TaoMedAI/RareMedData huggingface dataset:
ORPHA:3416: Van Buchem disease
ORPHA:3417: Van den Bosch syndrome
ORPHA:342: Familial Mediterranean fever
ORPHA:342: Benign paroxysmal peritonitis
ORPHA:342: Benign recurrent polyserositis
ORPHA:342: FMF
ORPHA:342: Familial paroxysmal polyserositis
ORPHA:342: Periodic disease
ORPHA:34217: Naxos disease
ORPHA:34217: KWWH type I
ORPHA:34217: Keratoderma with woolly hair type I
ORPHA:34217: Keratosis palmoplantaris with arrythmogenic cardiomyopathy
ORPHA:34217: Naxos syndrome
ORPHA:34217: Palmoplantar hyperkeratosis with arrythmogenic cardiomyopathy
ORPHA:34217: Palmoplantar keratoderma with arrythmogenic cardiomyopathy
ORPHA:3424: Velo-facial-skeletal syndrome
ORPHA:3426: Double outlet right ventricle
ORPHA:3426: DORV
ORPHA:3427: Double outlet left ventricle
ORPHA:3427: DOLV
ORPHA:3429: Verloove Vanhorick-Brubakk syndrome
ORPHA:3429: Cleft lip-limb and heart malformations syndrome
ORPHA:343: Hyperimmunoglobulinemia D with periodic fever
ORPHA:343: HIDS
ORPHA:343: Hyper-IgD syndrome
ORPHA:343: Hyperimmunoglobinemia D with recurrent fever
ORPHA:343: Hyperimmunoglobulinemia D syndrome
ORPHA:343: Partial mevalonate kinase deficiency
ORPHA:3433: Microcephaly-brachydactyly-kyphoscoliosis syndrome
ORPHA:3433: Viljoen-Kallis-Voges syndrome
ORPHA:3434: MMEP syndrome
ORPHA:3434: MCOPS8
ORPHA:3434: Microcephaly-microphthalmia-ectrodactyly of lower limbs-prognathism syndrome
ORPHA:3434: Syndromic microphthalmia type 8
ORPHA:3434: Viljoen-Smart syndrome
ORPHA:3437: Vogt-Koyanagi-Harada disease
ORPHA:3437: Uveomenigitic syndrome
ORPHA:3439: Von Voss-Cherstvoy syndrome
ORPHA:3439: DK phocomelia syndrome
ORPHA:3439: Phocomelia-thrombocytopenia-encephalocele-urogenital malformations syndrome
ORPHA:3440: Waardenburg syndrome
ORPHA:3447: Weaver syndrome
ORPHA:3447: EZH2-related overgrowth syndrome
ORPHA:3447: Syndrome d'hypercroissance associé à EZH2
ORPHA:3448: Weaver-Williams syndrome
ORPHA:3449: Weill-Marchesani syndrome
ORPHA:3449: Spherophakia-brachymorphia syndrome
ORPHA:345: Dissecting cellulitis of the scalp
ORPHA:3451: Infantile epileptic spasms syndrome
ORPHA:3451: IESS
ORPHA:3451: West syndrome
ORPHA:34514: Telethonin-related limb-girdle muscular dystrophy R7
ORPHA:34514: Autosomal recessive limb-girdle muscular dystrophy type 2G
ORPHA:34514: LGMD due to telethonin deficiency
ORPHA:34514: LGMD type 2G
ORPHA:34514: LGMD2G
ORPHA:34514: Limb-girdle muscular dystrophy due to telethonin deficiency
ORPHA:34514: Limb-girdle muscular dystrophy type 2G
ORPHA:34514: Telethonin-related LGMD R7
ORPHA:34515: FKRP-related limb-girdle muscular dystrophy R9
ORPHA:34515: Autosomal recessive limb-girdle muscular dystrophy type 2I
ORPHA:34515: FKRP-related LGMD R9
ORPHA:34515: LGMD due to FKRP deficiency
ORPHA:34515: LGMD type 2I
ORPHA:34515: LGMD2I
ORPHA:34515: Limb-girdle muscular dystrophy due to FKRP deficiency
ORPHA:34515: Limb-girdle muscular dystrophy type 2I
ORPHA:34516: DNAJB6-related limb-girdle muscular dystrophy D1
ORPHA:34516: Autosomal dominant limb-girdle muscular dystrophy type 1D
ORPHA:34516: DNAJB6-related LGMD D1
ORPHA:34516: LGMD type 1D
ORPHA:34516: LGMD1D
ORPHA:34516: Limb-girdle muscular dystrophy type 1D
ORPHA:3452: Whipple disease
ORPHA:3452: Intestinal lipodystrophy
ORPHA:34520: Congenital muscular dystrophy with integrin alpha-7 deficiency
ORPHA:34520: Congenital muscular dystrophy with ITGA7 deficiency
ORPHA:34528: Autosomal dominant primary hypomagnesemia with hypocalciuria
ORPHA:34528: HOMG2
ORPHA:34528: Isolated autosomal dominant hypomagnesemia
ORPHA:34528: Isolated renal magnesium wasting
ORPHA:34528: Renal hypomagnesemia type 2
ORPHA:3453: Autoimmune polyendocrinopathy type 1
ORPHA:3453: APECED syndrome
ORPHA:3453: APS type 1
ORPHA:3453: APS1
ORPHA:3453: Autoimmune hypoparathyroidism-chronic candidiasis-Addison disease syndrome
ORPHA:3453: Autoimmune polyendocrine syndrome type 1
ORPHA:3453: Autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome
ORPHA:3453: Autoimmune polyglandular syndrome type 1
ORPHA:3453: HAM syndrome
ORPHA:3453: Hypoparathyroidism-Addison disease-mucocutaneous candidiasis syndrome
ORPHA:3453: MEDAC syndrome
ORPHA:3453: Multiple endocrine deficiency-Addison disease-candidiasis syndrome
ORPHA:34533: Corneal dystrophy
ORPHA:3454: Wieacker-Wolff syndrome
ORPHA:3454: Foot contractures-muscle atrophy-oculomotor apraxia syndrome
ORPHA:3455: Wiedemann-Rautenstrauch syndrome
ORPHA:3455: Neonatal progeroid syndrome
ORPHA:3456: Wildervanck syndrome
ORPHA:3456: Cervicooculoacoustic syndrome
ORPHA:34587: Danon disease
ORPHA:34587: GSD due to LAMP-2 deficiency
ORPHA:34587: GSD, type 2B
ORPHA:34587: GSD, type IIb
ORPHA:34587: Glycogen storage disease due to LAMP-2 deficiency
ORPHA:34587: Glycogen storage disease, type 2B
ORPHA:34587: Glycogen storage disease, type IIb
ORPHA:34587: Glycogenosis due to LAMP-2 deficiency
ORPHA:34587: Lysosomal glycogen storage disease with normal acid maltase activity
ORPHA:3459: Wilson-Turner syndrome
ORPHA:3459: WTS
ORPHA:3459: X-linked intellectual disability-gynecomastia-obesity syndrome
ORPHA:34592: Immunodeficiency by defective expression of MHC class I
ORPHA:34592: Bare lymphocyte syndrome type 1
ORPHA:34592: MHC class I deficiency
ORPHA:346: Quinquaud folliculitis decalvans
ORPHA:3463: Wolfram syndrome
ORPHA:3463: Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-deafness syndrome
ORPHA:3463: Arginine vasopressin deficiency- diabetes mellitus-optic atrophy-hearing loss syndrome
ORPHA:3463: DIDMOAD syndrome
ORPHA:3463: Diabetes insipidus-diabetes mellitus-optic atrophy-deafness syndrome
ORPHA:3463: Diabetes insipidus-diabetes mellitus-optic atrophy-hearing loss syndrome
ORPHA:3464: Woodhouse-Sakati syndrome
ORPHA:3464: Diabetes-hypogonadism-deafness-intellectual disability syndrome
ORPHA:3464: Diabetes-hypogonadism-hearing loss-intellectual disability syndrome
ORPHA:3465: Worster-Drought syndrome
ORPHA:3465: Congenital suprabulbar paresis
ORPHA:3466: WT limb-blood syndrome
ORPHA:3467: Hereditary xanthinuria
ORPHA:3467: Classic xanthinuria
ORPHA:3467: Xanthic urolithiasis
ORPHA:3467: Xanthine stone disease
ORPHA:3469: XK aprosencephaly syndrome
ORPHA:3469: Garcia-Lurie syndrome
ORPHA:3469: XK syndrome
ORPHA:3469: XK-aprosencephaly
ORPHA:347: Frasier syndrome
ORPHA:3471: Young syndrome
ORPHA:3471: Azoospermia-sinopulmonary infections syndrome
ORPHA:3471: Sinusitis-infertility syndrome
ORPHA:3472: Yunis-Varon syndrome
ORPHA:3472: Cleidocranial dysplasia-micrognathia-absent thumbs syndrome
ORPHA:3473: Zimmermann-Laband syndrome
ORPHA:3473: Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome
ORPHA:3473: Laband syndrome
ORPHA:3474: CHIME syndrome
ORPHA:3474: Coloboma-congenital heart disease-ichthyosiform dermatosis-intellectual disability-ear anomalies syndrome
ORPHA:3474: Congenital disorder of glycosylation due to PIGL deficiency
ORPHA:3474: Neuroectodermal dysplasia, CHIME type
ORPHA:3474: Neuroectodermal syndrome, Zunich type
ORPHA:3474: PIGL-CDG
ORPHA:3474: Zunich-Kaye syndrome
ORPHA:348: Fructose-1,6-bisphosphatase deficiency
ORPHA:348: FBPase deficiency
ORPHA:348: Fructose-1,6-diphosphatase deficiency
ORPHA:349: Fucosidosis
ORPHA:349: Alpha-L-fucosidase deficiency
ORPHA:35: Propionic acidemia
ORPHA:35: Ketotic hyperglycinemia
ORPHA:35: Propionic aciduria
ORPHA:35: Propionyl-CoA carboxylase deficiency
ORPHA:35062: Severe disseminated cytomegalovirus infection in immunocompetent patients
ORPHA:35062: Severe disseminated CMV infection in immunocompetent patients
ORPHA:35063: Fulminant viral hepatitis
ORPHA:35069: Infantile neuroaxonal dystrophy
ORPHA:35069: INAD
ORPHA:35069: INAD1
ORPHA:35069: PLAN
ORPHA:35069: Phospholipase A2-associated neurodegeneration
ORPHA:35069: Seitelberger disease
ORPHA:35078: T-B+ severe combined immunodeficiency due to JAK3 deficiency
ORPHA:35078: T-B+ SCID due to JAK3 deficiency
ORPHA:35093: Non-syndromic sagittal craniosynostosis
ORPHA:35093: Isolated sagittal craniosynostosis
ORPHA:35093: Isolated scaphocephaly
ORPHA:35093: Non-syndromic sagittal suture synostosis
ORPHA:35099: Non-syndromic bicoronal craniosynostosis
ORPHA:35099: Isolated bicoronal craniosynostosis
ORPHA:35099: Isolated brachycephaly
ORPHA:35099: Non-syndromic bilateral coronal suture synostosis
ORPHA:351: Galactosialidosis
ORPHA:351: Goldberg syndrome
ORPHA:351: Neuraminidase deficiency with beta-galactosidase deficiency
ORPHA:35107: Desmosterolosis
ORPHA:35120: Hemolytic anemia due to pyrimidine 5' nucleotidase deficiency
ORPHA:35120: P5N deficiency
ORPHA:35120: UMPH1 deficiency
ORPHA:35120: Uridine 5'-monophosphate hydrolase deficiency
ORPHA:35121: Lysosomal acid phosphatase deficiency
ORPHA:35122: Congenital sucrase-isomaltase deficiency
ORPHA:35122: CSID
ORPHA:35122: Congenital sucrose intolerance
ORPHA:35122: Disaccharide intolerance
ORPHA:35125: Epidermal nevus syndrome
ORPHA:35125: Epidermal hamartoma syndrome
ORPHA:35173: X-linked dominant chondrodysplasia punctata
ORPHA:35173: CDPX2
ORPHA:35173: CDPXD
ORPHA:35173: CPXD
ORPHA:35173: Chondrodystrophia calcificans congenita
ORPHA:35173: Conradi-Hünermann-Happle syndrome
ORPHA:35173: X-linked chondrodysplasia punctata type 2
ORPHA:352: Galactosemia
ORPHA:352301: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis
ORPHA:352306: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with central nervous system predominant involvement
ORPHA:352309: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with peripheral nerves predominant involvement
ORPHA:352312: Disorder of phospholipids, sphingolipids and fatty acids biosynthesis with skeletal muscle predominant involvement
ORPHA:352328: MEGDEL syndrome
ORPHA:352328: 3-methylglutaconic aciduria with deafness-encephalopathy-Leigh-like syndrome
ORPHA:352328: 3-methylglutaconic aciduria with hearing loss-encephalopathy-Leigh-like syndrome
ORPHA:352333: Congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome
ORPHA:352333: Congenital ichthyosis-intellectual disability-spastic tetraplegia syndrome
ORPHA:352333: ELOVL4-related neuro ichthyosis
ORPHA:352403: Spectrin-associated autosomal recessive cerebellar ataxia
ORPHA:352403: Autosomal recessive spinocerebellar ataxia type 14
ORPHA:352403: Infantile-onset spinocerebellar ataxia-psychomotor delay syndrome
ORPHA:352403: SCAR14
ORPHA:352403: SPARCA
ORPHA:352403: SPARCA1
ORPHA:352403: Spectrin-associated autosomal recessive cerebellar ataxia type 1
ORPHA:352447: Progressive external ophthalmoplegia-myopathy-emaciation syndrome
ORPHA:352447: Mitochondrial DNA maintenance syndrome due to MGME1 deficiency
ORPHA:352447: PEO-myopathy-emaciation syndrome
ORPHA:352447: mtDNA maintenance syndrome due to MGME1 deficiency
ORPHA:352456: Mitochondrial DNA maintenance syndrome
ORPHA:352456: mtDNA maintenance syndrome
ORPHA:352470: DNA2-related mitochondrial DNA deletion syndrome
ORPHA:352470: Mitochondrial DNA deletion syndrome with limb-girdle weakness
ORPHA:352470: Mitochondrial DNA deletion syndrome with progressive myopathy
ORPHA:352470: mtDNA deletion syndrome with limb-girdle weakness
ORPHA:352470: mtDNA deletion syndrome with progressive myopathy
ORPHA:352479: ISPD-related limb-girdle muscular dystrophy R20
ORPHA:352479: Autosomal recessive limb-girdle muscular dystrophy type 2U
ORPHA:352479: ISPD-related LGMD R20
ORPHA:352479: LGMD type 2U
ORPHA:352479: LGMD2U
ORPHA:352479: Limb-girdle muscular dystrophy type 2U
ORPHA:352490: Autism spectrum disorder due to AUTS2 deficiency
ORPHA:352490: ASD due to AUTS2 deficiency
ORPHA:352490: AUTS2 syndrome
ORPHA:352530: Intellectual disability-obesity-brain malformations-facial dysmorphism syndrome
ORPHA:352530: Autosomal recessive intellectual disability due to TRAPPC9 deficiency
ORPHA:352540: Oncogenic osteomalacia
ORPHA:352540: Oncogenic hypophosphatemic osteomalacia
ORPHA:352540: TIO
ORPHA:352540: Tumor-induced osteomalacia
ORPHA:352563: Infantile hypertrophic cardiomyopathy due to MRPL44 deficiency
ORPHA:352563: COXPD16
ORPHA:352563: Combined oxidative phosphorylation defect type 16
ORPHA:352577: Bainbridge-Ropers syndrome
ORPHA:352577: Severe feeding difficulties-failure to thrive-microcephaly due to ASXL3 deficiency syndrome
ORPHA:352582: Familial infantile myoclonic epilepsy
ORPHA:352582: FIME
ORPHA:352582: Familial infantile myoclonus epilepsy
ORPHA:352587: Focal epilepsy-intellectual disability-cerebro-cerebellar malformation
ORPHA:352587: Focal epilepsy-intellectual disability-dysarthria-ataxia syndrome
ORPHA:352596: Progressive myoclonic epilepsy with dystonia
ORPHA:352596: PMED
ORPHA:352596: Progressive myoclonus epilepsy with dystonia
ORPHA:352629: 16q24.1 microdeletion syndrome
ORPHA:352629: Del(16)(q24.1)
ORPHA:352629: Monosomy 16q24.1
ORPHA:352636: Phalangeal microgeodic syndrome
ORPHA:352636: Phalangeal osteolysis
ORPHA:352641: Autosomal recessive cerebellar ataxia with late-onset spasticity
ORPHA:352641: Autosomal recessive cerebellar ataxia due to GBA2 deficiency
ORPHA:352649: Brain dopamine-serotonin vesicular transport disease
ORPHA:352654: Early-onset progressive neurodegeneration-blindness-ataxia-spasticity syndrome
ORPHA:352654: Autosomal recessive spastic paraplegia type 79
ORPHA:352657: Hereditary benign intraepithelial dyskeratosis
ORPHA:352657: HBID
ORPHA:352657: Hereditary benign corneal intraepithelial dyskeratosis
ORPHA:352662: Corneal intraepithelial dyskeratosis-palmoplantar hyperkeratosis-laryngeal dyskeratosis syndrome
ORPHA:352665: Neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-skeletal anomalies syndrome due to 9q21.3 microdeletion
ORPHA:352665: 9q21.3 microdeletion syndrome
ORPHA:352665: Del(9)(q21.3)
ORPHA:352670: Autosomal dominant intermediate Charcot-Marie-Tooth disease type F
ORPHA:352670: CMTDIF
ORPHA:352675: X-linked Charcot-Marie-Tooth disease type 6
ORPHA:352675: CMT6X
ORPHA:352675: CMTX6
ORPHA:352682: Cobblestone lissencephaly without muscular or ocular involvement
ORPHA:352682: Cobblestone lissencephaly without muscular or eye involvement
ORPHA:352682: Lissencephaly type 2 without muscular or eye involvement
ORPHA:352682: Lissencephaly type 2 without muscular or ocular involvement
ORPHA:352687: Congenital muscular alpha-dystroglycanopathy with brain and eye anomalies
ORPHA:352687: Lissencephaly type 2 with muscular and ocular involvement
ORPHA:352687: MDDGA
ORPHA:352709: CLN13 disease
ORPHA:352709: Kufs type B disease
ORPHA:352709: Neuronal ceroid lipofuscinosis type 13
ORPHA:352712: Facial dysmorphism-immunodeficiency-livedo-short stature syndrome
ORPHA:352712: FILS syndrome
ORPHA:352718: Progressive retinal dystrophy due to retinol transport defect
ORPHA:352718: Retinol dystrophy-iris coloboma-comedogenic acne syndrome
ORPHA:352723: Attenuated Chédiak-Higashi syndrome
ORPHA:352723: Atypical Chédiak-Higashi syndrome
ORPHA:352728: Disorder of melanin metabolism
ORPHA:352731: Oculocutaneous albinism type 1
ORPHA:352731: OCA1
ORPHA:352734: Minimal pigment oculocutaneous albinism type 1
ORPHA:352734: MP OCA type 1
ORPHA:352734: OCA1-MP
ORPHA:352737: Temperature-sensitive oculocutaneous albinism type 1
ORPHA:352737: OCA1-TS
ORPHA:352737: TS OCA type 1
ORPHA:352745: Oculocutaneous albinism type 7
ORPHA:352745: OCA7
ORPHA:352763: Scleredema
ORPHA:352763: Buschke scleredema
ORPHA:353: Gamma-sarcoglycan-related limb-girdle muscular dystrophy R5
ORPHA:353: Autosomal recessive limb-girdle muscular dystrophy type 2C
ORPHA:353: Gamma-sarcoglycan-related LGMD R5
ORPHA:353: Gamma-sarcoglycanopathy
ORPHA:353: LGMD due to gamma-sarcoglycan deficiency
ORPHA:353: LGMD type 2C
ORPHA:353: LGMD2C
ORPHA:353: Limb-girdle muscular dystrophy due to gamma-sarcoglycan deficiency
ORPHA:353: Limb-girdle muscular dystrophy type 2C
ORPHA:353217: Epileptic encephalopathy with global cerebral demyelination
ORPHA:353217: AGC1 deficiency
ORPHA:353217: Mitochondrial aspartate-glutamate carrier 1 deficiency
ORPHA:353220: Familial primary localized cutaneous amyloidosis
ORPHA:353220: FPLCA
ORPHA:353253: Burning mouth syndrome
ORPHA:353253: BMS
ORPHA:353253: Oral dysesthesia
ORPHA:353253: Orodynia
ORPHA:353253: Stomatodynia
ORPHA:353253: Stomatopyrosis
ORPHA:353277: Rubinstein-Taybi syndrome due to CREBBP mutations
ORPHA:353281: Rubinstein-Taybi syndrome due to 16p13.3 microdeletion
ORPHA:353284: Rubinstein-Taybi syndrome due to EP300 haploinsufficiency
ORPHA:353298: Roifman syndrome
ORPHA:353298: Spondyloepiphyseal dysplasia-retinal dystrophy-immunodeficiency syndrome
ORPHA:353308: Pyruvate carboxylase deficiency, infantile type
ORPHA:353308: Pyruvate carboxylase deficiency type A
ORPHA:353314: Pyruvate carboxylase deficiency, severe neonatal type
ORPHA:353314: Pyruvate carboxylase deficiency type B
ORPHA:353320: Pyruvate carboxylase deficiency, benign type
ORPHA:353320: Pyruvate carboxylase deficiency type C
ORPHA:353327: Congenital myasthenic syndromes with glycosylation defect
ORPHA:353334: Congenital retinal arteriovenous communication
ORPHA:353334: Congenital arteriovenous anastomoses of the retina
ORPHA:353334: Congenital arteriovenous communication of the retina
ORPHA:353334: Congenital retinal arteriovenous anastomoses
ORPHA:353344: Idiopathic macular telangiectasia type 1
ORPHA:353344: Aneurysmal telangiectasia
ORPHA:353344: Visible and exudative idiopathic juxtafoveolar retinal telangiectasis
ORPHA:353351: Idiopathic macular telangiectasia type 3
ORPHA:353351: Occlusive idiopathic juxtafoveolar retinal telangiectasis
ORPHA:353356: Vasoproliferative tumor of the retina
ORPHA:353356: Retinal vasoproliferative tumor
ORPHA:353356: VPTR
ORPHA:353356: Vasoproliferative tumor of the ocular fundus
ORPHA:354: GM1 gangliosidosis
ORPHA:354: Beta-galactosidase-1 deficiency
ORPHA:354: GLB1 deficiency
ORPHA:354: Landing disease
ORPHA:355: Gaucher disease
ORPHA:355: Acid beta-glucosidase deficiency
ORPHA:355: Glucocerebrosidase deficiency
ORPHA:356: Gerstmann-Straussler-Scheinker syndrome
ORPHA:356: Subacute spongiform encephalopathy, Gerstmann-Straussler type
ORPHA:35612: Nanophthalmos
ORPHA:35612: Nanophthalmia
ORPHA:35656: Coenzyme Q10 deficiency
ORPHA:35656: CoQ10 deficiency
ORPHA:35664: ALDH18A1-related De Barsy syndrome
ORPHA:35664: Delta-1-pyrroline 5-carboxylate synthetase deficiency
ORPHA:35664: Neurocutaneous syndrome, Bicknell type
ORPHA:35664: P5CS deficiency
ORPHA:35686: Serpiginous choroiditis
ORPHA:35686: Geographic helicoid peripapillary choroidopathy
ORPHA:35687: Erdheim-Chester disease
ORPHA:35689: Primary lateral sclerosis
ORPHA:35689: Adult-onset PLS
ORPHA:35689: Adult-onset primary lateral sclerosis
ORPHA:35689: PLS
ORPHA:356947: 3q26q27 microdeletion syndrome
ORPHA:356947: Del(3)(q26q27)
ORPHA:356947: Monosomy 3q26q27
ORPHA:35696: Mitochondrial disorder due to a defect in mitochondrial protein synthesis
ORPHA:35696: COXPD
ORPHA:35696: Combined OXPHOS defect
ORPHA:35696: Combined OXPHOS deficiency
ORPHA:35696: Combined oxidative phosphorylation defect
ORPHA:356961: SLC35A2-CDG
ORPHA:356961: CDG syndrome type IIm
ORPHA:356961: CDG-IIm
ORPHA:356961: CDG2M
ORPHA:356961: Congenital disorder of glycosylation type 2m
ORPHA:356961: Congenital disorder of glycosylation type IIm
ORPHA:356978: D,L-2-hydroxyglutaric aciduria
ORPHA:356978: Combined D-2-hydroxyglutaric acidemia and L-2-hydroxyglutaric acidemia
ORPHA:356978: Combined D-2-hydroxyglutaric aciduria and L-2-hydroxyglutaric aciduria
ORPHA:356978: D,L-2-HGA
ORPHA:356978: D,L-2-hydroxyglutaric acidemia
ORPHA:35698: Mitochondrial DNA depletion syndrome
ORPHA:35698: mtDNA depletion syndrome
ORPHA:356996: ANK3-related intellectual disability-sleep disturbance syndrome
ORPHA:357001: 19p13.13 microdeletion syndrome
ORPHA:357001: Del(19)(p13.13)
ORPHA:357001: Monosomy 19p13.13
ORPHA:357008: Hemolytic uremic syndrome with DGKE deficiency
ORPHA:357008: HUS with DGKE deficiency
ORPHA:35701: 3-hydroxy-3-methylglutaryl-CoA synthase deficiency
ORPHA:35701: HMG-CoA synthase deficiency
ORPHA:357027: Hereditary retinoblastoma
ORPHA:357034: Non-hereditary retinoblastoma
ORPHA:35704: L-Arginine:glycine amidinotransferase deficiency
ORPHA:35704: AGAT deficiency
ORPHA:357043: Amyotrophic lateral sclerosis type 4
ORPHA:357043: ALS4
ORPHA:357043: Distal hereditary motor neuropathy with upper motor neuron signs
ORPHA:357043: dHMN with upper motor neuron signs
ORPHA:35705: Neurometabolic disorder due to serine deficiency
ORPHA:35705: Serine deficiency
ORPHA:357058: Autosomal recessive cutis laxa type 2A
ORPHA:357058: ARCL2A
ORPHA:35706: Glutaric acidemia type 3
ORPHA:35706: Glutaric aciduria type 3
ORPHA:35706: Glutaryl-CoA oxidase deficiency
ORPHA:357064: Autosomal recessive cutis laxa type 2B
ORPHA:357064: ARCL2, progeroid type
ORPHA:357064: ARCL2B
ORPHA:357064: Autosomal recessive cutis laxa type 2, progeroid type
ORPHA:357074: Autosomal recessive cutis laxa type 2, classic type
ORPHA:357074: ARCL2, Debré type
ORPHA:357074: ARCL2, classic type
ORPHA:357074: Autosomal recessive cutis laxa type 2, Debré type
ORPHA:35708: Aromatic L-amino acid decarboxylase deficiency
ORPHA:35708: AADC deficiency
ORPHA:35710: Glucose-galactose malabsorption
ORPHA:35710: SGLT1 deficiency
ORPHA:357107: Arterial thoracic outlet syndrome
ORPHA:357107: ATOS
ORPHA:357107: Arterial TOS
ORPHA:357107: Arterial cervical rib syndrome
ORPHA:357107: Arterial costoclavicular syndrome
ORPHA:357107: Arterial hyperabduction syndrome
ORPHA:357107: Arterial scalenus anticus syndrome
ORPHA:357107: Arterial thoracic outlet compression syndrome
ORPHA:357131: Venous thoracic outlet syndrome
ORPHA:357131: Effort subclavian vein thrombosis
ORPHA:357131: Paget-Schrotter disease
ORPHA:357131: VTOS
ORPHA:357131: Venous TOS
ORPHA:357131: Venous cervical rib syndrome
ORPHA:357131: Venous costoclavicular syndrome
ORPHA:357131: Venous hyperabduction syndrome
ORPHA:357131: Venous scalenus anticus syndrome
ORPHA:357131: Venous thoracic outlet compression syndrome
ORPHA:357154: Oral submucous fibrosis
ORPHA:357154: OSMF
ORPHA:357158: Mandibulofacial dysostosis-macroblepharon-macrostomia syndrome
ORPHA:357158: Macroblepharon-ectropion-hypertelorism-macrostomia syndrome
ORPHA:357175: Short ulna-dysmorphism-hypotonia-intellectual disability syndrome
ORPHA:357220: Primary essential cutis verticis gyrata
ORPHA:357225: Primary non-essential cutis verticis gyrata
ORPHA:357237: Combined immunodeficiency due to CARD11 deficiency
ORPHA:357237: CID due to CARD11 deficiency
ORPHA:357237: Combined immunodeficiency due to caspase recruitment domain family member 11 protein deficiency
ORPHA:357329: Combined immunodeficiency due to IL21R deficiency
ORPHA:357329: CID due to IL21R deficiency
ORPHA:357329: Combined immunodeficiency due to interleukin 21 receptor deficiency
ORPHA:357332: Syndactyly-camptodactyly and clinodactyly of fifth fingers-bifid toes syndrome
ORPHA:357332: Synactyly-camptodactyly and clinodactyly of fifth fingers-bifid halluces syndrome
ORPHA:357332: Wahab syndrome
ORPHA:35737: Morning glory disc anomaly
ORPHA:35737: Ectasic coloboma
ORPHA:35737: Morning glory syndrome
ORPHA:357502: Idiopathic nephrotic syndrome
ORPHA:357506: Genetic non-syndromic renal or urinary tract malformation
ORPHA:358: Gitelman syndrome
ORPHA:35807: Malignant germ cell tumor of ovary
ORPHA:35807: MOGCT
ORPHA:35807: Malignant ovarian germ cell tumor
ORPHA:35807: Ovarian germ cell cancer
ORPHA:35808: Malignant sex cord stromal tumor of ovary
ORPHA:35808: Malignant ovarian SCST
ORPHA:35808: Malignant ovarian sex cord-stromal tumor
ORPHA:35858: Imerslund-Gräsbeck syndrome
ORPHA:35858: Familial megaloblastic anemia
ORPHA:35858: Selective cobalamin malabsorption with proteinuria
ORPHA:35878: Hyperinsulinism-hyperammonemia syndrome
ORPHA:35878: HI/HA syndrome
ORPHA:35889: Acute opioid intoxication
ORPHA:359: Pediatric-onset glaucoma of genetic origin
ORPHA:359: Hereditary glaucoma
ORPHA:35909: Combined deficiency of factor V and factor VIII
ORPHA:35909: F5F8D
ORPHA:35909: FV and FVIII combined deficiency
ORPHA:35981: Polymicrogyria
ORPHA:36: Acrocallosal syndrome
ORPHA:36: ACS
ORPHA:360: Glioblastoma
ORPHA:360: GBM
ORPHA:360: Glioblastoma multiforme
ORPHA:361: Familial glucocorticoid deficiency
ORPHA:36204: Intestinal lymphangiectasia
ORPHA:36234: Bacterial toxic-shock syndrome
ORPHA:36234: Bacterial TSS
ORPHA:36235: Staphylococcal scarlet fever
ORPHA:36236: Staphylococcal scalded skin syndrome
ORPHA:36236: Generalized exfoliative disease
ORPHA:36236: SSSS
ORPHA:36237: Bullous impetigo
ORPHA:36238: Staphylococcal necrotizing pneumonia
ORPHA:36258: Buerger disease