TaoMedAI/RareMedData huggingface dataset:
ORPHA:231450: Acute pure sensory GBS
ORPHA:231450: Acute pure sensory Guillain-Barré syndrome
ORPHA:231457: Acute pandysautonomia
ORPHA:231457: Acute panautonomic GBS
ORPHA:231457: Acute panautonomic Guillain-Barré syndrome
ORPHA:231457: Acute panautonomic neuropathy
ORPHA:231466: Acute sensory ataxic neuropathy
ORPHA:231466: ASAN
ORPHA:231466: Acute sensory ataxic GBS
ORPHA:231466: Acute sensory ataxic Guillain-Barré syndrome
ORPHA:2315: Johanson-Blizzard syndrome
ORPHA:2315: JBS
ORPHA:231500: Hermansky-Pudlak syndrome due to BLOC-3 deficiency
ORPHA:231500: HPS with pulmonary fibrosis
ORPHA:231500: Hermansky-Pudlak syndrome with pulmonary fibrosis
ORPHA:231512: Hermansky-Pudlak syndrome due to BLOC-2 deficiency
ORPHA:231512: HPS without pulmonary fibrosis
ORPHA:231512: Hermansky-Pudlak syndrome without pulmonary fibrosis
ORPHA:231531: Hermansky-Pudlak syndrome due to BLOC-1 deficiency
ORPHA:231556: Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome
ORPHA:231556: Late-onset localized JEB-intellectual disability syndrome
ORPHA:231568: Autosomal dominant generalized dystrophic epidermolysis bullosa
ORPHA:231568: Generalized DDEB
ORPHA:231573: Congenital erosive and vesicular dermatosis
ORPHA:231573: CEVD
ORPHA:231573: Congenital erosive and vesicular dermatosis with reticulated supple scarring
ORPHA:231580: Primary unilateral adrenal hyperplasia
ORPHA:231580: PUAH
ORPHA:2316: Johnson neuroectodermal syndrome
ORPHA:2316: Alopecia-anosmia-conductive hearing loss-hypogonadism syndrome
ORPHA:2316: Alopecia-anosmia-deafness-hypogonadism syndrome
ORPHA:2316: Johnson-McMillin syndrome
ORPHA:231625: Adrenocortical carcinoma with pure aldosterone hypersecretion
ORPHA:231625: Pure APAC
ORPHA:231625: Pure aldosterone-producing adrenocortical carcinoma
ORPHA:231625: Pure aldosterone-secreting adrenocortical carcinoma
ORPHA:231632: Ectopic aldosterone-producing tumor
ORPHA:231632: Extra-adrenal aldosterone-producing tumor
ORPHA:231637: Rare surgically correctable form of primary aldosteronism
ORPHA:231641: Rare non surgically correctable form of primary aldosteronism
ORPHA:231662: Isolated growth hormone deficiency type IA
ORPHA:231662: Congenital IGHD type IA
ORPHA:231662: Congenital isolated GH deficiency type IA
ORPHA:231662: Congenital isolated growth hormone deficiency type IA
ORPHA:231671: Isolated growth hormone deficiency type IB
ORPHA:231671: Congenital IGHD type IB
ORPHA:231671: Congenital isolated GH deficiency type IB
ORPHA:231671: Congenital isolated growth hormone deficiency type IB
ORPHA:231679: Isolated growth hormone deficiency type II
ORPHA:231679: Congenital IGHD type II
ORPHA:231679: Congenital isolated GH deficiency type II
ORPHA:231679: Congenital isolated growth hormone deficiency type II
ORPHA:231692: Isolated growth hormone deficiency type III
ORPHA:231692: Congenital IGHD type III
ORPHA:231692: Congenital isolated GH deficiency type III
ORPHA:231692: Congenital isolated growth hormone deficiency type III
ORPHA:231692: X-linked IGHD
ORPHA:231692: X-linked isolated growth hormone deficiency
ORPHA:231720: Non-acquired combined pituitary hormone deficiency-sensorineural hearing loss-spine abnormalities syndrome
ORPHA:231720: Non-acquired combined pituitary hormone deficiency-deafness-rigid cervical spine syndrome
ORPHA:231736: Microcornea-posterior megalolenticonus-persistent fetal vasculature-coloboma syndrome
ORPHA:231736: MPPC syndrome
ORPHA:231742: Epibulbar lipodermoid-preauricular appendage-polythelia syndrome
ORPHA:2318: Joubert syndrome with oculorenal defect
ORPHA:2318: Arima syndrome
ORPHA:2318: CORS
ORPHA:2318: Cerebellooculorenal syndrome
ORPHA:2318: Dekaban-Arima syndrome
ORPHA:2318: JS type B
ORPHA:2318: JS-OR
ORPHA:2318: Joubert syndrome with Senior-Loken syndrome
ORPHA:2319: Juberg-Hayward syndrome
ORPHA:2319: Cleft lip/palate-abnormal thumbs-microcephaly syndrome
ORPHA:2319: Orocraniodigital syndrome
ORPHA:232: Sickle cell anemia
ORPHA:232035: Infectious embryofetopathy
ORPHA:2321: Jung syndrome
ORPHA:2322: Kabuki syndrome
ORPHA:2322: Kabuki make-up syndrome
ORPHA:2322: Niikawa-Kuroki syndrome
ORPHA:232288: Syndrome with alpha-thalassemia as a major feature
ORPHA:2323: Sanjad-Sakati syndrome
ORPHA:2323: HRD syndrome
ORPHA:2323: Hypoparathyroidism-intellectual disability-dysmorphism syndrome
ORPHA:2323: Hypoparathyroidism-short stature-intellectual disability-seizures syndrome
ORPHA:2323: Richardson-Kirk syndrome
ORPHA:2323: SSS
ORPHA:2324: Osteopenia-intellectual disability-sparse hair syndrome
ORPHA:2324: Kaler-Garrity-Stern syndrome
ORPHA:2325: Epidermolysis bullosa simplex with anodontia/hypodontia
ORPHA:2325: EBS with anodontia/hypodontia
ORPHA:2325: Kallin syndrome
ORPHA:2326: Kallmann syndrome-heart disease syndrome
ORPHA:2328: Kapur-Toriello syndrome
ORPHA:2328: Cleft lip/palate-facial, eye, heart and intestinal anomalies syndrome
ORPHA:2329: Karsch-Neugebauer syndrome
ORPHA:2329: Split hand/split foot-nystagmus syndrome
ORPHA:233: Duane retraction syndrome
ORPHA:233: DRS
ORPHA:233: DURS
ORPHA:233: Duane syndrome
ORPHA:233: Stilling-Turk-Duane syndrome
ORPHA:2330: Kasabach-Merritt phenomenon
ORPHA:2330: Hemangioma-thrombocytopenia syndrome
ORPHA:2331: Kawasaki disease
ORPHA:2331: Mucocutaneous lymph node syndrome
ORPHA:2332: KBG syndrome
ORPHA:2332: ANKRD11-related disorder
ORPHA:2332: Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome
ORPHA:2333: Kenny-Caffey syndrome
ORPHA:2333: Kenny syndrome
ORPHA:2334: Autosomal dominant keratitis
ORPHA:2334: Hereditary keratitis
ORPHA:233655: Rare genetic vascular disease
ORPHA:2337: Diffuse palmoplantar keratoderma, Bothnian type
ORPHA:2337: Diffuse palmoplantar keratoderma, Bothnia type
ORPHA:2337: NEPPK, Bothnia type
ORPHA:2337: NEPPK, Bothnian type
ORPHA:2338: Isolated punctate palmoplantar keratoderma
ORPHA:2338: Isolated punctate PPK
ORPHA:2338: Isolated punctate palmoplantar hyperkeratosis
ORPHA:2339: Keratosis follicularis-dwarfism-cerebral atrophy syndrome
ORPHA:234: Dubin-Johnson syndrome
ORPHA:234: Dubin-Sprinz disease
ORPHA:234: Hyperbilirubinemia type 2
ORPHA:234: Sprinz-Nelson syndrome
ORPHA:2340: Keratosis follicularis spinulosa decalvans
ORPHA:2342: Haim-Munk syndrome
ORPHA:2342: Keratosis palmoplantaris-periodontopathia-onychogryposis syndrome
ORPHA:2342: Palmoplantar hyperkeratosis-periodontopathia-onychogryposis syndrome
ORPHA:2342: Palmoplantar keratoderma-periodontopathia-onychogryposis syndrome
ORPHA:2345: Isolated Klippel-Feil syndrome
ORPHA:2345: Congenital cervical vertebral fusion
ORPHA:2345: Congenital fused cervical segments
ORPHA:2345: Klippel-Feil malformation
ORPHA:2345: Klippel-Feil sequence
ORPHA:2346: Angioosteohypertrophic syndrome
ORPHA:2346: Klippel-Trénaunay-Weber syndrome
ORPHA:2347: Lethal Kniest-like dysplasia
ORPHA:2348: Familial partial lipodystrophy, Dunnigan type
ORPHA:2348: Dunnigan syndrome
ORPHA:2348: FPLD2
ORPHA:2348: Familial partial lipodystrophy type 2
ORPHA:2349: Muscular pseudohypertrophy-hypothyroidism syndrome
ORPHA:2349: Hoffmann syndrome
ORPHA:2349: Kocher-Debré-Semelaigne syndrome
ORPHA:235: Dubowitz syndrome
ORPHA:2351: Kousseff syndrome
ORPHA:2351: Sacral meningocele-conotruncal heart defects syndrome
ORPHA:2353: Schilbach-Rott syndrome
ORPHA:2353: BRSS
ORPHA:2353: Hypotelorism-cleft palate-hypospadias syndrome
ORPHA:2356: Arachnoid cyst
ORPHA:2357: Bronchogenic cyst
ORPHA:235832: Congenital vascular bone syndrome
ORPHA:235936: Familial hyperaldosteronism
ORPHA:235936: FH
ORPHA:236: Trisomy 9p syndrome
ORPHA:236: Duplication 9p
ORPHA:236: Duplication of the short arm of chromosome 9
ORPHA:236: Trisomy of the short arm of chromosome 9
ORPHA:2363: Lacrimoauriculodentodigital syndrome
ORPHA:2363: LADD syndrome
ORPHA:2363: LARD syndrome
ORPHA:2363: Lacrimoauriculoradiodental syndrome
ORPHA:2363: Levy-Hollister syndrome
ORPHA:2364: Glycogen storage disease due to lactate dehydrogenase deficiency
ORPHA:2364: GSD due to lactate dehydrogenase deficiency
ORPHA:2364: Glycogenosis due to lactate dehydrogenase deficiency
ORPHA:2364: LDH deficiency
ORPHA:2368: Gastroschisis
ORPHA:2368: Laparoschisis
ORPHA:2369: Limb body wall complex
ORPHA:2369: Body stalk anomaly
ORPHA:2369: LBWC syndrome
ORPHA:237: Duplication of urethra
ORPHA:2370: Larsen-like osseous dysplasia-short stature syndrome
ORPHA:2371: Lethal Larsen-like syndrome
ORPHA:2372: Laryngocele
ORPHA:2373: Congenital laryngomalacia
ORPHA:2374: Isolated congenital laryngeal web
ORPHA:2375: Laryngeal abductor paralysis-intellectual disability syndrome
ORPHA:2375: Plott syndrome
ORPHA:2377: Laurence-Moon syndrome
ORPHA:2377: LMS
ORPHA:2378: Laurin-Sandrow syndrome
ORPHA:2378: Mirror hands and feets-nasal defects syndrome
ORPHA:2378: Sandrow syndrome
ORPHA:2379: Early-onset parkinsonism-intellectual disability syndrome
ORPHA:2379: Laxova-Opitz syndrome
ORPHA:2379: Waisman syndrome
ORPHA:2380: Legg-Calvé-Perthes disease
ORPHA:2380: Aseptic necrosis of the capital femoral epiphysis
ORPHA:2380: Osteochondrosis of the capital femoral epiphysis
ORPHA:2380: Perthes disease
ORPHA:2382: Lennox-Gastaut syndrome
ORPHA:238269: AApoAII amyloidosis
ORPHA:238269: Apolipoprotein A-II amyloidosis
ORPHA:238269: Familial amyloid nephropathy due to apolipoprotein A-II variant
ORPHA:238269: Familial renal amyloidosis due to apolipoprotein A-II variant
ORPHA:238269: Hereditary amyloid nephropathy due to apolipoprotein A-II variant
ORPHA:238269: Hereditary renal amyloidosis due to apolipoprotein A-II variant
ORPHA:238305: Infundibulo-neurohypophysitis
ORPHA:238329: Severe X-linked mitochondrial encephalomyopathy
ORPHA:238329: Mitochondrial encephalomyopathy due to COXPD6
ORPHA:238329: Mitochondrial encephalomyopathy due to combined oxidative phosphorylation defect 6
ORPHA:238446: 15q11q13 microduplication syndrome
ORPHA:238446: 15q11q13 duplication syndrome
ORPHA:238446: Dup(15)(q11q13)
ORPHA:238446: Trisomy 15q11q13
ORPHA:238455: Infantile dystonia-parkinsonism
ORPHA:238455: DTDS
ORPHA:238455: Dopamine transporter deficiency syndrome
ORPHA:238455: IPD
ORPHA:238455: PKDYS
ORPHA:238459: SLC35A1-CDG
ORPHA:238459: CDG syndrome type IIf
ORPHA:238459: CDG-IIf
ORPHA:238459: CDG2F
ORPHA:238459: CMP-sialic acid transporter deficiency
ORPHA:238459: Carbohydrate deficient glycoprotein syndrome type IIf
ORPHA:238459: Congenital disorder of glycosylation type 2f
ORPHA:238459: Congenital disorder of glycosylation type IIf
ORPHA:238468: Hypohidrotic ectodermal dysplasia
ORPHA:238468: Anhidrotic ectodermal dysplasia
ORPHA:238468: HED
ORPHA:238475: Familial hypercholanemia
ORPHA:238475: Hereditary hypercholanemia
ORPHA:238505: Combined immunodeficiency due to CD27 deficiency
ORPHA:238505: Autosomal recessive lymphoproliferative disease due to CD27 deficiency
ORPHA:238505: CD27 deficiency
ORPHA:238517: Hypotonia-cystinuria type 1 syndrome
ORPHA:238523: Atypical hypotonia-cystinuria syndrome
ORPHA:238523: Atypical HCS
ORPHA:238536: Congenital secondary polycythemia
ORPHA:238536: Congenital secondary erythrocytosis
ORPHA:238547: Acquired secondary polycythemia
ORPHA:238547: Acquired secondary erythrocytosis
ORPHA:238557: Chuvash erythrocytosis
ORPHA:238557: Chuvash polycythemia
ORPHA:238557: Von Hippel-Lindau-dependent polycythemia
ORPHA:238569: Immune dysregulation-inflammatory bowel disease-arthritis-recurrent infections syndrome
ORPHA:238569: IL10-related early-onset IBD
ORPHA:238569: IL10-related early-onset inflammatory bowel disease
ORPHA:238578: Familial clubfoot due to 17q23.1q23.2 microduplication
ORPHA:238578: Hereditary clubfoot due to 17q23.1-q23.2 microduplication
ORPHA:238583: Hyperphenylalaninemia due to tetrahydrobiopterin deficiency
ORPHA:238583: Hyperphenylalaninemia due to BH4 deficiency
ORPHA:238593: IgG4-related mesenteritis
ORPHA:238593: Isolated mesenteric lipodystrophy
ORPHA:238593: Lipomatous mesenteritis
ORPHA:238593: Liposclerotic mesenteritis
ORPHA:238593: Mesenteric lipogranuloma
ORPHA:238593: Mesenteric panniculitis
ORPHA:238593: Sclerosing mesenteritis
ORPHA:2386: Leukoencephalopathy-palmoplantar keratoderma syndrome
ORPHA:238606: Primary orthostatic tremor
ORPHA:238606: POT
ORPHA:238613: Beckwith-Wiedemann syndrome due to NSD1 mutation
ORPHA:238621: Ileal pouch anal anastomosis related faecal incontinence
ORPHA:238624: Idiopathic intracranial hypertension
ORPHA:238624: Benign intracranial hypertension
ORPHA:238624: IIH
ORPHA:238624: Pseudotumor cerebri
ORPHA:238637: Megacystis-megaureter syndrome
ORPHA:238637: Megaureter-megacystis syndrome
ORPHA:238642: Primary megaureter, adult-onset form
ORPHA:238646: Congenital primary megaureter, obstructed form
ORPHA:238650: Congenital primary megaureter, refluxing form
ORPHA:238654: Congenital primary megaureter, nonrefluxing and unobstructed form
ORPHA:238666: Isolated congenital hypogonadotropic hypogonadism
ORPHA:238666: Gonadotropic deficiency
ORPHA:238666: Isolated congenital gonadotropin deficiency
ORPHA:238666: Isolated gonadotropin-releasing hormone deficiency
ORPHA:238670: Isolated thyrotropin-releasing hormone deficiency
ORPHA:238670: Isolated TRF deficiency
ORPHA:238670: Isolated TRH deficiency
ORPHA:238670: Isolated TSH-releasing factor deficiency
ORPHA:238670: Isolated prothyroliberin deficiency
ORPHA:238670: Isolated protirelin deficiency
ORPHA:238670: Isolated thyroliberin deficiency
ORPHA:238670: Isolated thyrotropin-releasing factor deficiency
ORPHA:238688: Neonatal iodine exposure
ORPHA:238696: Transient congenital hypothyroidism due to maternal factor
ORPHA:238699: Transient congenital hypothyroidism due to neonatal factor
ORPHA:2387: Leukonychia totalis
ORPHA:238722: Familial congenital mirror movements
ORPHA:238722: Familial congenital controlateral synkinesia
ORPHA:238722: Hereditary congenital controlateral synkinesia
ORPHA:238722: Hereditary congenital mirror movements
ORPHA:238722: Isolated congenital controlateral synkinesia
ORPHA:238722: Isolated congenital mirror movements
ORPHA:238744: Mammary-digital-nail syndrome
ORPHA:238744: MDN syndrome
ORPHA:238744: Onycho-digito-mammary syndrome
ORPHA:238750: 4q21 microdeletion syndrome
ORPHA:238750: Del(4)(q21)
ORPHA:238750: Monosomy 4q21
ORPHA:238763: Glaucoma secondary to spherophakia/ectopia lentis and megalocornea
ORPHA:238763: Megalocornea-spherophakia-secondary glaucoma syndrome
ORPHA:238769: 1q44 microdeletion syndrome
ORPHA:238769: Del(1)(q44)
ORPHA:238769: Monosomy 1q44
ORPHA:2388: Choreoacanthocytosis
ORPHA:2388: ChAc
ORPHA:2388: Chorea-acanthocytosis
ORPHA:2388: Levine-Critchley syndrome
ORPHA:239: Dyggve-Melchior-Clausen disease
ORPHA:2390: Lichtenstein syndrome
ORPHA:2391: Congenitally short costocoracoid ligament
ORPHA:2394: Pyruvate dehydrogenase E3 deficiency
ORPHA:2394: DLD deficiency
ORPHA:2394: Dihydrolipoamide dehydrogenase deficiency
ORPHA:2394: E3-deficient maple syrup urine disease
ORPHA:2396: Encephalocraniocutaneous lipomatosis
ORPHA:2396: Haberland syndrome
ORPHA:2398: Multiple symmetric lipomatosis
ORPHA:2398: Cephalothoracic lipodystrophy
ORPHA:2398: Familial benign cervical lipomatosis
ORPHA:2398: Launois-Bensaude lipomatosis
ORPHA:2398: Madelung disease
ORPHA:2399: Nasopalpebral lipoma-coloboma syndrome
ORPHA:24: Fumaric aciduria
ORPHA:24: Fumarase deficiency
ORPHA:240: Léri-Weill dyschondrosteosis
ORPHA:240: Léri-Weill syndrome
ORPHA:2400: Peripheral motor neuropathy-dysautonomia syndrome
ORPHA:2400: Lisker-Garcia-Ramos syndrome
ORPHA:240071: Classic progressive supranuclear palsy syndrome
ORPHA:240071: Classic PSP syndrome
ORPHA:240071: Richardson syndrome
ORPHA:240071: Steele-Richardson-Olszewski disease
ORPHA:240085: Progressive supranuclear palsy-predominant parkinsonism syndrome
ORPHA:240085: PSP-p
ORPHA:240085: PSP-parkinsonism
ORPHA:240094: Progressive supranuclear palsy-pure akinesia with gait freezing syndrome
ORPHA:240094: PSP-PAGF
ORPHA:240094: PSP-pure akinesia with gait freezing
ORPHA:240103: Progressive supranuclear palsy-corticobasal syndrome
ORPHA:240103: PSP-CBS
ORPHA:240103: PSP-corticobasal syndrome
ORPHA:240112: Progressive supranuclear palsy-progressive non-fluent aphasia syndrome
ORPHA:240112: PSP-AOS
ORPHA:240112: PSP-PNFA
ORPHA:240112: Progressive supranuclear palsy-apraxia of speech syndrome
ORPHA:240371: Syndromic obesity
ORPHA:2404: Loiasis
ORPHA:2405: Thickened earlobes-conductive deafness syndrome
ORPHA:2405: Escher-Hirt syndrome
ORPHA:2405: Thickened earlobes-conductive hearing loss syndrome
ORPHA:2406: Locked-in syndrome
ORPHA:2406: LIS
ORPHA:2406: Pseudocoma
ORPHA:2407: Laryngo-onycho-cutaneous syndrome
ORPHA:2407: LOC syndrome
ORPHA:2407: LOGIC syndrome
ORPHA:2407: Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome
ORPHA:2407: Shabbir syndrome
ORPHA:240760: Nijmegen breakage syndrome-like disorder
ORPHA:240760: Microcephaly and chromosomal instability without immunodeficiency
ORPHA:240760: NBS-like disorder
ORPHA:240760: NBSLD
ORPHA:240760: RAD50 deficiency
ORPHA:2408: Lowe-Kohn-Cohen syndrome
ORPHA:2408: Deafness-nephritis-ano-rectal malformation syndrome
ORPHA:2408: Hearing loss-nephritis-ano-rectal malformation syndrome
ORPHA:2409: Lowry-MacLean syndrome
ORPHA:241: Dyschromatosis universalis hereditaria
ORPHA:2410: Hypergonadotropic hypogonadism-cataract syndrome
ORPHA:2410: Lubinsky syndrome
ORPHA:2412: Dislocation of the hip-dysmorphism syndrome
ORPHA:2412: Collins-Pope syndrome
ORPHA:2414: Congenital pulmonary lymphangiectasia
ORPHA:2414: Pulmonary lymphangiomatosis
ORPHA:2415: Rare lymphatic malformation
ORPHA:2415: LM
ORPHA:2415: Lymphangioma
ORPHA:2416: Congenital primary lymphedema without systemic or visceral involvement
ORPHA:242: 46,XY complete gonadal dysgenesis
ORPHA:242: 46,XY CGD
ORPHA:242: 46,XY pure gonadal dysgenesis
ORPHA:242: Swyer syndrome
ORPHA:2420: Primary pulmonary lymphoma
ORPHA:2427: Macrocephaly-short stature-paraplegia syndrome
ORPHA:2427: Volcke-Soekarman syndrome
ORPHA:2429: Macrocephaly-spastic paraplegia-dysmorphism syndrome
ORPHA:2429: Fryns macrocephaly
ORPHA:243: 46,XX gonadal dysgenesis
ORPHA:243: 46,XX complete gonadal dysgenesis
ORPHA:243: 46,XX ovarian dysgenesis
ORPHA:243: 46,XX pure gonadal dysgenesis
ORPHA:243: Hypergonadotropic ovarian dysgenesis
ORPHA:243: XX female gonadal dysgenesis
ORPHA:243: XX-GD
ORPHA:2430: Congenital macroglossia
ORPHA:2432: Macrosomia-microphthalmia-cleft palate syndrome
ORPHA:2432: Teebi-Al Saleh-Hassoon syndrome
ORPHA:243343: Dimethylglycine dehydrogenase deficiency
ORPHA:243343: DMG dehydrogenase deficiency
ORPHA:243343: DMGDH deficiency
ORPHA:243367: Acute fatty liver of pregnancy
ORPHA:243367: AFLP
ORPHA:2435: Hypo- and hypermelanotic cutaneous macules-retarded growth-intellectual disability syndrome
ORPHA:2435: Westerhof-Beemer-Cormane syndrome
ORPHA:2437: Czeizel-Losonci syndrome
ORPHA:2437: Split hand with obstructive uropathy, spina bifida and diaphragmatic defects
ORPHA:2437: Split hand-urinary anomalies-spina bifida syndrome
ORPHA:2438: Hand-foot-genital syndrome
ORPHA:2438: HFGS
ORPHA:2438: Hand-foot-uterus syndrome
ORPHA:2439: Patterson-Stevenson-Fontaine syndrome
ORPHA:2439: Patterson-Stevenson syndrome
ORPHA:2439: Split foot deformity-mandibulofacial dysostosis syndrome
ORPHA:244: Primary ciliary dyskinesia
ORPHA:244: PCD
ORPHA:2440: Isolated split hand-split foot malformation
ORPHA:2440: Ectrodactyly
ORPHA:2440: SHFM
ORPHA:2440: Split hand foot malformation
ORPHA:2442: X-linked lymphoproliferative disease
ORPHA:2442: Duncan disease
ORPHA:2442: Purtilo syndrome
ORPHA:2442: XLP
ORPHA:244242: HELLP syndrome
ORPHA:244242: Hemolysis, elevated liver enzymes, low platelets in pregnancy
ORPHA:244242: Hemolysis-elevated liver enzymes-low platelets syndrome
ORPHA:244275: De novo thrombotic microangiopathy after kidney transplantation
ORPHA:244283: Biliary atresia with splenic malformation syndrome
ORPHA:244283: BASM syndrome
ORPHA:2443: Mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies
ORPHA:2443: Mitochondrial oxidative phosphorylation disorder due to nDNA anomalies
ORPHA:2443: OXPHOS disease due to nDNA anomalies
ORPHA:2443: OXPHOS disease due to nuclear DNA anomalies
ORPHA:244305: Dominant hypophosphatemia with nephrolithiasis or osteoporosis
ORPHA:244310: RFT1-CDG
ORPHA:244310: CDG syndrome type In
ORPHA:244310: CDG-In
ORPHA:244310: CDG1N
ORPHA:244310: Carbohydrate deficient glycoprotein syndrome type In
ORPHA:244310: Congenital disorder of glycosylation type 1n
ORPHA:244310: Congenital disorder of glycosylation type In
ORPHA:244310: Man5GlcNAc2-PP-Dol flippase deficiency
ORPHA:2444: Congenital pulmonary airway malformation
ORPHA:2444: CCAM
ORPHA:2444: CPAM
ORPHA:2444: Congenital cystic adenomatoid malformation of the lung
ORPHA:2444: Congenital cystic adenomatous malformation of the lung
ORPHA:2444: Congenital cystic disease of the lung
ORPHA:2445: Conotruncal heart malformations
ORPHA:2447: Congenital mitral malformation
ORPHA:245: Nager syndrome
ORPHA:245: Mandibulofacial dysostosis with preaxial limb anomalies
ORPHA:245: NAFD
ORPHA:245: Nager acrofacial dysostosis
ORPHA:245: Preaxial acrodysostosis
ORPHA:2451: Mucocutaneous venous malformations
ORPHA:2451: Cutaneous and mucosal venous malformation
ORPHA:2451: VMCM
ORPHA:2456: Familial supernumerary nipples
ORPHA:2456: Isolated polythelia
ORPHA:2457: Mandibuloacral dysplasia
ORPHA:2457: MAD
ORPHA:2459: Mansonelliasis
ORPHA:2459: Mansonellosis
ORPHA:246: Postaxial acrofacial dysostosis
ORPHA:246: Acrofacial dysostosis, Genee-Wiedemann type
ORPHA:246: Mandibulofacial dysostosis with postaxial limb anomalies
ORPHA:246: Miller syndrome
ORPHA:246: POADS
ORPHA:246: Postaxial acrodysostosis
ORPHA:2460: Van den Ende-Gupta syndrome
ORPHA:2460: Marden-Walker-like syndrome
ORPHA:2460: VDEGS
ORPHA:2461: Marden-Walker syndrome
ORPHA:2462: Shprintzen-Goldberg syndrome
ORPHA:2462: Marfanoid craniosynostosis syndrome
ORPHA:2462: SGS
ORPHA:2463: Marfanoid habitus-autosomal recessive intellectual disability syndrome
ORPHA:2463: Fragoso-Cantú syndrome
ORPHA:2464: Marfanoid syndrome, De Silva type
ORPHA:2466: MASA syndrome
ORPHA:2466: Intellectual disability-aphasia-shuffling gait-adducted thumbs syndrome
ORPHA:2467: Systemic mastocytosis
ORPHA:247: Inherited arrhythmogenic cardiomyopathy
ORPHA:247: Arrhythmogenic right ventricular cardiomyopathy
ORPHA:2470: Matthew-Wood syndrome
ORPHA:2470: Anophthalmia-pulmonary hypoplasia syndrome
ORPHA:2470: PDAC syndrome
ORPHA:2470: Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect syndrome
ORPHA:2470: Spear syndrome
ORPHA:2471: McDonough syndrome
ORPHA:247165: Infantile mercury poisoning
ORPHA:247165: Erythroedema polyneuritis
ORPHA:247165: Feer disease
ORPHA:247165: Infantile acrodynia
ORPHA:247165: Infantile mercury intoxication
ORPHA:247165: Pink disease
ORPHA:247165: Swift disease
ORPHA:247165: Swift-Feer disease
ORPHA:247198: Progressive cerebello-cerebral atrophy
ORPHA:247198: PCCA
ORPHA:247203: Collecting duct carcinoma
ORPHA:247203: BDC
ORPHA:247203: Bellini carcinoma
ORPHA:247203: Bellini duct carcinoma
ORPHA:247203: CDC
ORPHA:247234: Sporadic adult-onset ataxia of unknown etiology
ORPHA:247234: Idiopathic late-onset cerebellar ataxia
ORPHA:247234: SAOA
ORPHA:247239: Non-hereditary degenerative ataxia
ORPHA:247242: Acquired ataxia
ORPHA:247245: Superficial siderosis
ORPHA:247245: Hemosiderosis of the central nervous system
ORPHA:247245: Superficial hemosiderosis of the CNS
ORPHA:247245: Superficial hemosiderosis of the central nervous system
ORPHA:247245: Superficial siderosis of the CNS
ORPHA:247245: Superficial siderosis of the central nervous system
ORPHA:247257: Inhalational anthrax
ORPHA:247257: Inhalation anthrax disease
ORPHA:247257: Pulmonary anthrax
ORPHA:247257: Respiratory anthrax
ORPHA:247257: Respiratory anthrax disease
ORPHA:247262: Hyperphosphatasia-intellectual disability syndrome
ORPHA:247262: Mabry syndrome
ORPHA:2473: McKusick-Kaufman syndrome
ORPHA:2473: Hydrometrocolpos-postaxial polydactyly syndrome
ORPHA:2473: Kaufman-Mckusick syndrome
ORPHA:247353: Generalized pustular psoriasis
ORPHA:247353: GPP
ORPHA:247378: Autosomal recessive secondary polycythemia not associated with VHL gene
ORPHA:247378: Autosomal recessive secondary erythrocytosis not associated with VHL gene
ORPHA:247378: Autosomal recessive secondary erythrocytosis, non-Chuvash type
ORPHA:247378: Autosomal recessive secondary polycythemia, non-Chuvash type
ORPHA:2475: White forelock with malformations
ORPHA:247511: Autosomal dominant secondary polycythemia