TaoMedAI/RareMedData huggingface dataset:
ORPHA:309319: Disorder of sialic acid metabolism
ORPHA:309324: Free sialic acid storage disease, infantile form
ORPHA:309324: ISSD
ORPHA:309331: Intermediate severe Salla disease
ORPHA:309334: Salla disease
ORPHA:309337: Lysosomal glycogen storage disease
ORPHA:309340: Disorder of lysosomal-related organelles
ORPHA:309347: Disorder of protein N-glycosylation
ORPHA:309447: Disorder of protein O-glycosylation
ORPHA:309450: Disorder of O-xylosylglycan synthesis
ORPHA:309458: Disorder of O-N-acetylgalactosaminylglycan synthesis
ORPHA:309463: Disorder of O-xylosyl/N-acetylgalactosaminylglycan synthesis
ORPHA:309469: Disorder of O-mannosylglycan synthesis
ORPHA:3095: Atypical Rett syndrome
ORPHA:3095: Atypical RTT
ORPHA:3095: Rett syndrome variant
ORPHA:309505: Disorder of fucoglycosan synthesis
ORPHA:309515: Disorder of glycosphingolipid and glycosylphosphatidylinositol anchor glycosylation
ORPHA:309515: Disorder of glycosphingolipid and GPI-anchored proteins glycosylation
ORPHA:309526: Disorder of multiple glycosylation
ORPHA:309568: Defect in conserved oligomeric Golgi complex
ORPHA:309568: Defect in COG complex
ORPHA:3096: Reye syndrome
ORPHA:3097: Meacham syndrome
ORPHA:3097: Meacham-Winn-Culler syndrome
ORPHA:3097: Rhabdomyomatous dysplasia-cardiopathy-genital anomalies syndrome
ORPHA:309778: Defect in V-ATPase
ORPHA:309789: Rhizomelic chondrodysplasia punctata type 1
ORPHA:309796: Rhizomelic chondrodysplasia punctata type 2
ORPHA:3098: Rhizomelic syndrome, Urbach type
ORPHA:309803: Rhizomelic chondrodysplasia punctata type 3
ORPHA:309810: Disorder of peroxisomal alpha-, beta- and omega-oxidation
ORPHA:309813: Disorder of porphyrin and heme metabolism
ORPHA:309816: Disorder of bilirubin metabolism and excretion
ORPHA:309819: Disorder of pterin metabolism
ORPHA:309824: Disorder of metabolite absorption and transport
ORPHA:309827: Disorder of vitamin and non-protein cofactor absorption and transport
ORPHA:309830: Disorder of catecholamine synthesis
ORPHA:309833: Disorder of other vitamins and cofactors metabolism and transport
ORPHA:309836: Disorder of mineral absorption and transport
ORPHA:309839: Disorder of copper metabolism
ORPHA:309842: Disorder of iron metabolism and transport
ORPHA:309845: Disorder of zinc metabolism and transport
ORPHA:309848: Disorder of magnesium transport
ORPHA:309851: Disorder of manganese transport
ORPHA:309854: Cirrhosis-dystonia-polycythemia-hypermanganesemia syndrome
ORPHA:3099: Rheumatic fever
ORPHA:3099: Acute rheumatic fever
ORPHA:31: Oxoglutaric aciduria
ORPHA:31: Alpha-ketoglutarate dehydrogenase deficiency
ORPHA:310: Reflex epilepsy
ORPHA:310050: Acquired immunodeficiency
ORPHA:3101: Richieri Costa-da Silva syndrome
ORPHA:3101: Myotonia-intellectual disability-skeletal anomalies syndrome
ORPHA:3102: Richieri Costa-Pereira syndrome
ORPHA:3102: Short stature-Pierre Robin sequence-cleft mandible-hand anomalies clubfoot syndrome
ORPHA:3102: Short stature-Pierre Robin syndrome-cleft mandible-hand anomalies clubfoot syndrome
ORPHA:3103: Roberts syndrome
ORPHA:3103: Pseudothalidomide syndrome
ORPHA:3103: Roberts-SC phocomelia syndrome
ORPHA:3103: SC phocomelia
ORPHA:3103: SC pseudothalidomide syndrome
ORPHA:3104: Robin sequence-oligodactyly syndrome
ORPHA:3104: Pierre Robin sequence-oligodactyly syndrome
ORPHA:31043: Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
ORPHA:31043: FHHNC without severe ocular involvement
ORPHA:31043: HOMG3
ORPHA:31043: Renal hypomagnesemia type 3
ORPHA:3107: Autosomal dominant Robinow syndrome
ORPHA:3109: Mayer-Rokitansky-Küster-Hauser syndrome
ORPHA:3109: MRKH syndrome
ORPHA:3109: Rokitansky syndrome
ORPHA:3110: Rombo syndrome
ORPHA:3111: Rotor syndrome
ORPHA:3111: Hyperbilirubinemia, Rotor type
ORPHA:31112: Dermatofibrosarcoma protuberans
ORPHA:31112: DFSP
ORPHA:3115: Roussy-Lévy syndrome
ORPHA:3115: Hereditary areflexic dystasia, Roussy-Lévy type
ORPHA:31150: Tangier disease
ORPHA:31150: ATP-binding cassette transporter A1 deficiency
ORPHA:31150: Analphalipoproteinemia
ORPHA:31153: Hypoalphalipoproteinemia
ORPHA:31154: Hypobetalipoproteinemia
ORPHA:312: Autosomal dominant epidermolytic ichthyosis
ORPHA:312: BCIE
ORPHA:312: Bullous congenital ichthyosiform erythroderma
ORPHA:312: Bullous congenital ichthyosiform erythroderma of Brock
ORPHA:312: Bullous ichthyosis
ORPHA:312: EHK
ORPHA:312: EI
ORPHA:312: Epidermolytic hyperkeratosis
ORPHA:312: Ichthyosis hystrix Brocq type
ORPHA:31202: Melioidosis
ORPHA:31202: Burkholderia pseudomallei infection
ORPHA:31204: Nocardiosis
ORPHA:31205: Rat-bite fever
ORPHA:3121: Ruvalcaba syndrome
ORPHA:3124: Saccharopinuria
ORPHA:3124: Hyperlysinemia type II
ORPHA:3124: Saccharopine dehydrogenase deficiency
ORPHA:3129: Sarcosinemia
ORPHA:3129: Sarcosine dehydrogenase complex deficiency
ORPHA:313: Lamellar ichthyosis
ORPHA:313: LI
ORPHA:3130: Satoyoshi syndrome
ORPHA:3130: Komuragaeri disease
ORPHA:3132: Say-Barber-Miller syndrome
ORPHA:3132: Microcephaly-hypogammaglobulinemia-abnormal immunity syndrome
ORPHA:3134: SCARF syndrome
ORPHA:3137: Alpha-N-acetylgalactosaminidase deficiency
ORPHA:3137: NAGA deficiency
ORPHA:3137: Schindler disease
ORPHA:313772: Early-onset spastic ataxia-myoclonic epilepsy-neuropathy syndrome
ORPHA:313772: AFG3L2-related spastic ataxia-myoclonic epilepsy-neuropathy syndrome
ORPHA:313772: Autosomal recessive spastic ataxia type 5
ORPHA:313772: SPAX5
ORPHA:313781: 20p13 microdeletion syndrome
ORPHA:313781: 20p subtelomeric deletion syndrome
ORPHA:313781: Del(20)(p13)
ORPHA:313781: Monosomy 20p13
ORPHA:313795: Jawad syndrome
ORPHA:3138: Ulnar-mammary syndrome
ORPHA:3138: Pallister ulnar-mammary syndrome
ORPHA:3138: Schinzel syndrome
ORPHA:3138: UMS
ORPHA:313800: Retinal dystrophy-optic nerve edema-splenomegaly-anhidrosis-migraine headache syndrome
ORPHA:313800: Optic nerve edema-splenomegaly syndrome
ORPHA:313800: ROSAH syndrome
ORPHA:313808: Adult-onset leukoencephalopathy with axonal spheroids and pigmented glia
ORPHA:313808: ALSP
ORPHA:313808: Autosomal dominant leukoencephalopathy with neuroaxonal spheroids
ORPHA:313808: FPSG
ORPHA:313808: Familial dementia, Neumann type
ORPHA:313808: Familial progressive subcortical gliosis
ORPHA:313808: GPSC
ORPHA:313808: HDLS
ORPHA:313808: Hereditary diffuse leukoencephalopathy with spheroids
ORPHA:313808: POLD
ORPHA:313808: Pigmentary orthochromatic leukodystrophy
ORPHA:313808: Subcortical gliosis of Neumann
ORPHA:313838: Coats plus syndrome
ORPHA:313838: CRMCC
ORPHA:313838: Cerebroretinal microangiopathy with calcifications and cysts
ORPHA:313846: Familial cutaneous telangiectasia and oropharyngeal cancer predisposition syndrome
ORPHA:313850: Infantile cerebellar-retinal degeneration
ORPHA:313855: FGFR2-related bent bone dysplasia
ORPHA:313855: Perinatal lethal bent bone dysplasia
ORPHA:313884: 12p12.1 microdeletion syndrome
ORPHA:313884: Del(12)(p12.1)
ORPHA:313884: Monosomy 12p12.1
ORPHA:313892: Developmental and speech delay due to SOX5 deficiency
ORPHA:313906: Congenital pancreatic cyst
ORPHA:313906: Neonatal congenital pancreatic cyst
ORPHA:313906: True congenital pancreatic cyst
ORPHA:313920: Epstein-Barr virus-associated gastric carcinoma
ORPHA:313920: EBV-associated gastric carcinoma
ORPHA:313920: EBVaGC
ORPHA:313936: PENS syndrome
ORPHA:313936: Papular epidermal nevi with skyline basal cell layers syndrome
ORPHA:313947: 2q23.1 microduplication syndrome
ORPHA:313947: Dup(2)(q23.1)
ORPHA:313947: Trisomy 2q23.1
ORPHA:314: Erythroderma desquamativum
ORPHA:314: Leiner disease
ORPHA:314002: Contractures-webbed neck-micrognathia-hypoplastic nipples syndrome
ORPHA:314002: Dinno syndrome
ORPHA:314017: Idiopathic linear interstitial keratitis
ORPHA:314022: Gastric adenocarcinoma and proximal polyposis of the stomach
ORPHA:314022: Familial fundic gland polyposis with gastric cancer
ORPHA:314022: GAPPS
ORPHA:314029: High bone mass osteogenesis imperfecta
ORPHA:314029: High bone mass OI
ORPHA:314034: 7p22.1 microduplication syndrome
ORPHA:314034: Dup(7)(p22.1)
ORPHA:314034: Trisomy 7p22.1
ORPHA:314041: Marfanoid habitus-inguinal hernia-advanced bone age syndrome
ORPHA:314051: Leukoencephalopathy-thalamus and brainstem anomalies-high lactate syndrome
ORPHA:314051: COXPD12
ORPHA:314051: Combined oxidative phosphorylation defect type 12
ORPHA:314051: LTBL
ORPHA:3143: Autoimmune polyendocrinopathy type 2
ORPHA:3143: APS type 2
ORPHA:3143: APS2
ORPHA:3143: Autoimmune polyendocrine syndrome type 2
ORPHA:3143: Autoimmune polyglandular syndrome type 2
ORPHA:3143: Autoimmune thyroid disease and/or type 1 diabetes-Addison disease syndrome
ORPHA:3143: Schmidt syndrome
ORPHA:314373: Chronic infantile diarrhea due to guanylate cyclase 2C overactivity
ORPHA:314376: Intestinal obstruction in the newborn due to guanylate cyclase 2C deficiency
ORPHA:314376: Meconium ileus due to guanylate cyclase 2C deficiency
ORPHA:314381: Hereditary sensory and autonomic neuropathy type 6
ORPHA:314381: Familial dysautonomia with contractures
ORPHA:314381: HSAN6
ORPHA:314381: Hereditary sensory and autonomic neuropathy type VI
ORPHA:314389: Xq12-q13.3 duplication syndrome
ORPHA:314389: Dup(X)(q12-q13.3)
ORPHA:314389: Kaya-Prontera syndrome
ORPHA:314394: Short stature-onychodysplasia-facial dysmorphism-hypotrichosis syndrome
ORPHA:314394: SOFT syndrome
ORPHA:314399: Autosomal dominant aplasia and myelodysplasia
ORPHA:314399: Autosomal dominant aplastic anemia and myelodysplasia
ORPHA:3144: Schneckenbecken dysplasia
ORPHA:3144: Chondrodysplasia with snail-like pelvis
ORPHA:3144: SLC35D1-CDG
ORPHA:314404: Autosomal dominant cerebellar ataxia-deafness-narcolepsy syndrome
ORPHA:314404: ADCA-DN syndrome
ORPHA:314404: Autosomal dominant cerebellar ataxia-hearing loss-narcolepsy syndrome
ORPHA:314419: Ameloblastoma
ORPHA:314422: Ameloblastic carcinoma
ORPHA:314425: Rare odontogenic tumor
ORPHA:314432: Spigelian hernia-cryptorchidism syndrome
ORPHA:314451: Meigs syndrome
ORPHA:314451: Demons-Meigs syndrome
ORPHA:314459: Pseudo-Meigs syndrome
ORPHA:314459: Pseudo-Demons-Meigs syndrome
ORPHA:314466: Atypical Meigs syndrome
ORPHA:314466: Atypical Demons-Meigs syndrome
ORPHA:314466: Incomplete Meigs syndrome
ORPHA:314473: Ovarian fibroma
ORPHA:314478: Ovarian fibrothecoma
ORPHA:314485: Young adult-onset distal hereditary motor neuropathy
ORPHA:314485: Autosomal recessive distal spinal muscular atrophy type 5
ORPHA:314485: Young adult-onset dHMN
ORPHA:314485: dSMA5
ORPHA:3145: Arginine vasopressin resistance-intracranial calcification-short stature-facial dysmorphism syndrome
ORPHA:3145: Nephrogenic diabetes insipidus-intracranial calcification-short stature-facial dysmorphism syndrome
ORPHA:314555: Facial dysmorphism-ocular anomalies-osteopenia-intellectual disability-dental anomalies syndrome
ORPHA:314555: Hamamy syndrome
ORPHA:314566: Primary progressive apraxia of speech
ORPHA:314566: PPAOS
ORPHA:314572: Autosomal recessive leukoencephalopathy-ischemic stroke-retinitis pigmentosa syndrome
ORPHA:314575: Intellectual disability-hypotonia-brachycephaly-pyloric stenosis-cryptorchidism syndrome
ORPHA:314585: 15q overgrowth syndrome
ORPHA:314588: Distal triplication 15q syndrome
ORPHA:314588: Distal tetrasomy 15q
ORPHA:314588: Tetrasomy 15(q25-qter)
ORPHA:314588: Tetrasomy 15q26
ORPHA:314588: Triplication 15q25-qter
ORPHA:314588: Triplication 15q26
ORPHA:314597: Chudley-McCullough syndrome
ORPHA:314603: Autosomal recessive spastic ataxia with leukoencephalopathy
ORPHA:314603: ARSAL
ORPHA:314603: Autosomal recessive spastic ataxia type 3
ORPHA:314603: SPAX3
ORPHA:314613: Growing teratoma syndrome
ORPHA:314621: Duplication of the pituitary gland
ORPHA:314621: DPG-plus syndrome
ORPHA:314621: Duplication of the pituitary gland-plus syndrome
ORPHA:314621: Hypophyseal duplication
ORPHA:314629: CLN11 disease
ORPHA:314629: Neuronal ceroid lipofuscinosis type 11
ORPHA:314632: CLN12 disease
ORPHA:314632: ATP13A2-related juvenile neuronal ceroid lipofuscinosis
ORPHA:314632: Juvenile parkinsonism-neuronal ceroid lipofuscinosis
ORPHA:314632: Neuronal ceroid lipofuscinosis type 12
ORPHA:314637: Mitochondrial hypertrophic cardiomyopathy with lactic acidosis due to MTO1 deficiency
ORPHA:314637: COXPD10
ORPHA:314637: Combined oxidative phosphorylation defect type 10
ORPHA:314647: Non-progressive cerebellar ataxia with intellectual disability
ORPHA:314652: Variant ABeta2M amyloidosis
ORPHA:314652: Autosomal dominant beta2-microglobulinic amyloidosis
ORPHA:314655: Severe neonatal hypotonia-seizures-encephalopathy syndrome due to 5q31.3 microdeletion
ORPHA:314655: 5q31.3 microdeletion syndrome
ORPHA:314655: Del(5)(q31.3)
ORPHA:314655: Monosomy 5q31.3
ORPHA:314662: Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
ORPHA:314667: TMEM165-CDG
ORPHA:314667: CDG syndrome type IIk
ORPHA:314667: CDG-IIk
ORPHA:314667: CDG2K
ORPHA:314667: Carbohydrate deficient glycoprotein syndrome type IIk
ORPHA:314667: Congenital disorder of glycosylation type 2k
ORPHA:314667: Congenital disorder of glycosylation type IIk
ORPHA:314679: Cerebrofacioarticular syndrome
ORPHA:314679: Van Maldergem syndrome
ORPHA:314684: Primary bone lymphoma
ORPHA:314689: Combined immunodeficiency due to STK4 deficiency
ORPHA:314689: CID due to STK4 deficiency
ORPHA:314697: Acquired porencephaly
ORPHA:314701: Primary systemic amyloidosis
ORPHA:314701: Systemic AL amyloidosis
ORPHA:314709: Primary localized amyloidosis
ORPHA:314709: Localized AL amyloidosis
ORPHA:314718: Lethal arteriopathy syndrome due to fibulin-4 deficiency
ORPHA:314721: Atypical dentin dysplasia due to SMOC2 deficiency
ORPHA:314721: Dentin dysplasia type 1 with microdontia and shape anomalies
ORPHA:314749: Rare disease with adrenal Cushing syndrome as a major feature
ORPHA:314753: Functioning pituitary adenoma
ORPHA:314753: Endocrine active pituitary adenoma
ORPHA:314753: Secreting pituitary adenoma
ORPHA:314759: Mixed functioning pituitary adenoma
ORPHA:314759: Mixed secreting pituitary adenoma
ORPHA:314769: Somatomammotropinoma
ORPHA:314769: GH and PRL cosecreting pituitary adenoma
ORPHA:314769: Growth hormone and prolactin cosecreting pituitary adenoma
ORPHA:314769: Somatolactotropinoma
ORPHA:314769: Somatoprolactinoma
ORPHA:314777: Familial isolated pituitary adenoma
ORPHA:314777: FIPA
ORPHA:314786: Silent pituitary adenoma
ORPHA:314790: Null pituitary adenoma
ORPHA:314795: SHOX-related short stature
ORPHA:3148: Malignant peripheral nerve sheath tumor
ORPHA:3148: MPNST
ORPHA:3148: Malignant neurilemmoma
ORPHA:3148: Malignant neurofibroma
ORPHA:3148: Malignant schwannoma
ORPHA:3148: Neurofibrosarcoma
ORPHA:3148: Neurogenic sarcoma
ORPHA:314802: Short stature due to partial GHR deficiency
ORPHA:314802: Short stature due to partial growth hormone receptor deficiency
ORPHA:314811: Short stature due to GHSR deficiency
ORPHA:314811: Ghrelin receptor deficiency
ORPHA:314811: Short stature due to growth hormone secretagogue receptor deficiency
ORPHA:314822: Primary renal tubular acidosis
ORPHA:314889: Autosomal dominant proximal renal tubular acidosis
ORPHA:314889: AD pRTA
ORPHA:314911: Severe Canavan disease
ORPHA:314911: Infantile Canavan disease
ORPHA:314911: Neonatal Canavan disease
ORPHA:314918: Mild Canavan disease
ORPHA:314918: Juvenile Canavan disease
ORPHA:314950: Primary hypereosinophilic syndrome
ORPHA:314950: Clonal hypereosinophilic syndrome
ORPHA:314950: HES-M
ORPHA:314950: HES-N
ORPHA:314950: Neoplastic hypereosinophilic syndrome
ORPHA:314950: Primary HES
ORPHA:314962: Secondary hypereosinophilic syndrome
ORPHA:314962: HES-R
ORPHA:314962: Reactive hypereosinophilic syndrome
ORPHA:314962: Secondary HES
ORPHA:314970: Lymphocytic hypereosinophilic syndrome
ORPHA:314970: HES-L
ORPHA:314970: Lymphocytic variant HES
ORPHA:314970: Lymphoid HES
ORPHA:314978: X-linked non progressive cerebellar ataxia
ORPHA:314993: Cataract-congenital heart disease-neural tube defect syndrome
ORPHA:315: Erythrokeratoderma ''en cocardes''
ORPHA:315: Degos genodermatosis "en cocardes"
ORPHA:3151: Multiple sclerosis-ichthyosis-factor VIII deficiency syndrome
ORPHA:3152: Sclerosteosis
ORPHA:3152: Cortical hyperostosis-syndactyly syndrome
ORPHA:315306: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, salt wasting form
ORPHA:315306: Classic 21-OHD CAH, salt wasting form
ORPHA:315311: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency, simple virilizing form
ORPHA:315311: Classic 21-OHD CAH, simple virilizing form
ORPHA:315350: Autoimmune disease with skin involvement
ORPHA:3156: Senior-Loken syndrome
ORPHA:3156: Nephronophthisis with retinal dystrophy
ORPHA:3156: Renal dysplasia-retinal aplasia syndrome
ORPHA:3156: SLSN
ORPHA:3157: Septo-optic dysplasia spectrum
ORPHA:3157: De Morsier syndrome
ORPHA:3157: SOD
ORPHA:3157: Septo-optic dysplasia
ORPHA:316: Progressive symmetric erythrokeratodermia
ORPHA:316: Darier-Gottron disease
ORPHA:316: Erythrokeratodermia progressiva symmetrica
ORPHA:316: Progressive symmetric erythrokeratodermia, Gottron type
ORPHA:3161: Congenital pulmonary sequestration
ORPHA:3161: Congenital bronchopulmonary sequestration
ORPHA:3162: Sézary syndrome
ORPHA:3162: Sézary lymphoma
ORPHA:316226: Spastic ataxia
ORPHA:316226: SPAX
ORPHA:316235: Autosomal dominant spastic ataxia
ORPHA:316235: AD-SPAX
ORPHA:316240: Autosomal recessive spastic ataxia
ORPHA:316240: AR-SPAX
ORPHA:316244: Partial deletion of the short arm of chromosome 12 syndrome
ORPHA:316244: Partial deletion of chromosome 12p
ORPHA:316244: Partial monosomy of chromosome 12p
ORPHA:316244: Partial monosomy of the short arm of chromosome 12
ORPHA:3163: SHORT syndrome
ORPHA:3163: Lipodystrophy-Rieger anomaly-diabetes syndrome
ORPHA:3163: Rieger anomaly-partial lipodystrophy syndrome
ORPHA:3164: Omphalocele syndrome, Shprintzen-Goldberg type
ORPHA:3165: Eosinophilic fasciitis
ORPHA:3165: Diffuse fasciitis with eosinophilia
ORPHA:3165: Shulman syndrome
ORPHA:3166: Sialuria
ORPHA:3166: Sialuria, French type
ORPHA:3167: Siegler-Brewer-Carey syndrome
ORPHA:3168: Sillence syndrome
ORPHA:3168: Brachydactyly-symphalangism syndrome
ORPHA:3169: Sirenomelia
ORPHA:317: Erythrokeratodermia variabilis
ORPHA:317: EKV
ORPHA:317: Erythrokeratodermia variabilis, Mendes da Costa type
ORPHA:31709: Infantile convulsions and choreoathetosis
ORPHA:31709: ICCA syndrome
ORPHA:31709: Paroxysmal kinesigenic dyskinesia and infantile convulsions
ORPHA:3172: Eyebrow duplication-syndactyly syndrome
ORPHA:3173: Infantile spasms-broad thumbs syndrome
ORPHA:3173: Tsao-Ellingson syndrome
ORPHA:31740: Hypersensitivity pneumonitis
ORPHA:31740: Extrinsic allergic alveolitis
ORPHA:317416: T-B+ severe combined immunodeficiency
ORPHA:317416: T-B+ SCID
ORPHA:317419: T-B- severe combined immunodeficiency
ORPHA:317419: T-B- SCID
ORPHA:317425: Severe combined immunodeficiency due to DNA-PKcs deficiency
ORPHA:317425: SCID due to DNA-PKcs deficiency
ORPHA:317428: Combined immunodeficiency due to ORAI1 deficiency
ORPHA:317428: CID due to ORAI1 deficiency
ORPHA:317430: Combined immunodeficiency due to STIM1 deficiency
ORPHA:317430: CID due to STIM1 deficiency
ORPHA:317473: Pancytopenia due to IKZF1 mutations
ORPHA:317473: CID due to IKAROS deficiency
ORPHA:317473: Combined immunodeficiency due to IKAROS deficiency
ORPHA:317476: XMEN
ORPHA:317476: CID due to MAGT1 deficiency
ORPHA:317476: Combined immunodeficiency due to MAGT1 deficiency
ORPHA:317476: X-linked immunodeficiency with magnesium defect, Epstein-Barr virus infection and neoplasia
ORPHA:3175: X-linked spasticity-intellectual disability-epilepsy syndrome
ORPHA:3176: Spina bifida-hypospadias syndrome
ORPHA:3177: Spinocerebellar degeneration-corneal dystrophy syndrome
ORPHA:3177: Der Kaloustian-Jarudi-Khoury syndrome
ORPHA:318: Acute erythroid leukemia
ORPHA:318: AML M6
ORPHA:318: Acute myeloid leukemia M6
ORPHA:318: Erythroleukemia
ORPHA:3180: Spondylocamptodactyly syndrome
ORPHA:3181: Sprengel deformity
ORPHA:3181: High scapula
ORPHA:31824: Colchicine poisoning
ORPHA:31825: Methanol poisoning
ORPHA:31826: Ethylene glycol poisoning
ORPHA:31827: Paraquat poisoning
ORPHA:31828: Digitalis poisoning
ORPHA:31837: Pulmonary venoocclusive disease
ORPHA:3184: Steatocystoma multiplex-natal teeth syndrome
ORPHA:3186: Holoprosencephaly-radial heart renal anomalies syndrome
ORPHA:3186: Steinfeld syndrome
ORPHA:3188: Congenital pulmonary veins atresia or stenosis
ORPHA:3189: Congenital pulmonary valvar stenosis
ORPHA:3189: Congenital stenosis of pulmonary valve
ORPHA:319: Skeletal Ewing sarcoma
ORPHA:319: Osseous Ewing sarcoma
ORPHA:3190: Subpulmonary stenosis
ORPHA:3191: Subaortic stenosis-short stature syndrome
ORPHA:3191: Onat syndrome
ORPHA:319160: Congenital myopathy with internal nuclei and atypical cores
ORPHA:319160: CNM4
ORPHA:319160: Centronuclear myopathy type 4
ORPHA:319171: Distal 17p13.1 microdeletion syndrome
ORPHA:319171: Distal del(17)(p13.1)
ORPHA:319182: Wiedemann-Steiner syndrome
ORPHA:319182: Hypertrichosis-short stature-facial dysmorphism-developmental delay syndrome
ORPHA:319189: Familial cortical myoclonus
ORPHA:319192: Diencephalic-mesencephalic junction dysplasia
ORPHA:319195: Chondroectodermal dysplasia with night blindness
ORPHA:319199: Autosomal recessive spastic paraplegia type 53
ORPHA:319199: SPG53
ORPHA:3192: Supravalvular pulmonary stenosis
ORPHA:319205: Bilateral massive adrenal hemorrhage
ORPHA:319205: BMAH
ORPHA:319205: Bilateral adrenal hemorrhage
ORPHA:319213: Lujo hemorrhagic fever
ORPHA:319213: Zambian hemorrhagic fever
ORPHA:319218: Ebola hemorrhagic fever
ORPHA:319218: EHF
ORPHA:319218: Ebola fever
ORPHA:319218: Ebola virus disease
ORPHA:319223: Argentine hemorrhagic fever
ORPHA:319223: Argentinian hemorrhagic fever
ORPHA:319223: Junin hemorrhagic fever
ORPHA:319229: Bolivian hemorrhagic fever
ORPHA:319229: Machupo hemorrhagic fever
ORPHA:319234: Venezuelan hemorrhagic fever
ORPHA:319234: Guanarito hemorrhagic fever
ORPHA:319239: Brazilian hemorrhagic fever
ORPHA:319239: Sabia hemorrhagic fever
ORPHA:319244: Chapare hemorrhagic fever
ORPHA:319247: Hantavirus pulmonary syndrome
ORPHA:319251: Rift valley fever
ORPHA:319254: Kyasanur forest disease
ORPHA:319254: Kyasanur hemorrhagic fever
ORPHA:319254: Monkey disease
ORPHA:319254: Monkey fever
ORPHA:319266: Omsk hemorrhagic fever
ORPHA:319276: Clear cell renal carcinoma
ORPHA:319276: CCRCC
ORPHA:319276: Clear cell renal cell adenocarcinoma
ORPHA:319276: Clear cell renal cell carcinoma
ORPHA:319287: Multilocular cystic renal neoplasm of low malignant potential
ORPHA:319287: MCRCC
ORPHA:319287: Multilocular clear cell adenocarcinoma
ORPHA:319287: Multilocular clear cell carcinoma
ORPHA:319287: Multilocular clear cell renal cell adenocarcinoma
ORPHA:319287: Multilocular clear cell renal cell carcinoma
ORPHA:319287: Multilocular cystic renal cell adenocarcinoma
ORPHA:319287: Multilocular cystic renal cell carcinoma
ORPHA:319298: Papillary renal cell carcinoma
ORPHA:319298: Papillary renal cell adenocarcinoma
ORPHA:3193: Supravalvular aortic stenosis
ORPHA:3193: SVAS
ORPHA:319303: Chromophobe renal cell carcinoma
ORPHA:319303: Chromophobe renal cell adenocarcinoma
ORPHA:319308: MiT family translocation renal cell carcinoma
ORPHA:319308: Carcinoma associated with MITF/TFE translocation
ORPHA:319308: Translocation renal cell carcinoma
ORPHA:319319: Renal medullary carcinoma
ORPHA:319322: Mucinous tubular and spindle cell renal carcinoma
ORPHA:319325: Tubulocystic renal cell carcinoma
ORPHA:319328: Inherited renal cancer-predisposing syndrome
ORPHA:319332: Autosomal recessive myogenic arthrogryposis multiplex congenita
ORPHA:319332: Autosomal recessive myogenic AMC
ORPHA:319332: SYNE1-related AMC
ORPHA:319332: SYNE1-related arthrogryposis multiplex congenita
ORPHA:319340: Carney complex-trismus-pseudocamptodactyly syndrome
ORPHA:319340: Carney complex variant
ORPHA:3194: Corneodermatoosseous syndrome
ORPHA:3194: CDO syndrome
ORPHA:3194: Stern-Lubinsky-Durrie syndrome
ORPHA:319462: Inherited cancer-predisposing syndrome due to biallelic BRCA2 mutations
ORPHA:319465: Inherited acute myeloid leukemia
ORPHA:319465: Familial AML
ORPHA:319465: Inherited AML
ORPHA:319465: Pure familial AML
ORPHA:319465: Pure familial acute myeloid leukemia
ORPHA:319480: Acute myeloid leukemia with CEBPA somatic mutations
ORPHA:319480: AML with CEBPA somatic mutations
ORPHA:319487: Familial papillary or follicular thyroid carcinoma
ORPHA:319487: FNMTC
ORPHA:319487: Familial pure nonmedullary thyroid carcinoma
ORPHA:319494: Familial nonmedullary thyroid carcinoma