TaoMedAI/RareMedData huggingface dataset:
ORPHA:90368: Hypotrichosis simplex of the scalp
ORPHA:90368: Hereditary hypotrichosis simplex of the scalp
ORPHA:90389: Telangiectasia macularis eruptiva perstans
ORPHA:90390: Anonychia-onychodystrophy syndrome
ORPHA:90393: Nodular lichen myxedematosus
ORPHA:90393: Atypical tuberous myxedema of Jadassohn-Dosseker
ORPHA:90394: Discrete papular lichen myxedematosus
ORPHA:90395: Papular mucinosis of infancy
ORPHA:90395: Cutaneous mucinosis of infancy
ORPHA:90396: Acral persistent papular mucinosis
ORPHA:90397: Self-healing papular mucinosis
ORPHA:90398: Localized lichen myxedematosus with mixed features of different subtypes
ORPHA:90399: Localized lichen myxedematosus with monoclonal gammopathy or systemic symptoms
ORPHA:904: Williams syndrome
ORPHA:904: Deletion 7q11.23
ORPHA:904: Monosomy 7q11.23
ORPHA:904: Williams-Beuren syndrome
ORPHA:90400: Scleromyxedema without monoclonal gammopathy
ORPHA:905: Wilson disease
ORPHA:905: Hepatolenticular degeneration
ORPHA:906: Wiskott-Aldrich syndrome
ORPHA:906: Eczema-thrombocytopenia-immunodeficiency syndrome
ORPHA:906: WAS
ORPHA:90625: Rare X-linked non-syndromic sensorineural deafness type DFN
ORPHA:90625: X-linked isolated neurosensory deafness type DFN
ORPHA:90625: X-linked isolated neurosensory hearing loss type DFN
ORPHA:90625: X-linked isolated sensorineural deafness type DFN
ORPHA:90625: X-linked isolated sensorineural hearing loss type DFN
ORPHA:90625: X-linked non-syndromic neurosensory deafness type DFN
ORPHA:90625: X-linked non-syndromic neurosensory hearing loss type DFN
ORPHA:90625: X-linked non-syndromic sensorineural hearing loss type DFN
ORPHA:90635: Rare autosomal dominant non-syndromic sensorineural deafness type DFNA
ORPHA:90635: Autosomal dominant isolated neurosensory deafness type DFNA
ORPHA:90635: Autosomal dominant isolated neurosensory hearing loss type DFNA
ORPHA:90635: Autosomal dominant isolated sensorineural deafness type DFNA
ORPHA:90635: Autosomal dominant isolated sensorineural hearing loss type DFNA
ORPHA:90635: Autosomal dominant non-syndromic neurosensory deafness type DFNA
ORPHA:90635: Autosomal dominant non-syndromic neurosensory hearing loss type DFNA
ORPHA:90635: Autosomal dominant non-syndromic sensorineural hearing loss type DFNA
ORPHA:90636: Rare autosomal recessive non-syndromic sensorineural deafness type DFNB
ORPHA:90636: Autosomal recessive isolated neurosensory deafness type DFNB
ORPHA:90636: Autosomal recessive isolated neurosensory hearing loss type DFNB
ORPHA:90636: Autosomal recessive isolated sensorineural deafness type DFNB
ORPHA:90636: Autosomal recessive isolated sensorineural hearing loss type DFNB
ORPHA:90636: Autosomal recessive non-syndromic neurosensory deafness type DFNB
ORPHA:90636: Autosomal recessive non-syndromic neurosensory hearing loss type DFNB
ORPHA:90636: Autosomal recessive non-syndromic sensorineural hearing loss type DFNB
ORPHA:90641: Rare mitochondrial non-syndromic sensorineural deafness
ORPHA:90641: Isolated mitochondrial neurosensory deafness
ORPHA:90641: Isolated mitochondrial neurosensory hearing loss
ORPHA:90641: Isolated mitochondrial sensorineural deafness
ORPHA:90641: Isolated mitochondrial sensorineural hearing loss
ORPHA:90641: Mitochondrial non-syndromic neurosensory deafness
ORPHA:90641: Mitochondrial non-syndromic neurosensory hearing loss
ORPHA:90641: Mitochondrial non-syndromic sensorineural hearing loss
ORPHA:90642: Syndromic genetic deafness
ORPHA:90642: Syndromic genetic hearing loss
ORPHA:90646: Deafness-hypogonadism syndrome
ORPHA:90646: Hearing loss-hypogonadism syndrome
ORPHA:90647: Jervell and Lange-Nielsen syndrome
ORPHA:90647: Long QT interval-deafness syndrome
ORPHA:90647: Long QT interval-hearing loss syndrome
ORPHA:90650: Otopalatodigital syndrome type 1
ORPHA:90650: OPD I syndrome
ORPHA:90650: OPD syndrome 1
ORPHA:90650: Taybi syndrome
ORPHA:90652: Otopalatodigital syndrome type 2
ORPHA:90652: OPD II syndrome
ORPHA:90652: OPD syndrome 2
ORPHA:90653: Stickler syndrome type 1
ORPHA:90654: Stickler syndrome type 2
ORPHA:90658: Charcot-Marie-Tooth disease type 1E
ORPHA:90658: CMT1E
ORPHA:90658: Charcot-Marie-Tooth disease-deafness syndrome
ORPHA:90658: Charcot-Marie-Tooth disease-hearing loss syndrome
ORPHA:90673: Hypothyroidism due to TSH receptor mutations
ORPHA:90674: Isolated thyroid-stimulating hormone deficiency
ORPHA:90674: Isolated TSH deficiency
ORPHA:90674: Isolated thyrotropin deficiency
ORPHA:90692: Rare endocrine growth disease
ORPHA:90695: Non-acquired panhypopituitarism
ORPHA:90695: Genetic panhypopituitarism
ORPHA:90771: Difference of sex development
ORPHA:90771: DSD
ORPHA:90771: Disorder of sex development
ORPHA:90776: 46,XX difference of sex development induced by fetal androgens excess
ORPHA:90776: 46,XX DSD induced by fetal androgens excess
ORPHA:90776: 46,XX disorder of sex development induced by fetal androgens excess
ORPHA:90783: 46,XY difference of sex development due to a testosterone synthesis defect
ORPHA:90783: 46,XY DSD due to a testosterone synthesis defect
ORPHA:90783: 46,XY disorder of sex development due to a testosterone synthesis defect
ORPHA:90786: 46,XY difference of sex development due to adrenal and testicular steroidogenesis defect
ORPHA:90786: 46,XY DSD due to adrenal and testicular steroidogenesis defect
ORPHA:90786: 46,XY disorder of sex development due to adrenal and testicular steroidogenesis defect
ORPHA:90787: 46,XY difference of sex development due to testicular steroidogenesis defect
ORPHA:90787: 46,XY DSD due to testicular steroidogenesis defect
ORPHA:90787: 46,XY disorder of sex development due to testicular steroidogenesis defect
ORPHA:90790: Congenital lipoid adrenal hyperplasia due to STAR deficency
ORPHA:90790: CLAH
ORPHA:90790: LCAH
ORPHA:90790: Lipoid CAH
ORPHA:90791: Congenital adrenal hyperplasia due to 3-beta-hydroxysteroid dehydrogenase deficiency
ORPHA:90791: CAH due to 3-beta-hydroxysteroid dehydrogenase deficiency
ORPHA:90793: Congenital adrenal hyperplasia due to 17-alpha-hydroxylase deficiency
ORPHA:90793: CAH due to 17-alpha-hydroxylase deficiency
ORPHA:90793: Combined 17-hydroxylase/17,20-lyase deficiency
ORPHA:90794: Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency
ORPHA:90794: Classic 21-OHD CAH
ORPHA:90795: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency
ORPHA:90795: CAH due to 11-beta-hydroxylase deficiency
ORPHA:90795: CYP11B1 deficiency
ORPHA:90796: 46,XY difference of sex development due to isolated 17,20-lyase deficiency
ORPHA:90796: 46,XY disorder of sex development due to isolated 17,20-lyase deficiency
ORPHA:90797: Partial androgen insensitivity syndrome
ORPHA:90797: PAIS
ORPHA:90797: Partial androgen resistance syndrome
ORPHA:908: Fragile X syndrome
ORPHA:908: FRAXA syndrome
ORPHA:908: FXS
ORPHA:908: FraX syndrome
ORPHA:908: Martin-Bell syndrome
ORPHA:909: Cerebrotendinous xanthomatosis
ORPHA:909: CTX
ORPHA:909: Sterol 27-hydroxylase deficiency
ORPHA:90970: Primary lipodystrophy
ORPHA:91: Aromatase deficiency
ORPHA:91: Congenital estrogen deficiency
ORPHA:910: Xeroderma pigmentosum
ORPHA:91024: Autosomal recessive axonal hereditary motor and sensory neuropathy
ORPHA:91024: AR-CMT2
ORPHA:91024: Autosomal recessive axonal Charcot-Marie-Tooth disease type 2
ORPHA:91088: Other metabolic disease
ORPHA:911: Combined immunodeficiency due to ZAP70 deficiency
ORPHA:911: Zeta-associated-protein 70 deficiency
ORPHA:91127: Adenovirus infection in immunocompromised patients
ORPHA:91130: Cardiomyopathy-hypotonia-lactic acidosis syndrome
ORPHA:91131: DK1-CDG
ORPHA:91131: CDG syndrome type Im
ORPHA:91131: CDG-Im
ORPHA:91131: CDG1M
ORPHA:91131: Carbohydrate deficient glycoprotein syndrome type Im
ORPHA:91131: Congenital disorder of glycosylation type 1m
ORPHA:91131: Congenital disorder of glycosylation type Im
ORPHA:91131: Dolichol kinase deficiency
ORPHA:91131: Hypotonia and ichthyosis due to dolichol phosphate deficiency
ORPHA:91132: Ichthyosis-hypotrichosis syndrome
ORPHA:91132: Hypotrichosis-congenital ichthyosis syndrome
ORPHA:91132: IFAH syndrome
ORPHA:91132: IHS
ORPHA:91132: Ichthyosis-follicular atrophoderma-hypotrichosis syndrome
ORPHA:91132: Ichthyosis-follicular atrophoderma-hypotrichosis-hypohidrosis syndrome
ORPHA:91135: Body skin hyperlaxity due to vitamin K-dependent coagulation factor deficiency
ORPHA:91135: PXE-like syndrome
ORPHA:91135: Pseudoxanthoma elasticum-like syndrome
ORPHA:91136: Acquired monoclonal Ig light chain-associated Fanconi syndrome
ORPHA:91136: Acquired Fanconi syndrome secondary to monoclonal gammopathy
ORPHA:91136: Acquired monoclonal immunoglobulin light chain-associated Fanconi syndrome
ORPHA:91137: Immunotactoid or fibrillary glomerulopathy
ORPHA:91137: Immunotactoid or fibrillary glomerulonephritis
ORPHA:91138: Cryoglobulinemic vasculitis
ORPHA:91138: Essential cryoglobulinemia
ORPHA:91138: Essential mixed cryoglobulinemia
ORPHA:91138: Mixed cryoglobulinemia
ORPHA:91138: Primary cryoglobulinemia
ORPHA:91139: Simple cryoglobulinemia
ORPHA:91139: Cryoglobulinemia type 1
ORPHA:91140: Unspecified juvenile idiopathic arthritis
ORPHA:91140: Unspecified JIA
ORPHA:91144: 46,XX difference of sex development induced by maternal-derived androgen
ORPHA:91144: 46,XX DSD induced by maternal-derived androgen
ORPHA:91144: 46,XX disorder of sex development induced by maternal-derived androgen
ORPHA:912: Zellweger syndrome
ORPHA:912: Cerebrohepatorenal syndrome
ORPHA:912: Severe PBD-ZSD
ORPHA:912: Severe peroxisome biogenesis disorder-Zellweger spectrum disorder
ORPHA:912: ZS
ORPHA:913: Zollinger-Ellison syndrome
ORPHA:913: Gastrinoma
ORPHA:91347: TSH-secreting pituitary adenoma
ORPHA:91347: Pituitary thyrotrophic adenoma
ORPHA:91347: TSH-oma
ORPHA:91347: Thyroid stimulating hormone-secreting pituitary adenoma
ORPHA:91347: Thyrotroph adenoma
ORPHA:91348: Functioning gonadotropic adenoma
ORPHA:91348: Functioning pituitary gonadotropic adenoma
ORPHA:91348: Gonadotroph adenoma
ORPHA:91349: Non-functioning pituitary adenoma
ORPHA:91349: NFPA
ORPHA:91350: Pituitary deficiency due to Rathke cleft cysts
ORPHA:91351: Pituitary dermoid and epidermoid cysts
ORPHA:91352: Germinoma of the central nervous system
ORPHA:91354: Pituitary deficiency due to empty sella turcica syndrome
ORPHA:91354: Hypopituitarism due to empty sella turcica syndrome
ORPHA:91355: Sheehan syndrome
ORPHA:91357: Duplication of the esophagus
ORPHA:91358: Congenital esophageal diverticulum
ORPHA:91358: Congenital esophageal pouch
ORPHA:91359: Chronic pneumonitis of infancy
ORPHA:91359: CPI
ORPHA:91364: Non-specific interstitial pneumonia
ORPHA:91364: NSIP
ORPHA:91364: Non-specific idiopathic interstitial pneumonia
ORPHA:91378: Hereditary angioedema
ORPHA:91378: Familial angioneurotic edema
ORPHA:91378: HAE
ORPHA:91378: Hereditary angioneurotic edema
ORPHA:91378: Hereditary bradykinine-induced angioedema
ORPHA:91378: Hereditary non histamine-induced angioedema
ORPHA:91385: Acquired angioedema
ORPHA:91385: AAE
ORPHA:91385: Acquired C1 inhibitor deficiency
ORPHA:91385: Acquired angioneurotic edema
ORPHA:91385: Acquired bradykinine-induced angioedema
ORPHA:91385: Acquired non histamine-induced angioedema
ORPHA:91387: Familial thoracic aortic aneurysm and aortic dissection
ORPHA:91387: Familial TAAD
ORPHA:91387: Familial non-syndromic thoracic aortic aneurysm and aortic dissection
ORPHA:91396: Isolated cryptophthalmia
ORPHA:91397: Isolated ankyloblepharon filiforme adnatum
ORPHA:91411: Congenital ptosis
ORPHA:91412: Marcus-Gunn syndrome
ORPHA:91412: Jaw-winking syndrome
ORPHA:91412: Mandibulo-palpebral synkinesis-ptosis syndrome
ORPHA:91412: Marcus-Gunn phenomenon
ORPHA:91413: Congenital Horner syndrome
ORPHA:91413: Congenital Claude-Bernard-Horner syndrome
ORPHA:91414: Pilomatrixoma
ORPHA:91414: Epithelioma calcificans of Malherbe
ORPHA:91414: Pilomatricoma
ORPHA:91416: Isolated congenital alacrima
ORPHA:91481: Ring dermoid of cornea
ORPHA:91481: Ring dermoid syndrome
ORPHA:91483: Rieger anomaly
ORPHA:91489: Isolated congenital megalocornea
ORPHA:91489: Congenital anterior megalophthalmia
ORPHA:91490: Isolated congenital sclerocornea
ORPHA:91491: Congenital ectropion uveae
ORPHA:91492: Early onset non-syndromic cataract
ORPHA:91494: Macular coloboma-cleft palate-hallux valgus syndrome
ORPHA:91495: Persistent hyperplastic primary vitreous
ORPHA:91495: Congenital retinal detachment
ORPHA:91495: NCRNA disease
ORPHA:91495: Non-syndromic congenital retinal non-attachment
ORPHA:91495: PFVS
ORPHA:91495: PHPV
ORPHA:91495: Persistent fetal vasculature syndrome
ORPHA:91496: Snowflake vitreoretinal degeneration
ORPHA:91498: Familial congenital palsy of trochlear nerve
ORPHA:915: Aarskog-Scott syndrome
ORPHA:915: Aarskog syndrome
ORPHA:915: Faciodigitogenital syndrome
ORPHA:915: Faciogenital dysplasia
ORPHA:91500: Tubulointerstitial nephritis and uveitis syndrome
ORPHA:91500: Dobrin syndrome
ORPHA:91500: TINU syndrome
ORPHA:91546: Lyme disease
ORPHA:91546: Lyme borreliosis
ORPHA:91547: Relapsing fever
ORPHA:916: Aase-Smith syndrome
ORPHA:916: Aase-Smith I syndrome
ORPHA:916: Hydrocephalus-cleft palate-joint contractures syndrome
ORPHA:92: Juvenile idiopathic arthritis
ORPHA:92: Juvenile chronic arthritis
ORPHA:92: Juvenile rheumatoid arthritis
ORPHA:920: Ablepharon macrostomia syndrome
ORPHA:92050: Congenital tufting enteropathy
ORPHA:92050: IED
ORPHA:92050: Intestinal epithelial dysplasia
ORPHA:92050: Non-syndromic congenital tufting enteropathy
ORPHA:921: Abruzzo-Erickson syndrome
ORPHA:921: CHARGE-like syndrome
ORPHA:921: Cleft palate-coloboma-deafness syndrome
ORPHA:921: Cleft palate-coloboma-hearing loss syndrome
ORPHA:922: Familial nasal acilia
ORPHA:926: Acatalasemia
ORPHA:926: Catalase deficiency
ORPHA:927: Hyperammonemia due to N-acetylglutamate synthase deficiency
ORPHA:927: NAGS deficiency
ORPHA:929: Achalasia-microcephaly syndrome
ORPHA:93: Aspartylglucosaminuria
ORPHA:93: Aspartylglucosaminidase deficiency
ORPHA:930: Idiopathic achalasia
ORPHA:930: Achalasia cardia
ORPHA:930: Idiopathic achalasia of esophagus
ORPHA:930: Primary achalasia
ORPHA:931: Isolated acheiropodia
ORPHA:931: Isolated acheiropody
ORPHA:93100: Renal agenesis, unilateral
ORPHA:93101: Renal hypoplasia
ORPHA:93108: Renal dysplasia
ORPHA:93108: Kidney dysplasia
ORPHA:93109: Congenital megacalycosis
ORPHA:93110: Posterior urethral valve
ORPHA:93110: PUV
ORPHA:93111: HNF1B-related autosomal dominant tubulointerstitial kidney disease
ORPHA:93111: ADTKD-HNF1B
ORPHA:93111: HNF1B-MODY
ORPHA:93111: HNF1B-related nephropathy
ORPHA:93111: MODY5
ORPHA:93111: Maturity-onset diabetes of the young type 5
ORPHA:93111: RCAD syndrome
ORPHA:93111: Renal cysts and diabetes syndrome
ORPHA:93111: Renal dysfunction-early-onset diabetes syndrome
ORPHA:93114: Autosomal dominant intermediate Charcot-Marie-Tooth disease type E
ORPHA:93114: CMTDIE
ORPHA:93114: Charcot-Marie-Tooth disease-nephropathy syndrome
ORPHA:93126: Pauci-immune glomerulonephritis
ORPHA:93160: Hypocalcemic vitamin D-resistant rickets
ORPHA:93160: HVDRR
ORPHA:93160: Hereditary vitamin D-resistant rickets
ORPHA:93160: VDDR II
ORPHA:93160: VDRR II
ORPHA:93160: Vitamin D-dependent rickets type II
ORPHA:93160: Vitamin D-resistant rickets type II
ORPHA:93164: Transient pseudohypoaldosteronism
ORPHA:93164: Secondary pseudohypoaldosteronism
ORPHA:93164: TPHA
ORPHA:93172: Renal dysplasia, unilateral
ORPHA:93172: Kidney dysplasia, unilateral
ORPHA:93173: Renal dysplasia, bilateral
ORPHA:93173: Kidney dysplasia, bilateral
ORPHA:93176: Unilateral congenital megacalycosis
ORPHA:93177: Congenital bilateral megacalycosis
ORPHA:932: Achondrogenesis
ORPHA:93256: Fragile X-associated tremor/ataxia syndrome
ORPHA:93256: FXTAS syndrome
ORPHA:93258: Pfeiffer syndrome type 1
ORPHA:93258: Classic Pfeiffer syndrome
ORPHA:93259: Pfeiffer syndrome type 2
ORPHA:93260: Pfeiffer syndrome type 3
ORPHA:93262: Crouzon syndrome-acanthosis nigricans syndrome
ORPHA:93262: Crouzon-dermoskeletal syndrome
ORPHA:93267: Cloverleaf skull-multiple congenital anomalies syndrome
ORPHA:93268: Short rib-polydactyly syndrome, Beemer-Langer type
ORPHA:93268: Short rib-polydactyly syndrome type 4
ORPHA:93269: Short rib-polydactyly syndrome, Majewski type
ORPHA:93269: Short rib-polydactyly syndrome type 2
ORPHA:93270: Short rib-polydactyly syndrome, Saldino-Noonan type
ORPHA:93270: Short rib-polydactyly syndrome type 1
ORPHA:93271: Short rib-polydactyly syndrome, Verma-Naumoff type
ORPHA:93271: Short rib-polydactyly syndrome type 3
ORPHA:93274: Thanatophoric dysplasia type 2
ORPHA:93274: Cloverleaf skull-micromelic bone dysplasia syndrome
ORPHA:93274: TD2
ORPHA:93274: Thanatophoric dwarfism type 2
ORPHA:93274: Thanatophoric dwarfism-cloverleaf skull syndrome
ORPHA:93276: Polyostotic fibrous dysplasia
ORPHA:93277: Monostotic fibrous dysplasia
ORPHA:93277: Jaffe-Lichtenstein disease
ORPHA:93279: Mild spondyloepiphyseal dysplasia due to COL2A1 mutation with early-onset osteoarthritis
ORPHA:93282: Spondyloepimetaphyseal dysplasia, PAPSS2 type
ORPHA:93282: Spondyloepimetaphyseal dysplasia, Pakistani type
ORPHA:93283: Spondyloepiphyseal dysplasia, Kimberley type
ORPHA:93284: Spondyloepiphyseal dysplasia tarda
ORPHA:93292: Adenoma of pancreas
ORPHA:93292: Pancreatic adenoma
ORPHA:93293: Okihiro syndrome
ORPHA:93293: Duane-radial ray syndrome
ORPHA:93296: Achondrogenesis type 2
ORPHA:93296: Achondrogenesis, Langer-Saldino type
ORPHA:93297: Hypochondrogenesis
ORPHA:93298: Achondrogenesis type 1B
ORPHA:93298: Achondrogenesis, Parenti-Fraccaro type
ORPHA:93299: Achondrogenesis type 1A
ORPHA:93299: Achondrogenesis, Houston-Harris type
ORPHA:93302: Brachyolmia, Maroteaux type
ORPHA:93302: Brachyolmia type 2
ORPHA:93304: Autosomal dominant brachyolmia
ORPHA:93304: Brachyolmia type 3
ORPHA:93307: Multiple epiphyseal dysplasia type 4
ORPHA:93307: Autosomal recessive multiple epiphyseal dysplasia
ORPHA:93307: EDM4
ORPHA:93307: MED4
ORPHA:93307: Polyepiphyseal dysplasia type 4
ORPHA:93307: rMED
ORPHA:93308: Multiple epiphyseal dysplasia type 1
ORPHA:93308: EDM1
ORPHA:93308: MED1
ORPHA:93308: Polyepiphyseal dysplasia type 1
ORPHA:93311: Multiple epiphyseal dysplasia type 5
ORPHA:93311: BHMED
ORPHA:93311: Bilateral hereditary micro-epiphyseal dysplasia
ORPHA:93311: EDM5
ORPHA:93311: MED5
ORPHA:93311: Polyepiphyseal dysplasia type 5
ORPHA:93314: Spondylometaphyseal dysplasia, Kozlowski type
ORPHA:93315: Spondylometaphyseal dysplasia, 'corner fracture' type
ORPHA:93315: Spondylometaphyseal dysplasia, Sutcliffe type
ORPHA:93316: Spondylometaphyseal dysplasia, Schmidt type
ORPHA:93316: Spondylometaphyseal dysplasia with severe genu valgum
ORPHA:93316: Spondylometaphyseal dysplasia, Algerian type
ORPHA:93317: Spondylometaphyseal dysplasia, Sedaghatian type
ORPHA:93320: Isolated ulnar hemimelia
ORPHA:93320: Isolated congenital longitudinal deficiency of the ulna
ORPHA:93320: Isolated ulnar clubhand
ORPHA:93320: Isolated ulnar deficiency of forearm
ORPHA:93320: Isolated ulnar longitudinal meromelia
ORPHA:93321: Isolated radial hemimelia
ORPHA:93321: Isolated congenital longitudinal deficiency of the radius
ORPHA:93321: Isolated radial club hand
ORPHA:93321: Isolated radial longitidinal meromelia
ORPHA:93321: Isolated radial ray agenesis
ORPHA:93322: Isolated tibial hemimelia
ORPHA:93322: Isolated congenital absence of tibia
ORPHA:93322: Isolated congenital aplasia and dysplasia of the tibia with intact fibula
ORPHA:93322: Isolated congenital longitudinal deficiency of the tibia
ORPHA:93322: Isolated tibial longitudinal meromelia
ORPHA:93323: Isolated fibular hemimelia
ORPHA:93323: Isolated congenital longitudinal deficiency of the fibula
ORPHA:93323: Isolated fibular deficiency
ORPHA:93323: Isolated fibular longitudinal meromelia
ORPHA:93324: Autosomal recessive Kenny-Caffey syndrome
ORPHA:93325: Autosomal dominant Kenny-Caffey syndrome
ORPHA:93328: Autosomal dominant omodysplasia
ORPHA:93329: Autosomal recessive omodysplasia
ORPHA:93329: Micromelic dysplasia-dislocation of radius syndrome
ORPHA:93333: Pelviscapular dysplasia
ORPHA:93333: Cousin syndrome
ORPHA:93333: Familial pelvis-scapular dysplasia
ORPHA:93334: Postaxial polydactyly type A
ORPHA:93335: Postaxial polydactyly type B
ORPHA:93336: Polydactyly of a triphalangeal thumb
ORPHA:93336: PPD2
ORPHA:93336: Preaxial polydactyly type 2
ORPHA:93337: Polydactyly of an index finger
ORPHA:93337: PPD3
ORPHA:93337: Preaxial polydactyly type 3
ORPHA:93338: Polysyndactyly
ORPHA:93338: PPD4
ORPHA:93338: Preaxial polydactyly type 4
ORPHA:93339: Polydactyly of a biphalangeal thumb and/or hallux
ORPHA:93339: PPD1
ORPHA:93339: Preaxial polydactyly type 1
ORPHA:93346: Spondyloepimetaphyseal dysplasia congenita, Strudwick type
ORPHA:93347: Anauxetic dysplasia
ORPHA:93347: Spondyloepimetaphyseal dysplasia, Menger type
ORPHA:93347: Spondyloepimetaphyseal dysplasia, anauxetic type
ORPHA:93349: X-linked spondyloepimetaphyseal dysplasia
ORPHA:93351: Spondyloepimetaphyseal dysplasia, Irapa type
ORPHA:93351: SEMD, Irapa type
ORPHA:93352: Spondyloepimetaphyseal dysplasia, Shohat type
ORPHA:93352: SEMD, Shohat type
ORPHA:93356: Spondyloepimetaphyseal dysplasia, Missouri type
ORPHA:93356: SEMD type 2
ORPHA:93356: SEMD, Missouri type
ORPHA:93356: Spondyloepimetaphyseal dysplasia type 2
ORPHA:93357: SPONASTRIME dysplasia
ORPHA:93357: Spondylar and nasal changes with striations of the metaphyses (SPONASTRIME) dysplasia
ORPHA:93357: Spondyloepimetaphyseal dysplasia, Sponastrime type
ORPHA:93358: Spondyloepimetaphyseal dysplasia-short limb-abnormal calcification syndrome
ORPHA:93360: Spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type
ORPHA:93360: SEMD-MD
ORPHA:93360: SEMDJL2
ORPHA:93360: Spondyloepimetaphyseal dysplasia with joint laxicity, Hall type
ORPHA:93360: Spondyloepimetaphyseal dysplasia with joint laxity type 2
ORPHA:93360: Spondyloepimetaphyseal dysplasia with multiple dislocations, Hall type
ORPHA:93372: Familial hypocalciuric hypercalcemia type 1
ORPHA:93372: FHH type 1
ORPHA:93382: Brachydactyly type A6
ORPHA:93382: Acromesomelic dysplasia, Osebold-Remondini type
ORPHA:93382: Osebold-Remondini syndrome
ORPHA:93383: Brachydactyly type B
ORPHA:93384: Brachydactyly type C
ORPHA:93387: Brachydactyly type E
ORPHA:93388: Brachydactyly type A1
ORPHA:93388: Brachydactyly, Farabee type
ORPHA:93394: Brachydactyly type A4
ORPHA:93394: Brachydactyly, Temtamy type
ORPHA:93394: Brachymesophalangy II and V
ORPHA:93396: Brachydactyly type A2
ORPHA:93396: Brachydactyly, Mohr-Wriedt type
ORPHA:93397: Brachydactyly type A7
ORPHA:93397: Brachydactyly, Smorgasbord type
ORPHA:93398: Genochondromatosis type 2
ORPHA:93399: Juvenile sialidosis type 2
ORPHA:93400: Congenital sialidosis type 2
ORPHA:93402: Syndactyly type 1
ORPHA:93403: Syndactyly type 2
ORPHA:93403: Synpolydactyly
ORPHA:93404: Syndactyly type 3
ORPHA:93404: SD3
ORPHA:93404: Syndactyly of fingers 4 and 5
ORPHA:93405: Syndactyly type 4
ORPHA:93405: Polysyndactyly, Haas type
ORPHA:93406: Syndactyly type 5
ORPHA:93406: Postaxial syndactyly with metacarpal synostosis
ORPHA:93406: SD5
ORPHA:93409: Brachydactyly-syndactyly, Zhao type
ORPHA:93419: Rare bone disease
ORPHA:93420: FGFR3-related chondrodysplasia
ORPHA:93421: Type 2 collagen-related bone disorder
ORPHA:93422: Type 11 collagen-related bone disorder
ORPHA:93423: Sulfation-related bone disorder
ORPHA:93425: Filamin-related bone disorder
ORPHA:93425: Bone filaminopathy
ORPHA:93426: Ciliopathies with major skeletal involvement
ORPHA:93426: SRP
ORPHA:93426: Short rib dysplasia
ORPHA:93429: Multiple epiphyseal dysplasia and pseudoachondroplasia
ORPHA:93430: Multiple metaphyseal dysplasia
ORPHA:93434: Spondylodysplastic dysplasia
ORPHA:93436: Acromelic dysplasia
ORPHA:93437: Acromesomelic dysplasia
ORPHA:93438: Mesomelic and rhizo-mesomelic dysplasia
ORPHA:93439: Campomelic dysplasia and related disorders
ORPHA:93439: Bent bone dysplasia
ORPHA:93440: Slender bone dysplasia
ORPHA:93441: Primary bone dysplasia with multiple joint dislocations
ORPHA:93441: Primary osteodysplasia with multiple joint dislocations
ORPHA:93441: Primary skeletal dysplasia with multiple joint dislocations
ORPHA:93442: Chondrodysplasia punctata
ORPHA:93442: CDP
ORPHA:93443: Neonatal osteosclerotic dysplasia
ORPHA:93444: Primary bone dysplasia with increased bone density
ORPHA:93444: Primary osteodysplasia with increased bone density
ORPHA:93444: Primary skeletal dysplasia with increased bone density
ORPHA:93444: Sclerosing bone dysplasia
ORPHA:93446: Primary bone dysplasia with decreased bone density