TaoMedAI/RareMedData huggingface dataset:
ORPHA:319504: Combined oxidative phosphorylation defect type 8
ORPHA:319504: COXPD8
ORPHA:319509: Combined oxidative phosphorylation defect type 9
ORPHA:319509: COXPD9
ORPHA:319514: Combined oxidative phosphorylation defect type 13
ORPHA:319514: COXPD13
ORPHA:319519: Combined oxidative phosphorylation defect type 14
ORPHA:319519: COXPD14
ORPHA:319524: Combined oxidative phosphorylation defect type 15
ORPHA:319524: COXPD15
ORPHA:319535: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a complete deficiency
ORPHA:319535: Autosomal recessive MSMD due to a complete deficiency
ORPHA:319539: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to a partial deficiency
ORPHA:319539: Autosomal recessive MSMD due to a partial deficiency
ORPHA:319543: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to a partial deficiency
ORPHA:319543: Autosomal dominant MSMD due to a partial deficiency
ORPHA:319547: Mendelian susceptibility to mycobacterial diseases due to complete IFNgammaR2 deficiency
ORPHA:319547: MSMD due to complete IFNgammaR2 deficiency
ORPHA:319547: MSMD due to complete interferon gamma receptor 2 deficiency
ORPHA:319547: Mendelian susceptibility to mycobacterial diseases due to complete interferon gamma receptor 2 deficiency
ORPHA:319552: Mendelian susceptibility to mycobacterial diseases due to complete IL12RB1 deficiency
ORPHA:319552: MSMD due to complete IL12RB1 deficiency
ORPHA:319552: MSMD due to complete interleukin 12 receptor beta 1 deficiency
ORPHA:319552: Mendelian susceptibility to interleukin 12 receptor beta 1 deficiency
ORPHA:319558: Mendelian susceptibility to mycobacterial diseases due to complete IL12B deficiency
ORPHA:319558: MSMD due to complete IL12B deficiency
ORPHA:319558: MSMD due to complete interleukin 12B deficiency
ORPHA:319558: Mendelian susceptibility to mycobacterial diseases due to complete interleukin 12B deficiency
ORPHA:319563: Mendelian susceptibility to mycobacterial diseases due to complete ISG15 deficiency
ORPHA:319563: MSMD due to complete ISG15 deficiency
ORPHA:319569: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
ORPHA:319569: Autosomal recessive MSMD due to partial IFNgammaR1 deficiency
ORPHA:319569: Autosomal recessive MSMD due to partial interferon gamma receptor 1 deficiency
ORPHA:319569: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
ORPHA:319574: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
ORPHA:319574: Autosomal recessive MSMD due to partial IFNgammaR2 deficiency
ORPHA:319574: Autosomal recessive MSMD due to partial interferon gamma receptor 2 deficiency
ORPHA:319574: Autosomal recessive mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
ORPHA:319581: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR1 deficiency
ORPHA:319581: Autosomal dominant MSMD due to partial IFNgammaR1 deficiency
ORPHA:319581: Autosomal dominant MSMD due to partial interferon gamma receptor 1 deficiency
ORPHA:319581: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 1 deficiency
ORPHA:319589: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial IFNgammaR2 deficiency
ORPHA:319589: Autosomal dominant MSMD due to partial IFNgammaR2 deficiency
ORPHA:319589: Autosomal dominant MSMD due to partial interferon gamma receptor 2 deficiency
ORPHA:319589: Autosomal dominant mendelian susceptibility to mycobacterial diseases due to partial interferon gamma receptor 2 deficiency
ORPHA:319595: Mendelian susceptibility to mycobacterial diseases due to partial STAT1 deficiency
ORPHA:319595: MSMD due to partial STAT1 deficiency
ORPHA:319595: MSMD due to partial signal transducer and activator of transcription 1 deficiency
ORPHA:319595: Mendelian susceptibility to mycobacterial diseases due to partial signal transducer and activator of transcription 1 deficiency
ORPHA:3196: Steroid dehydrogenase deficiency-dental anomalies syndrome
ORPHA:3196: Lyngstadaas syndrome
ORPHA:319600: Mendelian susceptibility to mycobacterial diseases due to partial IRF8 deficiency
ORPHA:319600: MSMD due to partial IRF8 deficiency
ORPHA:319600: MSMD due to partial interferon regulatory factor 8 deficiency
ORPHA:319600: Mendelian susceptibility to mycobacterial diseases due to partial interferon regulatory factor 8 deficiency
ORPHA:319605: X-linked mendelian susceptibility to mycobacterial diseases
ORPHA:319605: X-linked MSMD
ORPHA:319612: X-linked mendelian susceptibility to mycobacterial diseases due to IKBKG deficiency
ORPHA:319612: X-linked MSMD due to IKBKG deficiency
ORPHA:319612: X-linked MSMD due to NEMO deficiency
ORPHA:319612: X-linked mendelian susceptibility to mycobacterial diseases due to NEMO deficiency
ORPHA:319623: X-linked mendelian susceptibility to mycobacterial diseases due to CYBB deficiency
ORPHA:319623: X-linked MSMD due to CYBB deficiency
ORPHA:319635: Amyloidosis cutis dyschromia
ORPHA:319635: Amyloidosis cutis dyschromica
ORPHA:319640: Retinal macular dystrophy type 2
ORPHA:319640: MCDR2
ORPHA:319646: PGM1-CDG
ORPHA:319646: CDG syndrome type It
ORPHA:319646: CDG-It
ORPHA:319646: CDG1T
ORPHA:319646: Congenital disorder of glycosylation type 1t
ORPHA:319646: Congenital disorder of glycosylation type It
ORPHA:319646: PGM1-related congenital disorder of glycosylation
ORPHA:319646: Phosphoglucomutase-1 deficiency
ORPHA:319651: Constitutional megaloblastic anemia with severe neurologic disease
ORPHA:319651: DHFR deficiency
ORPHA:319651: Dihydrofolate reductase deficiency
ORPHA:319667: Primary lymphoma of the conjunctiva
ORPHA:319667: Primary lymphoid conjunctival tumor
ORPHA:319671: Alazami syndrome
ORPHA:319671: Microcephalic primordial dwarfism, Alazami type
ORPHA:319675: Microcephalic primordial dwarfism, Dauber type
ORPHA:319678: Encephalopathy-hypertrophic cardiomyopathy-renal tubular disease syndrome
ORPHA:3197: Hereditary hyperekplexia
ORPHA:3197: Congenital stiff man syndrome
ORPHA:3197: Familial startle disease
ORPHA:3197: Hereditary hyperexplexia
ORPHA:3197: Kok disease
ORPHA:3197: Stiff baby syndrome
ORPHA:319719: Autoinflammatory syndrome of childhood
ORPHA:3198: Stiff person spectrum disorder
ORPHA:3198: Moersch-Woltman syndrome
ORPHA:3198: SMS
ORPHA:3198: SPS
ORPHA:3198: Stiff man spectrum disorder
ORPHA:3199: Stimmler syndrome
ORPHA:32: Glutathione synthetase deficiency
ORPHA:32: Pyroglutamicaciduria
ORPHA:320: Apparent mineralocorticoid excess
ORPHA:320: 11-beta-hydroxysteroid dehydrogenase deficiency type 2
ORPHA:320: Ulick syndrome
ORPHA:3200: Arthrogryposis-ectodermal dysplasia syndrome
ORPHA:3200: Stoll-Alembik-Finck syndrome
ORPHA:3201: Ventricular extrasystoles with syncopal episodes-perodactyly-Robin sequence syndrome
ORPHA:3201: Stoll-Kieny-Dott syndrome
ORPHA:3202: Dehydrated hereditary stomatocytosis
ORPHA:3202: Hereditary xerocytosis
ORPHA:3203: Overhydrated hereditary stomatocytosis
ORPHA:320332: X-linked pure spastic paraplegia
ORPHA:320335: Pure or complex hereditary spastic paraplegia
ORPHA:320335: Pure or complex familial spastic paraplegia
ORPHA:320335: Pure or complicated familial spastic paraplegia
ORPHA:320335: Pure or complicated hereditary spastic paraplegia
ORPHA:320342: Pure or complex autosomal dominant spastic paraplegia
ORPHA:320342: Pure or complicated autosomal dominant spastic paraplegia
ORPHA:320346: Pure or complex autosomal recessive spastic paraplegia
ORPHA:320346: Pure or complicated autosomal recessive spastic paraplegia
ORPHA:320350: Pure or complex X-linked spastic paraplegia
ORPHA:320350: Pure or complicated X-linked spastic paraplegia
ORPHA:320355: Autosomal dominant spastic paraplegia type 41
ORPHA:320355: SPG41
ORPHA:320360: MT-ATP6-related mitochondrial spastic paraplegia
ORPHA:320360: Maternally-inherited SPG
ORPHA:320360: Maternally-inherited spastic paraplegia
ORPHA:320365: Autosomal dominant spastic paraplegia type 36
ORPHA:320365: SPG36
ORPHA:320370: Autosomal recessive spastic paraplegia type 43
ORPHA:320370: SPG43
ORPHA:320375: Autosomal recessive spastic paraplegia type 55
ORPHA:320375: SPG55
ORPHA:320380: Autosomal recessive spastic paraplegia type 54
ORPHA:320380: SPG54
ORPHA:320385: Hereditary sensory and autonomic neuropathy due to TECPR2 mutation
ORPHA:320385: Autosomal recessive spastic paraplegia type 49
ORPHA:320385: HSAN due to TECPR2 mutation
ORPHA:320385: SPG49
ORPHA:320391: Autosomal recessive spastic paraplegia type 46
ORPHA:320391: SPG46
ORPHA:320396: Autosomal recessive spastic paraplegia type 45
ORPHA:320396: Autosomal recessive spastic paraplegia type 65
ORPHA:320396: SPG45
ORPHA:320396: SPG65
ORPHA:3204: Stormorken-Sjaastad-Langslet syndrome
ORPHA:3204: Stormorken syndrome
ORPHA:3204: Thrombocytopathy-asplenia-miosis syndrome
ORPHA:320401: Autosomal recessive spastic paraplegia type 44
ORPHA:320401: SPG44
ORPHA:320406: Spastic paraplegia-optic atrophy-neuropathy syndrome
ORPHA:320406: SPOAN
ORPHA:320411: Autosomal recessive spastic paraplegia type 56
ORPHA:320411: SPG56
ORPHA:3205: Sturge-Weber syndrome
ORPHA:3205: Encephalofacial angiomatosis
ORPHA:3205: Encephalotrigeminal angiomatosis
ORPHA:3205: SWS
ORPHA:3205: Sturge-Weber-Dimitri syndrome
ORPHA:3205: Sturge-Weber-Krabbe angiomatosis
ORPHA:3205: Sturge-Weber-Krabbe syndrome
ORPHA:3206: Stüve-Wiedemann syndrome
ORPHA:3206: Neonatal Schwartz-Jampel syndrome
ORPHA:3206: SJS2
ORPHA:3206: STWS
ORPHA:3206: SWS
ORPHA:3206: Schwartz-Jampel syndrome type 2
ORPHA:3206: Stüve-Wiedemann dysplasia
ORPHA:3206: Stüve-Wiedemann syndrome type 1
ORPHA:3207: White matter hypoplasia-corpus callosum agenesis-intellectual disability syndrome
ORPHA:3207: Curatolo-Cilio-Pessagno syndrome
ORPHA:3208: Isolated succinate-CoQ reductase deficiency
ORPHA:3208: Isolated mitochondrial respiratory chain complex II deficiency
ORPHA:3208: Isolated succinate dehydrogenase deficiency
ORPHA:3208: Isolated succinate-coenzyme Q reductase deficiency
ORPHA:3208: Isolated succinate-ubiquinone reductase deficiency
ORPHA:321: Multiple osteochondromas
ORPHA:321: Bessel-Hagen disease
ORPHA:321: Multiple cartilaginous exostoses
ORPHA:3214: Deaf blind hypopigmentation syndrome, Yemenite type
ORPHA:3214: Warburg-Thomsen syndrome
ORPHA:3214: Yemenite deaf-blind hypopigmentation syndrome
ORPHA:3216: Conductive deafness-malformed external ear syndrome
ORPHA:3216: Conductive hearing loss-malformed external ear syndrome
ORPHA:3216: Mengel-Konigsmark syndrome
ORPHA:3217: Deafness-small bowel diverticulosis-neuropathy syndrome
ORPHA:3217: Groll-Hirschowitz syndrome
ORPHA:3217: Hearing loss-small bowel diverticulosis-neuropathy syndrome
ORPHA:3218: Deafness-epiphyseal dysplasia-short stature syndrome
ORPHA:3218: Chitty-Hall-Baraitser syndrome
ORPHA:3218: Hearing loss-epiphyseal dysplasia-short stature syndrome
ORPHA:3219: Fountain syndrome
ORPHA:3219: Deafness-skeletal dysplasia-coarse face with full lips syndrome
ORPHA:3219: Deafness-skeletal dysplasia-lip granuloma syndrome
ORPHA:3219: Hearing loss-skeletal dysplasia-coarse face with full lips syndrome
ORPHA:3219: Hearing loss-skeletal dysplasia-lip granuloma syndrome
ORPHA:322: Exstrophy-epispadias complex
ORPHA:322: BEEC
ORPHA:322: Bladder exstrophy-epispadias-cloacal extrophy complex
ORPHA:322: EEC
ORPHA:3220: Deafness-enamel hypoplasia-nail defects syndrome
ORPHA:3220: Hearing loss-enamel hypoplasia-nail defects syndrome
ORPHA:3220: Heimler syndrome
ORPHA:322126: Genetic tumor of hematopoietic and lymphoid tissues
ORPHA:3222: Phosphoribosylpyrophosphate synthetase superactivity
ORPHA:3222: PRPP synthetase superactivity
ORPHA:3222: PRPS1 superactivity
ORPHA:3224: Deafness-genital anomalies-metacarpal and metatarsal synostosis syndrome
ORPHA:3224: Hearing loss-genital anomalies-metacarpal and metatarsal synostosis syndrome
ORPHA:3224: Pfeiffer-Kapferer syndrome
ORPHA:3225: Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
ORPHA:3225: Tungland-Bellman syndrome
ORPHA:3230: Deafness-oligodontia syndrome
ORPHA:3230: Hearing loss-oligodontia syndrome
ORPHA:3231: Deafness-onychodystrophy syndrome
ORPHA:3231: Hearing loss-onychodystrophy syndrome
ORPHA:3232: Deafness-ear malformation-facial palsy syndrome
ORPHA:3232: Hearing loss-ear malformation-facial palsy syndrome
ORPHA:3232: Sellars-Beighton syndrome
ORPHA:3233: Cochleosaccular degeneration-cataract syndrome
ORPHA:3235: Progressive deafness with stapes fixation
ORPHA:3235: Progressive hearing loss with stapes fixation
ORPHA:3235: Stapedo-vestibular ankylosis
ORPHA:3235: Thies-Reis syndrome
ORPHA:3236: Conductive deafness-ptosis-skeletal anomalies syndrome
ORPHA:3236: Conductive hearing loss-ptosis-skeletal anomalies syndrome
ORPHA:3236: Jackson-Barr syndrome
ORPHA:3237: Multiple synostoses syndrome
ORPHA:3237: Deafness-Hermann type symphalangism syndrome
ORPHA:3237: Facio-audio-symphalangism
ORPHA:3237: Hearing loss-Hermann type symphalangism syndrome
ORPHA:3237: Symphalangism-brachydactyly syndrome
ORPHA:3237: WL syndrome
ORPHA:3238: Cardiospondylocarpofacial syndrome
ORPHA:3238: Forney syndrome
ORPHA:3238: Forney-Robinson-Pascoe syndrome
ORPHA:3238: Mitral regurgitation-deafness-skeletal anomalies syndrome
ORPHA:3238: Mitral regurgitation-hearing loss-skeletal anomalies syndrome
ORPHA:3239: Deafness-vitiligo-achalasia syndrome
ORPHA:3239: Hearing loss-vitiligo-achalasia syndrome
ORPHA:324: Fabry disease
ORPHA:324: Alpha-galactosidase A deficiency
ORPHA:324: Anderson-Fabry disease
ORPHA:324: FD
ORPHA:3240: Early-onset progressive leukoencephalopathy-central nervous system calcification-deafness-visual impairment syndrome
ORPHA:3240: Early onset progressive leukoencephalopathy- central nervous system calcification- hearing loss-visual impairment syndrome
ORPHA:3241: Deafness-craniofacial syndrome
ORPHA:3241: Hearing loss-craniofacial syndrome
ORPHA:3242: Renpenning syndrome
ORPHA:3242: X-linked intellectual disability due to PQBP1 mutations
ORPHA:3242: X-linked intellectual disability, Renpenning type
ORPHA:324262: Autosomal recessive congenital cerebellar ataxia due to MGLUR1 deficiency
ORPHA:324262: Autosomal recessive congenital cerebellar ataxia due to metabotropic glutamate receptor 1 deficiency
ORPHA:324262: Autosomal recessive spinocerebellar ataxia type 13
ORPHA:324262: SCAR13
ORPHA:324290: Early-onset Lafora body disease
ORPHA:324294: T-cell immunodeficiency with epidermodysplasia verruciformis
ORPHA:324294: T-cell immunodeficiency due to RHOH deficiency
ORPHA:324299: Multiple paragangliomas associated with polycythemia
ORPHA:324299: Multiple paragangliomas associated with erythrocytosis
ORPHA:324299: Paraganglioma-somatostatinoma-polycythemia syndrome
ORPHA:3243: Sweet syndrome
ORPHA:3243: Acute febrile neutrophilic dermatosis
ORPHA:324307: Severe lateral tibial bowing-short stature-mild winged scapula-mild facial dysmorphism syndrome
ORPHA:324313: 9p13 microdeletion syndrome
ORPHA:324313: Del(9)(p13)
ORPHA:324313: Monosomy 9p13
ORPHA:324321: Sinoatrial node dysfunction and deafness
ORPHA:324321: Sinoatrial node dysfunction and hearing loss
ORPHA:324353: Congenital achiasma
ORPHA:324364: Mixed sclerosing bone dystrophy with extra-skeletal manifestations
ORPHA:324381: Hereditary inclusion body myopathy type 4
ORPHA:324381: HIBM4
ORPHA:324410: X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
ORPHA:324416: Muscular hypertrophy-hepatomegaly-polyhydramnios syndrome
ORPHA:324422: ALG13-CDG
ORPHA:324422: CDG syndrome type Is
ORPHA:324422: CDG-Is
ORPHA:324422: CDG1S
ORPHA:324422: Congenital disorder of glycosylation type 1s
ORPHA:324422: Congenital disorder of glycosylation type Is
ORPHA:324442: Autosomal recessive axonal neuropathy with neuromyotonia
ORPHA:324442: ARAN-NM
ORPHA:324442: ARCMT2-NM
ORPHA:324442: Autosomal recessive Charcot-Marie-Tooth disease type 2 with neuromyotonia
ORPHA:324525: Hypertrophic cardiomyopathy with kidney anomalies due to mitochondrial DNA mutation
ORPHA:324525: Hypertrophic cardiomyopathy with kidney anomalies due to mtDNA mutation
ORPHA:324525: Hypertrophic cardiomyopathy with renal anomalies due to mitochondrial DNA mutation
ORPHA:324530: Autoinflammation-PLCG2-associated antibody deficiency-immune dysregulation
ORPHA:324530: APLAID
ORPHA:324535: Combined oxidative phosphorylation defect type 11
ORPHA:324535: COXPD11
ORPHA:324540: Aphonia-deafness-retinal dystrophy-bifid halluces-intellectual disability syndrome
ORPHA:324540: Aphonia-deafness-retinal dystrophy-duplicated halluces-intellectual disability syndrome
ORPHA:324540: Aphonia-hearing loss-retinal dystrophy-duplicated halluces-intellectual disability syndrome
ORPHA:324561: Hypopigmentation-punctate palmoplantar keratoderma syndrome
ORPHA:324561: Cole disease
ORPHA:324561: Guttate hypopigmentation and punctate palmoplantar keratoderma
ORPHA:324561: Hypopigmentation and punctate keratosis of the palms and soles
ORPHA:324569: Pontocerebellar hypoplasia type 8
ORPHA:324569: PCH8
ORPHA:324569: Pontocerebellar hypoplasia due to CHMP1A mutation
ORPHA:324575: Hyperinsulinism due to HNF1A deficiency
ORPHA:324575: Hyperinsulinemic hypoglycemia due to HNF1A deficiency
ORPHA:324581: Benign Samaritan congenital myopathy
ORPHA:324585: Autosomal dominant intermediate Charcot-Marie-Tooth disease with neuropathic pain
ORPHA:324585: Autosomal dominant intermediate CMT disease with neuropathic pain
ORPHA:324588: Familial dyskinesia and facial myokymia
ORPHA:324588: FDFM
ORPHA:3246: Symphalangism with multiple anomalies of hands and feet
ORPHA:3246: Learman syndrome
ORPHA:324601: X-linked cleft palate and ankyloglossia
ORPHA:324604: Classic multiminicore myopathy
ORPHA:324604: Classic MmD
ORPHA:324604: Classic multiminicore disease
ORPHA:324611: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to KIF5A mutation
ORPHA:324611: CMT2 due to KIF5A mutation
ORPHA:324625: Chikungunya
ORPHA:324632: Hendra virus infection
ORPHA:324636: Autoerythrocyte sensitization syndrome
ORPHA:324636: GDS
ORPHA:324636: Gardner-Diamond syndrome
ORPHA:324636: Painful bruising syndrome
ORPHA:324636: Psychogenic purpura
ORPHA:324648: Invasive non-typhoidal salmonellosis
ORPHA:324648: Invasive non-typhoidal salmonella disease
ORPHA:324648: iNTS disease
ORPHA:324703: ABetaL34V amyloidosis
ORPHA:324703: ABeta amyloidosis, Piedmont type
ORPHA:324703: ABetaL34V-related amyloidosis
ORPHA:324703: HCHWA, Piedmont type
ORPHA:324703: Hereditary cerebral hemorrhage with amyloidosis, Piedmont type
ORPHA:324708: ABeta amyloidosis, Iowa type
ORPHA:324708: ABetaD23N amyloidosis
ORPHA:324708: HCHWA, Iowa type
ORPHA:324708: Hereditary cerebral hemorrhage with amyloidosis, Iowa type
ORPHA:324713: ABeta amyloidosis, Italian type
ORPHA:324713: ABetaE22K amyloidosis
ORPHA:324713: HCHWA, Italian type
ORPHA:324713: Hereditary cerebral hemorrhage with amyloidosis, Italian type
ORPHA:324718: ABetaA21G amyloidosis
ORPHA:324718: ABeta amyloidosis, Flemish type
ORPHA:324718: ABetaA21G-related amyloidosis
ORPHA:324718: HCHWA, Flemish type
ORPHA:324718: Hereditary cerebral hemorrhage with amyloidosis, Flemish type
ORPHA:324723: ABeta amyloidosis, Arctic type
ORPHA:324723: ABetaE22G amyloidosis
ORPHA:324723: HCHWA, Arctic type
ORPHA:324723: Hereditary cerebral hemorrhage with amyloidosis, Arctic type
ORPHA:324737: SRD5A3-CDG
ORPHA:324737: CDG syndrome type Iq
ORPHA:324737: CDG-Iq
ORPHA:324737: CDG1Q
ORPHA:324737: Congenital disorder of glycosylation type 1q
ORPHA:324737: Congenital disorder of glycosylation type Iq
ORPHA:324761: Microcephalic primordial dwarfism
ORPHA:324764: Trichorhinophalangeal syndrome
ORPHA:324767: Non-familial rare disease with dilated cardiomyopathy
ORPHA:3248: Isolated distal symphalangism
ORPHA:324924: Hereditary periodic fever syndrome
ORPHA:324927: Pyogenic autoinflammatory syndrome
ORPHA:324930: Granulomatous autoinflammatory syndrome
ORPHA:324933: Mixed autoinflammatory and autoimmune syndrome
ORPHA:324936: Unclassified autoinflammatory syndrome
ORPHA:324939: Periodic fever syndrome of childhood
ORPHA:324942: Pyogenic autoinflammatory syndrome of childhood
ORPHA:324950: Granulomatous autoinflammatory syndrome of childhood
ORPHA:324953: Unclassified autoinflammatory syndrome of childhood
ORPHA:324960: Unexplained periodic fever syndrome of childhood
ORPHA:324964: Chronic nonbacterial osteomyelitis/Chronic recurrent multifocal osteomyelitis
ORPHA:324964: CNO/CRMO
ORPHA:324972: MAGIC syndrome
ORPHA:324972: Mouth and genital ulcers-inflamed cartilage syndrome
ORPHA:324977: Proteasome-associated autoinflammatory syndrome
ORPHA:324977: ALDD syndrome
ORPHA:324977: Autoinflammation-lipodystrophy-dermatosis syndrome
ORPHA:324977: PRAAS
ORPHA:324977: Proteasome disability syndrome
ORPHA:325: Congenital factor II deficiency
ORPHA:325: Dysprothrombinemia
ORPHA:325: Hypoprothrombinemia
ORPHA:325: Prothrombin deficiency
ORPHA:3250: Proximal symphalangism
ORPHA:3250: Symphalangism, Cushing type
ORPHA:325055: 46,XX disorder of gonadal development
ORPHA:325061: 46,XX difference of sex development induced by fetoplacental androgens excess
ORPHA:325061: 46,XX DSD induced by fetoplacental androgens excess
ORPHA:325061: 46,XX disorder of sex development induced by fetoplacental androgens excess
ORPHA:325093: 46,XX difference of sex development induced by endogenous maternal-derived androgen
ORPHA:325093: 46,XX DSD induced by endogenous maternal-derived androgen
ORPHA:325093: 46,XX disorder of sex development induced by endogenous maternal-derived androgen
ORPHA:325099: 46,XX difference of sex development induced by exogenous maternal-derived androgen
ORPHA:325099: 46,XX DSD induced by exogenous maternal-derived androgen
ORPHA:325099: 46,XX disorder of sex development induced by exogenous maternal-derived androgen
ORPHA:325109: Syndrome with 46,XX difference of sex development
ORPHA:325109: Syndrome with 46,XX DSD
ORPHA:325109: Syndrome with 46,XX disorder of sex development
ORPHA:325118: 46,XY disorder of gonadal development
ORPHA:325124: Testicular agenesis
ORPHA:325124: Bilateral anorchia
ORPHA:3253: Cleft lip/palate-ectodermal dysplasia syndrome
ORPHA:3253: CLPED1
ORPHA:3253: Cleft lip/palate-syndactyly-pili torti syndrome
ORPHA:3253: Syndactyly-ectodermal dysplasia-cleft/lip palate
ORPHA:3253: Zlotogora-Ogur syndrome
ORPHA:325345: 46,XY ovotesticular difference of sex development
ORPHA:325345: 46,XY ovotesticular DSD
ORPHA:325345: 46,XY ovotesticular disorder of sex development
ORPHA:325351: 46,XY difference of sex development of endocrine origin
ORPHA:325351: 46,XY DSD of endocrine origin
ORPHA:325351: 46,XY disorder of sex development of endocrine origin
ORPHA:325357: 46,XY difference of sex development due to impaired androgen production
ORPHA:325357: 46,XY DSD due to impaired androgen production
ORPHA:325357: 46,XY disorder of sex development due to impaired androgen production
ORPHA:325448: Leydig cell hypoplasia due to LHB deficiency
ORPHA:325448: 46,XY DSD due to LHB deficiency
ORPHA:325448: 46,XY DSD due to luteinizing hormone subunit beta deficiency
ORPHA:325448: 46,XY disorder of sex development due to LHB deficiency
ORPHA:325448: 46,XY disorder of sex development due to luteinizing hormone subunit beta deficiency
ORPHA:325448: Leydig cell hypoplasia due to luteinizing hormone subunit beta deficiency
ORPHA:3255: Filippi syndrome
ORPHA:3255: Type 1 syndactyly-microcephaly-intellectual disability syndrome
ORPHA:325511: 46,XY difference of sex development due to a cholesterol synthesis defect
ORPHA:325511: 46,XY DSD due to a cholesterol synthesis defect
ORPHA:325511: 46,XY disorder of sex development due to a cholesterol synthesis defect
ORPHA:325524: Classic congenital lipoid adrenal hyperplasia due to STAR deficency
ORPHA:325524: Classic CLAH
ORPHA:325529: Non-classic congenital lipoid adrenal hyperplasia due to STAR deficency
ORPHA:325537: 46,XY difference of sex development induced by maternal exposure to endocrine disruptors
ORPHA:325537: 46,XY DSD induced by maternal-exposure to endocrine disruptors
ORPHA:325537: 46,XY disorder of sex development induced by maternal exposure to endocrine disruptors
ORPHA:325546: Sex chromosome difference of sex development
ORPHA:325546: Sex chromosome DSD
ORPHA:325546: Sex chromosome disorder of sex development