TaoMedAI/RareMedData huggingface dataset:
ORPHA:636941: Vascular Ehlers-Danlos-polymicrogyria syndrome
ORPHA:636941: Vascular EDS with polymicrogyria
ORPHA:636945: Invasive candidiasis
ORPHA:636945: Disseminated candidiasis
ORPHA:636945: Systemic candidiasis
ORPHA:636950: Glaucomatocyclitic crisis disease
ORPHA:636950: Posner-Schlossman syndrome
ORPHA:636955: Endemic pemphigus foliaceus
ORPHA:636955: Fogo selvagem
ORPHA:636965: Autosomal dominant myosin storage myopathy
ORPHA:636965: MSMA
ORPHA:636970: Autosomal recessive myosin storage myopathy
ORPHA:636970: MSMB
ORPHA:637: Full NF2-related schwannomatosis
ORPHA:637: Full NF2
ORPHA:637: Full neurofibromatosis type 2
ORPHA:637: Nonmosaic NF2-related schwannomatosis
ORPHA:637: Nonmosaic neurofibromatosis type 2
ORPHA:637013: SMARCA2-related blepharophimosis-intellectual disability syndrome
ORPHA:637051: Borna virus encephalitis
ORPHA:637051: Bornavirus encephalitis
ORPHA:637061: Isolated optic nerve hypoplasia
ORPHA:637064: Isolated optic nerve aplasia
ORPHA:638: Neurofibromatosis-Noonan syndrome
ORPHA:638: NFNS
ORPHA:638: Neurofibromatosis type 1-Noonan syndrome
ORPHA:63862: Schisis association
ORPHA:639: Polyneuropathy associated with IgM monoclonal gammopathy with anti-MAG
ORPHA:639: Anti-MAG neuropathy
ORPHA:639: Neuropathy associated with monoclonal IgM antibodies to myelin-associated glycoprotein
ORPHA:63999: IgG4-related mediastinitis
ORPHA:63999: Fibrosing mediastinitis
ORPHA:63999: Mediastinal fibrosis
ORPHA:63999: Sclerosing mediastinitis
ORPHA:64: Alström syndrome
ORPHA:640: Hereditary neuropathy with liability to pressure palsies
ORPHA:640: Current pressure-sensitive neuropathy
ORPHA:640: HNPP
ORPHA:640: Heterozygous microdeletion 17p11.2p12
ORPHA:640: Potato-grubbing palsy
ORPHA:640: Tomaculous neuropathy
ORPHA:640: Tulip-bulb digger's palsy
ORPHA:641: Multifocal motor neuropathy
ORPHA:641: MMN
ORPHA:641: MMNCB
ORPHA:641: Multifocal motor neuropathy with conduction block
ORPHA:641343: Imprinting disorders
ORPHA:641350: Immunotherapy induced hypophysitis
ORPHA:641353: Infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome
ORPHA:641353: HPDL-related Leigh-like encephalopathy
ORPHA:641353: HPDL-related infantile neurodegeneration-progressive spasticity-intellectual disability-white matter lesions syndrome
ORPHA:641361: Neurodevelopmental delay-hypotonia-cerebellar ataxia-cardiac conduction defects syndrome
ORPHA:641361: Cerebellar ataxia-brain abnormalities-cardiac conduction defects syndrome
ORPHA:641361: Neurodevelopmental delay-hypotonia-cerebellar atrophy-cardiac conduction defects syndrome
ORPHA:641368: Autosomal recessive hyper-IgE syndrome due to ZNF341 deficiency
ORPHA:641368: AR-HIES due to ZNF341 deficiency
ORPHA:641368: Autosomal recessive HIES due to ZNF341 deficiency
ORPHA:641368: Autosomal recessive hyperimmunoglobulin E syndrome due to zinc finger protein 341 deficiency
ORPHA:641372: B-lymphoblastic leukemia/lymphoma with t(7;9)(q11.2;p13.2)
ORPHA:641375: B-lymphoblastic leukemia/lymphoma with t(17;19)
ORPHA:641380: PAPASH syndrome
ORPHA:641380: Pyogenic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome
ORPHA:641385: PASS syndrome
ORPHA:641385: Pyoderma gangrenosum-acne-hidradenitis suppurativa-ankylosing spondylitis syndrome
ORPHA:641390: PsAPASH syndrome
ORPHA:641390: Psoriatic arthritis-pyoderma gangrenosum-acne-hidradenitis suppurativa syndrome
ORPHA:641396: Central nervous system tuberculosis
ORPHA:641396: CNS tuberculosis
ORPHA:641496: Childhood-onset schizophrenia
ORPHA:641496: COS
ORPHA:641496: VEOS
ORPHA:641496: Very early-onset schizophrenia
ORPHA:641613: Endogenous Cushing syndrome
ORPHA:641613: Endogenous CS
ORPHA:641829: Neonatal compartment syndrome
ORPHA:641829: CVIC
ORPHA:641829: Congenital Volkmann ischemic contracture syndrome
ORPHA:641829: NCS
ORPHA:641829: Neonatal Volkmann ischemic contracture syndrome
ORPHA:641829: Syndrome de Volkmann congénital
ORPHA:642: Hereditary sensory and autonomic neuropathy type 4
ORPHA:642: CIPA
ORPHA:642: Congenital insensitivity to pain with anhidrosis
ORPHA:642: HSAN4
ORPHA:642: Hereditary sensory and autonomic neuropathy type IV
ORPHA:642071: Primary pulmonary vein stenosis
ORPHA:642071: Congenital pulmonary vein stenosis
ORPHA:642071: PPVS
ORPHA:642085: EXOC6B-related spondyloepimetaphyseal dysplasia with joint laxity
ORPHA:642085: EXOC6B-SEMD-JL
ORPHA:642085: SEMD-JL3
ORPHA:642085: SEMDJL3
ORPHA:642085: Spondyloepimetaphyseal dysplasia with joint laxity type 3
ORPHA:642099: Spondyloepimetaphyseal dysplasia with joint laxity, Beighton type
ORPHA:642099: SEMD-JL1
ORPHA:642099: SEMDJL1
ORPHA:642099: Spondyloepimetaphyseal dysplasia with joint laxity type 1
ORPHA:642671: Familial hyperaldosteronism type IV
ORPHA:642671: FH4
ORPHA:642675: CHD8 overgrowth syndrome
ORPHA:642675: CHD8-related intellectual disability-autism-macrocephaly-tall stature syndrome
ORPHA:642675: Chromodomain helicase DNA binding protein 8 overgrowth syndrome
ORPHA:642691: Fragile X-associated primary ovarian insufficiency
ORPHA:642691: FXPOI
ORPHA:642691: Fragile X-associated POF
ORPHA:642691: Fragile X-associated POI
ORPHA:642691: Fragile X-associated premature ovarian failure
ORPHA:642691: POF associated with fragile X premutation
ORPHA:642691: POI associated with fragile X premutation
ORPHA:642691: Premature ovarian failure associated with fragile X premutation
ORPHA:642691: Primary ovarian insufficiency associated with fragile X premutation
ORPHA:642747: PUM1-related cerebellar ataxia
ORPHA:642747: Adult-onset SCA47
ORPHA:642747: Adult-onset spinocerebellar ataxia type 47
ORPHA:642763: Autosomal dominant intellectual disability-craniofacial dysmorphism-macrocephaly-hypotonia syndrome due to H1-4 mutation
ORPHA:642763: H1-4-related neurodevelopmental disorder
ORPHA:642763: Rahman syndrome
ORPHA:642788: Cushing syndrome due to cortisol-producing adrenocortical adenoma
ORPHA:642788: CS due to cortisol-producing adrenocortical adenoma
ORPHA:64280: Childhood absence epilepsy
ORPHA:64280: Pyknolepsy
ORPHA:642945: Perrault syndrome type 1
ORPHA:642945: XX gonadal dysgenesis-deafness syndrome-without neurological manifestations
ORPHA:642954: Autosomal recessive ataxia due to PEX16 deficiency
ORPHA:642954: Mild peroxisomal disorder due to PEX16 deficiency
ORPHA:642965: Autosomal recessive ataxia due to PEX2 deficiency
ORPHA:642965: Mild peroxisomal disorder due to PEX2 deficiency
ORPHA:642976: Perrault syndrome type 2
ORPHA:642976: XX gonadal dysgenesis-deafness syndrome-progressive neurological manifestations
ORPHA:643: Giant axonal neuropathy
ORPHA:643: GAN
ORPHA:643503: Marfanoid habitus-facial dysmorphism-skeletal abnormality-heart defect syndrome
ORPHA:643538: Hao-Fountain syndrome due to USP7 mutation
ORPHA:643538: HAFOUS due to USP7 mutation
ORPHA:643549: Hao-Fountain syndrome
ORPHA:643549: HAFOUS
ORPHA:644: NARP syndrome
ORPHA:644: Neurogenic muscle weakness-ataxia-retinitis pigmentosa syndrome
ORPHA:644: Neuropathy-ataxia-retinitis pigmentosa syndrome
ORPHA:645188: Spinal dermal sinus
ORPHA:645188: Dermal sinus tract
ORPHA:645193: Dysraphism with stalk
ORPHA:645196: Limited dorsal myeloschisis
ORPHA:645196: LDM
ORPHA:645202: Closed spinal dysraphism
ORPHA:645202: Closed spina bifida
ORPHA:645202: Occult spina bifida
ORPHA:645202: Spina bifida occulta
ORPHA:645270: Open spinal dysraphism with a posterior meningocele
ORPHA:645273: Dysraphic spinal cord lipoma
ORPHA:645276: Spinal cord lipoma
ORPHA:645279: Fibrolipomatous filum anomaly
ORPHA:645282: Anomaly of the filum
ORPHA:645285: Chaotic conus spinal cord lipoma
ORPHA:645288: Terminal extramedullary conus spinal cord lipoma
ORPHA:645291: Transitional extramedullary conus spinal cord lipoma
ORPHA:645294: Posterior extramedullary conus spinal cord lipoma
ORPHA:645297: Extramedullary conus spinal cord lipoma
ORPHA:645300: Lipomatous non-saccular limited dorsal myeloschisis
ORPHA:645300: Lipomatous flat LDM
ORPHA:645300: Lipomatous flat limited dorsal myeloschisis
ORPHA:645300: Lipomatous non-saccular LDM
ORPHA:645310: Fibroneural non-saccular limited dorsal myeloschisis
ORPHA:645310: Fibroneural flat LDM
ORPHA:645310: Fibroneural flat limited dorsal myeloschisis
ORPHA:645310: Fibroneural non-saccular LDM
ORPHA:645319: Saccular spinal dysraphism with a stalk to the dome
ORPHA:645322: Isolated transitional filum lipoma
ORPHA:645325: Isolated filum lipoma
ORPHA:645325: Lipoma of the filum terminale
ORPHA:645334: Retained medullary cord
ORPHA:645337: Terminal myelocystocele
ORPHA:645340: Non-terminal myelocystocele
ORPHA:645343: Non-saccular limited dorsal myeloschisis
ORPHA:645343: Flat LDM
ORPHA:645343: Non-saccular LDM
ORPHA:645350: Segmental arterial mediolysis
ORPHA:645354: Saccular limited dorsal myeloschisis
ORPHA:645354: Saccular LDM
ORPHA:645359: Intramedullary non-dysraphic spinal cord lipoma
ORPHA:645362: Dorsal spinal cord lipoma
ORPHA:645362: Conus sparing spinal cord lipoma
ORPHA:645367: Conus spinal cord lipoma
ORPHA:645378: Myelic limited dorsal malformation
ORPHA:645378: MyeLDM
ORPHA:645383: True myelomeningocele
ORPHA:645383: True MMC
ORPHA:645388: Hemi-myelomeningocele
ORPHA:645388: Open split-cord malformation
ORPHA:645393: Hemi-myeloschisis
ORPHA:645393: Split cord malformation associated with myeloschisis
ORPHA:645398: Myeloschisis
ORPHA:645401: True myeloschisis
ORPHA:64542: Acrofacial dysostosis, Kennedy-Teebi type
ORPHA:64542: Kennedy-Teebi syndrome
ORPHA:645613: Classical dermatomyositis
ORPHA:645617: Amyopathic dermatomyositis
ORPHA:645617: Dermatomyositis sine myositis
ORPHA:645626: Adermatopathic dermatomyositis
ORPHA:645626: Dermatomyositis sine dermatitis
ORPHA:645749: Congenital esophageal stenosis
ORPHA:645749: CES
ORPHA:645749: Congenital oesophageal stenosis
ORPHA:645793: Spontaneous intestinal perforation
ORPHA:645793: FIP
ORPHA:645793: Focal intestinal perforation
ORPHA:645793: Isolated perforation
ORPHA:645793: Neonatal focal intestinal perforation
ORPHA:645793: SIP
ORPHA:645807: Primary tuberculous lymphadenitis
ORPHA:645807: Primary tuberculous lymphadenopathy
ORPHA:645814: Primary pulmonary tuberculosis
ORPHA:645814: Tuberculosis of respiratory system
ORPHA:645822: Primary bone and joint tuberculosis
ORPHA:645822: Primary musculoskeletal tuberculosis
ORPHA:645849: Primary cutaneous tuberculosis
ORPHA:645849: Primary skin tuberculosis
ORPHA:645854: Multifocal tuberculosis
ORPHA:645859: Primary tuberculosis of the digestive system
ORPHA:645874: Primary genito-urinary tuberculosis
ORPHA:645874: Urogenital tuberculosis
ORPHA:646: Niemann-Pick disease type C
ORPHA:646098: Collagen VI-related congenital muscular dystrophy
ORPHA:646098: COL6-RD
ORPHA:646113: Intermediate collagen VI-related muscular dystrophy
ORPHA:646113: Intermediate COL6-RD
ORPHA:646136: Dysplastic cortical hyperostosis, Al-Gazali type
ORPHA:646139: Dysplastic cortical hyperostosis
ORPHA:646278: CDK13-related developmental delay-intellectual disability-facial dysmorphism-congenital heart defects syndrome
ORPHA:646278: CDK13-related disorder
ORPHA:64686: Tolosa-Hunt syndrome
ORPHA:64686: Painful ophthalmoplegia
ORPHA:64692: Bartonella bacilliformis infection
ORPHA:64692: Bartonellosis due to infection with Bartonella bacilliformis
ORPHA:64692: Carrion disease
ORPHA:64694: Trench fever
ORPHA:64694: Bartonellosis due to Bartonella quintana infection
ORPHA:647: Nijmegen breakage syndrome
ORPHA:647: AT V1
ORPHA:647: Ataxia-telangiectasia, variant 1
ORPHA:647: Berlin breakage syndrome
ORPHA:647: Immunodeficiency-microcephaly-chromosomal instability syndrome
ORPHA:647: Microcephaly-immunodeficiency-lymphoid malignancy syndrome
ORPHA:647: NBS
ORPHA:647: Seemanova syndrome type 2
ORPHA:64720: Leiomyosarcoma
ORPHA:64722: Granulomatous mastitis
ORPHA:64722: Idiopathic granulomatous mastitis
ORPHA:64734: Iridocorneal endothelial syndrome
ORPHA:64734: ICE syndrome
ORPHA:64739: Ovarian hyperstimulation syndrome
ORPHA:64739: OHSS
ORPHA:64741: Pulmonary blastoma
ORPHA:64741: Pneumoblastoma
ORPHA:64742: Pleuropulmonary blastoma
ORPHA:64743: Hepatoportal sclerosis
ORPHA:64743: Obliterative portal venopathy
ORPHA:64744: IgG4-related thyroid disease
ORPHA:64744: Riedel disease
ORPHA:64744: Riedel thyroiditis
ORPHA:64745: Pruritic urticarial papules and plaques of pregnancy
ORPHA:64745: PUPPP
ORPHA:64745: Polymorphic eruption of pregnancy
ORPHA:64746: Autosomal dominant Charcot-Marie-Tooth disease type 2
ORPHA:64746: Autosomal dominant axonal Charcot-Marie-Tooth disease
ORPHA:64746: CMT2
ORPHA:64746: Hereditary motor and sensory neuropathy type 2
ORPHA:64747: X-linked Charcot-Marie-Tooth disease
ORPHA:64747: CMTX
ORPHA:64747: X-linked hereditary motor and sensory neuropathy
ORPHA:64748: Dejerine-Sottas syndrome
ORPHA:64748: Charcot-Marie-Tooth disease type 3
ORPHA:64748: HMSN 3
ORPHA:64748: HMSN III
ORPHA:64748: Hereditary motor and sensory neuropathy type 3
ORPHA:64748: Hereditary motor and sensory neuropathy type III
ORPHA:64749: Charcot-Marie-Tooth disease type 4
ORPHA:64749: AR-CMT1
ORPHA:64749: Autosomal recessive demyelinating Charcot-Marie-Tooth
ORPHA:64749: CMT4
ORPHA:64751: Hereditary motor and sensory neuropathy type 5
ORPHA:64751: Charcot-Marie-Tooth disease-pyramidal features syndrome
ORPHA:64751: HMSN 5
ORPHA:64751: HMSN V
ORPHA:64751: Hereditary motor and sensory neuropathy type V
ORPHA:64752: Hereditary sensory and autonomic neuropathy type 5
ORPHA:64752: CIP
ORPHA:64752: Congenital insensitivity to pain and thermal analgesia
ORPHA:64752: HSAN5
ORPHA:64752: Hereditary sensory and autonomic neuropathy type V
ORPHA:64753: Spinocerebellar ataxia with axonal neuropathy type 2
ORPHA:64753: AOA2
ORPHA:64753: Ataxia-oculomotor apraxia type 2
ORPHA:64753: SCAN 2
ORPHA:64753: SCAR1
ORPHA:64754: Nevus comedonicus syndrome
ORPHA:64755: Becker nevus syndrome
ORPHA:64755: Becker melanosis
ORPHA:64755: Becker naevus syndrome
ORPHA:64755: Pigmentary hairy epidermal nevus
ORPHA:64755: Pigmented hairy epidermal naevus
ORPHA:64755: Pigmented hairy epidermal nevus
ORPHA:647667: Mandibuloacral dysplasia associated to MTX2
ORPHA:647667: MADaM
ORPHA:647667: MDPS
ORPHA:647667: Mandibuloacral dysplasia progeroid syndrome
ORPHA:647676: Multiple epiphyseal dysplasia type 7
ORPHA:647676: CANT1-related multiple epiphyseal dysplasia
ORPHA:647676: EDM7
ORPHA:647676: MED7
ORPHA:647681: Craniosynostosis-facial dysmorphism-Chiari-1 malformation-developmental and language delay syndrome
ORPHA:647681: ERF-related syndromic craniosynostosis
ORPHA:647758: Adrenal Cushing syndrome
ORPHA:647758: Adrenal CS
ORPHA:647768: Rare adrenocortical nodular disease with Cushing syndrome as a major feature
ORPHA:647772: Isolated primary pigmented nodular adrenocortical disease
ORPHA:647772: Isolated PPNAD
ORPHA:647772: i-PPNAD
ORPHA:647782: Isolated micronodular adrenocortical disease
ORPHA:647782: i-MAD
ORPHA:647788: Neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome
ORPHA:647788: DHX30-related neurodevelopmental delay-intellectual disability-ataxia-feeding difficulty syndrome
ORPHA:647788: DHX30-related neurodevelopmental disorder
ORPHA:647794: Isolated persistent urogenital sinus
ORPHA:647794: Isolated PUGS
ORPHA:647799: MYT1L-related developmental delay-intellectual disability-obesity syndrome
ORPHA:647799: MYT1L-associated neurodevelopmental disorder
ORPHA:647804: Combined immunodeficiency due to FCHO1 deficiency
ORPHA:647811: Cardiac-urogenital syndrome
ORPHA:647811: MYRF-related cardiac urogenital syndrome
ORPHA:647815: Keratitis fugax hereditaria
ORPHA:647815: KFH
ORPHA:647815: Keratoendotheliitis fugax hereditaria
ORPHA:647823: Idiopathic pregnancy-associated osteoporosis
ORPHA:647823: Idiopathic premenopausal osteoporosis associated with pregnancy
ORPHA:647823: Osteoporosis of pregnancy
ORPHA:647823: PAO
ORPHA:647823: PLO
ORPHA:647823: Pregnancy and lactation-associated osteoporosis
ORPHA:647823: Pregnancy induced osteoporosis
ORPHA:647834: SLC40A1-related hemochromatosis
ORPHA:647916: Conjoined twins
ORPHA:647916: Siamese twins
ORPHA:648: Noonan syndrome
ORPHA:648559: Rare scleritis
ORPHA:648562: Ferroportin disease
ORPHA:648569: Non-HFE-related hemochromatosis
ORPHA:648581: Digenic hemochromatosis
ORPHA:648665: Infectious scleritis
ORPHA:648675: Idiopathic scleritis
ORPHA:648681: Immune-mediated scleritis
ORPHA:648684: Central retinal artery occlusion
ORPHA:648684: CRAO
ORPHA:648919: Idiopathic catatonia
ORPHA:648919: Idiopathic catatonic syndrome
ORPHA:648919: Isolated catatonia
ORPHA:648919: Isolated catatonic syndrome
ORPHA:648992: Non-syndromic bridging bronchus
ORPHA:649: Norrie disease
ORPHA:649: Atrophia bulborum hereditaria
ORPHA:649: Episkopi blindness
ORPHA:649: Norrie-Warburg disease
ORPHA:649010: Non-syndromic congenital bronchial atresia
ORPHA:649010: Non-syndromic CBA
ORPHA:649014: Bronchial malformation
ORPHA:649017: Rare adrenocortical nodular disease
ORPHA:649029: Isolated left bronchial isomerism
ORPHA:649029: Left bronchial isomerism without heterotaxy
ORPHA:649929: Central precocious puberty in male
ORPHA:649929: CPP in boy
ORPHA:649929: CPP in male
ORPHA:649929: Central precocious puberty in boy
ORPHA:65: Leber congenital amaurosis
ORPHA:65: Amaurosis congenita of Leber
ORPHA:650: LCAT deficiency
ORPHA:650: Lecithin-cholesterol acyltransferase deficiency
ORPHA:650063: Rare central precocious puberty
ORPHA:650063: Gonadotropin-dependant precocious puberty
ORPHA:650063: Rare CPP
ORPHA:650070: Rare central precocious puberty in female
ORPHA:650070: Rare CPP in female
ORPHA:650070: Rare central precocious puberty in girl
ORPHA:650077: Genetic central precocious puberty in female
ORPHA:650077: Genetic CPP in female
ORPHA:650077: Genetic CPP in girl
ORPHA:650077: Genetic central precocious puberty in girl
ORPHA:650082: Secondary central precocious puberty in female
ORPHA:650082: Secondary CPP in female
ORPHA:650082: Secondary CPP in girl
ORPHA:650082: Secondary central precocious puberty in girl
ORPHA:650087: Primary central precocious puberty in male
ORPHA:650087: Primary CPP in boy
ORPHA:650087: Primary CPP in male
ORPHA:650087: Primary central precocious puberty in boy
ORPHA:650092: Secondary central precocious puberty in male
ORPHA:650092: Secondary CPP in boy
ORPHA:650092: Secondary CPP in male
ORPHA:650092: Secondary central precocious puberty in boy
ORPHA:650097: Genetic central precocious puberty in male
ORPHA:650097: Genetic CPP in boy
ORPHA:650097: Genetic CPP in male
ORPHA:650097: Genetic central precocious puberty in boy
ORPHA:650102: Non-genetic central precocious puberty in male
ORPHA:650102: Non-genetic CPP in boy
ORPHA:650102: Non-genetic CPP in male
ORPHA:650102: Non-genetic central precocious puberty in boy
ORPHA:650182: Genetic central precocious puberty
ORPHA:650182: Genetic CPP
ORPHA:650187: Rare peripheral precocious puberty in female
ORPHA:652: Multiple endocrine neoplasia type 1
ORPHA:652: MEN1
ORPHA:652: Wermer syndrome
ORPHA:652487: Developmental delay-overweight-facial dysmorphism-behavioral abnormalities syndrome
ORPHA:652510: Genetic autoinflammatory syndrome with acne and/or hidradenitis suppurativa
ORPHA:652514: Cleft palate-congenital heart defect-intellectual disability syndrome due to MEIS2 mutation
ORPHA:652519: Cleft palate-congenital heart defect-intellectual disability syndrome
ORPHA:652522: Periodic fever-immunodeficiency-thrombocytopenia syndrome
ORPHA:652522: PFITS
ORPHA:652528: Non-syndromic supernumerary kidneys
ORPHA:652528: Non-syndromic accessory kidneys
ORPHA:652528: Non-syndromic accessory kydney
ORPHA:652528: Non-syndromic supernumerary kidney
ORPHA:652532: Adult-onset progressive leukoencephalopathy-early-onset deafness
ORPHA:652532: Adult-onset progressive leukoencephalopathy-early-onset hearing loss
ORPHA:652650: Nodal T-follicular helper cell lymphoma, follicular type
ORPHA:652650: Follicular T-cell Lymphoma
ORPHA:652650: Follicular helper T-cell lymphoma, follicular type
ORPHA:652650: Nodal T-cell lymphoma with TFH phenotype
ORPHA:652650: Nodal TFH lymphoma, follicular type
ORPHA:652650: nTFHL-F
ORPHA:652658: Monomorphic epitheliotropic intestinal T-cell lymphoma
ORPHA:652658: Enteropathy-associated T-cell lymphoma type 2
ORPHA:652658: MEITL
ORPHA:652668: Primary superior vena cava aneurysm
ORPHA:652668: SVCA
ORPHA:652678: Primary inferior vena cava aneurysm
ORPHA:652681: Idiopathic subglottic stenosis
ORPHA:652681: iSGS
ORPHA:65282: Carvajal syndrome
ORPHA:65282: KWWH type II
ORPHA:65282: Keratoderma with woolly hair type II
ORPHA:65282: Woolly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
ORPHA:65282: Woolly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
ORPHA:65282: Wooly hair-palmoplantar hyperkeratosis-dilated cardiomyopathy syndrome
ORPHA:65282: Wooly hair-palmoplantar keratoderma-dilated cardiomyopathy syndrome
ORPHA:65283: Timothy syndrome
ORPHA:65283: LQT8
ORPHA:65283: Long QT syndrome type 8
ORPHA:65283: Long QT syndrome-syndactyly syndrome
ORPHA:65284: Biotin-thiamine-responsive basal ganglia disease
ORPHA:65284: BBGD
ORPHA:65284: BTBGD
ORPHA:65284: Biotin-responsive basal ganglia disease
ORPHA:65285: Lhermitte-Duclos disease
ORPHA:65285: Dysplastic gangliocytoma of the cerebellum
ORPHA:65285: LDD
ORPHA:65286: 3q29 microdeletion syndrome
ORPHA:65286: 3q subtelomere deletion syndrome
ORPHA:65286: 3qter deletion
ORPHA:65286: Del(3)(q29)
ORPHA:65286: Monosomy 3q29
ORPHA:65286: Monosomy 3qter
ORPHA:65287: Beta-ureidopropionase deficiency
ORPHA:65287: Beta-alanine synthase deficiency
ORPHA:65288: Permanent neonatal diabetes mellitus-pancreatic and cerebellar agenesis syndrome
ORPHA:65288: Pancreatic and cerebellar agenesis
ORPHA:653: Multiple endocrine neoplasia type 2
ORPHA:653: MEN2
ORPHA:653434: Autoinflammatory syndrome with acne and/or hidradenitis suppurativa
ORPHA:653698: Lymphocytic mastitis
ORPHA:653698: Lymphocytic mastopathy
ORPHA:653698: Sclerosing lymphocytic lobulitis
ORPHA:653709: Cone rod dystrophy-short stature syndrome
ORPHA:653712: CHD4-related neurodevelopmental disorder
ORPHA:653712: CHD4-related neurodevelopmental syndrome
ORPHA:653712: Sifrim-Hitz-Weiss syndrome
ORPHA:653722: Digenic Alport syndrome
ORPHA:653725: Autosomal recessive limb-girdle muscular dystrophy, type 28
ORPHA:653725: LGMD, type 28
ORPHA:653725: LGMDR28
ORPHA:653725: Limb-girdle, type 28R
ORPHA:653728: Congenital insensitivity to pain syndrome, Marsili type
ORPHA:653728: Marsili syndrome
ORPHA:653751: X-linked combined immunodeficiency due to SASH3 deficiency
ORPHA:653751: X-linked CID due to SASH3 deficiency
ORPHA:653767: Jansen-de Vries syndrome
ORPHA:653767: Developmental delay-behavorial problems-small hands and feet-cyclic vomiting-dysmorphic features syndrome
ORPHA:653767: JDVS
ORPHA:653880: Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency
ORPHA:653880: Crotonase deficiency
ORPHA:653880: ECHS1D
ORPHA:654: Nephroblastoma
ORPHA:654: Renal embryonic tumor
ORPHA:654: Wilms tumor
ORPHA:655: Nephronophthisis
ORPHA:656: Hereditary steroid-resistant nephrotic syndrome
ORPHA:656: Familial idiopathic steroid-resistant nephrotic syndrome
ORPHA:656: Genetic FSGS
ORPHA:656: Genetic SRNS
ORPHA:656: Hereditary SRNS
ORPHA:656: Isolated SRNS
ORPHA:656: Monogenic SRNS
ORPHA:656071: Atrophic papulosis
ORPHA:656071: Degos disease
ORPHA:656071: Köhlmeier-Degos disease
ORPHA:656085: Benign atrophic papulosis
ORPHA:656085: BAP
ORPHA:656126: Segmental spinal dysgenesis
ORPHA:656126: SSD
ORPHA:656130: PBX1-related congenital anomalies of kidney and urinary tract syndrome
ORPHA:656130: PBX1-related syndromic CAKUT
ORPHA:656135: Intellectual disability-cupped ears syndrome
ORPHA:656135: Snijders Blok-Fisher syndrome
ORPHA:656279: 1p36.33 duplication syndrome
ORPHA:656283: Autosomal recessive combined immunodeficiency due to complete IL6ST deficiency
ORPHA:656283: AR CID due to complete GP130 deficiency
ORPHA:656283: AR CID due to complete IL6ST deficiency
ORPHA:656283: Autosomal recessive combined immunodeficiency due to complete IL6 signal transducer protein deficiency
ORPHA:656283: Autosomal recessive combined immunodeficiency due to complete glycoprotein 130 deficiency
ORPHA:656283: Stüve-Wiedemann syndrome type 2
ORPHA:656300: Autosomal recessive combined immunodeficiency due to partial IL6ST deficiency
ORPHA:656300: AR CID due to partial GP130 deficiency
ORPHA:656300: AR CID due to partial IL6ST deficiency
ORPHA:656300: Autosomal recessive combined immunodeficiency due to partial IL6 signal transducer protein deficiency