TaoMedAI/RareMedData huggingface dataset:
ORPHA:221078: Combined hyperactive dysfunction syndrome of the cranial nerves
ORPHA:221083: Hemifacial spasm
ORPHA:221083: Facial hemispasm
ORPHA:221083: Focal myoclonus of face
ORPHA:221091: Trigeminal neuralgia
ORPHA:221098: Glossopharyngeal neuralgia
ORPHA:2211: Hypertelorism-hypospadias-polysyndactyly syndrome
ORPHA:2211: Acrofrontofacionasal dysostosis type 2
ORPHA:2211: Acrofrontofacionasal syndrome type 2
ORPHA:2211: Naguib-Richieri-Costa syndrome
ORPHA:221109: Cranial neuralgia
ORPHA:221109: Facial neuralgia
ORPHA:221114: Acquired peripheral movement disorder
ORPHA:221117: Gerstmann syndrome
ORPHA:221120: Pseudoaminopterin syndrome
ORPHA:221120: ASSA
ORPHA:221120: Aminopterin syndrome-like sine aminopterin
ORPHA:221126: Fowler vasculopathy
ORPHA:221126: Cerebral proliferative glomeruloid vasculopathy
ORPHA:221126: Encephaloclastic proliferative vasculopathy
ORPHA:221126: Hydrocephaly/hydranencephaly due to cerebral vasculopathy
ORPHA:221126: Proliferative vasculopathy and hydranencephaly/hydrocephaly
ORPHA:221139: Combined immunodeficiency with facio-oculo-skeletal anomalies
ORPHA:221139: Roifman-Chitayat syndrome
ORPHA:221142: Confetti-like macular atrophy
ORPHA:221145: Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies
ORPHA:221145: ARCL1C
ORPHA:221145: Autosomal recessive cutis laxa type 1C
ORPHA:221145: Urban-Rifkin-Davis syndrome
ORPHA:2213: Hypertelorism-microtia-facial clefting syndrome
ORPHA:2213: Bixler-Christian-Gorlin syndrome
ORPHA:2213: HMC syndrome
ORPHA:2215: Multiple pterygium-malignant hyperthermia syndrome
ORPHA:2215: Froster-Iskenius-Waterson-Hall syndrome
ORPHA:2215: Malignant hyperthermia-arthrogryposis-torticollis syndrome
ORPHA:2216: Maternal hyperthermia-induced birth defects
ORPHA:2218: Cervical hypertrichosis-peripheral neuropathy syndrome
ORPHA:222: Erosive pustular dermatosis of the scalp
ORPHA:2220: Hypertrichosis cubiti
ORPHA:2220: Hairy elbows syndrome
ORPHA:2220: MacDermot-Patton-Williams syndrome
ORPHA:2221: Acquired hypertrichosis lanuginosa
ORPHA:2222: Hypertrichosis lanuginosa congenita
ORPHA:2222: Hypertrichosis universalis
ORPHA:2224: Hypertryptophanemia
ORPHA:222628: Hereditary poikiloderma
ORPHA:2228: Hypodontia-dysplasia of nails syndrome
ORPHA:2228: Hypodontia-nail dysgenesis syndrome
ORPHA:2228: Tooth and nail syndrome
ORPHA:2228: Witkop syndrome
ORPHA:2229: Dilated cardiomyopathy-hypergonadotropic hypogonadism syndrome
ORPHA:2229: Cardiogenital syndrome
ORPHA:2229: Malouf syndrome
ORPHA:2229: Najjar syndrome
ORPHA:223: Arginine vasopressin resistance
ORPHA:223: Nephrogenic diabetes insipidus
ORPHA:2230: Hypogonadotropic hypogonadism-frontoparietal alopecia syndrome
ORPHA:2230: Salti-Salem syndrome
ORPHA:2232: Primary hypergonadotropic hypogonadism-partial alopecia syndrome
ORPHA:2232: Al Awadi-Farag-Teebi syndrome
ORPHA:2233: Hypogonadism-mitral valve prolapse-intellectual disability syndrome
ORPHA:2233: Cantalamessa-Baldini-Ambrosi syndrome
ORPHA:2234: Male hypergonadotropic hypogonadism-intellectual disability-skeletal anomalies syndrome
ORPHA:2234: Sohval-Soffer syndrome
ORPHA:2235: Hypogonadotropic hypogonadism-retinitis pigmentosa syndrome
ORPHA:2235: Chang-Davidson-Carlson syndrome
ORPHA:2237: Hypoparathyroidism-sensorineural deafness-renal disease syndrome
ORPHA:2237: Barakat syndrome
ORPHA:2237: HDR syndrome
ORPHA:2237: Hypoparathyroidism-sensorineural hearing loss-renal disease syndrome
ORPHA:223713: Mitochondrial oxidative phosphorylation disorder
ORPHA:223713: OXPHOS disease
ORPHA:223727: Bone sarcoma
ORPHA:223735: Lymphoma
ORPHA:2238: Familial isolated hypoparathyroidism
ORPHA:2239: Familial isolated hypoparathyroidism due to agenesis of parathyroid gland
ORPHA:224: Neonatal diabetes mellitus
ORPHA:224: Congenital diabetes mellitus
ORPHA:224: Diabetes of infancy
ORPHA:224: Monogenic diabetes of infancy
ORPHA:224: NDM
ORPHA:2241: Megacystis-microcolon-intestinal hypoperistalsis syndrome
ORPHA:2241: Berdon syndrome
ORPHA:2241: MMIHS
ORPHA:2241: Megacystis-microcolon-intestinal hypoperistalsis-hydronephrosis syndrome
ORPHA:2246: Cerebellar hypoplasia-tapetoretinal degeneration syndrome
ORPHA:2248: Hypoplastic left heart syndrome
ORPHA:2248: HLHS
ORPHA:2249: Ulna hypoplasia-intellectual disability syndrome
ORPHA:2250: Hyposmia-nasal and ocular hypoplasia-hypogonadotropic hypogonadism syndrome
ORPHA:2250: Bosma arhinia-microphthalmia syndrome
ORPHA:2250: Bosma-Henkin-Christiansen syndrome
ORPHA:2251: Thumb deformity-alopecia-pigmentation anomaly syndrome
ORPHA:2251: Sparse hair-short stature-skin anomalies syndrome
ORPHA:225123: TFR2-related hemochromatosis
ORPHA:225123: Hereditary hemochromatosis type 3
ORPHA:225147: Sporadic infantile bilateral striatal necrosis
ORPHA:225147: ABSN
ORPHA:225147: Acute bilateral striatal necrosis
ORPHA:225147: Sporadic IBSN
ORPHA:225147: Sporadic infantile striatonigral degeneration
ORPHA:225147: Sporadic infantile striatonigral necrosis
ORPHA:225154: Familial infantile bilateral striatal necrosis
ORPHA:225154: Familial IBSN
ORPHA:225154: Familial infantile striatonigral degeneration
ORPHA:225154: Familial infantile striatonigral necrosis
ORPHA:2252: Radial hypoplasia-triphalangeal thumbs-hypospadias-maxillary diastema syndrome
ORPHA:2252: Schmitt-Gillenwater-Kelly syndrome
ORPHA:2253: Foveal hypoplasia-presenile cataract syndrome
ORPHA:2253: O'Donnell-Pappas syndrome
ORPHA:2254: Pontocerebellar hypoplasia type 1
ORPHA:2254: Norman disease
ORPHA:2254: PCH1
ORPHA:2255: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
ORPHA:2255: PACHD
ORPHA:2255: Pancreatic agenesis and congenital heart defects syndrome
ORPHA:2255: Yorifuji-Okuno syndrome
ORPHA:2256: Fibulo-ulnar hypoplasia-renal anomalies syndrome
ORPHA:2256: Saito-Kuba-Tsuruta syndrome
ORPHA:225681: Lysosomal disease with epilepsy
ORPHA:225686: Peroxisomal disease with epilepsy
ORPHA:225689: Amino acid or protein metabolism disease with epilepsy
ORPHA:225692: Metal transport or utilization disorder with epilepsy
ORPHA:225696: Energy metabolism disorder with epilepsy
ORPHA:2257: Primary pulmonary hypoplasia
ORPHA:225700: Mitochondrial disease with epilepsy
ORPHA:225703: Mitochondrial disease with peripheral neuropathy
ORPHA:225707: Metabolic neurotransmission anomaly with epilepsy
ORPHA:225710: Sterol metabolism disorder with epilepsy
ORPHA:225713: Other metabolic disease with epilepsy
ORPHA:226: Dihydropteridine reductase deficiency
ORPHA:226: Hyperphenylalaninemia due to dihydropteridine reductase deficiency
ORPHA:226: PKU type 2
ORPHA:226: Phenylketonuria type 2
ORPHA:2260: Oligomeganephronia
ORPHA:2260: Oligomeganephronic renal hypoplasia
ORPHA:2261: Hypospadias-intellectual disability, Goldblatt type syndrome
ORPHA:2261: Goldblatt-Wallis syndrome
ORPHA:226292: Permanent congenital hypothyroidism
ORPHA:226295: Primary congenital hypothyroidism
ORPHA:226298: Central congenital hypothyroidism
ORPHA:226298: Secondary hypothyroidism
ORPHA:226307: Hypothyroidism due to deficient transcription factors involved in pituitary development or function
ORPHA:226313: Congenital hypothyroidism due to maternal intake of antithyroid drugs
ORPHA:226316: Genetic transient congenital hypothyroidism
ORPHA:2266: Hypotrichosis-intellectual disability, Lopes type
ORPHA:2266: Lopes-Marques de Faria syndrome
ORPHA:2268: ICF syndrome
ORPHA:2268: Immunodeficiency-centromeric instability-facial anomalies syndrome
ORPHA:2268: Immunodeficiency-centromeric instability-facial dysmorphism syndrome
ORPHA:2269: Ichthyosis-alopecia-eclabion-ectropion-intellectual disability syndrome
ORPHA:2269: Jagell-Holmgren-Hofer syndrome
ORPHA:227: Diphallia
ORPHA:2271: Congenital ichthyosis-microcephalus-tetraplegia syndrome
ORPHA:2271: Congenital ichthyosis-microcephalus-quadriplegia syndrome
ORPHA:2272: Ichthyosis-oral and digital anomalies syndrome
ORPHA:2272: Clayton Smith-Donnai syndrome
ORPHA:2273: Ichthyosis follicularis-alopecia-photophobia syndrome
ORPHA:2273: IFAP syndrome
ORPHA:2273: Ichthyosis follicularis-atrichia-photophobia syndrome
ORPHA:2274: Ichthyosis-hepatosplenomegaly-cerebellar degeneration syndrome
ORPHA:2274: Dykes-Marks-Harper syndrome
ORPHA:227510: Multiple system atrophy, cerebellar type
ORPHA:227510: MSA, cerebellar type
ORPHA:227510: MSA-c
ORPHA:227510: Sporadic OPCA type 1
ORPHA:227510: Sporadic olivopontocerebellar atrophy type 1
ORPHA:227535: Hereditary breast cancer
ORPHA:227535: Familial breast cancer
ORPHA:227535: Familial breast carcinoma
ORPHA:227535: Hereditary breast carcinoma
ORPHA:227796: Fundus albipunctatus
ORPHA:2278: Ichthyosis-intellectual disability-dwarfism-renal impairment syndrome
ORPHA:2278: Passwell-Goodman-Siprkowski syndrome
ORPHA:227972: Toxic oil syndrome
ORPHA:227976: Autosomal recessive optic atrophy, OPA7 type
ORPHA:227982: Autoimmune polyendocrinopathy type 3
ORPHA:227982: APS type 3
ORPHA:227982: APS3
ORPHA:227982: Autoimmune polyendocrine syndrome type 3
ORPHA:227982: Autoimmune polyglandular syndrome type 3
ORPHA:227990: Autoimmune polyendocrinopathy type 4
ORPHA:227990: APS type 4
ORPHA:227990: APS4
ORPHA:227990: Autoimmune polyendocrine syndrome type 4
ORPHA:227990: Autoimmune polyglandular syndrome type 4
ORPHA:228000: Idiopathic CD4 lymphocytopenia
ORPHA:228003: Severe combined immunodeficiency due to CORO1A deficiency
ORPHA:228003: SCID due to CORO1A deficiency
ORPHA:228003: SCID due to coronin-1A deficiency
ORPHA:228003: Severe combined immunodeficiency due to coronin-1A deficiency
ORPHA:228012: Progressive sensorineural hearing loss-hypertrophic cardiomyopathy syndrome
ORPHA:228012: Progressive neurosensory deafness-hypertrophic cardiomyopathy syndrome
ORPHA:228012: Progressive neurosensory hearing loss-hypertrophic cardiomyopathy syndrome
ORPHA:228012: Progressive sensorineural deafness-hypertrophic cardiomyopathy syndrome
ORPHA:228113: Anal fistula
ORPHA:228116: Hughes-Stovin syndrome
ORPHA:228119: Fusariosis
ORPHA:228119: Fusarium infection
ORPHA:228123: Coccidioidomycosis
ORPHA:228123: California disease
ORPHA:228123: Coccidioides infection
ORPHA:228123: Desert fever
ORPHA:228123: Desert rheumatism
ORPHA:228123: San Joaquin valley fever
ORPHA:228123: Valley fever
ORPHA:228140: Idiopathic ventricular fibrillation, non Brugada type
ORPHA:228140: Familial paroxysmal ventricular fibrillation, non Brugada type
ORPHA:228145: Multiple sclerosis variant
ORPHA:228157: Marburg acute multiple sclerosis
ORPHA:228157: Acute multiple sclerosis, Marburg type
ORPHA:228157: Acute multiple sclerosis, Marburg variant
ORPHA:228165: Baló concentric sclerosis
ORPHA:228165: Concentric demyelination
ORPHA:228169: Autosomal dominant striatal neurodegeneration
ORPHA:228169: ADSD
ORPHA:228174: Autosomal dominant Charcot-Marie-Tooth disease type 2N
ORPHA:228174: CMT2N
ORPHA:228179: Autosomal dominant Charcot-Marie-Tooth disease type 2M
ORPHA:228179: CMT2M
ORPHA:228184: Heart-hand syndrome
ORPHA:228184: Atriodigital dysplasia
ORPHA:228190: Patent ductus arteriosus-bicuspid aortic valve-hand anomalies syndrome
ORPHA:228190: Patent arterial duct-bicuspid aortic valve-hand anomalies syndrome
ORPHA:2282: Dysmorphism-short stature-deafness-difference of sex development syndrome
ORPHA:2282: Dysmorphism-short stature-deafness-disorder of sex development syndrome
ORPHA:2282: Dysmorphism-short stature-hearing loss-disorder of sex development syndrome
ORPHA:2282: Ieshima-Koeda-Inagaki syndrome
ORPHA:228215: Genetic dermis elastic tissue disorder
ORPHA:228218: Acquired dermis elastic tissue disorder
ORPHA:228221: Acquired dermis elastic tissue disorder with decreased elastic tissue
ORPHA:228224: Acquired dermis elastic tissue disorder with increased elastic tissue
ORPHA:228227: Late-onset focal dermal elastosis
ORPHA:228227: PXE-like late-onset focal dermal elastosis
ORPHA:228227: Pseudoxanthoma-like late-onset focal dermal elastosis
ORPHA:228236: Linear focal elastosis
ORPHA:228236: Elastotic striae
ORPHA:228236: Linear focal dermal elastosis
ORPHA:228240: Elastoderma
ORPHA:228243: Elastofibroma dorsi
ORPHA:228247: Acquired pseudoxanthoma elasticum
ORPHA:228247: Acquired Gronblad-Strandberg-Touraine syndrome
ORPHA:228247: Acquired PXE
ORPHA:228254: Elastoma
ORPHA:228254: Juvenile elastoma without osteopoikilosis
ORPHA:228254: Nevus elasticus
ORPHA:228254: Weidman juvenile elastoma
ORPHA:228264: Papular elastorrhexis
ORPHA:228272: Primary anetoderma
ORPHA:228272: Primary macular atrophy
ORPHA:228277: Familial anetoderma
ORPHA:228277: Hereditary anetoderma
ORPHA:228277: Hereditary macular atrophy
ORPHA:228285: Acquired cutis laxa
ORPHA:228285: Cutis laxa acquisita
ORPHA:228290: White fibrous papulosis of the neck
ORPHA:228293: Pseudoxanthoma elasticum-like papillary dermal elastolysis
ORPHA:228293: PXE-like papillary dermal elastolysis
ORPHA:228299: Mid-dermal elastolysis
ORPHA:228302: Carnitine palmitoyl transferase II deficiency, myopathic form
ORPHA:228302: CPT2, adult-onset form
ORPHA:228302: CPT2, myopathic form
ORPHA:228302: CPTII, adult-onset form
ORPHA:228302: CPTII, myopathic form
ORPHA:228302: Carnitine palmitoyl transferase II deficiency, adult-onset form
ORPHA:228302: Carnitine palmitoyl transferase deficiency type 2, adult-onset form
ORPHA:228302: Carnitine palmitoyl transferase deficiency type 2, myopathic form
ORPHA:228305: Carnitine palmitoyl transferase II deficiency, severe infantile form
ORPHA:228305: CPT2, hepatocardiomuscular form
ORPHA:228305: CPT2, severe infantile form
ORPHA:228305: CPTII, hepatocardiomuscular form
ORPHA:228305: CPTII, severe infantile form
ORPHA:228305: Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form
ORPHA:228305: Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form
ORPHA:228305: Carnitine palmitoyl transferase deficiency type 2, severe infantile form
ORPHA:228308: Carnitine palmitoyl transferase II deficiency, neonatal form
ORPHA:228308: CPT2, lethal systemic form
ORPHA:228308: CPT2, neonatal form
ORPHA:228308: CPTII, lethal systemic form
ORPHA:228308: CPTII, neonatal form
ORPHA:228308: Carnitine palmitoyl transferase II deficiency, lethal systemic form
ORPHA:228308: Carnitine palmitoyl transferase deficiency type 2, lethal systemic form
ORPHA:228308: Carnitine palmitoyl transferase deficiency type 2, neonatal form
ORPHA:228312: Autoimmune hemolytic anemia, cold type
ORPHA:228312: Cold AIHA
ORPHA:228312: cAHA
ORPHA:228312: cAIHA
ORPHA:228329: CLN1 disease
ORPHA:228329: Haltia-Santavuori disease
ORPHA:228329: Neuronal ceroid lipofuscinosis type 1
ORPHA:228337: CLN10 disease
ORPHA:228337: CNCL
ORPHA:228337: Neuronal ceroid lipofuscinosis type 10
ORPHA:228343: CLN4 disease
ORPHA:228343: CLN4B disease
ORPHA:228343: Neuronal ceroid lipofuscinosis type 4
ORPHA:228346: CLN3 disease
ORPHA:228346: Batten-Spielmeyer-Vogt-Sjögren disease
ORPHA:228346: Classic juvenile NCL
ORPHA:228346: Classic juvenile neuronal ceroid lipofuscinosis
ORPHA:228346: Neuronal ceroid lipofuscinosis type 3
ORPHA:228349: CLN2 disease
ORPHA:228349: Neuronal ceroid lipofuscinosis type 2
ORPHA:228354: CLN8 disease
ORPHA:228354: Neuronal ceroid lipofuscinosis type 8
ORPHA:228360: CLN5 disease
ORPHA:228360: Neuronal ceroid lipofuscinosis type 5
ORPHA:228363: CLN6 disease
ORPHA:228363: Neuronal ceroid lipofuscinosis type 6
ORPHA:228363: vLINCL
ORPHA:228366: CLN7 disease
ORPHA:228366: Neuronal ceroid lipofuscinosis type 7
ORPHA:228366: Turkish variant late infantile
ORPHA:228366: vLINCL
ORPHA:228371: Foodborne botulism
ORPHA:228371: Intoxication botulism
ORPHA:228374: Charcot-Marie-Tooth disease type 2B5
ORPHA:228374: AR-CMT2B5
ORPHA:228374: Autosomal recessive Charcot-Marie-Tooth disease type 2B5
ORPHA:228374: SEOAN due to NEFL deficiency
ORPHA:228374: Severe early-onset axonal neuropathy due to NEFL deficiency
ORPHA:228374: Severe early-onset axonal neuropathy due to light neurofilament subunit deficiency
ORPHA:228379: Virus-associated trichodysplasia spinulosa
ORPHA:228379: Cyclosporine-induced folliculodystrophy
ORPHA:228379: Pilomatrix dysplasia
ORPHA:228379: TS
ORPHA:228379: Trichodysplasia spinulosa
ORPHA:228379: VATS
ORPHA:228384: 5q14.3 microdeletion syndrome
ORPHA:228384: Del(5)(q14.3)
ORPHA:228384: Monosomy 5q14.3
ORPHA:228387: Spondylo-megaepiphyseal-metaphyseal dysplasia
ORPHA:228390: Frontonasal dysplasia-alopecia-genital anomalies syndrome
ORPHA:228390: ALX4-related FNDAG
ORPHA:228390: Craniofrontonasal dysplasia with alopecia and hypogonadism
ORPHA:228390: Frontonasal dysplasia type 2
ORPHA:228390: Frontonasal dysplasia with alopecia and genital abnomality
ORPHA:228396: Ptosis-upper ocular movement limitation-absence of lacrimal punctum syndrome
ORPHA:228399: 8q12 microduplication syndrome
ORPHA:228399: Dup(8)(q12)
ORPHA:228399: Trisomy 8q12
ORPHA:228402: 2q23.1 microdeletion syndrome
ORPHA:228402: Del(2)(q23.1)
ORPHA:228402: Monosomy 2q23.1
ORPHA:228402: Pseudo-Angelman syndrome
ORPHA:228410: Cardiac anomalies-short stature-joint hypermobility-facial dysmorphism syndrome
ORPHA:228410: PHD syndrome
ORPHA:228410: Polyvalvular heart disease syndrome
ORPHA:228410: TAB2-related syndrome
ORPHA:228415: 5q35 microduplication syndrome
ORPHA:228415: Dup(5)(q35)
ORPHA:228415: Trisomy 5q35
ORPHA:228423: GATA2 deficiency spectrum
ORPHA:228423: GATA binding protein 2 deficiency spectrum
ORPHA:228426: Syndromic multisystem autoimmune disease due to Itch deficiency
ORPHA:2285: Primary basilar invagination
ORPHA:2285: Bull-Nixon syndrome
ORPHA:2287: Fused mandibular incisors
ORPHA:2289: Neuronal intranuclear inclusion disease
ORPHA:229: Familial aortic dissection
ORPHA:229: Annuloaortic ectasia
ORPHA:229: Cystic medial necrosis of aorta
ORPHA:2290: Microvillus inclusion disease
ORPHA:2290: Congenital microvillous atrophy
ORPHA:2290: Congenital microvillus atrophy
ORPHA:2290: MVID
ORPHA:2290: Microvillous inclusion disease
ORPHA:2291: Congenital velopharyngeal incompetence
ORPHA:2295: Familial articular hypermobility syndrome
ORPHA:2295: Familial joint instability syndrome
ORPHA:2295: Familial joint laxity
ORPHA:2295: Joint instability syndrome
ORPHA:2297: Insulin-resistance syndrome type A
ORPHA:229717: Isolated agammaglobulinemia
ORPHA:229717: Isolated hypogammaglobulinemia
ORPHA:229720: Syndromic agammaglobulinemia
ORPHA:2298: Insulin-resistance syndrome type B
ORPHA:2299: Aortic arch interruption
ORPHA:23: Argininosuccinic aciduria
ORPHA:23: ASA deficiency
ORPHA:23: ASL deficiency
ORPHA:23: Argininosuccinase deficiency
ORPHA:23: Argininosuccinatelyase deficiency
ORPHA:23: Argininosuccinic acid lyase deficiency
ORPHA:230: Dopamine beta-hydroxylase deficiency
ORPHA:230: DBH deficiency
ORPHA:2300: Multiple intestinal atresia
ORPHA:2300: Familial intestinal polyatresia syndrome
ORPHA:2301: Congenital short bowel syndrome
ORPHA:2302: Asbestos intoxication
ORPHA:2302: Asbestosis
ORPHA:2305: Isotretinoin syndrome
ORPHA:2305: Isotretinoin embryopathy
ORPHA:2305: Retinoic acid embryopathy
ORPHA:2305: Retinoids embryopathy
ORPHA:2306: Isotretinoin-like syndrome
ORPHA:2306: Kawashima syndrome
ORPHA:2306: Microtia-aortic arch syndrome
ORPHA:2307: IVIC syndrome
ORPHA:2307: Oculo-oto-radial syndrome
ORPHA:2307: Radial ray defects, hearing impairment, external ophthalmoplegia, and thrombocytopenia
ORPHA:2308: Jacobsen syndrome
ORPHA:2308: 11q terminal deletion syndrome
ORPHA:2308: Chromosome 11q deletion syndrome
ORPHA:2308: Del(11)(q23.3)
ORPHA:2308: Del(11)(qter)
ORPHA:2308: Distal deletion 11q
ORPHA:2308: Distal monosomy 11q
ORPHA:2308: Monosomy 11qter
ORPHA:2308: Telomeric deletion 11q
ORPHA:230800: Toxin-mediated infectious botulism
ORPHA:230800: Toxin-mediated infective botulism
ORPHA:230839: Classical-like Ehlers-Danlos syndrome type 1
ORPHA:230839: Classical-like EDS type 1
ORPHA:230839: Ehlers-Danlos syndrome due to tenascin-X deficiency
ORPHA:230839: clEDS type 1
ORPHA:230851: Cardiac-valvular Ehlers-Danlos syndrome
ORPHA:230851: Cardiac-valvular EDS
ORPHA:230851: cvEDS
ORPHA:230857: Ehlers-Danlos/osteogenesis imperfecta syndrome
ORPHA:230857: EDS/OI syndrome
ORPHA:2309: Pachyonychia congenita
ORPHA:2309: PC
ORPHA:231: Dracunculiasis
ORPHA:231: Dracunculosis
ORPHA:231: Guinea worm disease
ORPHA:231: Medina worm disease
ORPHA:231: Medinensis
ORPHA:2310: Absence deformity of leg-cataract syndrome
ORPHA:231013: Congenital trigeminal anesthesia
ORPHA:231031: Erythema palmare hereditarium
ORPHA:231031: Lane disease
ORPHA:231031: Red palms disease
ORPHA:231040: Familial generalized lentiginosis
ORPHA:231040: Familial lentigines profusa
ORPHA:231040: Familial multiple lentigines syndrome without systemic involvement
ORPHA:231080: High-grade dysplasia in patients with Barrett esophagus
ORPHA:2311: Autosomal recessive spondylocostal dysostosis
ORPHA:2311: Jarcho-Levin syndrome
ORPHA:231108: Rhabdoid tumor predisposition syndrome
ORPHA:231108: RTPS
ORPHA:231111: Drug-induced lupus erythematosus
ORPHA:231111: DILE
ORPHA:231117: Beckwith-Wiedemann syndrome due to imprinting defect of 11p15
ORPHA:231120: Beckwith-Wiedemann syndrome due to CDKN1C mutation
ORPHA:231127: Beckwith-Wiedemann syndrome due to 11p15 microdeletion
ORPHA:231130: Beckwith-Wiedemann syndrome due to 11p15 translocation/inversion
ORPHA:231137: Silver-Russell syndrome due to 7p11.2p13 microduplication
ORPHA:231137: Silver-Russell syndrome due to 7p11.2-p13 microduplication
ORPHA:231137: Silver-Russell syndrome due to dup(7)(p11.2p13)
ORPHA:231137: Silver-Russell syndrome due to trisomy 7p11.2-p13
ORPHA:231137: Silver-Russell syndrome due to trisomy 7p11.2p13
ORPHA:231140: Silver-Russell syndrome due to an imprinting defect of 11p15
ORPHA:231144: Silver-Russell syndrome due to 11p15 microduplication
ORPHA:231147: Silver-Russell syndrome due to maternal uniparental disomy of chromosome 11
ORPHA:231147: UPD(11)mat
ORPHA:231154: Combined immunodeficiency due to partial RAG1 deficiency
ORPHA:231154: CID due to partial RAG1 deficiency
ORPHA:231154: CID with expansion of gamma delta T cells
ORPHA:231154: Combined immunodeficiency with expansion of gamma delta T cells
ORPHA:231160: Familial cerebral saccular aneurysm
ORPHA:231160: Familial berry aneurysm
ORPHA:231160: Familial intracranial saccular aneurysm
ORPHA:231169: Usher syndrome type 1
ORPHA:231169: USH1
ORPHA:231178: Usher syndrome type 2
ORPHA:231178: USH2
ORPHA:231183: Usher syndrome type 3
ORPHA:231183: USH3
ORPHA:2312: Transient familial neonatal hyperbilirubinemia
ORPHA:2312: Lucey-Driscoll syndrome
ORPHA:231214: Beta-thalassemia major
ORPHA:231214: Cooley anemia
ORPHA:231214: Mediterranean anemia
ORPHA:231222: Beta-thalassemia intermedia
ORPHA:231226: Dominant beta-thalassemia
ORPHA:231226: Inclusion body beta-thalassemia
ORPHA:231230: Beta-thalassemia associated with another hemoglobin anomaly
ORPHA:231230: Beta-thalassemia associated with another Hb anomaly
ORPHA:231237: Delta-beta-thalassemia
ORPHA:231242: Hemoglobin C-beta-thalassemia syndrome
ORPHA:231242: C-beta-thalassemia
ORPHA:231242: HbC-beta-thalassemia syndrome
ORPHA:231249: Hemoglobin E-beta-thalassemia syndrome
ORPHA:231249: E-beta-thalassemia
ORPHA:231249: HbE-beta-thalassemia syndrome
ORPHA:231386: Beta-thalassemia with other manifestations
ORPHA:231393: Beta-thalassemia-X-linked thrombocytopenia syndrome
ORPHA:231393: XLTT
ORPHA:2314: Autosomal dominant hyper-IgE syndrome due to STAT3 deficiency
ORPHA:2314: AD-HIES due to STAT3 deficiency
ORPHA:2314: Autosomal dominant HIES due to STAT3 deficiency
ORPHA:2314: Autosomal dominant hyperimmunoglobulin E syndrome due to signal transducer and activator of transcription 3 protein deficiency
ORPHA:2314: Buckley syndrome
ORPHA:2314: Job syndrome
ORPHA:231401: Alpha-thalassemia-myelodysplastic syndrome
ORPHA:231401: ATMDS
ORPHA:231401: Acquired HbH disease
ORPHA:231401: Acquired hemoglobin H disease
ORPHA:231413: Variant of Guillain-Barré syndrome
ORPHA:231413: Variant of GBS
ORPHA:231416: Regional variant of Guillain-Barré syndrome
ORPHA:231416: Regional variant of GBS
ORPHA:231419: Functional variant of Guillain-Barré syndrome
ORPHA:231419: Functional variant of GBS
ORPHA:231426: Pharyngeal-cervical-brachial variant of Guillain-Barré syndrome
ORPHA:231426: PCB variant of GBS
ORPHA:231426: PCB variant of Guillain-Barré syndrome
ORPHA:231426: Pharyngeal-cervical-brachial weakness
ORPHA:231426: Pharyngo-cervico-brachial variant of GBS
ORPHA:231426: Pharyngo-cervico-brachial variant of Guillain-Barré syndrome
ORPHA:231445: Paraparetic variant of Guillain-Barré syndrome
ORPHA:231445: Paraparetic variant of GBS
ORPHA:231450: Acute pure sensory neuropathy