TaoMedAI/RareMedData huggingface dataset:
ORPHA:401866: Spasticity-ataxia-gait anomalies syndrome
ORPHA:401869: Multiple mitochondrial dysfunctions syndrome type 1
ORPHA:401869: MMDS1
ORPHA:401869: NFU1 deficiency
ORPHA:401874: Multiple mitochondrial dysfunctions syndrome type 2
ORPHA:401874: BOLA3 deficiency
ORPHA:401874: MMDS2
ORPHA:401901: Huntington disease-like syndrome due to C9ORF72 expansions
ORPHA:401901: C9ORF72-related Huntington disease phenocopy
ORPHA:401901: C9ORF72-related Huntington disease-like syndrome
ORPHA:401901: Huntington disease phenocopy due to C9ORF72 expansions
ORPHA:401911: AXIN2-related attenuated familial adenomatous polyposis
ORPHA:401911: AXIN2-related AFAP
ORPHA:401911: AXIN2-related attenuated FAP
ORPHA:401911: AXIN2-related attenuated familial polyposis coli
ORPHA:401920: Fibrolamellar hepatocellular carcinoma
ORPHA:401920: FHCC
ORPHA:401920: Fibrolamellar hepatocarcinoma
ORPHA:401923: 9q31.1q31.3 microdeletion syndrome
ORPHA:401923: Del(9)(q31.1q31.3)
ORPHA:401923: Monosomy 9q31.1q31.3
ORPHA:401935: 14q24.1q24.3 microdeletion syndrome
ORPHA:401935: Del(14)(q24.1q24.3)
ORPHA:401935: Monosomy 14q24.1q24.3
ORPHA:401942: Familial median cleft of the upper and lower lips
ORPHA:401945: Moyamoya disease with early-onset achalasia
ORPHA:401948: Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency
ORPHA:401948: CA-VA deficiency
ORPHA:401953: Episodic ataxia with slurred speech
ORPHA:401953: Episodic ataxia type 8
ORPHA:401959: Partial corpus callosum agenesis-cerebellar vermis hypoplasia with posterior fossa cysts syndrome
ORPHA:401964: Autosomal dominant Charcot-Marie-Tooth disease type 2 with giant axons
ORPHA:401964: Autosomal dominant hereditary motor and sensory neuropathy type 2 with giant axons
ORPHA:401964: CMT2 with giant axons
ORPHA:401964: HMSN2 with giant axons
ORPHA:401973: MEND syndrome
ORPHA:401973: Male EBP disorder with neurological defects
ORPHA:401979: Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
ORPHA:401986: 1p31p32 microdeletion syndrome
ORPHA:401986: Del(1)(p31p32)
ORPHA:401986: Monosomy 1p31p32
ORPHA:401993: Cold-induced sweating syndrome-hyperthermia spectrum
ORPHA:401996: Karyomegalic interstitial nephritis
ORPHA:401996: KIN
ORPHA:401996: Systemic karyomegaly
ORPHA:402003: Autosomal dominant focal non-epidermolytic palmoplantar keratoderma with plantar blistering
ORPHA:402007: Lichen myxedematosus
ORPHA:402014: Acute myeloid leukemia with t(6;9)(p23;q34)
ORPHA:402014: AML with t(6;9)(p23;q34)
ORPHA:402017: Acute myeloid leukemia with t(9;11)(p22;q23)
ORPHA:402017: AML with t(9;11)(p22;q23)
ORPHA:402020: Acute myeloid leukemia with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
ORPHA:402020: AML with inv(3)(q21q26.2) or t(3;3)(q21;q26.2)
ORPHA:402023: Megakaryoblastic acute myeloid leukemia with t(1;22)(p13;q13)
ORPHA:402023: Megakaryoblastic AML with t(1;22)(p13;q13)
ORPHA:402026: Acute myeloid leukemia with NPM1 somatic mutations
ORPHA:402026: AML with NPM1 somatic mutations
ORPHA:402029: Primary eosinophilic gastrointestinal disease
ORPHA:402029: EGID
ORPHA:402035: Eosinophilic colitis
ORPHA:402041: Autosomal recessive distal renal tubular acidosis
ORPHA:402041: AR dRTA
ORPHA:402041: Autosomal recessive distal RTA
ORPHA:402075: Familial bicuspid aortic valve
ORPHA:402075: Familial BAV
ORPHA:402082: Progressive myoclonic epilepsy type 5
ORPHA:402082: EPM5
ORPHA:402082: PME type 5
ORPHA:402082: Progressive myoclonus epilepsy type 5
ORPHA:402364: Infantile cerebral and cerebellar atrophy with postnatal progressive microcephaly
ORPHA:402823: Hepatitis delta
ORPHA:402823: HDV
ORPHA:402823: Hepatitis D virus
ORPHA:403: Familial hyperaldosteronism type I
ORPHA:403: Dexamethasone-sensitive hypertension
ORPHA:403: FH-I
ORPHA:403: FH1
ORPHA:403: Familial hyperaldosteronism type 1
ORPHA:403: GRA
ORPHA:403: Glucocorticoid-remediable aldosteronism
ORPHA:403: Glucocorticoid-sensitive hypertension
ORPHA:40366: Acitretin/etretinate embryopathy
ORPHA:40366: Fetal acitretin/etretinate syndrome
ORPHA:40366: Retinoid embryopathy
ORPHA:404: Familial hyperaldosteronism type II
ORPHA:404: FH-II
ORPHA:404: FH2
ORPHA:404: Familial hyperaldosteronism type 2
ORPHA:404437: Diffuse cerebral and cerebellar atrophy-intractable seizures-progressive microcephaly syndrome
ORPHA:404440: Intellectual disability-facial dysmorphism syndrome due to SETD5 haploinsufficiency
ORPHA:404443: Tatton-Brown-Rahman syndrome
ORPHA:404443: DNMT3A-related overgrowth syndrome
ORPHA:404443: Tatton-Brown-Rahman overgrowth syndrome
ORPHA:404448: ADNP syndrome
ORPHA:404448: ADNP-related syndromic intellectual disability-autism spectrum disorder
ORPHA:404448: HVDAS
ORPHA:404448: Helsmoortel-Van Der Aa Syndrome
ORPHA:404451: FBLN1-related developmental delay-central nervous system anomaly-syndactyly syndrome
ORPHA:404454: Alacrimia-choreoathetosis-liver dysfunction syndrome
ORPHA:404454: NGLY1 deficiency
ORPHA:404454: NGLY1-CDDG
ORPHA:404463: Multisystemic smooth muscle dysfunction syndrome
ORPHA:404466: Female infertility due to zona pellucida defect
ORPHA:404469: Rare female infertility due to oocyte maturation defect
ORPHA:404473: Severe intellectual disability-progressive spastic diplegia syndrome
ORPHA:404473: CTNNB1 syndrome
ORPHA:404476: Global developmental delay-lung cysts-overgrowth-Wilms tumor syndrome
ORPHA:404476: GLOW syndrome
ORPHA:404481: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome
ORPHA:404493: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to TUD deficiency
ORPHA:404493: SCAR23
ORPHA:404493: Spinocerebellar ataxia autosomal recessive type 23
ORPHA:404499: Autosomal recessive cerebellar ataxia-epilepsy-intellectual disability syndrome due to RUBCN deficiency
ORPHA:404499: Autosomal recessive spinocerebellar ataxia type 15
ORPHA:404499: SCAR15
ORPHA:404499: Salih ataxia
ORPHA:404507: Chondromyxoid fibroma
ORPHA:404511: Clear cell papillary renal cell carcinoma
ORPHA:404514: Acquired cystic disease-associated renal cell carcinoma
ORPHA:404521: Spinal muscular atrophy with respiratory distress type 2
ORPHA:404521: Diaphragmatic spinal muscular atrophy type 2
ORPHA:404521: SMARD2
ORPHA:404521: Severe infantile axonal neuropathy with respiratory failure type 2
ORPHA:404521: X-linked spinal muscular atrophy with respiratory distress
ORPHA:404538: X-linked distal hereditary motor neuropathy
ORPHA:404538: X-linked dHMN
ORPHA:404538: X-linked distal spinal muscular atrophy
ORPHA:404546: DITRA
ORPHA:404546: Deficiency of IL-36R antagonist
ORPHA:404546: Deficiency of IL-36Ra
ORPHA:404553: Adenosine deaminase 2 deficiency
ORPHA:404553: DADA2
ORPHA:404553: Deficiency of adenosine deaminase 2
ORPHA:404553: Vasculitis due to ADA2 deficiency
ORPHA:404553: Vasculitis due to DADA2
ORPHA:404560: Familial atypical multiple mole melanoma syndrome
ORPHA:404560: B-K mole syndrome
ORPHA:404560: FAMM-PC syndrome
ORPHA:404560: FAMMM syndrome
ORPHA:404560: Familial atypical mole syndrome
ORPHA:404560: Familial atypical multiple mole melanoma-pancreatic carcinoma syndrome
ORPHA:404560: Familial dysplastic nevus syndrome
ORPHA:404560: Melanoma-pancreatic cancer syndrome
ORPHA:404568: Dysostosis of genetic origin
ORPHA:404571: Dysostosis of genetic origin with limb anomaly as a major feature
ORPHA:404574: Genetic syndrome with limb reduction defects
ORPHA:404577: Genetic syndrome with limb malformations as a major feature
ORPHA:404580: Polyarticular juvenile idiopathic arthritis
ORPHA:404580: Juvenile polyarthritis
ORPHA:404580: Juvenile polyarticular arthritis
ORPHA:404580: Polyarticular JIA
ORPHA:404584: Rare genetic bone development disorder
ORPHA:404584: Rare genetic skeletal development disorder
ORPHA:405: Familial hypocalciuric hypercalcemia
ORPHA:405: FBH
ORPHA:405: FBHH
ORPHA:405: FHH
ORPHA:405: Familial benign hypercalcemia
ORPHA:405: Familial benign hypocalciuric hypercalcemia
ORPHA:407: Glycine encephalopathy
ORPHA:407: NKA
ORPHA:407: Non-ketotic hyperglycinemia
ORPHA:408: Isolated glycerol kinase deficiency
ORPHA:408: Hyperglycerolemia
ORPHA:409: Hyperkeratosis lenticularis perstans
ORPHA:409: Flegel disease
ORPHA:40923: Eales disease
ORPHA:40923: Idiopathic retinal perivasculitis
ORPHA:40923: Idiopathic retinal vasculitis
ORPHA:41: Dyschromatosis symmetrica hereditaria
ORPHA:41: Acropigmentation of Dohi
ORPHA:411493: Pontocerebellar hypoplasia type 10
ORPHA:411493: CLP1-related pontocerebellar hypoplasia
ORPHA:411493: PCH10
ORPHA:411501: Williams-Campbell syndrome
ORPHA:411511: Angelman syndrome due to a point mutation
ORPHA:411515: Angelman syndrome due to imprinting defect in 15q11-q13
ORPHA:411527: Central retinal vein occlusion
ORPHA:411527: CRVO
ORPHA:411536: Mild phosphoribosylpyrophosphate synthetase superactivity
ORPHA:411536: Mild PRPP synthetase superactivity
ORPHA:411536: Mild PRPS1 superactivity
ORPHA:411543: Severe phosphoribosylpyrophosphate synthetase superactivity
ORPHA:411543: Severe PRPP synthetase superactivity
ORPHA:411543: Severe PRPS1 superactivity
ORPHA:411590: Wolfram-like syndrome
ORPHA:411593: Insulin autoimmune syndrome
ORPHA:411593: Hirata disease
ORPHA:411602: Hereditary late-onset Parkinson disease
ORPHA:411602: Autosomal dominant late-onset Parkinson disease
ORPHA:411602: LOPD
ORPHA:411629: Infantile nephropathic cystinosis
ORPHA:411634: Juvenile nephropathic cystinosis
ORPHA:411634: Intermediate cystinosis
ORPHA:411634: Juvenile cystinosis
ORPHA:411641: Ocular cystinosis
ORPHA:411641: Adult-onset cystinosis
ORPHA:411641: Non-nephropathic cystinosis
ORPHA:411696: Proton-pump inhibitor-responsive esophageal eosinophilia
ORPHA:411696: PPI-REE
ORPHA:411696: PPI-responsive esophageal eosinophilia
ORPHA:411696: PPIRee
ORPHA:411703: Pulmonary non-tuberculous mycobacterial infection
ORPHA:411703: Non-tuberculous mycobacterial lung disease
ORPHA:411709: Renal agenesis
ORPHA:411712: Maternal riboflavin deficiency
ORPHA:411777: Generalized eruptive keratoacanthoma
ORPHA:411777: GEKA
ORPHA:411777: Generalized eruptive keratoacanthomas of Grzybowski
ORPHA:411777: Grzybowski syndrome
ORPHA:411788: Familial isolated trichomegaly
ORPHA:411986: Early-onset epileptic encephalopathy-cortical blindness-intellectual disability-facial dysmorphism syndrome
ORPHA:411986: Epilepsy-cortical blindness-intellectual disability-facial dysmorphism syndrome
ORPHA:412: Dysbetalipoproteinemia
ORPHA:412: Broad-beta disease
ORPHA:412: Familial dyslipidemia type 3
ORPHA:412: HLP type 3
ORPHA:412: Hyperlipidemia type 3
ORPHA:412: Hyperlipoproteinemia type 3
ORPHA:412: Remnant hyperlipoproteinemia
ORPHA:412022: Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs syndrome
ORPHA:412022: FDLAB syndrome
ORPHA:412022: Facial dysmorphism-lens dislocation-anterior segment abnormalities-nontraumatic conjunctive cysts syndrome
ORPHA:412022: Traboulsi syndrome
ORPHA:412035: 13q12.3 microdeletion syndrome
ORPHA:412035: Del(13)(q12.3)
ORPHA:412035: Monosomy 13q12.3
ORPHA:412057: Autosomal recessive cerebellar ataxia due to STUB1 deficiency
ORPHA:412057: SCAR16
ORPHA:412057: Spinocerebellar ataxia autosomal recessive type 16
ORPHA:412066: PRKAR1B-related neurodegenerative dementia with intermediate filaments
ORPHA:412069: AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome
ORPHA:412069: Xia-Gibbs syndrome
ORPHA:412181: Epidermolysis bullosa simplex due to BP230 deficiency
ORPHA:412181: DST-related epidermolysis bullosa simplex
ORPHA:412181: EBS due to BP230 deficiency
ORPHA:412189: Epidermolysis bullosa simplex due to exophilin 5 deficiency
ORPHA:412189: EBS due to exophilin 5 deficiency
ORPHA:412206: Primary failure of tooth eruption
ORPHA:412206: PFE
ORPHA:412206: Primary retention of teeth
ORPHA:412217: Dystonia-aphonia syndrome
ORPHA:414: Gyrate atrophy of choroid and retina
ORPHA:414: HOGA
ORPHA:414: Hyperornithinemia
ORPHA:414: Hyperornithinemia-gyrate atrophy of choroid and retina syndrome
ORPHA:414: Ornithine aminotransferase deficiency
ORPHA:414726: Genetic facial cleft
ORPHA:414726: Genetic craniofacial cleft
ORPHA:415: Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome
ORPHA:415: HHH syndrome
ORPHA:415: ORNT1 deficiency
ORPHA:415: Ornithine carrier deficiency
ORPHA:415: Ornithine translocase deficiency
ORPHA:415: Triple H syndrome
ORPHA:415286: Bilirubin encephalopathy
ORPHA:415286: Kernicterus
ORPHA:416: Primary hyperoxaluria
ORPHA:417: Neonatal severe primary hyperparathyroidism
ORPHA:417: NSHPT
ORPHA:41751: Bietti crystalline dystrophy
ORPHA:41751: BCD
ORPHA:41751: Bietti crystalline corneoretinal dystrophy
ORPHA:41751: Bietti crystalline retinopathy
ORPHA:418: Congenital adrenal hyperplasia
ORPHA:418: CAH
ORPHA:418945: Carcinoma of esophagus, salivary gland type
ORPHA:418945: Esophageal carcinoma, salivary gland type
ORPHA:418951: Undifferentiated carcinoma of esophagus
ORPHA:418951: Undifferentiated esophageal carcinoma
ORPHA:418959: Squamous cell carcinoma of the stomach
ORPHA:418959: Gastric squamous cell carcinoma
ORPHA:419: Hyperprolinemia type 1
ORPHA:419: Proline oxidase deficiency
ORPHA:42: Medium chain acyl-CoA dehydrogenase deficiency
ORPHA:42: ACADM deficiency
ORPHA:42: Carnitine deficiency secondary to medium-chain acyl-CoA dehydrogenase deficiency
ORPHA:42: MCAD deficiency
ORPHA:42: MCADD
ORPHA:42: Medium chain acyl-coenzyme A dehydrogenase deficiency
ORPHA:420179: Malan overgrowth syndrome
ORPHA:420179: Sotos syndrome 2
ORPHA:420259: Secondary pulmonary alveolar proteinosis
ORPHA:420259: Secondary PAP
ORPHA:420402: Semicircular canal dehiscence syndrome
ORPHA:420402: SCD syndrome
ORPHA:420429: Glycogen storage disease due to acid maltase deficiency, late-onset
ORPHA:420429: Alpha-1,4-glucosidase acid deficiency, late-onset
ORPHA:420429: GSD due to acid maltase deficiency, late-onset
ORPHA:420429: GSD type 2, late-onset
ORPHA:420429: GSD type II, late-onset
ORPHA:420429: Glycogen storage disease type 2, late-onset
ORPHA:420429: Glycogen storage disease type II, late-onset
ORPHA:420429: Glycogenosis type 2, late-onset
ORPHA:420429: Glycogenosis type II, late-onset
ORPHA:420429: Pompe disease, late-onset
ORPHA:420485: Cranio-cervical dystonia with laryngeal and upper-limb involvement
ORPHA:420485: DYT24
ORPHA:420485: Dystonia 24
ORPHA:420492: Adult-onset cervical dystonia, DYT23 type
ORPHA:420492: DYT23
ORPHA:420492: Dystonia 23
ORPHA:420556: Visual snow syndrome
ORPHA:420561: Temple-Baraitser syndrome
ORPHA:420561: Severe intellectual disability-aplasia/hypoplasia of thumb and hallux syndrome
ORPHA:420561: TMBTS
ORPHA:420566: Bleeding disorder due to CalDAG-GEFI deficiency
ORPHA:420566: Bleeding disorder due to calcium- and DAG-regulated guanine exchange factor-1 deficiency
ORPHA:420573: Severe combined immunodeficiency due to CTPS1 deficiency
ORPHA:420573: SCID due to CTPS1 deficiency
ORPHA:420584: Postaxial polydactyly-anterior pituitary anomalies-facial dysmorphism syndrome
ORPHA:420584: Culler-Jones syndrome
ORPHA:420611: Transient myeloproliferative syndrome
ORPHA:420611: TMD
ORPHA:420611: Transient abnormal myelopoiesis
ORPHA:420611: Transient myeloproliferative disease
ORPHA:42062: Iminoglycinuria
ORPHA:420686: Woolly hair-palmoplantar keratoderma syndrome
ORPHA:420686: KWWH type IV
ORPHA:420686: Keratoderma with woolly hair type IV
ORPHA:420686: Woolly hair-palmoplantar hyperkeratosis syndrome
ORPHA:420699: Autosomal recessive severe congenital neutropenia due to CXCR2 deficiency
ORPHA:420702: Autosomal recessive severe congenital neutropenia due to CSF3R deficiency
ORPHA:420728: Combined oxidative phosphorylation defect type 20
ORPHA:420728: COXPD20
ORPHA:420733: Combined oxidative phosphorylation defect type 21
ORPHA:420733: COXPD21
ORPHA:420741: RIDDLE syndrome
ORPHA:420741: RNF168 deficiency
ORPHA:420741: Radiosensitivity-immunodeficiency-dysmorphic features-learning difficulties syndrome
ORPHA:420755: Rare genetic odontal or periodontal disorder
ORPHA:420789: Autoimmune encephalopathy with parasomnia and obstructive sleep apnea
ORPHA:420789: Anti-IgLON5 disease
ORPHA:420789: Anti-IgLON5 syndrome
ORPHA:420794: Cono-spondylar dysplasia
ORPHA:420794: Short stature-kyphosis-hypoplasia of basal ilia-cone epiphyses-facial dysmorphism syndrome
ORPHA:422: Idiopathic/heritable pulmonary arterial hypertension
ORPHA:422: Idiopathic and/or familial pulmonary arterial hypertension
ORPHA:422526: Hereditary clear cell renal cell carcinoma
ORPHA:422526: Hereditary clear cell renal cell adenocarcinoma
ORPHA:423: Malignant hyperthermia of anesthesia
ORPHA:423: Hyperthermia of anesthesia
ORPHA:423275: Spinocerebellar ataxia type 40
ORPHA:423275: SCA40
ORPHA:423296: Spinocerebellar ataxia type 38
ORPHA:423296: SCA38
ORPHA:423306: Microcephaly-short stature-intellectual disability-facial dysmorphism syndrome
ORPHA:423384: Severe congenital neutropenia due to JAGN1 deficiency
ORPHA:423384: SCN due to JAGN1 deficiency
ORPHA:423384: Severe congenital neutropenia due to jagunal homolog 1 deficiency
ORPHA:423454: Nail and teeth abnormalities-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
ORPHA:423454: Ectodermal dysplasia-short stature syndrome
ORPHA:423454: Short stature-nail dysplasia-marginal palmoplantar keratoderma-oral hyperpigmentation syndrome
ORPHA:423461: Mucolipidosis type III alpha/beta
ORPHA:423461: ML 3 alpha/beta
ORPHA:423461: ML III alpha/beta
ORPHA:423461: Mucolipidosis type 3 alpha/beta
ORPHA:423470: Mucolipidosis type III gamma
ORPHA:423470: ML 3 gamma
ORPHA:423470: ML III gamma
ORPHA:423470: Mucolipidosis type 3 gamma
ORPHA:423479: X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
ORPHA:423479: X-linked intellectual disability-limb spasticity-retinal dystrophy-diabetes insipidus syndrome
ORPHA:423655: ARX-related encephalopathy-brain malformation spectrum
ORPHA:423662: Rare autonomic nervous system disorder
ORPHA:423693: Double outlet right ventricle with subaortic or doubly committed ventricular septal defect
ORPHA:423693: DORV with subaortic or doubly committed VSD
ORPHA:423712: Double outlet right ventricle with atrioventricular septal defect, pulmonary stenosis, heterotaxy
ORPHA:423712: DORV with atrioventricular septal defect, pulmonary stenosis, heterotaxy
ORPHA:423717: Cutaneous larva migrans
ORPHA:423771: Rare carcinoma of stomach
ORPHA:423771: Rare gastric carcinoma
ORPHA:423776: Hereditary gastric cancer
ORPHA:423776: Hereditary cancer of stomach
ORPHA:423786: Undifferentiated carcinoma of stomach
ORPHA:423786: Undifferentiated gastric carcinoma
ORPHA:423793: Rare tumor of small intestine
ORPHA:423793: Rare tumor of small bowel
ORPHA:423798: Mesenchymal tumor of small intestine
ORPHA:423798: Mesenchymal tumor of small bowel
ORPHA:423894: Microcephaly-complex motor and sensory axonal neuropathy syndrome
ORPHA:423957: Rare carcinoma of small intestine
ORPHA:423957: Rare carcinoma of small bowel
ORPHA:423968: Squamous cell carcinoma of the small intestine
ORPHA:423968: Squamous cell carcinoma of the small bowel
ORPHA:423975: Neuroendocrine tumor of the small intestine
ORPHA:423975: NET of the small intestine
ORPHA:423975: Neuroendocrine neoplasm of the small intestine
ORPHA:423975: Neuroendocrine tumor of small bowel
ORPHA:423982: Epithelial tumor of the appendix
ORPHA:423982: Appendiceal epithelial tumor
ORPHA:423991: Rare epithelial tumor of colon
ORPHA:423994: Squamous cell carcinoma of the colon
ORPHA:423998: Rare epithelial tumor of rectum
ORPHA:423998: Rare rectal epithelial tumor
ORPHA:424: Familial hyperthyroidism due to mutations in TSH receptor
ORPHA:424: Familial non-immune hyperthyroidism
ORPHA:424: Resistance to thyroid stimulating hormone
ORPHA:424002: Squamous cell carcinoma of the rectum
ORPHA:424002: Rectal squamous cell carcinoma
ORPHA:424010: Epithelial tumor of anal canal
ORPHA:424013: Carcinoma of the anal canal
ORPHA:424016: Adenocarcinoma of the anal canal
ORPHA:424019: Squamous cell carcinoma of the anal canal
ORPHA:424027: Progressive myoclonic epilepsy type 8
ORPHA:424027: EPM8
ORPHA:424027: PME type 8
ORPHA:424027: Progressive myoclonic epilepsy due to CERS1 deficiency
ORPHA:424027: Progressive myoclonus epilepsy type 8
ORPHA:424033: Rare epithelial tumor of pancreas
ORPHA:424033: Rare pancreatic epithelial tumor
ORPHA:424039: Squamous cell carcinoma of pancreas
ORPHA:424039: Pancreatic squamous cell carcinoma
ORPHA:424046: Acinar cell carcinoma of pancreas
ORPHA:424046: Pancreatic acinar cell carcinoma
ORPHA:424053: Mucinous cystadenocarcinoma of the pancreas
ORPHA:424053: Pancreatic mucinous cystadenocarcinoma
ORPHA:424058: Intraductal papillary mucinous carcinoma of pancreas
ORPHA:424058: IPMN
ORPHA:424058: Pancreatic intraductal papillary mucinous carcinoma
ORPHA:424065: Solid pseudopapillary carcinoma of pancreas
ORPHA:424065: Pancreatic solid pseudopapillary carcinoma
ORPHA:424065: Solid pseudopapillary neoplasm of the pancreas
ORPHA:424073: Serous cystadenocarcinoma of pancreas
ORPHA:424073: Pancreatic serous cystadenocarcinoma
ORPHA:424080: Undifferentiated carcinoma with osteoclast-like giant cells of pancreas
ORPHA:424080: OGCT of pancreas
ORPHA:424080: Osteoclastic giant cell tumor of pancreas
ORPHA:424080: Pancreatic osteoclastic giant cell tumor
ORPHA:424080: Pancreatic undifferentiated carcinoma with osteoclast-like giant cells
ORPHA:424080: Undifferentiated carcinoma of pancreas with osteoclast-like giant cells
ORPHA:424099: Colobomatous microphthalmia-rhizomelic dysplasia syndrome
ORPHA:424099: Microphthalmia-coloboma-rhizomelic skeletal dysplasia
ORPHA:424107: Congenital myopathy with myasthenic-like onset
ORPHA:424261: TOR1AIP1-related limb-girdle muscular dystrophy
ORPHA:424261: Autosomal recessive limb-girdle muscular dystrophy type 2Y
ORPHA:424261: Autosomal recessive muscular dystrophy due to LAP1B deficiency
ORPHA:424261: Autosomal recessive muscular dystrophy due to Torsin-1A-interacting protein 1 deficiency
ORPHA:424261: LGMD type 2Y
ORPHA:424261: LGMD2Y
ORPHA:424261: Muscular dystrophy with progressive weakness, distal contractures and rigid spine
ORPHA:424261: TOR1AIP1-related LGMD
ORPHA:424925: Qualitative or quantitative defects of Torsin-1A-interacting protein 1
ORPHA:424933: Rare malignant epithelial tumor of liver and intrahepatic biliary tract
ORPHA:424933: Rare malignant epithelial tumor of liver and IBT
ORPHA:424936: Carcinoma of liver and intrahepatic biliary tract
ORPHA:424936: Carcinoma of liver and IBT
ORPHA:424943: Adenocarcinoma of the liver and intrahepatic biliary tract
ORPHA:424943: Adenocarcinoma of the liver and IBT
ORPHA:424970: Undifferentiated carcinoma of liver and intrahepatic biliary tract
ORPHA:424970: Undifferentiated carcinoma of liver and IBT
ORPHA:424975: Squamous cell carcinoma of liver and intrahepatic biliary tract
ORPHA:424975: Squamous cell carcinoma of liver and IBT
ORPHA:424982: Biliary cystadenocarcinoma
ORPHA:424982: Intrahepatic bile duct cystadenocarcinoma
ORPHA:424991: Adenocarcinoma of the gallbladder and extrahepatic biliary tract
ORPHA:424991: Adenocarcinoma of the gallbladder and EBT
ORPHA:424996: Squamous cell carcinoma of gallbladder and extrahepatic biliary tract
ORPHA:424996: Squamous cell carcinoma of gallblader and EBT
ORPHA:425: Apolipoprotein A-I deficiency
ORPHA:425: ApoA-I deficiency
ORPHA:425: Familial apoA-I deficiency
ORPHA:425: Familial hypoalphalipoproteinemia
ORPHA:425003: Inherited digestive cancer-predisposing syndrome
ORPHA:425120: STING-associated vasculopathy with onset in infancy
ORPHA:425120: SAVI
ORPHA:425368: Rare epithelial tumor of small intestine
ORPHA:425368: Rare epithelial tumor of small bowel
ORPHA:42642: PFAPA syndrome
ORPHA:42642: Marshall syndrome with periodic fever
ORPHA:42642: Periodic fever-aphtous stomatitis-pharyngitis-adenopathy syndrome
ORPHA:42665: Tietz syndrome
ORPHA:42665: Hypopigmentation-deafness syndrome
ORPHA:42665: Hypopigmentation-hearing loss syndrome
ORPHA:427: Familial hypoaldosteronism
ORPHA:42738: Severe congenital neutropenia
ORPHA:42775: PHACE syndrome
ORPHA:42775: PHACES syndrome
ORPHA:42775: Pascual-Castroviejo syndrome type 2
ORPHA:428: Autosomal dominant hypocalcemia
ORPHA:428: AD hypocalcemia
ORPHA:429: Hypochondroplasia
ORPHA:43: X-linked adrenoleukodystrophy
ORPHA:43: ALD
ORPHA:43: X-ALD
ORPHA:43: X-linked ALD
ORPHA:431140: X-linked colobomatous microphthalmia-microcephaly-intellectual disability-short stature syndrome