete gonadal dysgenesis | 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 | 243 | 46,XX gonadal dysgenesis | ORPHAnet |
0‑L | 2430 | Congenital macroglossia | ORPHAnet |
0‑L | 2432 | Macrosomia-microphthalmia-cleft palate syndrome | ORPHAnet |
0‑L | 243343 | Dimethylglycine dehydrogenase deficiency | ORPHAnet |
0‑L | 243367 | Acute fatty liver of pregnancy | 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 | 244 | Primary ciliary dyskinesia | ORPHAnet |
0‑L | 2440 | Isolated split hand-split foot malformation | 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 | 2444 | Congenital pulmonary airway malformation | ORPHAnet |
0‑L | 245 | Nager syndrome | 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 | 246 | Postaxial acrofacial dysostosis | 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 | 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 | 2473 | McKusick-Kaufman syndrome | ORPHAnet |
0‑L | 247353 | Generalized pustular psoriasis | ORPHAnet |
0‑L | 247378 | Autosomal recessive secondary polycythemia not associated with VHL gene | ORPHAnet |
0‑L | 2475 | White forelock with malformations | 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 | Late-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 | 2476 | Dysraphism-cleft lip/palate-limb reduction defects syndrome | 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 | 2477 | Megalencephaly | 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 | 2478 | Megalencephalic leukoencephalopathy with subcortical cysts | 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-pili torti-cutaneous syndactyly syndrome | ORPHAnet |
0‑L | 247827 | Ectodermal dysplasia-hyperhidrosis-cutaneous syndactyly syndrome | ORPHAnet |
0‑L | 247834 | Occult macular dystrophy | ORPHAnet |
0‑L | 247868 | NLRP12-associated hereditary periodic fever syndrome | ORPHAnet |
0‑L | 2479 | Megalocornea-intellectual disability syndrome | ORPHAnet |
0‑L | 248 | Autosomal recessive hypohidrotic ectodermal dysplasia | ORPHAnet |
0‑L | 2481 | Neurocutaneous melanocytosis | ORPHAnet |
0‑L | 248111 | Juvenile Huntington disease | ORPHAnet |
0‑L | 2482 | Melhem-Fahl syndrome | ORPHAnet |
0‑L | 2483 | Melkersson-Rosenthal syndrome | ORPHAnet |
0‑L | 248340 | Isolated delta-storage pool disease | ORPHAnet |
0‑L | 2484 | Melnick-Needles syndrome | ORPHAnet |
0‑L | 248408 | Familial hypodysfibrinogenemia | 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 | 249 | Fibrous dysplasia of bone | 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 | 25 | Glutaryl-CoA dehydrogenase deficiency | 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 | 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 | 2510 | Micro 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 | 2511 | Microbrachycephaly-ptosis-cleft lip syndrome | ORPHAnet |
0‑L | 2512 | Autosomal recessive primary microcephaly | 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 | 2513 | Microcephaly-albinism-digital anomalies syndrome | 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 | 2514 | Autosomal dominant primary microcephaly | ORPHAnet |
0‑L | 2515 | Microcephaly-cardiomyopathy syndrome | 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 | 2516 | Microcephaly-cardiac defect-lung malsegmentation syndrome | 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 | 2518 | Autosomal recessive chorioretinopathy-microcephaly syndrome | 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 | 2519 | Microcephaly-seizures-intellectual disability-heart disease syndrome | 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 | 2521 | Microcephaly-cleft palate-abnormal retinal pigmentation syndrome | 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 | 2522 | Microcephaly-cervical spine fusion anomalies syndrome | 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 | 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 | 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 | 2547 | Microphthalmia-microtia-fetal akinesia syndrome | 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 | 2549 | Oculoauriculovertebral spectrum with radial defects | 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 | 2551 | Microspherophakia-metaphyseal dysplasia syndrome | 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 | 2552 | Microsporidiosis | 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 | 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 | 256 | Early-onset generalized limb-onset dystonia | 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 | 257 | Epidermolysis bullosa simplex with muscular dystrophy | 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 | 258 | Laminin subunit alpha 2-related congenital muscular dystrophy | 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 | 25968 | Benign occipital epilepsy | ORPHAnet |
0‑L | 2597 | Mitochondrial myopathy-lactic acidosis-deafness syndrome | ORPHAnet |
0‑L | 2598 | Mitochondrial myopathy and sideroblastic anemia | ORPHAnet |
0‑L | 25980 | X-linked myopathy with excessive autophagy | ORPHAnet |
0‑L | 26 | Methylmalonic acidemia with homocystinuria | ORPHAnet |
0‑L | 260305 | Autosomal recessive 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 | 261 | Emery-Dreifuss muscular dystrophy | ORPHAnet |
0‑L | 26106 | Hereditary diffuse gastric cancer | ORPHAnet |
0‑L | 2611 | Linear verrucous nevus syndrome | 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 | 2612 | Linear nevus sebaceus 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 | 2613 | Nail-patella-like renal disease | 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 | 26137 | Juvenile temporal arteritis | ORPHAnet |
0‑L | 2614 | Nail-patella 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 | 2616 | 3M syndrome | 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 | 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 | 263297 | Glycogen storage disease with severe cardiomyopathy due to glycogenin deficiency | ORPHAnet |
0‑L | 2633 | Mesomelic dysplasia, Nievergelt type | 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 | 2634 | Mesomelic dwarfism, Reinhardt-Pfeiffer type | 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 | Congenital 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 | 26348 | Acquired prothrombin deficiency | ORPHAnet |
0‑L | 263482 | Spondyloepiphyseal dysplasia, Maroteaux type | ORPHAnet |
0‑L | 263487 | COG5-CDG | ORPHAnet |
0‑L | 26349 | Protein S acquired deficiency | ORPHAnet |
0‑L | 263494 | DPM3-CDG | ORPHAnet |
0‑L | 2635 | Metatropic dysplasia | 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 | 2636 | Microcephalic osteodysplastic primordial dwarfism types I and III | ORPHAnet |
0‑L | 263662 | Familial multiple meningioma | ORPHAnet |
0‑L | 263665 | NK-cell enteropathy | ORPHAnet |
0‑L | 2637 | Microcephalic osteodysplastic primordial dwarfism type II | ORPHAnet |
0‑L | 2639 | Fibular aplasia-complex brachydactyly syndrome | ORPHAnet |
0‑L | 264200 | 14q22q23 microdeletion syndrome | ORPHAnet |
0‑L | 2643 | Microcephalic primordial dwarfism, Toriello type | ORPHAnet |
0‑L | 264450 | Trisomy 8p | ORPHAnet |
0‑L | 2645 | Osteoglosphonic dysplasia | ORPHAnet |
0‑L | 264580 | Glycogen storage disease due to liver phosphorylase kinase deficiency | ORPHAnet |
0‑L | 2646 | Parastremmatic dwarfism | 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 | 2653 | Osteochondrodysplatic nanism-deafness-retinitis pigmentosa syndrome | ORPHAnet |
0‑L | 2655 | Thanatophoric dysplasia | ORPHAnet |
0‑L | 2658 | Lenz-Majewski hyperostotic dwarfism | ORPHAnet |
0‑L | 266 | Autosomal dominant limb-girdle muscular dystrophy type 1A | 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 | 267 | Calpain-3-related limb-girdle muscular dystrophy R1 | 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 | Familial isolated café-au-lait macules | 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 | 268 | Dysferlin-related limb-girdle muscular dystrophy R2 | ORPHAnet |
0‑L | 2680 | Hypomyelination neuropathy-arthrogryposis syndrome | 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 | 2686 | Cyclic neutropenia | ORPHAnet |
0‑L | 2688 | Adult idiopathic neutropenia | ORPHAnet |
0‑L | 268810 | Isolated posterior meningocele | 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 | 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 | 269 | Facioscapulohumeral dystrophy | ORPHAnet |
0‑L | 2690 | Neutropenia-monocytopenia-deafness syndrome | 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 | 2695 | Bifid nose | ORPHAnet |
0‑L | 269505 | Congenital communicating hydrocephalus | ORPHAnet |
0‑L | 269510 | Congenital non-communicating hydrocephalus | 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 | 27 | Vitamin B12-unresponsive methylmalonic acidemia | ORPHAnet |
0‑L | 270 | Oculopharyngeal muscular dystrophy | 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 | 272 | Congenital muscular dystrophy, Fukuyama 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 | 2728 | Blepharophimosis-intellectual disability syndrome, Ohdo type | ORPHAnet |
0‑L | 2729 | Okamoto syndrome | ORPHAnet |
0‑L | 273 | Steinert myotonic dystrophy | 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 | 274 | Bernard-Soulier syndrome | 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 | 275 | Severe combined immunodeficiency due to DCLRE1C deficiency | 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 | 275517 | Autoimmune lymphoproliferative syndrome with recurrent viral infections | ORPHAnet |
0‑L | 275523 | Dianzani autoimmune lymphoproliferative disease | ORPHAnet |
0‑L | 275543 | L1 syndrome | ORPHAnet |
0‑L | 275555 | Preeclampsia | ORPHAnet |
0‑L | 2756 | Orofaciodigital syndrome type 10 | 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 | 2759 | Imperforate oropharynx-costovertebral anomalies syndrome | ORPHAnet |
0‑L | 275944 | Hemolytic disease of the newborn with Kell alloimmunization | ORPHAnet |
0‑L | 276 | T-B+ severe combined immunodeficiency due to gamma chain deficiency | ORPHAnet |
0‑L | 2760 | OSLAM syndrome | 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 | 2762 | Progressive osseous heteroplasia | 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 | 2763 | Osteocraniostenosis | ORPHAnet |
0‑L | 276399 | Familial multinodular goiter | ORPHAnet |
0‑L | 2764 | Osteochondritis dissecans | 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 | 2767 | Carpotarsal osteochondromatosis | ORPHAnet |
0‑L | 2768 | Blount disease | ORPHAnet |
0‑L | 2769 | Familial osteodysplasia, Anderson type | ORPHAnet |
0‑L | 277 | Severe combined immunodeficiency due to adenosine deaminase deficiency | 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 | 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 | 28 | Vitamin B12-responsive methylmalonic acidemia | ORPHAnet |
0‑L | 280 | Wolf-Hirschhorn syndrome | ORPHAnet |
0‑L | 2800 | Extramammary Paget disease | 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 | 2801 | Juvenile Paget disease | 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 | 2802 | X-linked sideroblastic anemia and spinocerebellar ataxia | 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 deletion 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 | 2804 | W syndrome | 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 | 2805 | Partial pancreatic agenesis | 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 | 2806 | Subacute sclerosing leukoencephalitis | 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 | 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 | 2807 | Papilloma of choroid plexus | 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 | 2808 | Laryngeal abductor paralysis | 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 | 2809 | Familial recurrent peripheral facial palsy | ORPHAnet |
0‑L | 280917 | Idiopathic posterior uveitis | ORPHAnet |
0‑L | 280921 | Idiopathic panuveitis | ORPHAnet |
0‑L | 281 | Monosomy 5p | 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 | 2812 | Parana hard skin syndrome | ORPHAnet |
0‑L | 281201 | Keratosis linearis-ichthyosis congenita-sclerosing keratoderma 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 | 282166 | Inherited Creutzfeldt-Jakob disease | 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 | 283 | Demodicidosis | 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 | 28378 | Tyrosinemia type 2 | ORPHAnet |
0‑L | 2838 | Renal caliceal diverticuli-deafness syndrome | ORPHAnet |
0‑L | 2839 | Pelvis-shoulder dysplasia | ORPHAnet |
0‑L | 284 | Alveolar echinococcosis | ORPHAnet |
0‑L | 2840 | Pelvic dysplasia-arthrogryposis of lower limbs syndrome | ORPHAnet |
0‑L | 2841 | Familial benign chronic pemphigus | 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 | 2842 | Penoscrotal transposition | 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 | 2843 | Pentosuria | 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 | DICER1 tumor-predisposition 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 | 2847 | Pericardial and diaphragmatic defect | ORPHAnet |
0‑L | 2848 | Camptodactyly-arthropathy-coxa-vara-pericarditis syndrome | ORPHAnet |
0‑L | 2849 | Perlman syndrome | 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 | 285 | Hypermobile Ehlers-Danlos 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 | 286 | Vascular Ehlers-Danlos 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 | 287 | Classical Ehlers-Danlos 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 | 288 | Hereditary elliptocytosis | 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 | 289 | Ellis Van Creveld syndrome | ORPHAnet |
0‑L | 2890 | Pili torti-onychodysplasia syndrome | ORPHAnet |
0‑L | 2891 | Pili torti-developmental delay-neurological abnormalities syndrome | ORPHAnet |
0‑L | 289157 | Hypocalcemic vitamin D-dependent rickets | ORPHAnet |
0‑L | 289176 | Autosomal recessive hypophosphatemic rickets | ORPHAnet |
0‑L | 2892 | Pilodental dysplasia-refractive errors syndrome | 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 | PASH 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 | 2896 | Pitt-Hopkins syndrome | 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 | 2897 | Pityriasis rubra pilaris | ORPHAnet |
0‑L | 2898 | X-linked intellectual disability-plagiocephaly syndrome | 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 | 2899 | Brachyolmia-amelogenesis imperfecta syndrome | ORPHAnet |
0‑L | 289916 | Vitamin B12-unresponsive methylmalonic acidemia type mut0 | ORPHAnet |
0‑L | 29 | Mevalonic aciduria | ORPHAnet |
0‑L | 290 | Congenital rubella 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 | 29072 | Hereditary pheochromocytoma-paraganglioma | ORPHAnet |
0‑L | 29073 | Multiple myeloma | ORPHAnet |
0‑L | 2908 | Kindler epidermolysis bullosa | ORPHAnet |
0‑L | 2909 | Rothmund-Thomson syndrome | ORPHAnet |
0‑L | 291 | Congenital varicella 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 | 292 | Congenital enterovirus infection | ORPHAnet |
0‑L | 2920 | Oliver syndrome | ORPHAnet |
0‑L | 29207 | Reactive arthritis | 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 | 293 | Congenital herpes simplex virus infection | ORPHAnet |
0‑L | 2930 | Cronkhite-Canada syndrome | 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 | 2932 | Chronic inflammatory demyelinating polyneuropathy | 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 | 2934 | Polysyndactyly-cardiac malformation syndrome | ORPHAnet |
0‑L | 293462 | Pre-Descemet corneal dystrophy | ORPHAnet |
0‑L | 2935 | Crossed polysyndactyly | 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 | 294 | Fetal cytomegalovirus syndrome | ORPHAnet |
0‑L | 2940 | Porencephaly | 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 | 2941 | Porencephaly-cerebellar hypoplasia-internal malformations syndrome | ORPHAnet |
0‑L | 2942 | Postpoliomyelitis syndrome | ORPHAnet |
0‑L | 294415 | Renal-hepatic-pancreatic dysplasia | ORPHAnet |
0‑L | 294422 | Chronic intestinal failure | ORPHAnet |
0‑L | 2946 | Brachydactyly-long thumb syndrome | ORPHAnet |
0‑L | 2947 | Triphalangeal thumbs-brachyectrodactyly syndrome | 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 | 295 | Fetal parvovirus syndrome | 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 | 2951 | Absent thumb-short stature-immunodeficiency syndrome | 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 | 2952 | Adducted thumbs-arthrogryposis syndrome, Christian type | 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 | 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 | 296 | Ollier disease | 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 | 297 | Tick-borne encephalitis | 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 difference of sex development-anorectal anomalies syndrome | ORPHAnet |
0‑L | 2975 | 46,XX difference of sex development-skeletal anomalies syndrome | ORPHAnet |
0‑L | 2976 | Pseudoleprechaunism syndrome, Patterson type | ORPHAnet |
0‑L | 2978 | Chronic intestinal pseudoobstruction | ORPHAnet |
0‑L | 298 | Mitochondrial neurogastrointestinal encephalomyopathy | ORPHAnet |
0‑L | 2980 | Acrootoocular syndrome | ORPHAnet |
0‑L | 29822 | Spontaneous periodic hypothermia | ORPHAnet |
0‑L | 2983 | Difference 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 | 30 | Hereditary orotic aciduria | ORPHAnet |
0‑L | 300 | Bifunctional enzyme deficiency | ORPHAnet |
0‑L | 3000 | Familial peripheral male-limited precocious puberty | ORPHAnet |
0‑L | 300179 | Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency | ORPHAnet |
0‑L | 3002 | Immune thrombocytopenia | 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 | 3003 | Pyknoachondrogenesis | 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 | 3004 | Mirror polydactyly-vertebral segmentation-limbs defects syndrome | ORPHAnet |
0‑L | 300493 | Sagliker syndrome | ORPHAnet |
0‑L | 300496 | Multiple congenital anomalies-hypotonia-seizures syndrome type 2 | ORPHAnet |
0‑L | 3005 | Pyle disease | 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 | 3006 | Pyridoxine-dependent epilepsy | 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 | 3008 | Pyruvate carboxylase deficiency | 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 | 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 | 302 | Epidermodysplasia verruciformis | 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 | 30391 | Isolated biliary atresia | 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 | 306 | Benign familial infantile epilepsy | ORPHAnet |
0‑L | 3063 | X-linked intellectual disability, Snyder type | 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 | 3068 | Intellectual disability-myopathy-short stature-endocrine defect syndrome | ORPHAnet |
0‑L | 307 | Juvenile myoclonic epilepsy | 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 | 307766 | Curly hair-acral keratoderma-caries syndrome | ORPHAnet |
0‑L | 3078 | Severe X-linked intellectual disability, Gustavson type | ORPHAnet |
0‑L | 3079 | Intellectual disability, Buenos-Aires type | ORPHAnet |
0‑L | 307936 | Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome | ORPHAnet |
0‑L | 308 | Progressive myoclonic epilepsy type 1 | ORPHAnet |
0‑L | 3080 | Intellectual disability, Wolff type | ORPHAnet |
0‑L | 308013 | Focal acral hyperkeratosis | ORPHAnet |
0‑L | 3082 | Intellectual disability-polydactyly-uncombable hair syndrome | 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 | 3085 | Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome | ORPHAnet |
0‑L | 308552 | Glycogen storage disease due to acid maltase deficiency, infantile onset | ORPHAnet |
0‑L | 3086 | Autosomal dominant vitreoretinochoroidopathy | 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 | 3088 | Revesz syndrome | 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 | 3092 | Fixed subaortic stenosis | ORPHAnet |
0‑L | 309239 | Tay-Sachs disease, B1 variant | ORPHAnet |
0‑L | 30924 | Primary hypomagnesemia with secondary hypocalcemia | ORPHAnet |
0‑L | 309246 | GM2 gangliosidosis, AB variant | ORPHAnet |
0‑L | 30925 | Hereditary central diabetes insipidus | 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 | 3093 | Congenital aortic valve stenosis | 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 | 3095 | Atypical Rett syndrome | ORPHAnet |
0‑L | 3096 | Reye syndrome | ORPHAnet |
0‑L | 3097 | Meacham syndrome | ORPHAnet |
0‑L | 309789 | Rhizomelic chondrodysplasia punctata type 1 | ORPHAnet |
0‑L | 309796 | Rhizomelic chondrodysplasia punctata type 2 | ORPHAnet |
0‑L | 3098 | Rhizomelic syndrome, Urbach type | ORPHAnet |
0‑L | 309803 | Rhizomelic chondrodysplasia punctata type 3 | ORPHAnet |
0‑L | 309854 | Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome | ORPHAnet |
0‑L | 3099 | Rheumatic fever | ORPHAnet |
0‑L | 31 | Oxoglutaric aciduria | 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 | 31043 | Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement | 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 | 31112 | Dermatofibrosarcoma protuberans | ORPHAnet |
0‑L | 3115 | Roussy-Lévy syndrome | ORPHAnet |
0‑L | 31150 | Tangier disease | ORPHAnet |
0‑L | 312 | Autosomal dominant epidermolytic ichthyosis | ORPHAnet |
0‑L | 31202 | Melioidosis | ORPHAnet |
0‑L | 31204 | Nocardiosis | ORPHAnet |
0‑L | 31205 | Rat-bite fever | ORPHAnet |
0‑L | 3121 | Ruvalcaba syndrome | ORPHAnet |
0‑L | 3124 | Saccharopinuria | ORPHAnet |
0‑L | 3129 | Sarcosinemia | ORPHAnet |
0‑L | 313 | Lamellar ichthyosis | ORPHAnet |
0‑L | 3130 | Satoyoshi syndrome | ORPHAnet |
0‑L | 3132 | Say-Barber-Miller syndrome | ORPHAnet |
0‑L | 3134 | SCARF syndrome | ORPHAnet |
0‑L | 3137 | Alpha-N-acetylgalactosaminidase deficiency | 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 | 3138 | Ulnar-mammary 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 | 314 | Erythroderma desquamativum | 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 | 3143 | Autoimmune polyendocrinopathy type 2 | 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 | 3144 | Schneckenbecken dysplasia | 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 | 3145 | Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome | 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 triplication 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 | 3148 | Malignant peripheral nerve sheath tumor | 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 | 315 | Erythrokeratoderma ''en cocardes'' | ORPHAnet |
0‑L | 3151 | Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome | ORPHAnet |
0‑L | 3152 | Sclerosteosis | 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 | 3156 | Senior-Loken syndrome | ORPHAnet |
0‑L | 3157 | Septo-optic dysplasia spectrum | ORPHAnet |
0‑L | 316 | Progressive symmetric erythrokeratodermia | 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 | 317 | Erythrokeratodermia variabilis | ORPHAnet |
0‑L | 31709 | Infantile convulsions and choreoathetosis | ORPHAnet |
0‑L | 3172 | Eyebrow duplication-syndactyly syndrome | ORPHAnet |
0‑L | 3173 | Infantile spasms-broad thumbs syndrome | 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 | 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 | 318 | Acute erythroid leukemia | ORPHAnet |
0‑L | 3180 | Spondylocamptodactyly syndrome | ORPHAnet |
0‑L | 3181 | Sprengel deformity | 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 | 3184 | Steatocystoma multiplex-natal teeth syndrome | ORPHAnet |
0‑L | 3186 | Holoprosencephaly-radial heart renal anomalies syndrome | ORPHAnet |
0‑L | 3189 | Congenital pulmonary valvar stenosis | ORPHAnet |
0‑L | 319 | Skeletal Ewing sarcoma | ORPHAnet |
0‑L | 3190 | Subpulmonary stenosis | ORPHAnet |
0‑L | 3191 | Subaortic stenosis-short stature syndrome | 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 | 3192 | Supravalvular pulmonary stenosis | 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 | 3193 | Supravalvular aortic stenosis | 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 | 3194 | Corneodermatoosseous 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 | 3196 | Steroid dehydrogenase deficiency-dental anomalies syndrome | 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 | 3197 | Hereditary hyperekplexia | ORPHAnet |
0‑L | 3198 | Stiff person spectrum disorder | ORPHAnet |
0‑L | 3199 | Stimmler syndrome | ORPHAnet |
0‑L | 32 | Glutathione synthetase deficiency | ORPHAnet |
0‑L | 320 | Apparent mineralocorticoid excess | 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 | 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 | 3204 | Stormorken-Sjaastad-Langslet syndrome | 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 | 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 | 321 | Multiple osteochondromas | 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 | 322 | Exstrophy-epispadias complex | 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 | 324 | Fabry disease | 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 | 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 | 3243 | Sweet syndrome | ORPHAnet |
0‑L | 324307 | Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome | 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 | 3246 | Symphalangism with multiple anomalies of hands and feet | 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 | 3248 | Distal symphalangism | 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 | 325 | Congenital factor II deficiency | ORPHAnet |
0‑L | 3250 | Proximal symphalangism | ORPHAnet |
0‑L | 325124 | Testicular agenesis | ORPHAnet |
0‑L | 3253 | Cleft lip/palate-ectodermal dysplasia syndrome | ORPHAnet |
0‑L | 325345 | 46,XY ovotesticular difference of sex development | ORPHAnet |
0‑L | 325448 | Leydig cell hypoplasia due to LHB deficiency | ORPHAnet |
0‑L | 3255 | Filippi syndrome | 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 | 3258 | Cenani-Lenz syndrome | ORPHAnet |
0‑L | 3259 | Syndactyly-polydactyly-ear lobe syndrome | ORPHAnet |
0‑L | 326 | Congenital factor V deficiency | 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 | 327 | Congenital factor VII deficiency | 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 | 328 | Congenital factor X deficiency | 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 | 329 | Congenital factor XI deficiency | ORPHAnet |
0‑L | 3291 | Teebi-Shaltout syndrome | 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 | 3292 | Tel Hashomer camptodactyly syndrome | 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 | 3293 | Telecanthus-hypertelorism-strabismus-pes cavus syndrome | 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 | 3294 | Extensor tendons of finger anomalies | 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 | 32960 | Tumor necrosis factor receptor 1 associated periodic syndrome | 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 | 3299 | Tetanus | 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 | 33 | Isovaleric acidemia | ORPHAnet |
0‑L | 330 | Congenital factor XII deficiency | ORPHAnet |
0‑L | 330001 | Wild type ATTR amyloidosis | ORPHAnet |
0‑L | 33001 | Lymphedema-distichiasis syndrome | 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 | 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 | 33067 | Metaphyseal chondrodysplasia, Jansen type | ORPHAnet |
0‑L | 33069 | Dravet syndrome | ORPHAnet |
0‑L | 3307 | Tetrasomy 18p | ORPHAnet |
0‑L | 3309 | Tetrasomy 5p | ORPHAnet |
0‑L | 331 | Congenital factor XIII deficiency | ORPHAnet |
0‑L | 3310 | Tetrasomy 9p | ORPHAnet |
0‑L | 33108 | Lethal multiple pterygium syndrome | ORPHAnet |
0‑L | 33110 | Autosomal agammaglobulinemia | ORPHAnet |
0‑L | 33111 | Granulomatous slack skin | 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 | 3312 | Thalidomide embryopathy | 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 | 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 | 332 | Congenital intrinsic factor deficiency | ORPHAnet |
0‑L | 3320 | Thrombocytopenia-absent radius syndrome | ORPHAnet |
0‑L | 33208 | Idiopathic hypersomnia | ORPHAnet |
0‑L | 3322 | Hoyeraal-Hreidarsson syndrome | ORPHAnet |
0‑L | 33226 | Waldenström macroglobulinemia | 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 | 33276 | Kaposi sarcoma | ORPHAnet |
0‑L | 3328 | Absent tibia-polydactyly-arachnoid cyst syndrome | ORPHAnet |
0‑L | 3329 | Tibial aplasia-ectrodactyly syndrome | ORPHAnet |
0‑L | 333 | Farber disease | ORPHAnet |
0‑L | 33314 | Jessner lymphocytic infiltration of the skin | ORPHAnet |
0‑L | 33355 | Reticular dysgenesis | ORPHAnet |
0‑L | 33364 | Trichothiodystrophy | 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 | 334 | Familial atrial fibrillation | ORPHAnet |
0‑L | 33402 | Pediatric hepatocellular carcinoma | ORPHAnet |
0‑L | 33408 | Bullous lichen planus | 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 | 33445 | Neuroectodermal melanolysosomal disease | ORPHAnet |
0‑L | 3346 | Tracheal agenesis | ORPHAnet |
0‑L | 3347 | Mounier-Kühn syndrome | ORPHAnet |
0‑L | 33475 | Meningococcal meningitis | ORPHAnet |
0‑L | 3348 | Tracheobronchopathia osteochondroplastica | ORPHAnet |
0‑L | 335 | Congenital fibrinogen deficiency | 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 | 33543 | Kleine-Levin syndrome | ORPHAnet |
0‑L | 3355 | Trichoodontoonychial dysplasia | 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 | 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 | 337 | Fibrodysplasia ossificans progressiva | ORPHAnet |
0‑L | 3374 | Unilateral ocular duplication | 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 duplication 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 | 3392 | Tularemia | ORPHAnet |
0‑L | 340 | Hemorrhagic fever-renal syndrome | 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 | 34149 | Autosomal dominant tubulointerstitial kidney disease | ORPHAnet |
0‑L | 3416 | Hyperostosis corticalis generalisata | ORPHAnet |
0‑L | 3417 | Van den Bosch syndrome | ORPHAnet |
0‑L | 342 | Familial Mediterranean fever | ORPHAnet |
0‑L | 34217 | Naxos disease | 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 | 343 | Hyperimmunoglobulinemia D with periodic fever | 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 | 345 | Dissecting cellulitis of the scalp | ORPHAnet |
0‑L | 3451 | Infantile spasms syndrome | 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 | 3452 | Whipple disease | 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 | 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 | 34587 | Glycogen storage disease due to LAMP-2 deficiency | ORPHAnet |
0‑L | 3459 | Wilson-Turner syndrome | ORPHAnet |
0‑L | 34592 | Immunodeficiency by defective expression of MHC class I | ORPHAnet |
0‑L | 346 | Quinquaud folliculitis decalvans | 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 | 347 | Frasier 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 | 348 | Fructose-1,6-bisphosphatase deficiency | ORPHAnet |
0‑L | 349 | Fucosidosis | ORPHAnet |
0‑L | 35 | Propionic acidemia | 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 | 351 | Galactosialidosis | 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 | 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 | 353 | Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5 | 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 | 354 | GM1 gangliosidosis | ORPHAnet |
0‑L | 355 | Gaucher disease | ORPHAnet |
0‑L | 356 | Gerstmann-Straussler-Scheinker syndrome | 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 | 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 | 35701 | 3-hydroxy-3-methylglutaryl-CoA synthase deficiency | ORPHAnet |
0‑L | 357027 | Hereditary retinoblastoma | ORPHAnet |
0‑L | 357034 | Non-hereditary retinoblastoma | ORPHAnet |
0‑L | 35704 | L-Arginine:glycine amidinotransferase deficiency | ORPHAnet |
0‑L | 357043 | Amyotrophic lateral sclerosis type 4 | ORPHAnet |
0‑L | 357058 | Autosomal recessive cutis laxa type 2A | ORPHAnet |
0‑L | 35706 | Glutaric acidemia type 3 | 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 | 35708 | Aromatic L-amino acid decarboxylase deficiency | ORPHAnet |
0‑L | 35710 | Glucose-galactose malabsorption | 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 | 35737 | Morning glory disc anomaly | ORPHAnet |
0‑L | 358 | Gitelman syndrome | ORPHAnet |
0‑L | 35858 | Imerslund-Gräsbeck syndrome | ORPHAnet |
0‑L | 35878 | Hyperinsulinism-hyperammonemia syndrome | ORPHAnet |
0‑L | 35889 | Acute opioid intoxication | ORPHAnet |
0‑L | 35909 | Combined deficiency of factor V and factor VIII | ORPHAnet |
0‑L | 36 | Acrocallosal syndrome | ORPHAnet |
0‑L | 360 | Glioblastoma | ORPHAnet |
0‑L | 361 | Familial glucocorticoid deficiency | 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 | 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 | 36355 | Bleeding disorder due to P2Y12 defect | 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 | 36367 | Distal deletion 1q | 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 | 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 | 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 | 36397 | Adiposis dolorosa | 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 | 364 | Glycogen storage disease due to glucose-6-phosphatase deficiency | 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 | 36412 | Hypocomplementemic urticarial vasculitis | ORPHAnet |
0‑L | 364198 | Bipartite talus | ORPHAnet |
0‑L | 36426 | Stevens-Johnson syndrome | ORPHAnet |
0‑L | 364577 | Intellectual disability-brachydactyly-Pierre Robin syndrome | 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 | 36899 | Myoclonus-dystonia syndrome | ORPHAnet |
0‑L | 369 | Glycogen storage disease due to liver glycogen phosphorylase deficiency | ORPHAnet |
0‑L | 36913 | Autoimmune hypoparathyroidism | 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 | 37 | Acrodermatitis enteropathica | 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-Toutain 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 | 37042 | Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome | 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 | 371 | Glycogen storage disease due to muscle phosphofructokinase deficiency | 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 | 37202 | Interstitial cystitis | ORPHAnet |
0‑L | 373 | Simpson-Golabi-Behmel syndrome | ORPHAnet |
0‑L | 375 | Anti-glomerular basement membrane disease | ORPHAnet |
0‑L | 37553 | Andersen-Tawil syndrome | ORPHAnet |
0‑L | 37559 | Acquired kinky hair syndrome | ORPHAnet |
0‑L | 376 | Gordon syndrome | ORPHAnet |
0‑L | 37612 | Episodic ataxia type 1 | ORPHAnet |
0‑L | 377 | Gorlin syndrome | ORPHAnet |
0‑L | 37748 | Schnitzler syndrome | ORPHAnet |
0‑L | 379 | Chronic granulomatous disease | ORPHAnet |
0‑L | 38 | Acrokeratoelastoidosis of Costa | 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 | 38874 | Dihydropyrimidinuria | ORPHAnet |
0‑L | 389 | Langerhans cell histiocytosis | ORPHAnet |
0‑L | 39 | Acromelanosis | ORPHAnet |
0‑L | 390 | Histoplasmosis | ORPHAnet |
0‑L | 39041 | Omenn syndrome | ORPHAnet |
0‑L | 39044 | Uveal melanoma | ORPHAnet |
0‑L | 391 | Classic Hodgkin lymphoma | 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 | 392 | Holt-Oram syndrome | ORPHAnet |
0‑L | 393 | 46,XX testicular difference of sex development | ORPHAnet |
0‑L | 394 | Classic homocystinuria | 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 | 395 | Homocystinuria due to methylene tetrahydrofolate reductase deficiency | ORPHAnet |
0‑L | 396 | Chronic hiccup | ORPHAnet |
0‑L | 397 | Giant cell arteritis | 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 | 39812 | Graft versus host disease | 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 | 398987 | Malignant teratoma of ovary | ORPHAnet |
0‑L | 399 | Huntington disease | 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 | 40 | Acromesomelic dysplasia, Maroteaux type | ORPHAnet |
0‑L | 400 | Cystic echinococcosis | ORPHAnet |
0‑L | 401 | Hymenolepiasis | 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 | 403 | Familial hyperaldosteronism type I | ORPHAnet |
0‑L | 40366 | Acitretin/etretinate embryopathy | ORPHAnet |
0‑L | 404 | Familial hyperaldosteronism type II | 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 | 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 | 40923 | Eales disease | ORPHAnet |
0‑L | 41 | Dyschromatosis symmetrica hereditaria | 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 | 412 | Dysbetalipoproteinemia | 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 | 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 | 41751 | Bietti crystalline dystrophy | 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 | 419 | Hyperprolinemia type 1 | ORPHAnet |
0‑L | 42 | Medium chain acyl-CoA dehydrogenase deficiency | 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 | 42062 | Iminoglycinuria | 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 | 422 | Idiopathic/heritable pulmonary arterial hypertension | ORPHAnet |
0‑L | 422526 | Hereditary clear cell renal cell carcinoma | ORPHAnet |
0‑L | 423 | Malignant hyperthermia of anesthesia | 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 | 424 | Familial hyperthyroidism due to mutations in TSH receptor | 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 | Undifferentiated carcinoma with osteoclast-like giant cells 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 | 425 | Apolipoprotein A-I deficiency | ORPHAnet |
0‑L | 425120 | STING-associated vasculopathy with onset in infancy | ORPHAnet |
0‑L | 42642 | PFAPA syndrome | ORPHAnet |
0‑L | 42665 | Tietz syndrome | ORPHAnet |
0‑L | 427 | Familial hypoaldosteronism | ORPHAnet |
0‑L | 42775 | PHACE syndrome | ORPHAnet |
0‑L | 428 | Autosomal dominant hypocalcemia | ORPHAnet |
0‑L | 429 | Hypochondroplasia | ORPHAnet |
0‑L | 43 | X-linked adrenoleukodystrophy | 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 | 43115 | Hereditary myopathy with lactic acidosis due to ISCU deficiency | ORPHAnet |
0‑L | 43116 | Serotonin syndrome | ORPHAnet |
0‑L | 431166 | Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection | ORPHAnet |
0‑L | 43117 | Acute tricyclic antidepressant poisoning | ORPHAnet |
0‑L | 43119 | Acute poisoning by drugs with membrane-stabilizing effect | 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 | 432 | Normosmic congenital hypogonadotropic hypogonadism | ORPHAnet |
0‑L | 43393 | Lambert-Eaton myasthenic syndrome | 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 | 436 | Hypophosphatasia | 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 | 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 | 439 | Isolated right ventricular hypoplasia | 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 | 44 | Neonatal adrenoleukodystrophy | 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 | 441 | Pure autonomic failure | 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 difference 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 | 444 | Marie Unna hereditary hypotrichosis | 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 | 446 | Neonatal hemochromatosis | ORPHAnet |
0‑L | 447 | Paroxysmal nocturnal hemoglobinuria | 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 | 44890 | Gastrointestinal stromal tumor | ORPHAnet |
0‑L | 449 | Hepatoblastoma | 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 | 45 | Adenosine monophosphate deaminase deficiency | 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 | 452 | X-linked lissencephaly with abnormal genitalia | 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 | 45358 | Congenital fibrosis of extraocular muscles | ORPHAnet |
0‑L | 454 | Acquired ichthyosis | 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 | 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 | 455 | Superficial epidermolytic ichthyosis | 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 | 457 | Harlequin ichthyosis | 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 | 46 | Adenylosuccinate lyase deficiency | ORPHAnet |
0‑L | 46059 | Lathosterolosis | ORPHAnet |
0‑L | 461 | Recessive X-linked ichthyosis | ORPHAnet |
0‑L | 46135 | Primary central nervous system lymphoma | ORPHAnet |
0‑L | 46348 | Paroxysmal extreme pain disorder | ORPHAnet |
0‑L | 464 | Incontinentia pigmenti | 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 | 46486 | Mucous membrane pemphigoid | ORPHAnet |
0‑L | 46487 | Epidermolysis bullosa acquisita | ORPHAnet |
0‑L | 46488 | Linear IgA dermatosis | ORPHAnet |
0‑L | 465 | Congenital plasminogen activator inhibitor type 1 deficiency | ORPHAnet |
0‑L | 46532 | Hereditary persistence of fetal hemoglobin-beta-thalassemia syndrome | ORPHAnet |
0‑L | 465508 | Symptomatic form of HFE-related hemochromatosis | ORPHAnet |
0‑L | 465824 | Fetal encasement syndrome | ORPHAnet |
0‑L | 466 | Fatal familial insomnia | ORPHAnet |
0‑L | 466026 | Class I glucose-6-phosphate dehydrogenase deficiency | ORPHAnet |
0‑L | 46627 | Char syndrome | 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 | 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 | 46724 | Cerebral arteriovenous malformation | 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 | 469 | Hereditary fructose intolerance | ORPHAnet |
0‑L | 47 | X-linked agammaglobulinemia | ORPHAnet |
0‑L | 470 | Lysinuric protein intolerance | 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 | 472 | Isosporiasis | ORPHAnet |
0‑L | 474 | Jeune syndrome | ORPHAnet |
0‑L | 475 | Joubert syndrome | 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 | 47612 | Felty 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 | 477 | KID 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 | 478 | Kallmann 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 | 48 | Congenital bilateral absence of vas deferens | ORPHAnet |
0‑L | 480 | Kearns-Sayre syndrome | 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 | 481 | Kennedy disease | ORPHAnet |
0‑L | 48104 | Pyoderma gangrenosum | ORPHAnet |
0‑L | 481152 | PYCR2-related microcephaly-progressive leukoencephalopathy | ORPHAnet |
0‑L | 48162 | Lewis-Sumner syndrome | ORPHAnet |
0‑L | 481662 | Familial Chilblain lupus | ORPHAnet |
0‑L | 481665 | USP18 deficiency | ORPHAnet |
0‑L | 481986 | Familial schizencephaly | ORPHAnet |
0‑L | 482 | Kimura disease | 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 | 483 | Congenital high-molecular-weight kininogen deficiency | 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 | 485 | Kniest dysplasia | 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 | 486 | Autosomal dominant severe congenital neutropenia | ORPHAnet |
0‑L | 48652 | Monosomy 22q13.3 | 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 | 48686 | Primary effusion lymphoma | ORPHAnet |
0‑L | 487 | Krabbe disease | ORPHAnet |
0‑L | 48736 | Embryonal carcinoma of the central nervous system | 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 | 488 | Urachal cyst | ORPHAnet |
0‑L | 488168 | Microcephaly-congenital cataract-psoriasiform dermatitis syndrome | ORPHAnet |
0‑L | 48818 | Aceruloplasminemia | 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 | 48918 | Focal myositis | ORPHAnet |
0‑L | 49 | Penile agenesis | ORPHAnet |
0‑L | 490 | Omphalomesenteric cyst | ORPHAnet |
0‑L | 49041 | IgG4-related retroperitoneal fibrosis | ORPHAnet |
0‑L | 49042 | Dentinogenesis imperfecta | ORPHAnet |
0‑L | 492 | Proliferating trichilemmal cyst | ORPHAnet |
0‑L | 493 | Familial keratoacanthoma | ORPHAnet |
0‑L | 493342 | Vibratory urticaria | ORPHAnet |
0‑L | 49382 | Achromatopsia | ORPHAnet |
0‑L | 494 | Keratoderma hereditarium mutilans | 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 | 495 | Transgrediens et progrediens palmoplantar keratoderma | ORPHAnet |
0‑L | 495274 | Charcot-Marie-Tooth disease type 2T | ORPHAnet |
0‑L | 49566 | Acquired purpura fulminans | 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 | 49804 | Lichen amyloidosis | ORPHAnet |
0‑L | 498228 | Phyllodes tumor of the prostate | ORPHAnet |
0‑L | 498251 | Menstrual cycle-dependent periodic fever | ORPHAnet |
0‑L | 49827 | Thiamine-responsive megaloblastic anemia syndrome | 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 | 499 | Kerion celsi | 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 | 5 | Long chain 3-hydroxyacyl-CoA dehydrogenase deficiency | ORPHAnet |
0‑L | 50 | Aicardi syndrome | ORPHAnet |
0‑L | 500 | Noonan syndrome with multiple lentigines | ORPHAnet |
0‑L | 500055 | Hao-Fountain syndrome due to 16p13.2 microdeletion | 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 | 501 | Lafora disease | ORPHAnet |
0‑L | 502 | Trichorhinophalangeal syndrome type 2 | 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 | 50251 | Pleural mesothelioma | ORPHAnet |
0‑L | 503 | Larsen syndrome | ORPHAnet |
0‑L | 504 | Creeping myiasis | 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 | 505 | Graham Little-Piccardi-Lassueur syndrome | 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 | 506 | Leigh syndrome | 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 | 507 | Leishmaniasis | ORPHAnet |
0‑L | 508 | Leprechaunism | ORPHAnet |
0‑L | 50809 | Talo-patello-scaphoid osteolysis | ORPHAnet |
0‑L | 508093 | MEPAN syndrome | 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 | 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 | 509 | Leptospirosis | 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 | 51 | Aicardi-Goutières syndrome | ORPHAnet |
0‑L | 510 | Lesch-Nyhan syndrome | ORPHAnet |
0‑L | 51083 | Familial short QT syndrome | ORPHAnet |
0‑L | 51084 | Torsade-de-pointes syndrome with short coupling interval | ORPHAnet |
0‑L | 511 | Maple syrup urine disease | ORPHAnet |
0‑L | 51188 | Ethylmalonic encephalopathy | ORPHAnet |
0‑L | 512 | Metachromatic leukodystrophy | ORPHAnet |
0‑L | 512017 | Chronic lymphoproliferative disorder of natural killer cells | ORPHAnet |
0‑L | 51208 | Formiminoglutamic aciduria | 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 | 514 | Acute monoblastic/monocytic leukemia | ORPHAnet |
0‑L | 514352 | Congenital brachyesophagus-intrathoracic stomach-vertebral anomalies syndrome | ORPHAnet |
0‑L | 51608 | Generalized arterial calcification of infancy | ORPHAnet |
0‑L | 51636 | WHIM syndrome | ORPHAnet |
0‑L | 517 | Acute myelomonocytic leukemia | ORPHAnet |
0‑L | 518 | Acute megakaryoblastic leukemia | ORPHAnet |
0‑L | 51890 | Anterior cutaneous nerve entrapment 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 | 52 | Alagille syndrome | ORPHAnet |
0‑L | 520 | Acute promyelocytic leukemia | 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 | 521 | Chronic myeloid leukemia | 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 | 523 | Hereditary leiomyomatosis and renal cell cancer | ORPHAnet |
0‑L | 52368 | Mohr-Tranebjaerg syndrome | ORPHAnet |
0‑L | 524 | Li-Fraumeni 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 | 525 | Lichen planopilaris | ORPHAnet |
0‑L | 52503 | X-linked creatine transporter deficiency | ORPHAnet |
0‑L | 52530 | Pseudo-von Willebrand disease | ORPHAnet |
0‑L | 525731 | Pediatric-onset Graves disease | ORPHAnet |
0‑L | 525738 | Prepubertal anorexia nervosa | ORPHAnet |
0‑L | 526 | Liddle syndrome | 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 | 528 | Congenital generalized lipodystrophy | 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 | 529 | Roch-Leri mesosomatous lipomatosis | ORPHAnet |
0‑L | 52901 | Isolated follicle stimulating hormone 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 | 52994 | Orbital leiomyoma | 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 | 53 | Albers-Schönberg osteopetrosis | ORPHAnet |
0‑L | 530 | Lipoid proteinosis | 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 | 53035 | Caroli disease | 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 | 531 | Miller-Dieker syndrome | ORPHAnet |
0‑L | 531151 | 9q21.13 microdeletion syndrome | ORPHAnet |
0‑L | 53271 | Muenke syndrome | ORPHAnet |
0‑L | 53296 | Familial cutaneous collagenoma | ORPHAnet |
0‑L | 533 | Listeriosis | ORPHAnet |
0‑L | 53347 | Brody myopathy | ORPHAnet |
0‑L | 53351 | X-linked dystonia-parkinsonism | ORPHAnet |
0‑L | 53372 | Hereditary geniospasm | ORPHAnet |
0‑L | 534 | Oculocerebrorenal syndrome of Lowe | ORPHAnet |
0‑L | 53540 | Goldmann-Favre syndrome | ORPHAnet |
0‑L | 535453 | Familial lipase maturation factor 1 deficiency | ORPHAnet |
0‑L | 535458 | Familial GPIHBP1 deficiency | ORPHAnet |
0‑L | 53583 | Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity | ORPHAnet |
0‑L | 536 | Systemic lupus erythematosus | 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 | 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 | Myosin storage myopathy | ORPHAnet |
0‑L | 537 | Toxic epidermal necrolysis | ORPHAnet |
0‑L | 537072 | PLG-related hereditary angioedema with normal C1Inh | 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 | 538 | Lymphangioleiomyomatosis | 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 | 54 | X-linked recessive ocular albinism | ORPHAnet |
0‑L | 540 | Familial hemophagocytic lymphohistiocytosis | ORPHAnet |
0‑L | 54028 | Plummer-Vinson syndrome | ORPHAnet |
0‑L | 54057 | Thrombotic thrombocytopenic purpura | 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 | 54247 | Posterior cortical atrophy | ORPHAnet |
0‑L | 54251 | Corticosteroid-sensitive aseptic abscess 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 | 54260 | Left ventricular noncompaction | ORPHAnet |
0‑L | 542643 | Livedoid vasculopathy | ORPHAnet |
0‑L | 542657 | Isolated hyperchlorhidrosis | ORPHAnet |
0‑L | 54272 | Hepatocellular adenoma | ORPHAnet |
0‑L | 543 | Burkitt lymphoma | ORPHAnet |
0‑L | 543470 | Optic atrophy-ataxia-peripheral neuropathy-global developmental delay syndrome | ORPHAnet |
0‑L | 54368 | Sarcocystosis | ORPHAnet |
0‑L | 54370 | Primary membranoproliferative glomerulonephritis | 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 | 545 | Follicular lymphoma | ORPHAnet |
0‑L | 54595 | Craniopharyngioma | 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 | 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 | 55595 | TNP03-related limb-girdle muscular dystrophy D2 | ORPHAnet |
0‑L | 55596 | HNRNPDL-related limb-girdle muscular dystrophy D3 | ORPHAnet |
0‑L | 556 | Malakoplakia | ORPHAnet |
0‑L | 556030 | Early-onset familial hypoaldosteronism | ORPHAnet |
0‑L | 556037 | Late-onset familial hypoaldosteronism | ORPHAnet |
0‑L | 55654 | Hypotrichosis simplex | ORPHAnet |
0‑L | 55655 | Pneumococcal meningitis | ORPHAnet |
0‑L | 556955 | Pancreatic agenesis-holoprosencephaly syndrome | ORPHAnet |
0‑L | 556985 | Early-onset calcifying leukoencephalopathy-skeletal dysplasia | ORPHAnet |
0‑L | 557003 | Oculoskeletodental 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 | 558 | Marfan syndrome | ORPHAnet |
0‑L | 558411 | Idiopathic gastroparesis | ORPHAnet |
0‑L | 55880 | Chondrosarcoma | ORPHAnet |
0‑L | 55881 | Adamantinoma | ORPHAnet |
0‑L | 559 | Marinesco-Sjögren syndrome | ORPHAnet |
0‑L | 56 | Alkaptonuria | ORPHAnet |
0‑L | 560 | Marshall syndrome | ORPHAnet |
0‑L | 561 | Marshall-Smith syndrome | ORPHAnet |
0‑L | 561854 | FOXG1 syndrome | ORPHAnet |
0‑L | 562 | McCune-Albright 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 | 563 | Peripartum cardiomyopathy | ORPHAnet |
0‑L | 56304 | Atelosteogenesis type II | ORPHAnet |
0‑L | 56305 | Atelosteogenesis type III | 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 | 564 | Meckel syndrome | ORPHAnet |
0‑L | 564003 | Osteochondrosis of the metatarsal bone | ORPHAnet |
0‑L | 564178 | Primary hypomagnesemia-refractory seizures-intellectual disability syndrome | ORPHAnet |
0‑L | 56425 | Cold agglutinin disease | ORPHAnet |
0‑L | 565 | Menkes disease | ORPHAnet |
0‑L | 565612 | Primary 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 | 566 | Congenital microcoria | 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 | 567 | 22q11.2 deletion 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 | 568 | Microphthalmia, Lenz type | 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 | 569 | Familial or sporadic hemiplegic migraine | 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 | 57 | Glycogen storage disease due to aldolase A deficiency | ORPHAnet |
0‑L | 570 | Moebius syndrome | 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 | 57145 | SUNCT syndrome | ORPHAnet |
0‑L | 57196 | Medial condensing osteitis of the clavicle | ORPHAnet |
0‑L | 572 | Immunodeficiency by defective expression of MHC class II | 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 | 573 | Monilethrix | ORPHAnet |
0‑L | 573253 | Split cord malformation type II | ORPHAnet |
0‑L | 574 | 21q deletion syndrome | 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 | 575 | Muckle-Wells syndrome | ORPHAnet |
0‑L | 575553 | Cathepsin A-related arteriopathy-strokes-leukoencephalopathy | ORPHAnet |
0‑L | 576 | Mucolipidosis type II | 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 | 577 | Mucolipidosis type III | ORPHAnet |
0‑L | 57777 | Cirrhotic cardiomyopathy | ORPHAnet |
0‑L | 57782 | Mazabraud syndrome | ORPHAnet |
0‑L | 578 | Mucolipidosis type IV | ORPHAnet |
0‑L | 579 | Mucopolysaccharidosis type 1 | ORPHAnet |
0‑L | 58 | Alexander disease | ORPHAnet |
0‑L | 580 | Mucopolysaccharidosis type 2 | ORPHAnet |
0‑L | 58017 | Classic hairy cell leukemia | ORPHAnet |
0‑L | 58040 | Osteoblastoma | 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 | 581 | Mucopolysaccharidosis type 3 | ORPHAnet |
0‑L | 581271 | Cramp-fasciculation syndrome | ORPHAnet |
0‑L | 582 | Mucopolysaccharidosis type 4 | ORPHAnet |
0‑L | 583 | Mucopolysaccharidosis type 6 | 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 | 584 | Mucopolysaccharidosis type 7 | ORPHAnet |
0‑L | 585 | Multiple sulfatase deficiency | 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 | 586 | Cystic fibrosis | ORPHAnet |
0‑L | 586130 | Sporadic fatal insomnia | ORPHAnet |
0‑L | 587 | Muir-Torre syndrome | ORPHAnet |
0‑L | 588 | Muscle-eye-brain disease | ORPHAnet |
0‑L | 589 | Myasthenia gravis | 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 | 59 | Allan-Herndon-Dudley syndrome | ORPHAnet |
0‑L | 590 | Congenital myasthenic syndrome | ORPHAnet |
0‑L | 590539 | Isolated melanotic schwannoma | ORPHAnet |
0‑L | 591 | Furuncular myiasis | ORPHAnet |
0‑L | 59135 | Laing early-onset distal myopathy | ORPHAnet |
0‑L | 59181 | Sorsby pseudoinflammatory fundus dystrophy | ORPHAnet |
0‑L | 592 | Macrophagic myofasciitis | 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 | 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 | 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 | 596 | X-linked centronuclear myopathy | 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 | 597 | Central core disease | 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 | 598 | Multiminicore myopathy | 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 | 6 | 3-methylcrotonyl-CoA carboxylase deficiency | ORPHAnet |
0‑L | 60 | Alpha-1-antitrypsin deficiency | ORPHAnet |
0‑L | 600 | Vocal cord and pharyngeal distal myopathy | ORPHAnet |
0‑L | 60014 | Argyria | ORPHAnet |
0‑L | 60015 | Enlarged parietal foramina | ORPHAnet |
0‑L | 600194 | Factor V Atlanta bleeding disorder | 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 | 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 | 602 | GNE myopathy | ORPHAnet |
0‑L | 603 | Distal myopathy, Welander type | 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 and Crisponi/Cold-induced sweating-like overlap syndrome | ORPHAnet |
0‑L | 603689 | KLHL7-related Bohring-Opitz-like syndrome | ORPHAnet |
0‑L | 603694 | KLHL7-related Crisponi/cold-induced sweating-like syndrome | ORPHAnet |
0‑L | 604680 | Symptomatic form of X-linked centronuclear myopathy in female carriers | ORPHAnet |
0‑L | 606 | Proximal myotonic myopathy | ORPHAnet |
0‑L | 609 | Tibial muscular dystrophy | ORPHAnet |
0‑L | 61 | Alpha-mannosidosis | ORPHAnet |
0‑L | 610 | Bethlem myopathy | 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 | 611 | Inclusion body myositis | 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 | 614 | Thomsen and Becker disease | ORPHAnet |
0‑L | 615 | Familial atrial myxoma | 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 | 616 | Medulloblastoma | ORPHAnet |
0‑L | 616874 | Rare disorder without a determined diagnosis after full investigation | ORPHAnet |
0‑L | 617 | Congenital primary megaureter | 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 | 618 | Familial melanoma | 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 | 62 | Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 | 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 | 621 | Hereditary methemoglobinemia | ORPHAnet |
0‑L | 621758 | Fibrosis-neurodegeneration-cerebral angiomatosis syndrome | ORPHAnet |
0‑L | 622 | Homocystinuria without methylmalonic aciduria | 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 | 624 | Familial multiple nevi flammei | 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 |
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 | 63 | Alport syndrome | ORPHAnet |
0‑L | 631 | Non-acquired isolated growth hormone deficiency | ORPHAnet |
0‑L | 631068 | Autosomal dominant spastic paraplegia type 80 | ORPHAnet |
0‑L | 631073 | Autosomal recessive spastic paraplegia type 82 | ORPHAnet |
0‑L | 631076 | Autosomal recessive spastic paraplegia type 83 | ORPHAnet |
0‑L | 631079 | Autosomal recessive spastic paraplegia type 84 | ORPHAnet |
0‑L | 631082 | Autosomal recessive spastic paraplegia type 85 | ORPHAnet |
0‑L | 631085 | Autosomal recessive spastic paraplegia type 86 | ORPHAnet |
0‑L | 631088 | Autosomal recessive spastic paraplegia type 87 | ORPHAnet |
0‑L | 631095 | Spinocerebellar ataxia type 44 | ORPHAnet |
0‑L | 631103 | Spinocerebellar ataxia type 48 | ORPHAnet |
0‑L | 631106 | Spinocerebellar ataxia type 49 | ORPHAnet |
0‑L | 631248 | Mitchell Syndrome | ORPHAnet |
0‑L | 631251 | Cancer of unknown primary site | ORPHAnet |
0‑L | 632 | Short stature due to isolated growth hormone deficiency with X-linked hypogammaglobulinemia | ORPHAnet |
0‑L | 63259 | Iniencephaly | ORPHAnet |
0‑L | 63260 | Craniorachischisis | ORPHAnet |
0‑L | 632603 | Mesomelic dysplasia-digital anomalies-intellectual disability syndrome | 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 | 633 | Laron syndrome | ORPHAnet |
0‑L | 633004 | KDM3B-related intellectual disability-facial dysmorphism-short stature syndrome | ORPHAnet |
0‑L | 633014 | SLC12A2-related developmental delay-intellectual disability-sensorineural deafness syndrome | ORPHAnet |
0‑L | 633021 | SLC12A2-related autosomal recessive neonatal-developmental delay-intellectual disability-feeding difficulty-sensorineural deafness syndrome | ORPHAnet |
0‑L | 633024 | SLC12A2-related autosomal dominant infantile-developmental delay-intellectual disability-sensorineural deafness syndrome | ORPHAnet |
0‑L | 633028 | CPE-related Prader-Willi-like syndrome | ORPHAnet |
0‑L | 633035 | Intellectual disability-early-onset cataract-microcephaly syndrome | ORPHAnet |
0‑L | 633076 | Split cord malformation, composite type | ORPHAnet |
0‑L | 633099 | PAICS deficiency | ORPHAnet |
0‑L | 633124 | Invasive scopulariopsis infection | ORPHAnet |
0‑L | 633211 | Preaxial digit brachydactyly-webbed fingers | ORPHAnet |
0‑L | 633228 | Proximal femoral focal deficiency | ORPHAnet |
0‑L | 634 | Netherton syndrome | ORPHAnet |
0‑L | 63442 | Angel-shaped phalango-epiphyseal dysplasia | ORPHAnet |
0‑L | 63446 | Acrocapitofemoral dysplasia | ORPHAnet |
0‑L | 634461 | Mosaic neurofibromatosis type 1 | ORPHAnet |
0‑L | 634475 | Mosaic NF2-related schwannomatosis | ORPHAnet |
0‑L | 634492 | Mosaic schwannomatosis | ORPHAnet |
0‑L | 634511 | Mosaic Legius syndrome | ORPHAnet |
0‑L | 63455 | Paraneoplastic pemphigus | ORPHAnet |
0‑L | 635 | Neuroblastoma | ORPHAnet |
0‑L | 636 | Neurofibromatosis type 1 | ORPHAnet |
0‑L | 636941 | Vascular Ehlers-Danlos-polymicrogyria syndrome | ORPHAnet |
0‑L | 636945 | Invasive Candidiasis | ORPHAnet |
0‑L | 636950 | Glaucomatocyclitic crisis disease | ORPHAnet |
0‑L | 636955 | Endemic pemphigus foliaceus | ORPHAnet |
0‑L | 636965 | Autosomal dominant myosin storage myopathy | ORPHAnet |
0‑L | 636970 | Autosomal recessive myosin storage myopathy | ORPHAnet |
0‑L | 637 | Full NF2-related schwannomatosis | ORPHAnet |
0‑L | 637013 | SMARCA2-related blepharophimosis-intellectual disability syndrome | ORPHAnet |
0‑L | 637051 | Borna virus encephalitis | ORPHAnet |
0‑L | 637061 | Isolated optic nerve hypoplasia | ORPHAnet |
0‑L | 637064 | Isolated optic nerve aplasia | ORPHAnet |
0‑L | 638 | Neurofibromatosis-Noonan syndrome | ORPHAnet |
0‑L | 63862 | Schisis association | ORPHAnet |
0‑L | 639 | Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG | ORPHAnet |
0‑L | 63999 | IgG4-related mediastinitis | ORPHAnet |
0‑L | 64 | Alström syndrome | ORPHAnet |
0‑L | 640 | Hereditary neuropathy with liability to pressure palsies | ORPHAnet |
0‑L | 641 | Multifocal motor neuropathy | ORPHAnet |
0‑L | 641350 | Immunotherapy induced hypophysitis | ORPHAnet |
0‑L | 641353 | Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome | ORPHAnet |
0‑L | 641361 | Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome | ORPHAnet |
0‑L | 641368 | Autosomal recessive hyper-IgE syndrome | ORPHAnet |
0‑L | 641372 | B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2) | ORPHAnet |
0‑L | 641375 | B-lymphoblastic leukemia/lymphoma with t(17;19) | ORPHAnet |
0‑L | 641380 | PAPASH syndrome | ORPHAnet |
0‑L | 641385 | PASS syndrome | ORPHAnet |
0‑L | 641390 | PsAPASH syndrome | ORPHAnet |
0‑L | 641396 | Central nervous system tuberculosis | ORPHAnet |
0‑L | 641496 | Childhood-onset schizophrenia | ORPHAnet |
0‑L | 641829 | Neonatal compartment syndrome | ORPHAnet |
0‑L | 642 | Hereditary sensory and autonomic neuropathy type 4 | ORPHAnet |
0‑L | 642071 | Primary pulmonary vein stenosis | ORPHAnet |
0‑L | 642085 | Spondyloepimetaphyseal dysplasia with joint laxity, EXOC6B type | ORPHAnet |
0‑L | 642099 | Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type | ORPHAnet |
0‑L | 642671 | Familial hyperaldosteronism type IV | ORPHAnet |
0‑L | 642675 | CHD8 overgrowth syndrome | ORPHAnet |
0‑L | 642691 | Fragile X-associated primary ovarian insufficiency | ORPHAnet |
0‑L | 642747 | PUM1-related cerebellar ataxia | ORPHAnet |
0‑L | 642763 | Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation | ORPHAnet |
0‑L | 642788 | Cushing syndrome due to cortisol-producing adrenocortical adenoma | ORPHAnet |
0‑L | 64280 | Childhood absence epilepsy | ORPHAnet |
0‑L | 642945 | Perrault syndrome type 1 | ORPHAnet |
0‑L | 642954 | Autosomal recessive ataxia due to PEX16 deficiency | ORPHAnet |
0‑L | 642965 | Autosomal recessive ataxia due to PEX2 deficiency | ORPHAnet |
0‑L | 642976 | Perrault syndrome type 2 | ORPHAnet |
0‑L | 643 | Giant axonal neuropathy | ORPHAnet |
0‑L | 643503 | Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome | ORPHAnet |
0‑L | 643538 | Hao-Fountain syndrome due to USP7 mutation | ORPHAnet |
0‑L | 643549 | Hao-Fountain syndrome | ORPHAnet |
0‑L | 644 | NARP syndrome | ORPHAnet |
0‑L | 645188 | Spinal dermal sinus | ORPHAnet |
0‑L | 645285 | Chaotic conus spinal cord lipoma | ORPHAnet |
0‑L | 645288 | Terminal extramedullary conus spinal cord lipoma | ORPHAnet |
0‑L | 645291 | Transitional extramedullary conus spinal cord lipoma | ORPHAnet |
0‑L | 645294 | Posterior extramedullary conus spinal cord lipoma | ORPHAnet |
0‑L | 645297 | Extramedullary conus spinal cord lipoma | ORPHAnet |
0‑L | 645300 | Lipomatous non-saccular limited dorsal myeloschisis | ORPHAnet |
0‑L | 645310 | Fibroneural non-saccular limited dorsal myeloschisis | ORPHAnet |
0‑L | 645322 | Isolated transitional filum lipoma | ORPHAnet |
0‑L | 645325 | Isolated filum lipoma | ORPHAnet |
0‑L | 645334 | Retained medullary cord | ORPHAnet |
0‑L | 645337 | Terminal myelocystocele | ORPHAnet |
0‑L | 645340 | Non-terminal myelocystocele | ORPHAnet |
0‑L | 645343 | Non-saccular limited dorsal myeloschisis | ORPHAnet |
0‑L | 645350 | Segmental arterial mediolysis | ORPHAnet |
0‑L | 645354 | Saccular limited dorsal myeloschisis | ORPHAnet |
0‑L | 645359 | Intramedullary non-dysraphic spinal cord lipoma | ORPHAnet |
0‑L | 645362 | Dorsal spinal cord lipoma | ORPHAnet |
0‑L | 645378 | Myelic limited dorsal malformation | ORPHAnet |
0‑L | 645383 | True myelomeningocele | ORPHAnet |
0‑L | 645388 | Hemi-myelomeningocele | ORPHAnet |
0‑L | 645393 | Hemi-myeloschisis | ORPHAnet |
0‑L | 645398 | Myeloschisis | ORPHAnet |
0‑L | 645401 | True myeloschisis | ORPHAnet |
0‑L | 64542 | Acrofacial dysostosis, Kennedy-Teebi type | ORPHAnet |
0‑L | 64545 | Benign idiopathic neonatal seizures | ORPHAnet |
0‑L | 645613 | Classical dermatomyositis | ORPHAnet |
0‑L | 645617 | Amyopathic dermatomyositis | ORPHAnet |
0‑L | 645626 | Adermatopathic dermatomyositis | ORPHAnet |
0‑L | 645749 | Congenital esophageal stenosis | ORPHAnet |
0‑L | 645793 | Spontaneous intestinal perforation | ORPHAnet |
0‑L | 645807 | Primary tuberculous lymphadenitis | ORPHAnet |
0‑L | 645814 | Primary pulmonary tuberculosis | ORPHAnet |
0‑L | 645822 | Primary bone and joint tuberculosis | ORPHAnet |
0‑L | 645849 | Primary cutaneous tuberculosis | ORPHAnet |
0‑L | 645854 | Multifocal tuberculosis | ORPHAnet |
0‑L | 645859 | Primary tuberculosis of the digestive system | ORPHAnet |
0‑L | 645874 | Primary genito-urinary tuberculosis | ORPHAnet |
0‑L | 646 | Niemann-Pick disease type C | ORPHAnet |
0‑L | 646113 | Intermediate collagen VI-related muscular dystrophy | ORPHAnet |
0‑L | 646136 | Dysplastic cortical hyperostosis, Al-Gazali type | ORPHAnet |
0‑L | 646139 | Dysplastic cortical hyperostosis | ORPHAnet |
0‑L | 646278 | CDK13-related congenital heart defects-intellectual disability-facial dysmorphism syndrome | ORPHAnet |
0‑L | 64686 | Tolosa-Hunt syndrome | ORPHAnet |
0‑L | 64692 | Oroya fever | ORPHAnet |
0‑L | 64694 | Trench fever | ORPHAnet |
0‑L | 647 | Nijmegen breakage syndrome | 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 | 647667 | Mandibuloacral dysplasia associated to MTX2 | ORPHAnet |
0‑L | 647676 | Multiple epiphyseal dysplasia type 7 | ORPHAnet |
0‑L | 647681 | Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome | ORPHAnet |
0‑L | 647772 | Isolated primary pigmented nodular adrenocortical disease | ORPHAnet |
0‑L | 647782 | Isolated micronodular adrenocortical disease | ORPHAnet |
0‑L | 647788 | Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome | ORPHAnet |
0‑L | 647794 | Isolated persistent urogenital sinus | ORPHAnet |
0‑L | 647799 | MYT1L-related developmental delay-intellectual disability-obesity syndrome | ORPHAnet |
0‑L | 647804 | Combined immunodeficiency due to FCHO1 deficiency | ORPHAnet |
0‑L | 647811 | Cardiac-urogenital syndrome | ORPHAnet |
0‑L | 647815 | Keratoendotheliitis fugax hereditaria | ORPHAnet |
0‑L | 647823 | Idiopathic pregnancy-associated osteoporosis | ORPHAnet |
0‑L | 647834 | SLC40A1-related hemochromatosis | ORPHAnet |
0‑L | 647916 | Conjoined twins | ORPHAnet |
0‑L | 648 | Noonan syndrome | ORPHAnet |
0‑L | 648562 | Ferroportin Disease | ORPHAnet |
0‑L | 648581 | Digenic hemochromatosis | ORPHAnet |
0‑L | 648665 | Infectious scleritis | ORPHAnet |
0‑L | 648675 | Idiopathic scleritis | ORPHAnet |
0‑L | 648681 | Immune-mediated scleritis | ORPHAnet |
0‑L | 648684 | Central retinal artery occlusion | ORPHAnet |
0‑L | 648919 | Idiopathic catatonia | ORPHAnet |
0‑L | 648992 | Non-syndromic bridging bronchus | ORPHAnet |
0‑L | 649 | Norrie disease | ORPHAnet |
0‑L | 649010 | Non-syndromic congenital bronchial atresia | ORPHAnet |
0‑L | 649029 | Isolated left bronchial isomerism | ORPHAnet |
0‑L | 65 | Leber congenital amaurosis | ORPHAnet |
0‑L | 650 | LCAT deficiency | ORPHAnet |
0‑L | 650077 | Genetic central precocious puberty in female | ORPHAnet |
0‑L | 650082 | Secondary central precocious puberty in female | ORPHAnet |
0‑L | 650087 | Primary central precocious puberty in male | ORPHAnet |
0‑L | 650092 | Secondary central precocious puberty in male | ORPHAnet |
0‑L | 650097 | Genetic central precocious puberty in male | ORPHAnet |
0‑L | 650102 | Non-genetic central precocious puberty in male | ORPHAnet |
0‑L | 652 | Multiple endocrine neoplasia type 1 | 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 | 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 | 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 | 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 | 66518 | Short fifth metacarpals-insulin resistance syndrome | ORPHAnet |
0‑L | 66529 | Tako-Tsubo cardiomyopathy | ORPHAnet |
0‑L | 666 | Osteogenesis imperfecta | 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 | 667 | Autosomal recessive malignant osteopetrosis | ORPHAnet |
0‑L | 668 | Osteosarcoma | ORPHAnet |
0‑L | 67 | Amoebiasis due to Entamoeba histolytica | 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 | 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 | 68 | Amoebiasis due to free-living amoebae | 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 | 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 | PAPA 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 | 699 | Pearson syndrome | ORPHAnet |
0‑L | 7 | 3C syndrome | ORPHAnet |
0‑L | 70 | Proximal spinal muscular atrophy | 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 | 70472 | Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type | ORPHAnet |
0‑L | 70475 | Radiation proctitis | ORPHAnet |
0‑L | 70476 | Vernal keratoconjunctivitis | ORPHAnet |
0‑L | 705 | Pendred syndrome | 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 | 707 | Plague | ORPHAnet |
0‑L | 708 | Peters anomaly | ORPHAnet |
0‑L | 709 | Peters plus syndrome | ORPHAnet |
0‑L | 71 | Chylomicron retention disease | ORPHAnet |
0‑L | 710 | Pfeiffer syndrome | ORPHAnet |
0‑L | 712 | Hemolytic anemia due to glucophosphate isomerase deficiency | 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 | 713 | Glycogen storage disease due to phosphoglycerate kinase 1 deficiency | ORPHAnet |
0‑L | 714 | Hemolytic anemia due to diphosphoglycerate mutase deficiency | ORPHAnet |
0‑L | 71493 | Familial thrombocytosis | ORPHAnet |
0‑L | 715 | Glycogen storage disease due to muscle phosphorylase kinase deficiency | 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 | 716 | Phenylketonuria | ORPHAnet |
0‑L | 718 | Isolated Pierre Robin syndrome | ORPHAnet |
0‑L | 72 | Angelman 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 | 73 | Gorham-Stout disease | 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 | 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 | 733 | Familial adenomatous polyposis | ORPHAnet |
0‑L | 734 | Alpha delta granule deficiency | ORPHAnet |
0‑L | 73423 | Acute ackee fruit intoxication | 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 | 74 | Angiostrongyliasis | 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 difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency | 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 | 753 | 46,XY difference of sex development due to 5-alpha-reductase 2 deficiency | 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 | 755 | Leydig cell hypoplasia | 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 | 756 | Pseudohypoaldosteronism type 1 | ORPHAnet |
0‑L | 757 | Pseudohypoaldosteronism type 2 | ORPHAnet |
0‑L | 758 | Pseudoxanthoma elasticum | 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 | 76 | Strongyloidiasis | 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 | 77258 | Trichorhinophalangeal syndrome type 1 | 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 | 773 | Refsum disease | 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 | 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 | 78 | Ankylostomiasis | 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 | 79 | Congenital alpha2-antiplasmin deficiency | ORPHAnet |
0‑L | 790 | Retinoblastoma | 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 | 791 | Retinitis pigmentosa | 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 | 792 | X-linked retinoschisis | ORPHAnet |
0‑L | 79230 | HJV or HAMP-related hemochromatosis | 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 | Congenital glucokinase-related hyperinsulinism | ORPHAnet |
0‑L | 793 | SAPHO syndrome | 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 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 | 794 | Saethre-Chotzen syndrome | 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 | 796 | Sandhoff disease | 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 | 797 | Sarcoidosis | ORPHAnet |
0‑L | 798 | Schinzel-Giedion syndrome | ORPHAnet |
0‑L | 799 | Schizencephaly | ORPHAnet |
0‑L | 8 | 47,XYY syndrome | ORPHAnet |
0‑L | 80 | Antiphospholipid syndrome | 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 | 81 | Antisynthetase syndrome | 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 | 82 | Hereditary thrombophilia due to congenital antithrombin deficiency | 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 | 83 | Antley-Bixler syndrome | 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 | 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 | 834 | Free sialic acid storage disease | 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 | T-cell immunodeficiency with 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 | 838 | Susac syndrome | ORPHAnet |
0‑L | 839 | Congenital nephrotic syndrome, Finnish type | ORPHAnet |
0‑L | 84 | Fanconi anemia | ORPHAnet |
0‑L | 840 | Syringocystadenoma papilliferum | 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 | 841 | Sebocystomatosis | ORPHAnet |
0‑L | 84132 | Desmin-related myopathy with Mallory body-like inclusions | ORPHAnet |
0‑L | 84142 | Isaacs syndrome | 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 | 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 | 852 | X-linked thrombocytopenia with normal platelets | 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 | 853 | Fetal and neonatal alloimmune thrombocytopenia | 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 | 854 | Primitive portal vein thrombosis | 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 | 857 | Townes-Brocks syndrome | ORPHAnet |
0‑L | 858 | Congenital toxoplasmosis | ORPHAnet |
0‑L | 859 | Transcobalamin deficiency | ORPHAnet |
0‑L | 86 | Familial abdominal aortic aneurysm | 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 | 86309 | DPAGT1-CDG | ORPHAnet |
0‑L | 864 | Trichofolliculoma | ORPHAnet |
0‑L | 867 | Familial multiple trichoepithelioma | 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 | 868 | Triose phosphate-isomerase deficiency | 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 | Blastic plasmacytoid dendritic cell 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 | 869 | Triple A syndrome | 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-primary pulmonary hypertension 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 | 87 | Apert 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 | 87503 | Mal de Meleda | ORPHAnet |
0‑L | 876 | Yolk sac tumor | ORPHAnet |
0‑L | 87876 | Sialidosis type 2 | ORPHAnet |
0‑L | 87884 | Non-syndromic genetic deafness | ORPHAnet |
0‑L | 879 | Tungiasis | ORPHAnet |
0‑L | 88 | Idiopathic aplastic anemia | 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 | 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 | 887 | VACTERL/VATER association | ORPHAnet |
0‑L | 888 | Van der Woude syndrome | ORPHAnet |
0‑L | 889 | Cutaneous small vessel vasculitis | 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 | 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 | 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 | 899 | Walker-Warburg syndrome | 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 | 9 | Tetrasomy X | ORPHAnet |
0‑L | 90 | Argininemia | ORPHAnet |
0‑L | 900 | Granulomatosis with polyangiitis | 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 | Sudden sensorineural hearing loss | 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 | 901 | Wells 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 | 902 | Werner syndrome | 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 | 903 | Von Willebrand disease | 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 | 904 | Williams syndrome | ORPHAnet |
0‑L | 90400 | Scleromyxedema without monoclonal gammopathy | ORPHAnet |
0‑L | 905 | Wilson disease | ORPHAnet |
0‑L | 906 | Wiskott-Aldrich syndrome | ORPHAnet |
0‑L | 90625 | Rare X-linked non-syndromic sensorineural deafness type DFN | ORPHAnet |
0‑L | 90635 | Rare autosomal dominant non-syndromic sensorineural deafness type DFNA | ORPHAnet |
0‑L | 90636 | Rare autosomal recessive non-syndromic sensorineural deafness type DFNB | ORPHAnet |
0‑L | 90641 | Rare 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 difference of sex development due to isolated 17,20-lyase deficiency | ORPHAnet |
0‑L | 90797 | Partial androgen insensitivity syndrome | ORPHAnet |
0‑L | 908 | Fragile X syndrome | ORPHAnet |
0‑L | 909 | Cerebrotendinous xanthomatosis | ORPHAnet |
0‑L | 91 | Aromatase deficiency | ORPHAnet |
0‑L | 910 | Xeroderma pigmentosum | ORPHAnet |
0‑L | 911 | Combined immunodeficiency due to ZAP70 deficiency | 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 | 912 | Zellweger syndrome | ORPHAnet |
0‑L | 913 | Zollinger-Ellison syndrome | 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 | 915 | Aarskog-Scott syndrome | ORPHAnet |
0‑L | 91500 | Tubulointerstitial nephritis and uveitis syndrome | ORPHAnet |
0‑L | 91546 | Lyme disease | ORPHAnet |
0‑L | 91547 | Relapsing fever | ORPHAnet |
0‑L | 916 | Aase-Smith syndrome | ORPHAnet |
0‑L | 920 | Ablepharon macrostomia syndrome | ORPHAnet |
0‑L | 92050 | Congenital tufting enteropathy | 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 | 93 | Aspartylglucosaminuria | ORPHAnet |
0‑L | 930 | Idiopathic achalasia | ORPHAnet |
0‑L | 931 | Acheiropodia | 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 | 932 | Achondrogenesis | 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 and/or hallux | 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 | 93360 | Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type | 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 | 935 | Short-limb skeletal dysplasia with severe combined immunodeficiency | 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 | 939 | 3-hydroxyisobutyric aciduria | ORPHAnet |
0‑L | 93921 | Full 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 | Open spinal dysraphism with a 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 | 941 | D-glyceric aciduria | 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 | 943 | Malonic aciduria | ORPHAnet |
0‑L | 945 | Acalvaria | ORPHAnet |
0‑L | 949 | Acrocraniofacial dysostosis | ORPHAnet |
0‑L | 95 | Friedreich ataxia | ORPHAnet |
0‑L | 950 | Acrodysostosis | ORPHAnet |
0‑L | 95159 | Hepatoerythropoietic porphyria | ORPHAnet |
0‑L | 952 | Acrofacial dysostosis, Weyers type | 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 | 955 | Hajdu-Cheney 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 | 957 | Acropectorovertebral dysplasia | 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 | 958 | Acro-renal-mandibular syndrome | ORPHAnet |
0‑L | 95854 | Levocardia | ORPHAnet |
0‑L | 959 | Acro-renal-ocular syndrome | ORPHAnet |
0‑L | 96 | Ataxia with vitamin E deficiency | 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 duplication 1p36 | ORPHAnet |
0‑L | 96070 | Distal duplication 2p | ORPHAnet |
0‑L | 96071 | Distal duplication 3p | ORPHAnet |
0‑L | 96072 | 4p16.3 microduplication syndrome | ORPHAnet |
0‑L | 96074 | Distal duplication 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 duplication 2q | ORPHAnet |
0‑L | 96095 | 3q26 microduplication syndrome | ORPHAnet |
0‑L | 96096 | Distal duplication 4q | ORPHAnet |
0‑L | 96097 | Distal duplication 5q | ORPHAnet |
0‑L | 96098 | Distal duplication 6q | ORPHAnet |
0‑L | 96100 | Distal duplication 8q | ORPHAnet |
0‑L | 96101 | Distal duplication 9q | ORPHAnet |
0‑L | 96102 | Distal duplication 10q | ORPHAnet |
0‑L | 96103 | Distal duplication 11q | ORPHAnet |
0‑L | 96105 | Distal duplication 13q | ORPHAnet |
0‑L | 96106 | Distal duplication 16q | ORPHAnet |
0‑L | 96107 | Distal duplication 20q | ORPHAnet |
0‑L | 96109 | Distal duplication 22q | ORPHAnet |
0‑L | 96112 | Non-distal duplication 9q | ORPHAnet |
0‑L | 96121 | 7q11.23 microduplication syndrome | ORPHAnet |
0‑L | 96123 | Monosomy 22 | ORPHAnet |
0‑L | 96125 | Distal deletion 6p | ORPHAnet |
0‑L | 96126 | Distal deletion 7p | ORPHAnet |
0‑L | 96129 | Distal deletion 19p | ORPHAnet |
0‑L | 96145 | Distal deletion 4q | ORPHAnet |
0‑L | 96147 | Kleefstra syndrome due to 9q34 microdeletion | ORPHAnet |
0‑L | 96148 | Distal deletion 10q | ORPHAnet |
0‑L | 96149 | Distal deletion 12q | ORPHAnet |
0‑L | 96150 | Distal deletion 14q | ORPHAnet |
0‑L | 96160 | Non-distal deletion 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 | 963 | Acromegaly | ORPHAnet |
0‑L | 96334 | Kagami-Ogata syndrome due to paternal uniparental disomy of chromosome 14 | ORPHAnet |
0‑L | 968 | Acromesomelic dysplasia, Hunter-Thompson type | ORPHAnet |
0‑L | 969 | Acromicric dysplasia | ORPHAnet |
0‑L | 97 | Familial paroxysmal ataxia | 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 | 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 | 973 | Congenital absence/hypoplasia of fingers excluding thumb, unilateral | 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 | 974 | Adams-Oliver syndrome | 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 | 976 | Adenine phosphoribosyltransferase deficiency | ORPHAnet |
0‑L | 97678 | Maternal uniparental disomy of chromosome 13 | ORPHAnet |
0‑L | 97685 | 17q11 microdeletion syndrome | ORPHAnet |
0‑L | 977 | Adrenomyodystrophy | ORPHAnet |
0‑L | 978 | ADULT syndrome | ORPHAnet |
0‑L | 98 | Autosomal recessive spastic ataxia of Charlevoix-Saguenay | ORPHAnet |
0‑L | 980 | Absence of the pulmonary artery | ORPHAnet |
0‑L | 981 | Internal carotid absence | ORPHAnet |
0‑L | 98267 | Genetic non-syndromic obesity | ORPHAnet |
0‑L | 983 | Testicular regression syndrome | ORPHAnet |
0‑L | 984 | Pulmonary agenesis | 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 | 988 | Tibial hemimelia-polysyndactyly-triphalangeal thumb syndrome | 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 | 989 | Hypoglossia-hypodactyly syndrome | 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 | 990 | Agnathia-holoprosencephaly-situs inversus syndrome | 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 | 991 | PAGOD syndrome | 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 | 99126 | Congenital pulmonary vein atresia | 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 | 994 | Fetal akinesia deformation sequence | 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 | 998 | Albinism-deafness syndrome | 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 | 999 | Ermine phenotype | 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 |
|