TaoMedAI/RareMedData huggingface dataset:
ORPHA:293144 — Familial clubfoot due to 5q31 microdeletion (OMIM: OMIM:119800)
ORPHA:293150 — Familial clubfoot due to PITX1 point mutation (OMIM: OMIM:119800)
ORPHA:293168 — Infantile-onset ascending hereditary spastic paralysis (OMIM: OMIM:607225)
ORPHA:293181 — Epilepsy of infancy with migrating focal seizures (OMIM: OMIM:613722, OMIM:614959, OMIM:615338, OMIM:616645)
ORPHA:293381 — Epithelial recurrent erosion dystrophy (OMIM: OMIM:122400)
ORPHA:2934 — Polysyndactyly-cardiac malformation syndrome (OMIM: OMIM:263630)
ORPHA:2935 — Crossed polysyndactyly (OMIM: OMIM:175690)
ORPHA:293603 — Congenital hereditary endothelial dystrophy type II (OMIM: OMIM:217700)
ORPHA:293621 — X-linked endothelial corneal dystrophy (OMIM: OMIM:300779)
ORPHA:293633 — PYCR1-related De Barsy syndrome (OMIM: OMIM:614438)
ORPHA:293707 — Blepharophimosis-intellectual disability syndrome, MKB type (OMIM: OMIM:300895)
ORPHA:293725 — Blepharophimosis-intellectual disability syndrome, Verloes type (OMIM: OMIM:604314)
ORPHA:293822 — MITF-related melanoma and renal cell carcinoma predisposition syndrome (OMIM: OMIM:614456)
ORPHA:293825 — Congenital dyserythropoietic anemia type IV (OMIM: OMIM:613673)
ORPHA:293843 — 3MC syndrome (OMIM: OMIM:248340, OMIM:257920, OMIM:265050)
ORPHA:293864 — Hypoplastic pancreas-intestinal atresia-hypoplastic gallbladder syndrome (OMIM: OMIM:615710)
ORPHA:293888 — Inherited isolated arrhythmogenic cardiomyopathy, dominant-left variant (OMIM: OMIM:107970, OMIM:610193)
ORPHA:293899 — Inherited isolated arrhythmogenic ventricular dysplasia, biventricular variant (OMIM: OMIM:107970, OMIM:610193)
ORPHA:293910 — Inherited isolated arrhythmogenic cardiomyopathy, dominant-right variant (OMIM: OMIM:618920, OMIM:600996, OMIM:615616, OMIM:610193, OMIM:107970)
ORPHA:293925 — Lethal occipital encephalocele-skeletal dysplasia syndrome (OMIM: OMIM:614416)
ORPHA:293936 — EDICT syndrome (OMIM: OMIM:614303)
ORPHA:293939 — Distal Xq28 microduplication syndrome (OMIM: OMIM:300815)
ORPHA:293955 — Childhood encephalopathy due to thiamine pyrophosphokinase deficiency (OMIM: OMIM:614458)
ORPHA:293958 — Hypertelorism-preauricular sinus-punctual pits-deafness syndrome (OMIM: OMIM:614187)
ORPHA:293964 — Hypoinsulinemic hypoglycemia and body hemihypertrophy (OMIM: OMIM:240900)
ORPHA:293978 — Deficiency in anterior pituitary function-variable immunodeficiency syndrome (OMIM: OMIM:615577)
ORPHA:2940 — Porencephaly (OMIM: OMIM:175780, OMIM:614483)
ORPHA:294016 — Microcephaly-capillary malformation syndrome (OMIM: OMIM:614261)
ORPHA:294023 — Neonatal inflammatory skin and bowel disease (OMIM: OMIM:614328, OMIM:616069)
ORPHA:294026 — Syndactyly-nystagmus syndrome due to 2q31.1 microduplication (OMIM: OMIM:613681)
ORPHA:2941 — Porencephaly-cerebellar hypoplasia-internal malformations syndrome (OMIM: OMIM:601322)
ORPHA:294415 — Renal-hepatic-pancreatic dysplasia (OMIM: OMIM:208540, OMIM:615415)
ORPHA:2946 — Brachydactyly-long thumb syndrome (OMIM: OMIM:112430)
ORPHA:2947 — Triphalangeal thumbs-brachyectrodactyly syndrome (OMIM: OMIM:190680)
ORPHA:295000 — Amniotic band syndrome (OMIM: OMIM:217100)
ORPHA:295016 — Camptodactyly of fingers (OMIM: OMIM:114200)
ORPHA:2951 — Absent thumb-short stature-immunodeficiency syndrome (OMIM: OMIM:274190)
ORPHA:295187 — Zygodactyly type 1 (OMIM: OMIM:609815)
ORPHA:295195 — Synpolydactyly type 1 (OMIM: OMIM:186000)
ORPHA:295197 — Synpolydactyly type 2 (OMIM: OMIM:608180)
ORPHA:295199 — Synpolydactyly type 3 (OMIM: OMIM:610234)
ORPHA:2952 — Adducted thumbs-arthrogryposis syndrome, Christian type (OMIM: OMIM:201550)
ORPHA:295201 — Congenital vertical talus, unilateral (OMIM: OMIM:192950)
ORPHA:295203 — Congenital vertical talus, bilateral (OMIM: OMIM:192950)
ORPHA:2953 — Musculocontractural Ehlers-Danlos syndrome (OMIM: OMIM:601776, OMIM:615539)
ORPHA:2957 — Guttmacher syndrome (OMIM: OMIM:176305)
ORPHA:2958 — X-linked intellectual disability-dysmorphism-cerebral atrophy syndrome (OMIM: OMIM:309610)
ORPHA:2959 — Progeria-short stature-pigmented nevi syndrome (OMIM: OMIM:176690)
ORPHA:296 — Ollier disease (OMIM: OMIM:166000)
ORPHA:2962 — De Barsy syndrome (OMIM: OMIM:219150, OMIM:614438)
ORPHA:2963 — Progeroid syndrome, Petty type (OMIM: OMIM:612289)
ORPHA:2964 — Autosomal dominant prognathism (OMIM: OMIM:176700)
ORPHA:2966 — Properdin deficiency (OMIM: OMIM:312060)
ORPHA:2967 — Transcobalamin I deficiency (OMIM: OMIM:193090)
ORPHA:2968 — Leukocyte adhesion deficiency (OMIM: OMIM:612840, OMIM:116920, OMIM:266265)
ORPHA:2969 — Proteus-like syndrome (OMIM: OMIM:158350)
ORPHA:2970 — Prune belly syndrome (OMIM: OMIM:100100)
ORPHA:2971 — Peroxisomal acyl-CoA oxidase deficiency (OMIM: OMIM:264470)
ORPHA:2972 — Non-eruption of teeth-maxillary hypoplasia-genu valgum syndrome (OMIM: OMIM:273050)
ORPHA:2975 — 46,XX difference of sex development-skeletal anomalies syndrome (OMIM: OMIM:264270)
ORPHA:2976 — Pseudoleprechaunism syndrome, Patterson type (OMIM: OMIM:169170)
ORPHA:2978 — Chronic intestinal pseudoobstruction (OMIM: OMIM:243180, OMIM:300048, OMIM:601223, OMIM:609629)
ORPHA:298 — Mitochondrial neurogastrointestinal encephalomyopathy (OMIM: OMIM:603041, OMIM:612075, OMIM:613662, OMIM:619780)
ORPHA:2980 — Acrootoocular syndrome (OMIM: OMIM:264475)
ORPHA:2983 — Difference of sex development-intellectual disability syndrome (OMIM: OMIM:600122)
ORPHA:2985 — Pseudoprogeria syndrome (OMIM: OMIM:200130)
ORPHA:2987 — Antecubital pterygium syndrome (OMIM: OMIM:178200)
ORPHA:2988 — Pterygium colli-intellectual disability-digital anomalies syndrome (OMIM: OMIM:600159)
ORPHA:2989 — Familial pterygium of the conjunctiva (OMIM: OMIM:178000)
ORPHA:2990 — Autosomal recessive multiple pterygium syndrome (OMIM: OMIM:618469, OMIM:265000)
ORPHA:2994 — Short stature-craniofacial anomalies-genital hypoplasia syndrome (OMIM: OMIM:177980)
ORPHA:2995 — Baraitser-Winter cerebrofrontofacial syndrome (OMIM: OMIM:243310, OMIM:614583)
ORPHA:2997 — Ptosis-vocal cord paralysis syndrome (OMIM: OMIM:193240)
ORPHA:2999 — Ptosis-strabismus-ectopic pupils syndrome (OMIM: OMIM:178330)
ORPHA:30 — Hereditary orotic aciduria (OMIM: OMIM:258900)
ORPHA:300 — Bifunctional enzyme deficiency (OMIM: OMIM:261515)
ORPHA:3000 — Familial peripheral male-limited precocious puberty (OMIM: OMIM:176410)
ORPHA:300179 — Kyphoscoliotic Ehlers-Danlos syndrome due to FKBP22 deficiency (OMIM: OMIM:614557)
ORPHA:3002 — Immune thrombocytopenia (OMIM: OMIM:188030)
ORPHA:300284 — Connective tissue disorder due to lysyl hydroxylase-3 deficiency (OMIM: OMIM:612394)
ORPHA:300293 — Transient infantile hypertriglyceridemia and hepatosteatosis (OMIM: OMIM:619324, OMIM:614480)
ORPHA:300298 — Severe congenital hypochromic anemia with ringed sideroblasts (OMIM: OMIM:615234)
ORPHA:3003 — Pyknoachondrogenesis (OMIM: OMIM:265880)
ORPHA:300313 — Congenital cataract-hearing loss-severe developmental delay syndrome (OMIM: OMIM:614482)
ORPHA:300319 — Charcot-Marie-Tooth disease type 2P (OMIM: OMIM:614436)
ORPHA:300324 — Persistent polyclonal B-cell lymphocytosis (OMIM: OMIM:606445)
ORPHA:300333 — Nephrotic syndrome-epidermolysis bullosa-sensorineural deafness syndrome (OMIM: OMIM:609057)
ORPHA:300345 — Autosomal systemic lupus erythematosus (OMIM: OMIM:614420)
ORPHA:300359 — PLCG2-associated antibody deficiency and immune dysregulation (OMIM: OMIM:614468)
ORPHA:300373 — X-linked acrogigantism (OMIM: OMIM:300942)
ORPHA:300382 — Progeroid and marfanoid aspect-lipodystrophy syndrome (OMIM: OMIM:616914)
ORPHA:300496 — Multiple congenital anomalies-hypotonia-seizures syndrome type 2 (OMIM: OMIM:300868)
ORPHA:3005 — Pyle disease (OMIM: OMIM:265900)
ORPHA:300525 — Pseudohypoaldosteronism type 2D (OMIM: OMIM:614495)
ORPHA:300530 — Pseudohypoaldosteronism type 2E (OMIM: OMIM:614496)
ORPHA:300536 — DDOST-CDG (OMIM: OMIM:614507)
ORPHA:300547 — Autosomal recessive infantile hypercalcemia (OMIM: OMIM:616963, OMIM:143880)
ORPHA:300570 — Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation (OMIM: OMIM:614039)
ORPHA:300573 — Polymicrogyria due to TUBB2B mutation (OMIM: OMIM:610031)
ORPHA:300576 — Oligodontia-cancer predisposition syndrome (OMIM: OMIM:608615)
ORPHA:3006 — Pyridoxine-dependent epilepsy (OMIM: OMIM:617290, OMIM:266100)
ORPHA:300605 — Juvenile amyotrophic lateral sclerosis (OMIM: OMIM:205100, OMIM:602099, OMIM:614373)
ORPHA:300751 — Familial dilated cardiomyopathy with conduction defect due to LMNA mutation (OMIM: OMIM:115200)
ORPHA:3008 — Pyruvate carboxylase deficiency (OMIM: OMIM:266150)
ORPHA:301 — Ependymal tumor (OMIM: OMIM:137800)
ORPHA:3010 — Qazi-Markouizos syndrome (OMIM: OMIM:600096)
ORPHA:3011 — Spastic tetraplegia-retinitis pigmentosa-intellectual disability syndrome (OMIM: OMIM:270950)
ORPHA:3015 — Radio-renal syndrome (OMIM: OMIM:179280)
ORPHA:3016 — Absent radius-anogenital anomalies syndrome (OMIM: OMIM:312190)
ORPHA:3018 — Retinal ischemic syndrome-digestive tract small vessel hyalinosis-diffuse cerebral calcifications syndrome (OMIM: OMIM:277175)
ORPHA:3019 — Ramon syndrome (OMIM: OMIM:266270)
ORPHA:302 — Inherited epidermodysplasia verruciformis (OMIM: OMIM:305350, OMIM:226400, OMIM:618309, OMIM:618231, OMIM:618267)
ORPHA:3021 — RAPADILINO syndrome (OMIM: OMIM:266280)
ORPHA:3023 — External auditory canal atresia-vertical talus-hypertelorism syndrome (OMIM: OMIM:133705)
ORPHA:3026 — Radial ray hypoplasia-choanal atresia syndrome (OMIM: OMIM:179270)
ORPHA:3027 — Caudal regression syndrome (OMIM: OMIM:600145)
ORPHA:3032 — NPHP3-related Meckel-like syndrome (OMIM: OMIM:267010)
ORPHA:3033 — Renal tubular dysgenesis (OMIM: OMIM:267430)
ORPHA:3034 — Delayed membranous cranial ossification (OMIM: OMIM:155980)
ORPHA:3035 — Growth delay-hydrocephaly-lung hypoplasia syndrome (OMIM: OMIM:236640)
ORPHA:3038 — Delayed speech-facial asymmetry-strabismus-ear lobe creases syndrome (OMIM: OMIM:182875)
ORPHA:30391 — Isolated biliary atresia (OMIM: OMIM:210500)
ORPHA:3041 — Intellectual disability-balding-patella luxation-acromicria syndrome (OMIM: OMIM:300977)
ORPHA:3042 — Intellectual disability-cataracts-calcified pinnae-myopathy syndrome (OMIM: OMIM:259050)
ORPHA:3044 — Intellectual disability-dysmorphism-hypogonadism-diabetes mellitus syndrome (OMIM: OMIM:249599)
ORPHA:3047 — Blepharophimosis-intellectual disability syndrome, SBBYS type (OMIM: OMIM:603736)
ORPHA:3051 — Nicolaides-Baraitser syndrome (OMIM: OMIM:601358)
ORPHA:3052 — X-linked intellectual disability-seizures-psoriasis syndrome (OMIM: OMIM:309480)
ORPHA:3057 — Monoamine oxidase A deficiency (OMIM: OMIM:300615)
ORPHA:306 — Self-limited infantile epilepsy (OMIM: OMIM:601764, OMIM:605751, OMIM:607745, OMIM:612627, OMIM:617080)
ORPHA:3063 — X-linked intellectual disability, Snyder type (OMIM: OMIM:309583)
ORPHA:306504 — Interstitial lung disease-nephrotic syndrome-epidermolysis bullosa syndrome (OMIM: OMIM:614748)
ORPHA:306511 — Autosomal recessive spastic paraplegia type 48 (OMIM: OMIM:613647)
ORPHA:306527 — Isolated hereditary congenital facial paralysis (OMIM: OMIM:601471)
ORPHA:306530 — Congenital hereditary facial paralysis-variable hearing loss syndrome (OMIM: OMIM:604185, OMIM:614744)
ORPHA:306542 — Frontonasal dysplasia-severe microphthalmia-severe facial clefting syndrome (OMIM: OMIM:613456)
ORPHA:306547 — Porencephaly-microcephaly-bilateral congenital cataract syndrome (OMIM: OMIM:613730)
ORPHA:306550 — FADD-related immunodeficiency (OMIM: OMIM:613759)
ORPHA:306558 — Primary microcephaly-epilepsy-permanent neonatal diabetes syndrome (OMIM: OMIM:614231, OMIM:619278)
ORPHA:306577 — Hereditary sodium channelopathy-related small fibers neuropathy (OMIM: OMIM:133020, OMIM:615551)
ORPHA:306658 — Familial normophosphatemic tumoral calcinosis (OMIM: OMIM:610455)
ORPHA:306661 — Familial hyperphosphatemic tumoral calcinosis/Hyperphosphatemic hyperostosis syndrome (OMIM: OMIM:211900, OMIM:617993, OMIM:617994)
ORPHA:306674 — Kufor-Rakeb syndrome (OMIM: OMIM:606693)
ORPHA:306734 — Primary dystonia, DYT21 type (OMIM: OMIM:614588)
ORPHA:3068 — Intellectual disability-myopathy-short stature-endocrine defect syndrome (OMIM: OMIM:253320)
ORPHA:307 — Juvenile myoclonic epilepsy (OMIM: OMIM:254770, OMIM:604827, OMIM:607628, OMIM:607682, OMIM:608816, OMIM:611136, OMIM:611364, OMIM:613060, OMIM:614280, OMIM:617924)
ORPHA:3071 — Costello syndrome (OMIM: OMIM:218040)
ORPHA:3077 — X-linked intellectual disability-psychosis-macroorchidism syndrome (OMIM: OMIM:300055)
ORPHA:307766 — Curly hair-acral keratoderma-caries syndrome (OMIM: OMIM:607656)
ORPHA:3078 — Severe X-linked intellectual disability, Gustavson type (OMIM: OMIM:309555)
ORPHA:3079 — Intellectual disability, Buenos-Aires type (OMIM: OMIM:249630)
ORPHA:307936 — Hypotrichosis-osteolysis-periodontitis-palmoplantar keratoderma syndrome (OMIM: OMIM:607658)
ORPHA:308 — Progressive myoclonic epilepsy type 1 (OMIM: OMIM:254800, OMIM:310370, OMIM:612437)
ORPHA:3080 — Intellectual disability, Wolff type (OMIM: OMIM:277990)
ORPHA:308380 — Methylcobalamin deficiency type cblDv1 (OMIM: OMIM:277410)
ORPHA:308386 — Sulfite oxidase deficiency due to molybdenum cofactor deficiency type A (OMIM: OMIM:252150)
ORPHA:308393 — Sulfite oxidase deficiency due to molybdenum cofactor deficiency type B (OMIM: OMIM:252160)
ORPHA:308400 — Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C (OMIM: OMIM:615501)
ORPHA:308410 — Autism-epilepsy syndrome due to branched chain ketoacid dehydrogenase kinase deficiency (OMIM: OMIM:614923)
ORPHA:308425 — Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency (OMIM: OMIM:251120)
ORPHA:308442 — Vitamin B12-responsive methylmalonic acidemia, type cblDv2 (OMIM: OMIM:277410)
ORPHA:308473 — Erythrocyte galactose epimerase deficiency (OMIM: OMIM:230350)
ORPHA:308487 — Generalized galactose epimerase deficiency (OMIM: OMIM:230350)
ORPHA:3085 — Retinitis pigmentosa-intellectual disability-deafness-hypogonadism syndrome (OMIM: OMIM:268020)
ORPHA:308552 — Glycogen storage disease due to acid maltase deficiency, infantile onset (OMIM: OMIM:232300)
ORPHA:3086 — Autosomal dominant vitreoretinochoroidopathy (OMIM: OMIM:193220)
ORPHA:308621 — Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form (OMIM: OMIM:232500)
ORPHA:308638 — Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form (OMIM: OMIM:232500)
ORPHA:308655 — Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form (OMIM: OMIM:232500)
ORPHA:308670 — Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form (OMIM: OMIM:232500)
ORPHA:308684 — Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form (OMIM: OMIM:232500)
ORPHA:308698 — Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form (OMIM: OMIM:232500)
ORPHA:308712 — Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form (OMIM: OMIM:232500)
ORPHA:3088 — Revesz syndrome (OMIM: OMIM:268130)
ORPHA:309015 — Familial lipoprotein lipase deficiency (OMIM: OMIM:144250, OMIM:238600)
ORPHA:309020 — Familial apolipoprotein C-II deficiency (OMIM: OMIM:207750)
ORPHA:309025 — Mevalonate kinase deficiency (OMIM: OMIM:610377, OMIM:260920)
ORPHA:309031 — Pancreatic triacylglycerol lipase deficiency (OMIM: OMIM:614338)
ORPHA:309108 — Pancreatic colipase deficiency (OMIM: OMIM:614338)
ORPHA:309111 — Combined pancreatic lipase-colipase deficiency (OMIM: OMIM:614338)
ORPHA:309147 — Hyper-beta-alaninemia (OMIM: OMIM:237400)
ORPHA:309155 — Sandhoff disease, infantile form (OMIM: OMIM:268800)
ORPHA:309162 — Sandhoff disease, juvenile form (OMIM: OMIM:268800)
ORPHA:309169 — Sandhoff disease, adult form (OMIM: OMIM:268800)
ORPHA:309178 — Tay-Sachs disease, infantile form (OMIM: OMIM:272800)
ORPHA:309185 — Tay-Sachs disease, juvenile form (OMIM: OMIM:272800)
ORPHA:309192 — Tay-Sachs disease, adult form (OMIM: OMIM:272800)
ORPHA:3092 — Fixed subaortic stenosis (OMIM: OMIM:271950)
ORPHA:30924 — Primary hypomagnesemia with secondary hypocalcemia (OMIM: OMIM:602014)
ORPHA:309246 — GM2 gangliosidosis, AB variant (OMIM: OMIM:272750)
ORPHA:30925 — Hereditary arginine vasopressin deficiency (OMIM: OMIM:125700, OMIM:304900)
ORPHA:309252 — Atypical Gaucher disease due to saposin C deficiency (OMIM: OMIM:610539)
ORPHA:309256 — Metachromatic leukodystrophy, late infantile form (OMIM: OMIM:250100)
ORPHA:309263 — Metachromatic leukodystrophy, juvenile form (OMIM: OMIM:250100)
ORPHA:309271 — Metachromatic leukodystrophy, adult form (OMIM: OMIM:250100)
ORPHA:309282 — Alpha-mannosidosis, infantile form (OMIM: OMIM:248500)
ORPHA:309288 — Alpha-mannosidosis, adult form (OMIM: OMIM:248500)
ORPHA:309297 — Mucopolysaccharidosis type 4A (OMIM: OMIM:253000)
ORPHA:309310 — Mucopolysaccharidosis type 4B (OMIM: OMIM:253010)
ORPHA:309324 — Free sialic acid storage disease, infantile form (OMIM: OMIM:269920)
ORPHA:309331 — Intermediate severe Salla disease (OMIM: OMIM:604369)
ORPHA:309334 — Salla disease (OMIM: OMIM:604369)
ORPHA:3095 — Atypical Rett syndrome (OMIM: OMIM:617904, OMIM:617903, OMIM:300672, OMIM:312750, OMIM:613454)
ORPHA:3097 — Meacham syndrome (OMIM: OMIM:608978)
ORPHA:309789 — Rhizomelic chondrodysplasia punctata type 1 (OMIM: OMIM:215100)
ORPHA:309796 — Rhizomelic chondrodysplasia punctata type 2 (OMIM: OMIM:222765)
ORPHA:3098 — Rhizomelic syndrome, Urbach type (OMIM: OMIM:268250)
ORPHA:309803 — Rhizomelic chondrodysplasia punctata type 3 (OMIM: OMIM:600121)
ORPHA:309854 — Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome (OMIM: OMIM:613280)
ORPHA:3099 — Rheumatic fever (OMIM: OMIM:268240)
ORPHA:31 — Oxoglutaric aciduria (OMIM: OMIM:203740)
ORPHA:3101 — Richieri Costa-da Silva syndrome (OMIM: OMIM:255710)
ORPHA:3102 — Richieri Costa-Pereira syndrome (OMIM: OMIM:268305)
ORPHA:3103 — Roberts syndrome (OMIM: OMIM:268300)
ORPHA:3104 — Robin sequence-oligodactyly syndrome (OMIM: OMIM:172880)
ORPHA:31043 — Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (OMIM: OMIM:248250)
ORPHA:3107 — Autosomal dominant Robinow syndrome (OMIM: OMIM:180700, OMIM:616331, OMIM:616894)
ORPHA:3109 — Mayer-Rokitansky-Küster-Hauser syndrome (OMIM: OMIM:277000, OMIM:601076)
ORPHA:3110 — Rombo syndrome (OMIM: OMIM:180730)
ORPHA:3111 — Rotor syndrome (OMIM: OMIM:237450)
ORPHA:31112 — Dermatofibrosarcoma protuberans (OMIM: OMIM:607907)
ORPHA:3115 — Roussy-Lévy syndrome (OMIM: OMIM:180800)
ORPHA:31150 — Tangier disease (OMIM: OMIM:205400)
ORPHA:312 — Autosomal dominant epidermolytic ichthyosis (OMIM: OMIM:113800, OMIM:620150)
ORPHA:31202 — Melioidosis (OMIM: OMIM:615557)
ORPHA:3121 — Ruvalcaba syndrome (OMIM: OMIM:180870)
ORPHA:3124 — Saccharopinuria (OMIM: OMIM:268700)
ORPHA:3129 — Sarcosinemia (OMIM: OMIM:268900)
ORPHA:313 — Lamellar ichthyosis (OMIM: OMIM:242300, OMIM:601277, OMIM:604777, OMIM:606545, OMIM:612281, OMIM:613943, OMIM:617571)
ORPHA:3130 — Satoyoshi syndrome (OMIM: OMIM:600705)
ORPHA:3132 — Say-Barber-Miller syndrome (OMIM: OMIM:251240)
ORPHA:3134 — SCARF syndrome (OMIM: OMIM:312830)
ORPHA:3137 — Alpha-N-acetylgalactosaminidase deficiency (OMIM: OMIM:609241, OMIM:609242)
ORPHA:313772 — Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome (OMIM: OMIM:614487)
ORPHA:313795 — Jawad syndrome (OMIM: OMIM:251255)
ORPHA:3138 — Ulnar-mammary syndrome (OMIM: OMIM:181450)
ORPHA:313800 — Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome (OMIM: OMIM:614979)
ORPHA:313808 — Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia (OMIM: OMIM:221820)
ORPHA:313838 — Coats plus syndrome (OMIM: OMIM:617341, OMIM:612199)
ORPHA:313846 — Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome (OMIM: OMIM:614564)
ORPHA:313850 — Infantile cerebellar-retinal degeneration (OMIM: OMIM:614559)
ORPHA:313855 — FGFR2-related bent bone dysplasia (OMIM: OMIM:614592)
ORPHA:313884 — 12p12.1 microdeletion syndrome (OMIM: OMIM:616803)
ORPHA:313892 — Developmental and speech delay due to SOX5 deficiency (OMIM: OMIM:616803)
ORPHA:313947 — 2q23.1 microduplication syndrome (OMIM: OMIM:156200)
ORPHA:314 — Erythroderma desquamativum (OMIM: OMIM:609536)
ORPHA:314022 — Gastric adenocarcinoma and proximal polyposis of the stomach (OMIM: OMIM:619182)
ORPHA:314051 — Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome (OMIM: OMIM:614924)
ORPHA:3143 — Autoimmune polyendocrinopathy type 2 (OMIM: OMIM:269200)
ORPHA:314373 — Chronic infantile diarrhea due to guanylate cyclase 2C overactivity (OMIM: OMIM:614616)
ORPHA:314376 — Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency (OMIM: OMIM:614665)
ORPHA:314381 — Hereditary sensory and autonomic neuropathy type 6 (OMIM: OMIM:614653)
ORPHA:314394 — Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome (OMIM: OMIM:614813)
ORPHA:314399 — Autosomal dominant aplasia and myelodysplasia (OMIM: OMIM:614675)
ORPHA:3144 — Schneckenbecken dysplasia (OMIM: OMIM:269250)
ORPHA:314404 — Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome (OMIM: OMIM:604121)
ORPHA:314485 — Young adult-onset distal hereditary motor neuropathy (OMIM: OMIM:619216, OMIM:614881)
ORPHA:3145 — Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome (OMIM: OMIM:221995)
ORPHA:314555 — Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome (OMIM: OMIM:611174)
ORPHA:314585 — 15q overgrowth syndrome (OMIM: OMIM:614846)
ORPHA:314588 — Distal triplication 15q syndrome (OMIM: OMIM:614846)
ORPHA:314597 — Chudley-McCullough syndrome (OMIM: OMIM:604213)
ORPHA:314603 — Autosomal recessive spastic ataxia with leukoencephalopathy (OMIM: OMIM:611390)
ORPHA:314632 — CLN12 disease (OMIM: OMIM:606693)
ORPHA:314637 — Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency (OMIM: OMIM:614702)
ORPHA:314647 — Non-progressive cerebellar ataxia with intellectual disability (OMIM: OMIM:614756)
ORPHA:314652 — Variant ABeta2M amyloidosis (OMIM: OMIM:105200)
ORPHA:314655 — Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion (OMIM: OMIM:616158)
ORPHA:314667 — TMEM165-CDG (OMIM: OMIM:614727)
ORPHA:314679 — Cerebrofacioarticular syndrome (OMIM: OMIM:601390, OMIM:615546)
ORPHA:314689 — Combined immunodeficiency due to STK4 deficiency (OMIM: OMIM:614868)
ORPHA:314701 — Primary systemic amyloidosis (OMIM: OMIM:254500)
ORPHA:314718 — Lethal arteriopathy syndrome due to fibulin-4 deficiency (OMIM: OMIM:614437)
ORPHA:314721 — Atypical dentin dysplasia due to SMOC2 deficiency (OMIM: OMIM:125400)
ORPHA:314777 — Familial isolated pituitary adenoma (OMIM: OMIM:102200)
ORPHA:314795 — SHOX-related short stature (OMIM: OMIM:300582)
ORPHA:314802 — Short stature due to partial GHR deficiency (OMIM: OMIM:604271)
ORPHA:314811 — Short stature due to GHSR deficiency (OMIM: OMIM:615925)
ORPHA:314911 — Severe Canavan disease (OMIM: OMIM:271900)
ORPHA:314918 — Mild Canavan disease (OMIM: OMIM:271900)
ORPHA:314978 — X-linked non progressive cerebellar ataxia (OMIM: OMIM:300703, OMIM:302500)
ORPHA:314993 — Cataract-congenital heart disease-neural tube defect syndrome (OMIM: OMIM:608227)
ORPHA:3152 — Sclerosteosis (OMIM: OMIM:269500, OMIM:614305)
ORPHA:315306 — Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form (OMIM: OMIM:201910)
ORPHA:315311 — Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form (OMIM: OMIM:201910)
ORPHA:3156 — Senior-Loken syndrome (OMIM: OMIM:266900, OMIM:606995, OMIM:606996, OMIM:609254, OMIM:610189, OMIM:613615, OMIM:614845, OMIM:616307, OMIM:616629)
ORPHA:3157 — Septo-optic dysplasia spectrum (OMIM: OMIM:182230)
ORPHA:316 — Progressive symmetric erythrokeratodermia (OMIM: OMIM:619209, OMIM:618531, OMIM:617756)
ORPHA:3163 — SHORT syndrome (OMIM: OMIM:269880)
ORPHA:3164 — Omphalocele syndrome, Shprintzen-Goldberg type (OMIM: OMIM:182210)
ORPHA:3165 — Eosinophilic fasciitis (OMIM: OMIM:226350)
ORPHA:3166 — Sialuria (OMIM: OMIM:269921)
ORPHA:3168 — Sillence syndrome (OMIM: OMIM:113450)
ORPHA:3169 — Sirenomelia (OMIM: OMIM:600145)
ORPHA:317 — Erythrokeratodermia variabilis (OMIM: OMIM:133200, OMIM:617524, OMIM:617525, OMIM:617526)