TaoMedAI/RareMedData huggingface dataset:
ORPHA:52530 — Pseudo-von Willebrand disease (OMIM: OMIM:177820)
ORPHA:526 — Liddle syndrome (OMIM: OMIM:618114, OMIM:618126, OMIM:177200)
ORPHA:52688 — Myelodysplastic syndrome (OMIM: OMIM:614286)
ORPHA:527276 — Encephalopathy due to mitochondrial and peroxisomal fission defect (OMIM: OMIM:614388, OMIM:617086)
ORPHA:527450 — Severe myopia-generalized joint laxity-short stature syndrome (OMIM: OMIM:617662)
ORPHA:527497 — NKX6-2-related autosomal recessive hypomyelinating leukodystrophy (OMIM: OMIM:617560)
ORPHA:528 — Congenital generalized lipodystrophy (OMIM: OMIM:606721, OMIM:613327, OMIM:269700, OMIM:608594, OMIM:612526)
ORPHA:528084 — Non-specific syndromic intellectual disability (OMIM: OMIM:618914, OMIM:618906, OMIM:618659, OMIM:618859, OMIM:618653, OMIM:301029, OMIM:620191, OMIM:618470, OMIM:619758, OMIM:619320, OMIM:619244, OMIM:619314, OMIM:619264, OMIM:619306, OMIM:619268, OMIM:618430, OMIM:619311, OMIM:618009, OMIM:618060, OMIM:620098, OMIM:616083, OMIM:616078, OMIM:617435, OMIM:606053, OMIM:618292, OMIM:618748, OMIM:618342, OMIM:618569, OMIM:619950, OMIM:309590, OMIM:619072, OMIM:619076, OMIM:619056, OMIM:619004, OMIM:618974, OMIM:619149, OMIM:619000, OMIM:619243, OMIM:619083, OMIM:619099, OMIM:619157, OMIM:619239, OMIM:619031, OMIM:619005, OMIM:300978, OMIM:619091, OMIM:619092, OMIM:618971, OMIM:619951, OMIM:618922, OMIM:618512, OMIM:617755, OMIM:619759, OMIM:620065)
ORPHA:528091 — Hydrops-lactic acidosis-sideroblastic anemia-multisystemic failure syndrome (OMIM: OMIM:617021)
ORPHA:528105 — Hypohidrosis-electrolyte imbalance-lacrimal gland dysfunction-ichthyosis-xerostomia syndrome (OMIM: OMIM:617671)
ORPHA:52901 — Isolated follicle stimulating hormone deficiency (OMIM: OMIM:229070)
ORPHA:529574 — Duane retraction syndrome with congenital deafness (OMIM: OMIM:617041)
ORPHA:529665 — Neurodevelopmental delay-seizures-ophthalmic anomalies-osteopenia-cerebellar atrophy syndrome (OMIM: OMIM:617810)
ORPHA:529965 — Intellectual disability-autism-speech apraxia-craniofacial dysmorphism syndrome (OMIM: OMIM:617682)
ORPHA:529970 — Male infertility due to acephalic spermatozoa (OMIM: OMIM:618112, OMIM:617187)
ORPHA:529977 — Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections-lymphopenia syndrome (OMIM: OMIM:618108)
ORPHA:53 — Albers-Schönberg osteopetrosis (OMIM: OMIM:166600)
ORPHA:530 — Lipoid proteinosis (OMIM: OMIM:247100)
ORPHA:530303 — Progressive dementia with neuroserpin inclusion bodies (OMIM: OMIM:604218)
ORPHA:53035 — Caroli disease (OMIM: OMIM:600643)
ORPHA:530838 — KRT1-related diffuse nonepidermolytic keratoderma (OMIM: OMIM:600962)
ORPHA:530849 — Familial apolipoprotein A5 deficiency (OMIM: OMIM:144650)
ORPHA:530983 — Lamb-Shaffer syndrome (OMIM: OMIM:616803)
ORPHA:530995 — Mixed phenotype acute leukemia (OMIM: OMIM:601626)
ORPHA:531 — Miller-Dieker syndrome (OMIM: OMIM:247200)
ORPHA:53271 — Muenke syndrome (OMIM: OMIM:602849)
ORPHA:53296 — Familial cutaneous collagenoma (OMIM: OMIM:115250)
ORPHA:53347 — Brody myopathy (OMIM: OMIM:601003)
ORPHA:53351 — X-linked dystonia-parkinsonism (OMIM: OMIM:314250)
ORPHA:53372 — Hereditary geniospasm (OMIM: OMIM:190100)
ORPHA:534 — Oculocerebrorenal syndrome of Lowe (OMIM: OMIM:309000)
ORPHA:53540 — Goldmann-Favre syndrome (OMIM: OMIM:268100)
ORPHA:535453 — Familial lipase maturation factor 1 deficiency (OMIM: OMIM:246650)
ORPHA:535458 — Familial GPIHBP1 deficiency (OMIM: OMIM:615947)
ORPHA:53583 — Paroxysmal dystonic choreathetosis with episodic ataxia and spasticity (OMIM: OMIM:601042)
ORPHA:536 — Systemic lupus erythematosus (OMIM: OMIM:301080, OMIM:614420)
ORPHA:536467 — B3GALT6-related spondylodysplastic Ehlers-Danlos syndrome (OMIM: OMIM:615349)
ORPHA:536471 — Spondylodysplastic Ehlers-Danlos syndrome (OMIM: OMIM:615349, OMIM:130070, OMIM:612350)
ORPHA:536516 — Myopathic Ehlers-Danlos syndrome (OMIM: OMIM:616471)
ORPHA:536532 — Classical-like Ehlers-Danlos syndrome type 2 (OMIM: OMIM:618000)
ORPHA:53689 — Congenital chloride diarrhea (OMIM: OMIM:214700)
ORPHA:53690 — Congenital lactase deficiency (OMIM: OMIM:223000)
ORPHA:53691 — Congenital cornea plana (OMIM: OMIM:121400, OMIM:217300)
ORPHA:53693 — GRACILE syndrome (OMIM: OMIM:603358)
ORPHA:53696 — Arthrogryposis-anterior horn cell disease syndrome (OMIM: OMIM:611890)
ORPHA:53697 — Gnathodiaphyseal dysplasia (OMIM: OMIM:166260)
ORPHA:53698 — Myosin storage myopathy (OMIM: OMIM:255160, OMIM:608358)
ORPHA:53715 — Familial tumoral calcinosis (OMIM: OMIM:211900, OMIM:610455)
ORPHA:538 — Lymphangioleiomyomatosis (OMIM: OMIM:606690)
ORPHA:538096 — Autosomal recessive lethal neonatal axonal sensorimotor polyneuropathy (OMIM: OMIM:604431)
ORPHA:538574 — Palmoplantar keratoderma-hereditary motor and sensory neuropathy syndrome (OMIM: OMIM:148360)
ORPHA:538756 — Familial multiple discoid fibromas (OMIM: OMIM:190340)
ORPHA:538931 — X-linked lymphoproliferative disease due to SAP deficiency (OMIM: OMIM:308240)
ORPHA:538934 — X-linked lymphoproliferative disease due to XIAP deficiency (OMIM: OMIM:300635)
ORPHA:538958 — Combined immunodeficiency due to CD70 deficiency (OMIM: OMIM:618261)
ORPHA:538963 — Combined immunodeficiency due to ITK deficiency (OMIM: OMIM:613011)
ORPHA:54 — X-linked recessive ocular albinism (OMIM: OMIM:300500)
ORPHA:540 — Familial hemophagocytic lymphohistiocytosis (OMIM: OMIM:267700, OMIM:603552, OMIM:603553, OMIM:608898, OMIM:613101, OMIM:618998)
ORPHA:54057 — Thrombotic thrombocytopenic purpura (OMIM: OMIM:274150)
ORPHA:541423 — Growth delay-intellectual disability-hepatopathy syndrome (OMIM: OMIM:617093)
ORPHA:542301 — Combined immunodeficiency due to CARMIL2 deficiency (OMIM: OMIM:618131)
ORPHA:542306 — GNB5-related intellectual disability-cardiac arrhythmia syndrome (OMIM: OMIM:617173, OMIM:617182)
ORPHA:542310 — Leukoencephalopathy with calcifications and cysts (OMIM: OMIM:614561)
ORPHA:542585 — Auditory neuropathy-optic atrophy syndrome (OMIM: OMIM:617717)
ORPHA:54260 — Left ventricular noncompaction (OMIM: OMIM:615373, OMIM:615396, OMIM:601493, OMIM:601494, OMIM:604169, OMIM:609470, OMIM:611878, OMIM:613424, OMIM:613426, OMIM:615092)
ORPHA:542657 — Isolated hyperchlorhidrosis (OMIM: OMIM:143860)
ORPHA:543 — Burkitt lymphoma (OMIM: OMIM:113970)
ORPHA:54370 — Primary membranoproliferative glomerulonephritis (OMIM: OMIM:305800, OMIM:609814, OMIM:614809, OMIM:615008)
ORPHA:544254 — SYNGAP1-related developmental and epileptic encephalopathy (OMIM: OMIM:612621)
ORPHA:544469 — PRUNE1-related neurological syndrome (OMIM: OMIM:617481)
ORPHA:544472 — Atypical hemolytic uremic syndrome with complement gene abnormality (OMIM: OMIM:612923, OMIM:612924, OMIM:235400, OMIM:609814, OMIM:612922, OMIM:612925, OMIM:612926, OMIM:615008)
ORPHA:544488 — Global developmental delay-alopecia-macrocephaly-facial dysmorphism-structural brain anomalies syndrome (OMIM: OMIM:619075)
ORPHA:544503 — RNF13-related severe early-onset epileptic encephalopathy (OMIM: OMIM:618379)
ORPHA:544602 — Congenital myopathy with reduced type 2 muscle fibers (OMIM: OMIM:618414)
ORPHA:544628 — Atypical Fanconi syndrome-neonatal hyperinsulinism syndrome (OMIM: OMIM:616026)
ORPHA:545 — Follicular lymphoma (OMIM: OMIM:613024)
ORPHA:547 — Non-Hodgkin lymphoma (OMIM: OMIM:605027)
ORPHA:548 — Leprosy (OMIM: OMIM:246300, OMIM:607572, OMIM:609888, OMIM:610988, OMIM:613223, OMIM:613407)
ORPHA:550 — MELAS (OMIM: OMIM:540000)
ORPHA:551 — MERRF (OMIM: OMIM:545000)
ORPHA:552 — MODY (OMIM: OMIM:125850, OMIM:125851, OMIM:600496, OMIM:606391, OMIM:606392, OMIM:606394, OMIM:609812, OMIM:610508, OMIM:612225, OMIM:613370, OMIM:613375, OMIM:616329, OMIM:616511)
ORPHA:555402 — NAD(P)HX dehydratase deficiency (OMIM: OMIM:618321)
ORPHA:555407 — NAD(P)HX epimerase deficiency (OMIM: OMIM:617186)
ORPHA:555877 — FLNA-related X-linked myxomatous valvular dysplasia (OMIM: OMIM:314400)
ORPHA:55595 — TNP03-related limb-girdle muscular dystrophy D2 (OMIM: OMIM:608423)
ORPHA:55596 — HNRNPDL-related limb-girdle muscular dystrophy D3 (OMIM: OMIM:609115)
ORPHA:55654 — Hypotrichosis simplex (OMIM: OMIM:620177, OMIM:618275, OMIM:615059, OMIM:615885, OMIM:278150, OMIM:604379, OMIM:605389, OMIM:607903, OMIM:614237, OMIM:614238)
ORPHA:556955 — Pancreatic agenesis-holoprosencephaly syndrome (OMIM: OMIM:618500)
ORPHA:556985 — Early-onset calcifying leukoencephalopathy-skeletal dysplasia (OMIM: OMIM:618476)
ORPHA:557 — Non-syndromic anorectal malformation (OMIM: OMIM:107100, OMIM:207500, OMIM:301800)
ORPHA:557003 — Oculoskeletodental syndrome (OMIM: OMIM:618440)
ORPHA:557056 — Spastic ataxia-dysarthria due to glutaminase deficiency (OMIM: OMIM:618412)
ORPHA:557064 — Neonatal epileptic encephalopathy due to glutaminase deficiency (OMIM: OMIM:618328)
ORPHA:558 — Marfan syndrome (OMIM: OMIM:610168, OMIM:154700)
ORPHA:55880 — Chondrosarcoma (OMIM: OMIM:215300)
ORPHA:55881 — Adamantinoma (OMIM: OMIM:102660)
ORPHA:559 — Marinesco-Sjögren syndrome (OMIM: OMIM:248800)
ORPHA:56 — Alkaptonuria (OMIM: OMIM:203500)
ORPHA:560 — Marshall syndrome (OMIM: OMIM:154780)
ORPHA:561 — Marshall-Smith syndrome (OMIM: OMIM:602535)
ORPHA:562 — McCune-Albright syndrome (OMIM: OMIM:174800)
ORPHA:562509 — Heme oxygenase-1 deficiency (OMIM: OMIM:614034)
ORPHA:562528 — Congenital limbs-face contractures-hypotonia-developmental delay syndrome (OMIM: OMIM:616266)
ORPHA:562538 — Autosomal recessive extra-oral halitosis (OMIM: OMIM:618148)
ORPHA:562559 — Anterior maxillary protrusion-strabismus-intellectual disability syndrome (OMIM: OMIM:613671)
ORPHA:562569 — TMEM94-associated congenital heart defect-facial dysmorphism-developmental delay syndrome (OMIM: OMIM:618316)
ORPHA:56304 — Atelosteogenesis type II (OMIM: OMIM:256050)
ORPHA:56305 — Atelosteogenesis type III (OMIM: OMIM:108721)
ORPHA:563708 — Syndromic congenital sodium diarrhea (OMIM: OMIM:270420)
ORPHA:564 — Meckel syndrome (OMIM: OMIM:615397, OMIM:249000, OMIM:603194, OMIM:607361, OMIM:611134, OMIM:611561, OMIM:612284, OMIM:613885, OMIM:609345, OMIM:614209, OMIM:617562, OMIM:619879, OMIM:267010, OMIM:616258, OMIM:614175)
ORPHA:564178 — Primary hypomagnesemia-refractory seizures-intellectual disability syndrome (OMIM: OMIM:618314)
ORPHA:565 — Menkes disease (OMIM: OMIM:309400)
ORPHA:565624 — Combined oxidative phosphorylation defect type 39 (OMIM: OMIM:618397)
ORPHA:565788 — Infantile inflammatory bowel disease with neurological involvement (OMIM: OMIM:618213)
ORPHA:565837 — Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23 (OMIM: OMIM:618138)
ORPHA:565858 — Craniosynostosis-microretrognathia-severe intellectual disability syndrome (OMIM: OMIM:618265)
ORPHA:565899 — POMGNT2-related limb-girdle muscular dystrophy R24 (OMIM: OMIM:618135)
ORPHA:565909 — Calpain-3-related limb-girdle muscular dystrophy D4 (OMIM: OMIM:618129)
ORPHA:566 — Congenital microcoria (OMIM: OMIM:156600)
ORPHA:566067 — CEBPE-associated autoinflammation-immunodeficiency-neutrophil dysfunction syndrome (OMIM: OMIM:260570)
ORPHA:566175 — Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome (OMIM: OMIM:226300)
ORPHA:566192 — Congenital autosomal recessive small-platelet thrombocytopenia (OMIM: OMIM:273900)
ORPHA:566243 — Resistance to thyroid hormone due to a mutation in thyroid hormone receptor beta (OMIM: OMIM:145650, OMIM:188570, OMIM:274300)
ORPHA:567 — 22q11.2 deletion syndrome (OMIM: OMIM:125520, OMIM:192430, OMIM:188400)
ORPHA:567502 — B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome (OMIM: OMIM:609296)
ORPHA:567548 — Idiopathic steroid-resistant nephrotic syndrome (OMIM: OMIM:619263)
ORPHA:568 — Microphthalmia, Lenz type (OMIM: OMIM:300166, OMIM:309800)
ORPHA:568051 — GJC2-related late-onset primary lymphedema (OMIM: OMIM:613480)
ORPHA:568062 — PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis (OMIM: OMIM:616843)
ORPHA:568065 — EPHB4-related lymphatic-related hydrops fetalis (OMIM: OMIM:617300)
ORPHA:569 — Familial or sporadic hemiplegic migraine (OMIM: OMIM:141500, OMIM:602481, OMIM:607516, OMIM:609634)
ORPHA:569274 — Multiple mitochondrial dysfunctions syndrome type 5 (OMIM: OMIM:617613)
ORPHA:569290 — Multiple mitochondrial dysfunctions syndrome type 6 (OMIM: OMIM:617954)
ORPHA:569816 — CELSR1-related late-onset primary lymphedema (OMIM: OMIM:619319)
ORPHA:569821 — Congenital primary lymphedema of Gordon (OMIM: OMIM:615907)
ORPHA:57 — Glycogen storage disease due to aldolase A deficiency (OMIM: OMIM:611881)
ORPHA:570 — Moebius syndrome (OMIM: OMIM:157900)
ORPHA:570371 — Bartter syndrome type 5 (OMIM: OMIM:300971)
ORPHA:570422 — Galactose mutarotase deficiency (OMIM: OMIM:618881)
ORPHA:570491 — QRSL1-related combined oxidative phosphorylation defect (OMIM: OMIM:618835)
ORPHA:572 — Immunodeficiency by defective expression of MHC class II (OMIM: OMIM:209920)
ORPHA:572013 — Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome (OMIM: OMIM:618325)
ORPHA:572354 — Blepharophimosis-ptosis-epicanthus inversus syndrome type 1 (OMIM: OMIM:110100)
ORPHA:572361 — Blepharophimosis-ptosis-epicanthus inversus syndrome type 2 (OMIM: OMIM:110100)
ORPHA:572385 — Brachydactyly type B1 (OMIM: OMIM:113000)
ORPHA:572428 — Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia (OMIM: OMIM:618042)
ORPHA:572543 — RFVT2-related riboflavin transporter deficiency (OMIM: OMIM:211530)
ORPHA:572550 — RFVT3-related riboflavin transporter deficiency (OMIM: OMIM:614707)
ORPHA:572761 — DONSON-related microcephaly-short stature-limb abnormalities spectrum (OMIM: OMIM:617604)
ORPHA:572768 — Microcephaly-micromelia syndrome (OMIM: OMIM:251230)
ORPHA:572773 — Microcephaly-short stature-limb abnormalities syndrome (OMIM: OMIM:617604)
ORPHA:572798 — WARS2-related combined oxidative phosphorylation defect (OMIM: OMIM:617710)
ORPHA:573 — Monilethrix (OMIM: OMIM:158000)
ORPHA:574918 — Predisposition to severe viral infection due to IRF7 deficiency (OMIM: OMIM:616345)
ORPHA:575 — Muckle-Wells syndrome (OMIM: OMIM:191900)
ORPHA:576 — Mucolipidosis type II (OMIM: OMIM:252500)
ORPHA:576278 — SATB2-associated syndrome (OMIM: OMIM:612313)
ORPHA:576283 — SATB2-associated syndrome due to a pathogenic variant (OMIM: OMIM:612313)
ORPHA:576349 — NLRC4-related familial cold autoinflammatory syndrome (OMIM: OMIM:616115)
ORPHA:577 — Mucolipidosis type III (OMIM: OMIM:252600, OMIM:252605)
ORPHA:578 — Mucolipidosis type IV (OMIM: OMIM:252650)
ORPHA:579 — Mucopolysaccharidosis type 1 (OMIM: OMIM:607014, OMIM:607015, OMIM:607016)
ORPHA:58 — Alexander disease (OMIM: OMIM:203450)
ORPHA:580 — Mucopolysaccharidosis type 2 (OMIM: OMIM:309900)
ORPHA:580940 — QRICH1-related intellectual disability-chondrodysplasia syndrome (OMIM: OMIM:617982)
ORPHA:581 — Mucopolysaccharidosis type 3 (OMIM: OMIM:252900, OMIM:252920, OMIM:252930, OMIM:252940)
ORPHA:582 — Mucopolysaccharidosis type 4 (OMIM: OMIM:252300, OMIM:253000, OMIM:253010)
ORPHA:583 — Mucopolysaccharidosis type 6 (OMIM: OMIM:253200)
ORPHA:583595 — Serine biosynthesis pathway deficiency, infantile/juvenile form (OMIM: OMIM:614023, OMIM:610992, OMIM:601815)
ORPHA:583602 — Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency (OMIM: OMIM:616038)
ORPHA:583607 — Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency (OMIM: OMIM:256520)
ORPHA:584 — Mucopolysaccharidosis type 7 (OMIM: OMIM:253220)
ORPHA:585 — Multiple sulfatase deficiency (OMIM: OMIM:272200)
ORPHA:586 — Cystic fibrosis (OMIM: OMIM:219700)
ORPHA:588 — Muscle-eye-brain disease (OMIM: OMIM:236670, OMIM:253280, OMIM:253800, OMIM:613150, OMIM:613153, OMIM:613154, OMIM:615181, OMIM:615350)
ORPHA:589 — Myasthenia gravis (OMIM: OMIM:607085, OMIM:159400, OMIM:254200)
ORPHA:589435 — Spondylometaphyseal dysplasia-corneal dystrophy syndrome (OMIM: OMIM:618961)
ORPHA:589442 — Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome (OMIM: OMIM:618889)
ORPHA:589522 — Spinocerebellar ataxia type 46 (OMIM: OMIM:617770)
ORPHA:589527 — Spinocerebellar ataxia type 45 (OMIM: OMIM:617769)
ORPHA:589547 — GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder (OMIM: OMIM:616139, OMIM:613970)
ORPHA:589608 — Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies (OMIM: OMIM:618727)
ORPHA:589618 — Dystonia 28 (OMIM: OMIM:617284)
ORPHA:589821 — Congenital-onset Steinert myotonic dystrophy (OMIM: OMIM:160900)
ORPHA:589824 — Childhood-onset Steinert myotonic dystrophy (OMIM: OMIM:160900)
ORPHA:589827 — Juvenile-onset Steinert myotonic dystrophy (OMIM: OMIM:160900)
ORPHA:589830 — Adult-onset Steinert myotonic dystrophy (OMIM: OMIM:160900)
ORPHA:589833 — Late-onset Steinert myotonic dystrophy (OMIM: OMIM:160900)
ORPHA:589856 — Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome (OMIM: OMIM:620186)
ORPHA:589905 — PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome (OMIM: OMIM:617991)
ORPHA:59 — Allan-Herndon-Dudley syndrome (OMIM: OMIM:300523)
ORPHA:590 — Congenital myasthenic syndrome (OMIM: OMIM:617143, OMIM:619461, OMIM:616224, OMIM:616325, OMIM:616326, OMIM:616330, OMIM:616720, OMIM:617239, OMIM:254190, OMIM:254210, OMIM:254300, OMIM:601462, OMIM:603034, OMIM:605809, OMIM:608930, OMIM:608931, OMIM:610542, OMIM:614198, OMIM:614750, OMIM:615120, OMIM:616040, OMIM:616227, OMIM:616228, OMIM:616304, OMIM:616313, OMIM:616314, OMIM:616321, OMIM:616322, OMIM:616323, OMIM:616324)
ORPHA:59135 — Laing distal myopathy (OMIM: OMIM:160500)
ORPHA:59181 — Sorsby pseudoinflammatory fundus dystrophy (OMIM: OMIM:136900)
ORPHA:592564 — GNAO1-related developmental delay-seizures-movement disorder spectrum (OMIM: OMIM:617493)
ORPHA:592570 — TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome (OMIM: OMIM:618164)
ORPHA:592574 — Menke-Hennekam syndrome (OMIM: OMIM:618332, OMIM:618333)
ORPHA:59298 — Schilder disease (OMIM: OMIM:272100)
ORPHA:59303 — Neonatal ichthyosis-sclerosing cholangitis syndrome (OMIM: OMIM:607626)
ORPHA:59306 — McLeod neuroacanthocytosis syndrome (OMIM: OMIM:300842)
ORPHA:596 — X-linked centronuclear myopathy (OMIM: OMIM:310400)
ORPHA:596008 — Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis (OMIM: OMIM:207410)
ORPHA:596753 — VEXAS syndrome (OMIM: OMIM:301054)
ORPHA:596759 — Combined immunodeficiency due to RELA haploinsufficiency (OMIM: OMIM:618287)
ORPHA:597 — Central core disease (OMIM: OMIM:117000)
ORPHA:597623 — IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome (OMIM: OMIM:618088)
ORPHA:597733 — Oculocutaneous albinism type 8 (OMIM: OMIM:619165)
ORPHA:597738 — Luscan-Lumish syndrome (OMIM: OMIM:616831)
ORPHA:597743 — SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome (OMIM: OMIM:620157)
ORPHA:597874 — MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome (OMIM: OMIM:618367)
ORPHA:597939 — Euthyroid dysprealbuminemic hyperthyroxinemia (OMIM: OMIM:145680)
ORPHA:598 — Multiminicore myopathy (OMIM: OMIM:117000, OMIM:255320, OMIM:602771)
ORPHA:598603 — Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome (OMIM: OMIM:618381)
ORPHA:599082 — CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome (OMIM: OMIM:618205)
ORPHA:599373 — STXBP1-related encephalopathy (OMIM: OMIM:612164)
ORPHA:599519 — Factor V short isoforms-related bleeding disorder (OMIM: OMIM:605913)
ORPHA:6 — 3-methylcrotonyl-CoA carboxylase deficiency (OMIM: OMIM:210200, OMIM:210210)
ORPHA:60 — Alpha-1-antitrypsin deficiency (OMIM: OMIM:613490)
ORPHA:600 — Vocal cord and pharyngeal distal myopathy (OMIM: OMIM:606070)
ORPHA:60015 — Enlarged parietal foramina (OMIM: OMIM:168500, OMIM:609566, OMIM:609597)
ORPHA:60025 — Pulmonary alveolar microlithiasis (OMIM: OMIM:265100)
ORPHA:60026 — Pulmonary nodular lymphoid hyperplasia (OMIM: OMIM:178610)
ORPHA:60030 — Loeys-Dietz syndrome (OMIM: OMIM:613795, OMIM:615582, OMIM:619656, OMIM:614816, OMIM:609192, OMIM:610168)
ORPHA:60033 — Idiopathic bronchiectasis (OMIM: OMIM:211400, OMIM:613021, OMIM:613071)
ORPHA:60040 — Megalencephaly-capillary malformation-polymicrogyria syndrome (OMIM: OMIM:602501)
ORPHA:60041 — Congenital heart block (OMIM: OMIM:234700)
ORPHA:600663 — NRXN1-related severe neurodevelopmental disorder-motor stereotypies-chronic constipation-sleep-wake cycle disturbance (OMIM: OMIM:614325)
ORPHA:600668 — CCNK-related neurodevelopmental disorder-severe intellectual disability-facial dysmorphism syndrome (OMIM: OMIM:618147)
ORPHA:600731 — Clark-Baraitser syndrome (OMIM: OMIM:617752)
ORPHA:602 — GNE myopathy (OMIM: OMIM:605820, OMIM:617158)
ORPHA:603 — Distal myopathy, Welander type (OMIM: OMIM:604454)
ORPHA:603448 — Cerebellar hypoplasia-intellectual disability-congenital microcephaly-dystonia-anemia-growth retardation syndrome (OMIM: OMIM:619273)
ORPHA:603494 — Coloboma-osteopetrosis-microphthalmia-macrocephaly-albinism-deafness syndrome (OMIM: OMIM:617306)
ORPHA:603689 — KLHL7-related Bohring-Opitz-like syndrome (OMIM: OMIM:617055)
ORPHA:604680 — Symptomatic form of X-linked centronuclear myopathy in female carriers (OMIM: OMIM:310400)
ORPHA:606 — Proximal myotonic myopathy (OMIM: OMIM:602668)
ORPHA:609 — Tibial muscular dystrophy (OMIM: OMIM:600334)
ORPHA:61 — Alpha-mannosidosis (OMIM: OMIM:248500)
ORPHA:610 — Bethlem muscular dystrophy (OMIM: OMIM:620726, OMIM:620725, OMIM:158810, OMIM:616471)
ORPHA:610569 — KIAA1109-related early lethal congenital brain malformations-arthrogryposis syndrome (OMIM: OMIM:617822)
ORPHA:610573 — CLCN6-related childhood-onset progressive neurodegeneration-peripheral neuropathy syndrome (OMIM: OMIM:619173)
ORPHA:611 — Inclusion body myositis (OMIM: OMIM:147421)
ORPHA:611201 — Oculogastrointestinal-neurodevelopmental syndrome (OMIM: OMIM:619318)
ORPHA:611207 — Spondyloepiphyseal dysplasia-sensorineural hearing loss-intellectual disability-Leber congenital amaurosis syndrome (OMIM: OMIM:619260)
ORPHA:611216 — Aplastic anemia-intellectual disability-dwarfism syndrome (OMIM: OMIM:619151)
ORPHA:611223 — EN1-related dorsoventral syndrome (OMIM: OMIM:619217, OMIM:619218)
ORPHA:611237 — Parkinsonism with polyneuropathy (OMIM: OMIM:619279)
ORPHA:611247 — Pontocerebellar hypoplasia type 11 (OMIM: OMIM:617695)
ORPHA:611256 — Pontocerebellar hypoplasia type 12 (OMIM: OMIM:618266)
ORPHA:612 — Potassium-aggravated myotonia (OMIM: OMIM:608390)
ORPHA:613267 — Pontocerebellar hypoplasia type 13 (OMIM: OMIM:618606)
ORPHA:613274 — Pontocerebellar hypoplasia type 14 (OMIM: OMIM:619301)
ORPHA:614 — Thomsen and Becker disease (OMIM: OMIM:160800, OMIM:255700)
ORPHA:615 — Familial atrial myxoma (OMIM: OMIM:255960)
ORPHA:615938 — Spastic paraparesis-cataracts-speech delay syndrome (OMIM: OMIM:619338)
ORPHA:615954 — Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome (OMIM: OMIM:618810)
ORPHA:615964 — Acute reversible leukoencephalopathy with increased urinary alpha-ketoglutarate (OMIM: OMIM:618384)
ORPHA:615983 — Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to a point mutation (OMIM: OMIM:618810)
ORPHA:615986 — Lethal pontocerebellar hypoplasia-hypotonia-respiratory insufficiency syndrome due to biallelic deletions in the ATAD3 gene cluster (OMIM: OMIM:618810)
ORPHA:616 — Medulloblastoma (OMIM: OMIM:155255)
ORPHA:618 — Familial melanoma (OMIM: OMIM:155600, OMIM:155601, OMIM:155700, OMIM:608035, OMIM:609048, OMIM:613099, OMIM:613972, OMIM:615134, OMIM:615848)
ORPHA:619233 — Hereditary persistence of fetal hemoglobin-intellectual disability syndrome (OMIM: OMIM:617101)
ORPHA:619941 — Congenital neutropenia-combined immunodeficiency due to MKL1 deficiency (OMIM: OMIM:618847)
ORPHA:619948 — Early-onset autoimmunity-autoinflammation-immunodeficiency syndrome due to SOCS1 haploinsufficiency (OMIM: OMIM:619375)
ORPHA:619953 — Familial hyperinflammatory lymphoproliferative immunodeficiency (OMIM: OMIM:618982)
ORPHA:619972 — CADINS disease (OMIM: OMIM:617638)
ORPHA:619979 — Developmental delay-immunodeficiency-leukoencephalopathy-hypohomocysteinemia syndrome (OMIM: OMIM:617744)
ORPHA:62 — Alpha-sarcoglycan-related limb-girdle muscular dystrophy R3 (OMIM: OMIM:608099)
ORPHA:620217 — Bartter syndrome type 1 (OMIM: OMIM:601678)