TaoMedAI/RareMedData huggingface dataset:
ORPHA:567564: Nephrotic syndrome without extrarenal manifestations
ORPHA:567983: Parenteral nutrition-associated cholestasis
ORPHA:567983: PNAC
ORPHA:568: Microphthalmia, Lenz type
ORPHA:568: Lenz microphthalmia
ORPHA:568041: Primary lymphedema without systemic or visceral involvement
ORPHA:568044: Primary lymphedema with systemic or visceral involvement
ORPHA:568047: Disorder with multisystemic involvement and primary lymphedema
ORPHA:568051: GJC2-related late-onset primary lymphedema
ORPHA:568056: Warts-immunodeficiency-lymphedema-anogenital dysplasia syndrome
ORPHA:568056: Disseminated warts-impaired cell-mediated immunity-primary lymphedema-anogenital dysplasia syndrome
ORPHA:568056: WILD syndrome
ORPHA:568062: PIEZO1-related generalized lymphatic dysplasia with non-immune hydrops fetalis
ORPHA:568062: Generalized lymphatic dysplasia of Fotiou
ORPHA:568062: PIEZO1-related LRHF/GLD
ORPHA:568062: PIEZO1-related generalized lymphatic dysplasia with systemic involvement
ORPHA:568062: PIEZO1-related lymphatic-related hydrops fetalis
ORPHA:568065: EPHB4-related lymphatic-related hydrops fetalis
ORPHA:568065: EPHB4-related LRHF/GLD
ORPHA:568065: EPHB4-related generalized lymphatic dysplasia with atrial septal defect
ORPHA:568065: EPHB4-related generalized lymphatic dysplasia with non-immune hydrops fetalis
ORPHA:569: Familial or sporadic hemiplegic migraine
ORPHA:569164: Angiomatoid fibrous histiocytoma
ORPHA:569164: AFH
ORPHA:569248: Microcystic stromal tumor
ORPHA:569248: MCST
ORPHA:569274: Multiple mitochondrial dysfunctions syndrome type 5
ORPHA:569274: ISCA1 deficiency
ORPHA:569274: MMDS5
ORPHA:569290: Multiple mitochondrial dysfunctions syndrome type 6
ORPHA:569290: PMPCB deficiency
ORPHA:56970: Human prion disease
ORPHA:56970: TSE
ORPHA:56970: Transmissible spongiform encephalopathy
ORPHA:569816: CELSR1-related late-onset primary lymphedema
ORPHA:569821: Congenital primary lymphedema of Gordon
ORPHA:569821: VEGFC-related congenital primary lymphedema
ORPHA:57: Glycogen storage disease due to aldolase A deficiency
ORPHA:57: GSD due to aldolase A deficiency
ORPHA:57: GSD type 12
ORPHA:57: GSD type XII
ORPHA:57: Glycogen storage disease type 12
ORPHA:57: Glycogen storage disease type XII
ORPHA:57: Glycogenosis due to aldolase A deficiency
ORPHA:57: Glycogenosis type 12
ORPHA:57: Glycogenosis type XII
ORPHA:570: Moebius syndrome
ORPHA:570: Möbius syndrome
ORPHA:570371: Bartter syndrome type 5
ORPHA:570371: Bartter syndrome type V
ORPHA:570371: Transient antenatal Bartter syndrome
ORPHA:570422: Galactose mutarotase deficiency
ORPHA:570422: GALM deficiency
ORPHA:570422: Galactosemia type 4
ORPHA:570431: Idiopathic multicentric Castleman disease
ORPHA:570431: HHV-8-negative multicentric Castleman disease
ORPHA:570431: Human herpesvirus-8-negative multicentric Castleman disease
ORPHA:570438: HHV-8-associated multicentric Castleman disease
ORPHA:570438: Human herpesvirus-8-associated multicentric Castleman disease
ORPHA:570470: Ricin poisoning
ORPHA:570491: QRSL1-related combined oxidative phosphorylation defect
ORPHA:570491: QRSL1-related COXPD
ORPHA:570762: Infective endocarditis
ORPHA:570762: Bacterial endocarditis
ORPHA:570762: Infectious endocarditis
ORPHA:57145: SUNCT syndrome
ORPHA:57145: Short-lasting unilateral neuralgiform headache attacks with conjunctival injection and tearing
ORPHA:57146: Rare hepatic disease
ORPHA:57196: Medial condensing osteitis of the clavicle
ORPHA:57196: Osteitis condensans of the clavicle
ORPHA:572: Immunodeficiency by defective expression of MHC class II
ORPHA:572: Bare lymphocyte syndrome type 2
ORPHA:572: MHC class II deficiency
ORPHA:572013: Posterior-predominant lissencephaly-broad flat pons and medulla-midline crossing defects syndrome
ORPHA:572333: Blepharophimosis-ptosis-epicanthus inversus syndrome plus
ORPHA:572333: 3q23 microdeletion syndrome
ORPHA:572333: BPES plus
ORPHA:572354: Blepharophimosis-ptosis-epicanthus inversus syndrome type 1
ORPHA:572354: BPES type 1
ORPHA:572354: Blepharophimosis-ptosis-epicanthus inversus syndrome with premature ovarian failure
ORPHA:572361: Blepharophimosis-ptosis-epicanthus inversus syndrome type 2
ORPHA:572361: BPES type 2
ORPHA:572361: Blepharophimosis-ptosis-epicanthus inversus syndrome without premature ovarian failure
ORPHA:572385: Brachydactyly type B1
ORPHA:572428: Infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
ORPHA:572428: OAS1 deficiency
ORPHA:572428: OAS1-related infantile-onset pulmonary alveolar proteinosis-hypogammaglobulinemia
ORPHA:572543: RFVT2-related riboflavin transporter deficiency
ORPHA:572543: RTD2
ORPHA:572543: Riboflavin transporter deficiency 2
ORPHA:572550: RFVT3-related riboflavin transporter deficiency
ORPHA:572550: RTD3
ORPHA:572550: Riboflavin transporter deficiency 3
ORPHA:572761: DONSON-related microcephaly-short stature-limb abnormalities spectrum
ORPHA:572768: Microcephaly-micromelia syndrome
ORPHA:572768: MIMIS
ORPHA:572773: Microcephaly-short stature-limb abnormalities syndrome
ORPHA:572773: MISSLA
ORPHA:572798: WARS2-related combined oxidative phosphorylation defect
ORPHA:572798: Mitochondrial tryptophanyl-tRNA synthetase deficiency
ORPHA:573: Monilethrix
ORPHA:573: Moniliform hair syndrome
ORPHA:573163: Pheochromocytoma-paraganglioma
ORPHA:573253: Split cord malformation type II
ORPHA:573253: Diplomyelia
ORPHA:573253: SCM type 2
ORPHA:573253: SCM type II
ORPHA:573253: Split cord malformation type 2
ORPHA:573278: Split cord malformation
ORPHA:573278: SCM
ORPHA:574: 21q deletion syndrome
ORPHA:574: 21q- syndrome
ORPHA:574: Partial 21q monosomy
ORPHA:574671: Prediction of toxicity or dose selection of belinostat
ORPHA:574918: Predisposition to severe viral infection due to IRF7 deficiency
ORPHA:574957: Mendelian susceptibility to mycobacterial diseases due to partial JAK1 deficiency
ORPHA:574957: MSMD due to partial JAK1 deficiency
ORPHA:574957: Mendelian susceptibility to mycobacterial diseases due to partial Janus kinase 1 deficiency
ORPHA:575: Muckle-Wells syndrome
ORPHA:575: Neutrophilic urticaria
ORPHA:575553: Cathepsin A-related arteriopathy-strokes-leukoencephalopathy
ORPHA:575553: CARASAL
ORPHA:576: Mucolipidosis type II
ORPHA:576: I-cell disease
ORPHA:576: Mucolipidosis type II alpha/beta
ORPHA:576: N-acetylglucosamine 1-phosphotransferase deficiency
ORPHA:576074: Middle East respiratory syndrome
ORPHA:576074: MERS
ORPHA:576227: Complete atrioventricular septal defect without ventricular hypoplasia
ORPHA:576227: Balanced complete atrioventricular canal
ORPHA:576227: CAVC without ventricular hypoplasia
ORPHA:576227: Complete AVSD without ventricular hypoplasia
ORPHA:576227: Complete atrioventricular canal defect without ventricular hypoplasia
ORPHA:576227: Complete atrioventricular septal defect with balanced ventricles
ORPHA:576232: Partial atrioventricular septal defect with ventricular hypoplasia
ORPHA:576232: PAVC with ventricular hypoplasia
ORPHA:576232: Partial AVSD with ventricular hypoplasia
ORPHA:576232: Partial atrioventricular canal defect with ventricular hypoplasia
ORPHA:576232: Partial atrioventricular septal defect with ventricular imbalance
ORPHA:576232: Unbalanced partial atrioventricular canal
ORPHA:576235: Partial atrioventricular septal defect without ventricular hypoplasia
ORPHA:576235: Balanced partial atrioventricular canal
ORPHA:576235: PAVC without ventricular hypoplasia
ORPHA:576235: Partial AVSD without ventricular hypoplasia
ORPHA:576235: Partial atrioventricular canal defect without ventricular hypoplasia
ORPHA:576235: Partial atrioventricular septal defect with balanced ventricles
ORPHA:576242: Intermediate atrioventricular septal defect
ORPHA:576242: Intermediate AVSD
ORPHA:576242: Intermediate atrioventricular canal defect
ORPHA:576242: Transitional atrioventricular canal defect
ORPHA:576278: SATB2-associated syndrome
ORPHA:576278: SAS
ORPHA:576283: SATB2-associated syndrome due to a pathogenic variant
ORPHA:576283: SATB2-associated syndrome due to a point mutation
ORPHA:576349: NLRC4-related familial cold autoinflammatory syndrome
ORPHA:576349: FCAS4
ORPHA:576349: Familial cold autoinflammatory syndrome 4
ORPHA:576349: NLRC4-related familial cold urticaria
ORPHA:576356: Sporadic human prion disease
ORPHA:576356: Idiopathic human prion disease
ORPHA:576360: Acquired human prion disease
ORPHA:576360: Infectious human prion disease
ORPHA:576370: Variant Creutzfeldt-Jakob disease
ORPHA:576370: Variant MCJ
ORPHA:576370: vCJD
ORPHA:576379: Iatrogenic Creutzfeldt-Jakob disease
ORPHA:576379: Iatrogenic MCJ
ORPHA:576379: iCJD
ORPHA:576742: Genetic hemolytic uremic syndrome
ORPHA:576742: Genetic HUS
ORPHA:577: Mucolipidosis type III
ORPHA:577: Pseudo-Hurler polydystrophy
ORPHA:57782: Mazabraud syndrome
ORPHA:57782: Myxoma with fibrous dysplasia
ORPHA:578: Mucolipidosis type IV
ORPHA:579: Mucopolysaccharidosis type 1
ORPHA:579: Alpha-L-iduronidase deficiency
ORPHA:579: MPS1
ORPHA:579: MPSI
ORPHA:579: Mucopolysaccharidosis type I
ORPHA:58: Alexander disease
ORPHA:58: AxD
ORPHA:580: Mucopolysaccharidosis type 2
ORPHA:580: Hunter syndrome
ORPHA:580: Iduronate 2-sulfatase deficiency
ORPHA:580: MPS2
ORPHA:580: MPSII
ORPHA:580: Mucopolysaccharidosis type II
ORPHA:58017: Classic hairy cell leukemia
ORPHA:58017: HCL-C
ORPHA:58017: Leukemic reticuloendotheliosis
ORPHA:58040: Osteoblastoma
ORPHA:580572: Intraductal tubulopapillary neoplasm of pancreas
ORPHA:580572: ITPN
ORPHA:580933: Lethal brain and heart developmental defects
ORPHA:580940: QRICH1-related intellectual disability-chondrodysplasia syndrome
ORPHA:580951: Punctate inner choroidopathy
ORPHA:581: Mucopolysaccharidosis type 3
ORPHA:581: MPS3
ORPHA:581: MPSIII
ORPHA:581: Mucopolysaccharidosis type III
ORPHA:581: Sanfilippo disease
ORPHA:581: Sanfilippo syndrome
ORPHA:581271: Cramp-fasciculation syndrome
ORPHA:582: Mucopolysaccharidosis type 4
ORPHA:582: MPS4
ORPHA:582: MPSIV
ORPHA:582: Morquio disease
ORPHA:582: Mucopolysaccharidosis type IV
ORPHA:583: Mucopolysaccharidosis type 6
ORPHA:583: ARSB deficiency
ORPHA:583: ASB deficiency
ORPHA:583: Arylsulfatase B deficiency
ORPHA:583: MPS6
ORPHA:583: MPSVI
ORPHA:583: Maroteaux-Lamy disease
ORPHA:583: Mucopolysaccharidosis type VI
ORPHA:583: N-acetylgalactosamine 4-sulfatase deficiency
ORPHA:583097: Congenital infiltrating lipomatosis of the face
ORPHA:583097: CIL-F
ORPHA:583097: Facial infused lipomatosis
ORPHA:583097: Fibroadipose infiltrating lipomatosis
ORPHA:583595: Serine biosynthesis pathway deficiency, infantile/juvenile form
ORPHA:583602: Neu-Laxova syndrome due to phosphoserine aminotransferase deficiency
ORPHA:583602: Phosphoserine aminotransferase deficiency, prenatal form
ORPHA:583607: Neu-Laxova syndrome due to 3-phosphoglycerate dehydrogenase deficiency
ORPHA:583607: 3-phosphoglycerate dehydrogenase deficiency, prenatal form
ORPHA:583612: Neu-Laxova syndrome due to 3-phosphoserine phosphatase deficiency
ORPHA:583612: 3-phosphoserine phosphatase deficiency, prenatal form
ORPHA:583856: Isolated splenic vein thrombosis
ORPHA:583861: Isolated mesenteric vein thrombosis
ORPHA:584: Mucopolysaccharidosis type 7
ORPHA:584: Beta-glucuronidase deficiency
ORPHA:584: MPS7
ORPHA:584: MPSVII
ORPHA:584: Mucopolysaccharidosis type VII
ORPHA:584: Sly disease
ORPHA:585: Multiple sulfatase deficiency
ORPHA:585: Austin disease
ORPHA:585: MSD
ORPHA:585: Mucosulfatidosis
ORPHA:585867: Acute myeloid leukemia with t(9;22)(q34.1;q11.2)
ORPHA:585867: AML with BCR-ABL1
ORPHA:585867: AML with t(9;22)(q34.1;q11.2)
ORPHA:585877: B-lymphoblastic leukemia/lymphoma with recurrent genetic abnormality
ORPHA:585909: B-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2)
ORPHA:585909: B-ALL with t(9;22)(q34.1;q11.2)
ORPHA:585909: BCR-ABL1-like B-ALL
ORPHA:585909: Philadelphia chromosome-like B-ALL
ORPHA:585918: B-lymphoblastic leukemia/lymphoma with t(v;11q23.3)
ORPHA:585918: B Lymphoblastic Leukemia/Lymphoma with t(v;11q23.3); KMT2A Rearranged
ORPHA:585918: B lymphoblastic leukemia lymphoma with t(v;11q23); MLL rearranged
ORPHA:585929: B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1)
ORPHA:585929: B lymphoblastic leukemia lymphoma with t(12;21)(p13;q22); TEL-AML1
ORPHA:585929: B-lymphoblastic leukemia/lymphoma with t(12;21)(p13.2;q22.1); ETV6-RUNX1
ORPHA:585936: B-lymphoblastic leukemia/lymphoma with hyperdiploidy
ORPHA:585942: B-lymphoblastic leukemia/lymphoma with hypodiploidy
ORPHA:585942: Hypodiploid ALL
ORPHA:585948: B-lymphoblastic leukemia/lymphoma with t(5;14)(q31.1;q32.3)
ORPHA:585948: B lymphoblastic leukemia lymphoma with t(5;14)(q31;q32); IL3-IGH
ORPHA:585956: B-lymphoblastic leukemia/lymphoma with t(1;19)(q23;p13.3)
ORPHA:585956: B lymphoblastic leukemia lymphoma with t(1;19)(q23;p13.3); TCF3-PBX1
ORPHA:586: Cystic fibrosis
ORPHA:586: CF
ORPHA:586: Mucoviscidosis
ORPHA:586130: Sporadic fatal insomnia
ORPHA:588: Muscle-eye-brain disease
ORPHA:588: MEB syndrome
ORPHA:588: Muscle-eye-brain syndrome
ORPHA:588: Santavuori congenital muscular dystrophy
ORPHA:589: Myasthenia gravis
ORPHA:589: Acquired myasthenia
ORPHA:589: Autoimmune myasthenia gravis
ORPHA:589435: Spondylometaphyseal dysplasia-corneal dystrophy syndrome
ORPHA:589435: SMD-corneal dystrophy syndrome
ORPHA:589442: Short stature-skeletal dysplasia-retinal degeneration-intellectual disability-sensorineural hearing loss syndrome
ORPHA:589442: Liberfarb syndrome
ORPHA:589515: PUM1-associated developmental disability-ataxia-seizure syndrome
ORPHA:589515: PADDAS syndrome
ORPHA:589522: Spinocerebellar ataxia type 46
ORPHA:589522: SCA46
ORPHA:589527: Spinocerebellar ataxia type 45
ORPHA:589527: SCA45
ORPHA:589534: Mixed phenotype acute leukemia with t(9;22)(q34.1;q11.2)
ORPHA:589534: MPAL with t(9;22)(q34.1;q11.2); BCR-ABL1
ORPHA:589542: Myeloid/lymphoid neoplasm associated with JAK2 rearrangement
ORPHA:589542: Myeloid/lymphoid neoplasms with PCM1-JAK2
ORPHA:589547: GRIN2B-related developmental delay, intellectual disability and autism spectrum disorder
ORPHA:589547: GRIN2B-Related Neurodevelopmental Disorder
ORPHA:589595: Mixed phenotype acute leukemia with t(v;11q23.3)
ORPHA:589595: MPAL with t(v;11q23.3); KMT2A rearranged
ORPHA:589595: MPAL with t(v;11q23.3); MLL rearranged
ORPHA:589608: Linear hypopigmentation and craniofacial asymmetry with acral, ocular and brain anomalies
ORPHA:589608: RHOA-related mosaic ectodermal dysplasia
ORPHA:589618: Dystonia 28
ORPHA:589618: DYT28
ORPHA:589618: KMT2B-related dystonia
ORPHA:589746: Inherited gynecological cancer-predisposing syndrome
ORPHA:589821: Congenital-onset Steinert myotonic dystrophy
ORPHA:589821: Congenital-onset Steinert disease
ORPHA:589821: Congenital-onset myotonic dystrophy type 1
ORPHA:589824: Childhood-onset Steinert myotonic dystrophy
ORPHA:589824: Childhood-onset Steinert disease
ORPHA:589824: Childhood-onset myotonic dystrophy type 1
ORPHA:589827: Juvenile-onset Steinert myotonic dystrophy
ORPHA:589827: Juvenile-onset Steinert disease
ORPHA:589827: Juvenile-onset myotonic dystrophy type 1
ORPHA:589830: Adult-onset Steinert myotonic dystrophy
ORPHA:589830: Adult-onset Steinert disease
ORPHA:589830: Adult-onset myotonic dystrophy type 1
ORPHA:589833: Late-onset Steinert myotonic dystrophy
ORPHA:589833: Late-onset Steinert disease
ORPHA:589833: Late-onset myotonic dystrophy type 1
ORPHA:589856: Choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
ORPHA:589856: KMT2D-related choanal atresia-athelia-hypothyroidism-delayed puberty-short stature syndrome
ORPHA:589905: PHIP-related behavioral problems-intellectual disability-obesity-dysmorphic features syndrome
ORPHA:589905: Chung-Jansen syndrome
ORPHA:589905: DIDOD
ORPHA:59: Allan-Herndon-Dudley syndrome
ORPHA:59: AHDS
ORPHA:59: MCT8 deficiency
ORPHA:59: Monocarboxylate transporter 8 deficiency
ORPHA:59: X-linked intellectual disability-hypotonia syndrome
ORPHA:590: Congenital myasthenic syndrome
ORPHA:590: CMS
ORPHA:590539: Isolated melanotic schwannoma
ORPHA:590539: Isolated melanocytic schwannoma
ORPHA:591: Furuncular myiasis
ORPHA:591: Furunculoid myiasis
ORPHA:591: Furunculous myiasis
ORPHA:59135: Laing distal myopathy
ORPHA:59135: Distal myopathy type 1
ORPHA:59135: MPD1
ORPHA:59181: Sorsby pseudoinflammatory fundus dystrophy
ORPHA:592: Macrophagic myofasciitis
ORPHA:592: MMF
ORPHA:592564: GNAO1-related developmental delay-seizures-movement disorder spectrum
ORPHA:592564: GNAO1-related neurodevelopmental disorder
ORPHA:592564: GNAO1-related spectrum
ORPHA:592570: TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome
ORPHA:592574: Menke-Hennekam syndrome
ORPHA:592850: Neuromyelitis optica spectrum disorder with anti-AQP4 antibodies
ORPHA:592850: NMOSD with anti-AQP4 antibodies
ORPHA:592850: Neuromyelitis optica spectrum disorder with anti-aquaporin 4 antibodies
ORPHA:592856: Neuromyelitis optica spectrum disorder with anti-MOG antibodies
ORPHA:592856: NMOSD with anti-MOG antibodies
ORPHA:592856: Neuromyelitis optica spectrum disorder with anti-myelin oligodendrocyte glycoprotein antibodies
ORPHA:592869: Neuromyelitis optica spectrum disorder without anti-MOG and without anti-AQP4 antibodies
ORPHA:592869: NMOSD without anti-MOG antibodies and without anti-AQP4 antibodies
ORPHA:592869: Neuromyelitis optica spectrum disorder without anti-Myelin oligodendrocyte glycoprotein and without anti-Aquaporin-4 antibodies
ORPHA:592873: Acute transverse myelitis with anti-MOG antibodies
ORPHA:592873: Acute transverse myelitis with anti-myelin oligodendrocyte glycoprotein antibodies
ORPHA:592894: Acute disseminated encephalomyelitis with anti-MOG antibodies
ORPHA:592894: ADEM with anti-MOG antibodies
ORPHA:592894: Acute disseminated encephalomyelitis with anti-myelin oligodendrocyte glycoprotein antibodies
ORPHA:592900: Acute disseminated encephalomyelitis without anti-MOG antibodies
ORPHA:592900: Acute disseminated encephalomyelitis without anti-myelin oligodendrocyte glycoprotein antibodies
ORPHA:59298: Schilder disease
ORPHA:59298: Myelinoclastic diffuse sclerosis
ORPHA:593: Myofibrillar myopathy
ORPHA:593: MFM
ORPHA:59303: Neonatal ichthyosis-sclerosing cholangitis syndrome
ORPHA:59303: IHSC
ORPHA:59303: Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome
ORPHA:59303: NISCH syndrome
ORPHA:59305: Gestational trophoblastic neoplasm
ORPHA:59305: GTN
ORPHA:59306: McLeod neuroacanthocytosis syndrome
ORPHA:59306: MLS
ORPHA:59306: X-linked McLeod syndrome
ORPHA:59315: Rhombencephalosynapsis
ORPHA:595: Centronuclear myopathy
ORPHA:595: CNM
ORPHA:595098: Timothy syndrome type 1
ORPHA:595098: LQT8 type 1
ORPHA:595098: TS1
ORPHA:595105: Timothy syndrome type 2
ORPHA:595105: LQT8 type 2
ORPHA:595105: TS2
ORPHA:595109: Atypical Timothy syndrome
ORPHA:595109: ATS
ORPHA:595109: Atypical LQT8
ORPHA:595133: Perivascular epithelioid cell neoplasm
ORPHA:595133: PEComa
ORPHA:595133: Perivascular epithelioid tumour
ORPHA:595216: Fibrous dysplasia/McCune-Albright syndrome
ORPHA:595216: FD/MAS spectrum
ORPHA:595216: FD/MAS syndrome
ORPHA:595216: Fibrous dysplasia/McCune-Albright spectrum
ORPHA:595337: Adrenal hypoplasia congenita
ORPHA:595337: AHC
ORPHA:595337: Congenital adrenal hypoplasia
ORPHA:595337: Primary adrenal hypoplasia
ORPHA:595346: Epidermolysis bullosa simplex without extracutaneous involvement
ORPHA:595346: EBS without extracutaneous involvement
ORPHA:595351: Epidermolysis bullosa simplex with extracutaneous involvement
ORPHA:595351: EBS with extracutaneous involvement
ORPHA:595356: Localized dystrophic epidermolysis bullosa
ORPHA:595356: Localized DEB
ORPHA:596: X-linked centronuclear myopathy
ORPHA:596: X-linked myotubular myopathy
ORPHA:596: XLCNM
ORPHA:596: XLMTM
ORPHA:596008: Antley-Bixler syndrome without genital anomaly or disorder of steroidogenesis
ORPHA:596426: Syndrome of reduced sensitivity to thyroid hormone
ORPHA:596448: IgG4-related systemic disease
ORPHA:596753: VEXAS syndrome
ORPHA:596759: Combined immunodeficiency due to RELA haploinsufficiency
ORPHA:596759: CID due to RELA haploinsufficiency
ORPHA:596759: Combined immunodeficiency due to RELA proto-oncogene, NF-kB subunit haploinsufficiency
ORPHA:596759: RAID
ORPHA:596759: RELA-associated inflammatory disease
ORPHA:596937: Portosinusoidal vascular disease
ORPHA:596937: PSVD
ORPHA:596941: Incomplete septal cirrhosis
ORPHA:596941: Incomplete septal fibrosis
ORPHA:597: Central core disease
ORPHA:597201: TRIM22-related inflammatory bowel disease
ORPHA:597201: TRIM22-related IBD
ORPHA:597623: IRF2BPL-related regressive neurodevelopmental disorder-dystonia-seizures syndrome
ORPHA:597733: Oculocutaneous albinism type 8
ORPHA:597733: OCA8
ORPHA:597738: Luscan-Lumish syndrome
ORPHA:597738: SETD2-related overgrowth syndrome
ORPHA:597743: SETD2-related microcephaly-severe intellectual disability-multiple congenital anomalies syndrome
ORPHA:597746: Blepharophimosis-intellectual disability syndrome/genitopatellar overlap syndrome
ORPHA:597749: KAT6B-related multiple congenital anomalies syndrome
ORPHA:597749: KAT6B-related disorder
ORPHA:597874: MTHFS-related developmental delay-microcephaly-short stature-epilepsy syndrome
ORPHA:597887: ALPI-related inflammatory bowel disease
ORPHA:597939: Euthyroid dysprealbuminemic hyperthyroxinemia
ORPHA:597939: Euthyroid dystransthyretinemic hyperthyroxinemia
ORPHA:598: Multiminicore myopathy
ORPHA:598: MmD
ORPHA:598: Multiminicore disease
ORPHA:598164: FOXG1 syndrome due to intragenic alteration
ORPHA:598216: Upper tract urothelial carcinoma
ORPHA:598216: Transitional cell carcinoma of the pelvis and ureter
ORPHA:598216: Transitional cell carcinoma of the upper urinary tract
ORPHA:598216: UTUC
ORPHA:598363: Multisystem inflammatory syndrome in children and adults
ORPHA:598363: MIS-C/A
ORPHA:598603: Facial dysmorphism-hypertrichosis-epilepsy-intellectual disability/developmental delay-gingival overgrowth syndrome
ORPHA:598603: FHEIG syndrome
ORPHA:599: Distal myopathy
ORPHA:599: Distal muscular dystrophy
ORPHA:599082: CHD3-related developmental delay-speech delay-intellectual disability-abnormalities of vision-facial dysmorphism syndrome
ORPHA:599082: Snijders Blok-Campeau syndrome
ORPHA:599373: STXBP1-related encephalopathy
ORPHA:599376: Hypomyelination of early myelinating structures
ORPHA:599376: HEMS
ORPHA:599418: Hereditary angioedema with normal C1Inh not related to F12 or PLG variant
ORPHA:599480: Acquired hemophilia A
ORPHA:599480: AHA
ORPHA:599480: Acquired F8 deficiency
ORPHA:599480: Acquired factor VIII deficiency
ORPHA:599485: Acquired hemophilia B
ORPHA:599485: AHB
ORPHA:599485: Acquired F9 deficiency
ORPHA:599485: Acquired factor IX deficiency
ORPHA:599490: Acquired factor V deficiency
ORPHA:599495: Acquired factor VII deficiency
ORPHA:599501: Acquired factor X deficiency
ORPHA:599501: aFX
ORPHA:599507: Acquired factor XI deficiency
ORPHA:599507: aFXI
ORPHA:599513: Acquired factor XIII deficiency
ORPHA:599513: aFXIII
ORPHA:599519: Factor V short isoforms-related bleeding disorder
ORPHA:599519: FV short isoforms-related bleeding disorder
ORPHA:599579: Factor V Amsterdam bleeding disorder
ORPHA:599579: FV Amsterdam bleeding disorder
ORPHA:6: 3-methylcrotonyl-CoA carboxylase deficiency
ORPHA:6: 3-methylcrotonylglycinuria
ORPHA:6: MCC deficiency
ORPHA:6: MCCD
ORPHA:60: Alpha-1-antitrypsin deficiency
ORPHA:60: Alpha-1-proteinase inhibitor deficiency
ORPHA:60: Alpha1-antitrypsin deficiency
ORPHA:600: Vocal cord and pharyngeal distal myopathy
ORPHA:600: Distal myopathy with vocal cord weakness
ORPHA:600: MATR3-related distal myopathy
ORPHA:600: VCPDM
ORPHA:60014: Argyria
ORPHA:60014: Silver staining
ORPHA:60015: Enlarged parietal foramina
ORPHA:60015: Catlin marks
ORPHA:60015: Fenestrae parietales symmetricae
ORPHA:60015: Foramina parietalia permagna
ORPHA:60015: Hereditary cranium bifidum
ORPHA:60015: Symmetric parietal foramina
ORPHA:600194: Factor V Atlanta bleeding disorder
ORPHA:600194: FV Atlanta bleeding disorder
ORPHA:60025: Pulmonary alveolar microlithiasis
ORPHA:60026: Pulmonary nodular lymphoid hyperplasia
ORPHA:60026: Pulmonary pseudolymphoma
ORPHA:60030: Loeys-Dietz syndrome
ORPHA:60030: Aortic aneurysm syndrome due to TGF-beta receptors anomalies
ORPHA:60032: Recurrent respiratory papillomatosis
ORPHA:60033: Idiopathic bronchiectasis
ORPHA:60039: Pudendal nerve entrapment syndrome
ORPHA:60039: Alcock syndrome
ORPHA:60039: Pudendal algia
ORPHA:60039: Pudendal neuralgia
ORPHA:60039: Pudendal neuralgia by pudendal nerve entrapment
ORPHA:60039: Pudendal neuropathic pain syndrome
ORPHA:60039: Pudendal neuropathy