TaoMedAI/RareMedData huggingface dataset:
ORPHA:263756: Partial monosomy of chromosome Xq
ORPHA:263756: Partial monosomy of the long arm of chromosome X
ORPHA:263768: Partial duplication of chromosome X syndrome
ORPHA:263768: Partial trisomy of chromosome X
ORPHA:263775: Partial duplication of the short arm of chromosome X syndrome
ORPHA:263775: Partial duplication of chromosome Xp
ORPHA:263775: Partial trisomy of  chromosome Xp
ORPHA:263775: Partial trisomy of the short arm of chromosome X
ORPHA:263783: Partial duplication of the long arm of chromosome X syndrome
ORPHA:263783: Partial duplication of chromosome Xq
ORPHA:263783: Partial trisomy of  chromosome Xq
ORPHA:263783: Partial trisomy of the long arm of chromosome X
ORPHA:263793: Uniparental disomy of chromosome X syndrome
ORPHA:263793: UPD(X)
ORPHA:2639: Fibular aplasia-complex brachydactyly syndrome
ORPHA:2639: Du Pan syndrome
ORPHA:264200: 14q22q23 microdeletion syndrome
ORPHA:264200: 14q22-q23 microdeletion syndrome
ORPHA:264200: Del(14)(q22q23)
ORPHA:264200: Monosomy 14q22-q23
ORPHA:264200: Monosomy 14q22q23
ORPHA:2643: Microcephalic primordial dwarfism, Toriello type
ORPHA:264431: Partial duplication of the short arm of chromosome 1 syndrome
ORPHA:264431: Partial duplication of chromosome 1p
ORPHA:264431: Partial trisomy of chromosome 1p
ORPHA:264450: Trisomy 8p syndrome
ORPHA:264450: Duplication 8p
ORPHA:2645: Osteoglosphonic dysplasia
ORPHA:2645: Osteoglophonic dwarfism
ORPHA:264580: Glycogen storage disease due to liver phosphorylase kinase deficiency
ORPHA:264580: GSD due to liver phosphorylase kinase deficiency
ORPHA:264580: GSD type 9A
ORPHA:264580: GSD type 9C
ORPHA:264580: GSD type IXa
ORPHA:264580: GSD type IXc
ORPHA:264580: Glycogen storage disease type 9A
ORPHA:264580: Glycogen storage disease type 9C
ORPHA:264580: Glycogen storage disease type IXa
ORPHA:264580: Glycogen storage disease type IXc
ORPHA:264580: Glycogenosis due to liver phosphorylase kinase deficiency
ORPHA:264580: Glycogenosis type 9A
ORPHA:264580: Glycogenosis type 9C
ORPHA:264580: Glycogenosis type IXa
ORPHA:264580: Glycogenosis type IXc
ORPHA:264580: XLG
ORPHA:264656: Interstitial lung disease specific to childhood
ORPHA:264656: ILD specific to childhood
ORPHA:264665: Primary interstitial lung disease specific to childhood
ORPHA:264665: Primary ILD specific to childhood
ORPHA:264670: Primary interstitial lung disease specific to childhood due to alveolar structure disorder
ORPHA:264670: Primary ILD specific to childhood due to alveolar structure disorder
ORPHA:264675: Hereditary pulmonary alveolar proteinosis
ORPHA:264675: Congenital PAP
ORPHA:264675: Congenital pulmonary alveolar proteinosis
ORPHA:264683: Primary interstitial lung disease specific to childhood due to alveolar vascular disorder
ORPHA:264683: Primary ILD specific to childhood due to alveolar vascular disorder
ORPHA:264688: Congenital chylothorax
ORPHA:264691: Isolated pulmonary capillaritis
ORPHA:264694: Interstitial lung disease specific to infancy
ORPHA:264694: ILD specific to infancy
ORPHA:264699: Secondary interstitial lung disease specific to childhood associated with a systemic disease
ORPHA:264699: Secondary  ILD specific to childhood associated with a systemic disease
ORPHA:264704: Secondary interstitial lung disease specific to childhood associated with a connective tissue disease
ORPHA:264704: Secondary  ILD specific to childhood associated with a connective tissue disease
ORPHA:264709: Secondary interstitial lung disease specific to childhood associated with a systemic vasculitis
ORPHA:264709: Secondary ILD specific to childhood associated with a systemic vasculitis
ORPHA:264714: Secondary interstitial lung disease specific to childhood associated with a granulomatous disease
ORPHA:264714: Secondary ILD specific to childhood associated with a granulomatous disease
ORPHA:264719: Secondary interstitial lung disease specific to childhood associated with a metabolic disease
ORPHA:264719: Secondary ILD specific to childhood associated with a metabolic disease
ORPHA:264735: Interstitial lung disease specific to adulthood
ORPHA:264735: ILD specific to adulthood
ORPHA:264740: Primary interstitial lung disease specific to adulthood
ORPHA:264740: Primary ILD specific to adulthood
ORPHA:264745: Secondary interstitial lung disease specific to adulthood associated with a systemic disease
ORPHA:264745: Secondary ILD specific to adulthood associated with a systemic disease
ORPHA:264757: Interstitial lung disease in childhood and adulthood
ORPHA:264757: ILD in childhood and adulthood
ORPHA:264762: Primary interstitial lung disease in childhood and adulthood
ORPHA:264762: Primary ILD in childhood and adulthood
ORPHA:264930: Primary interstitial lung disease in childhood and adulthood due to alveolar structure disorder
ORPHA:264930: Primary ILD in childhood and adulthood due to alveolar structure disorder
ORPHA:264935: Primary interstitial lung disease in childhood and adulthood due to alveolar vascular disorder
ORPHA:264935: Primary ILD in childhood and adulthood due to alveolar vascular disorder
ORPHA:264944: Secondary interstitial lung disease in childhood and adulthood
ORPHA:264944: Secondary ILD in childhood and adulthood
ORPHA:264949: Secondary interstitial lung disease in childhood and adulthood associated with a systemic disease
ORPHA:264949: Secondary ILD in childhood and adulthood associated with a systemic disease
ORPHA:264968: Secondary interstitial lung disease in childhood and adulthood associated with a metabolic disease
ORPHA:264968: Secondary ILD in childhood and adulthood associated with a metabolic disease
ORPHA:264973: Secondary interstitial lung disease in childhood and adulthood associated with a systemic vasculitis
ORPHA:264973: Secondary ILD in childhood and adulthood associated with a systemic vasculitis
ORPHA:264978: Drug or radiation exposure-related interstitial lung disease
ORPHA:264984: Exposure-related interstitial lung disease
ORPHA:264992: Genetic interstitial lung disease
ORPHA:264992: Genetic ILD
ORPHA:2655: Thanatophoric dysplasia
ORPHA:2655: TD
ORPHA:2658: Lenz-Majewski hyperostotic dwarfism
ORPHA:266: Autosomal dominant limb-girdle muscular dystrophy type 1A
ORPHA:266: LGMD1A
ORPHA:266: Limb-girdle muscular dystrophy due to myotilin deficiency
ORPHA:2662: Keipert syndrome
ORPHA:2662: Nasodigitoacoustic syndrome
ORPHA:2663: Nathalie syndrome
ORPHA:2663: Deafness-cataract-skeletal anomalies syndrome
ORPHA:2663: Sensorineural hearing loss-cataract-skeletal anomalies-cardiomyopathy syndrome
ORPHA:2665: Congenital mesoblastic nephroma
ORPHA:2666: Adult familial nephronophthisis-spastic quadriparesia syndrome
ORPHA:2668: Nephropathy-deafness-hyperparathyroidism syndrome
ORPHA:2668: Edwards-Patton-Dilly syndrome
ORPHA:2668: Nephropathy-hearing loss-hyperparathyroidism syndrome
ORPHA:2669: Nephrosis-deafness-urinary tract-digital malformations syndrome
ORPHA:2669: Braun-Bayer syndrome
ORPHA:2669: Nephrosis-hearing loss-urinary tract-digital malformations syndrome
ORPHA:267: Calpain-3-related limb-girdle muscular dystrophy R1
ORPHA:267: Autosomal recessive limb-girdle muscular dystrophy type 2A
ORPHA:267: Calpain-3-related LGMD R1
ORPHA:267: LGMD type 2A
ORPHA:267: LGMD2A
ORPHA:267: Limb-girdle muscular dystrophy due to calpain deficiency
ORPHA:267: Limb-girdle muscular dystrophy type 2A
ORPHA:267: Primary calpainopathy
ORPHA:2670: Pierson syndrome
ORPHA:2670: Microcoria-congenital nephrosis syndrome
ORPHA:2671: Neu-Laxova syndrome
ORPHA:2672: Neuhauser-Eichner-Opitz syndrome
ORPHA:2672: Recurrent encephalophathy of childhood
ORPHA:2673: Neurofaciodigitorenal syndrome
ORPHA:2673: Freire Maia-Pinheiro-Opitz syndrome
ORPHA:2674: Cyprus facial-neuromusculoskeletal syndrome
ORPHA:2678: Familial isolated café-au-lait macules
ORPHA:2678: CALs syndrome isolated
ORPHA:2678: Familial CALMs isolated
ORPHA:2678: Familial isolated CALSs
ORPHA:2678: Familial isolated café-au-lait spots
ORPHA:2678: Multiple isolated café-au-lait spots
ORPHA:2678: Multiple isolated café-au-lait syndrome
ORPHA:26790: Pseudomyxoma peritonei
ORPHA:26790: Adenomucinosis
ORPHA:26790: Gelatinous ascites
ORPHA:26790: PMP
ORPHA:26791: Multiple acyl-CoA dehydrogenase deficiency
ORPHA:26791: Glutaric acidemia type 2
ORPHA:26791: Glutaric aciduria type 2
ORPHA:26791: MAD deficiency
ORPHA:26791: MADD
ORPHA:26792: Short chain acyl-CoA dehydrogenase deficiency
ORPHA:26792: ACADS deficiency
ORPHA:26792: SCAD deficiency
ORPHA:26792: SCADD
ORPHA:26793: Very long chain acyl-CoA dehydrogenase deficiency
ORPHA:26793: VLCAD deficiency
ORPHA:26793: VLCADD
ORPHA:268: Dysferlin-related limb-girdle muscular dystrophy R2
ORPHA:268: Autosomal recessive limb-girdle muscular dystrophy type 2B
ORPHA:268: Dysferlin-related LGMD R2
ORPHA:268: LGMD due to dysferlin deficiency
ORPHA:268: LGMD type 2B
ORPHA:268: LGMD2B
ORPHA:268: Limb-girdle muscular dystrophy due to dysferlin deficiency
ORPHA:268: Limb-girdle muscular dystrophy type 2B
ORPHA:2680: Hypomyelination neuropathy-arthrogryposis syndrome
ORPHA:268114: RAS-associated autoimmune leukoproliferative disease
ORPHA:268114: RALD
ORPHA:268129: Spheroid body myopathy
ORPHA:268139: Intraocular medulloepithelioma
ORPHA:268139: Orbital medulloepithelioma
ORPHA:268145: Classic maple syrup urine disease
ORPHA:268145: Classic BCKD deficiency
ORPHA:268145: Classic MSUD
ORPHA:268145: Classic branched-chain alpha-ketoacid dehydrogenase deficiency
ORPHA:268145: Classic branched-chain ketoaciduria
ORPHA:268162: Intermediate maple syrup urine disease
ORPHA:268162: Intermediate BCKD deficiency
ORPHA:268162: Intermediate MSUD
ORPHA:268162: Intermediate branched-chain alpha-ketoacid dehydrogenase deficiency
ORPHA:268173: Intermittent maple syrup urine disease
ORPHA:268173: Intermittent BCKD deficiency
ORPHA:268173: Intermittent MSUD
ORPHA:268173: Intermittent branched-chain alpha-ketoacid dehydrogenase deficiency
ORPHA:268184: Thiamine-responsive maple syrup urine disease
ORPHA:268184: Thiamine-responsive BCKD deficiency
ORPHA:268184: Thiamine-responsive MSUD
ORPHA:268184: Thiamine-responsive branched-chain alpha-ketoacid dehydrogenase deficiency
ORPHA:268249: Mycophenolate mofetil embryopathy
ORPHA:268249: MMF embryopathy
ORPHA:268261: DYRK1A-related intellectual disability syndrome due to 21q22.13q22.2 microdeletion
ORPHA:268261: 21q22.13q22.2 microdeletion syndrome
ORPHA:268261: Del(21)(q22.13q22.2)
ORPHA:268261: Monosomy 21q22.13q22.2
ORPHA:268316: Complication in hemodialysis
ORPHA:268322: Hereditary thrombocytopenia with normal platelets
ORPHA:268337: Autosomal recessive intermediate Charcot-Marie-Tooth disease
ORPHA:268337: RI-CMT
ORPHA:268357: Neural tube closure defect
ORPHA:268363: Open iniencephaly
ORPHA:268366: Closed iniencephaly
ORPHA:268369: Open spinal dysraphism
ORPHA:268369: Open spina bifida
ORPHA:268369: Spina bifida aperta
ORPHA:2686: Cyclic neutropenia
ORPHA:268744: Spinal dysraphism with a posterior meningocele
ORPHA:268744: Spina bifida cystica
ORPHA:2688: Adult idiopathic neutropenia
ORPHA:2688: Adult chronic idiopathic neutropenia
ORPHA:268810: Isolated posterior meningocele
ORPHA:268813: Myelocystocele
ORPHA:268817: Cephalocele
ORPHA:268820: Cranial meningocele
ORPHA:268823: Occipital encephalocele
ORPHA:268826: Parietal encephalocele
ORPHA:268829: Basal encephalocele
ORPHA:268843: Malformation of the neurenteric canal, spinal cord and column
ORPHA:268861: Primary tethered cord syndrome
ORPHA:268861: Primary tethered spinal cord syndrome
ORPHA:268865: Neurenteric cyst
ORPHA:268868: Isolated amyelia
ORPHA:268882: Arnold-Chiari malformation type I
ORPHA:268882: Arnold-Chiari malformation type 1
ORPHA:268882: Chiari malformation type 1
ORPHA:268882: Chiari malformation type I
ORPHA:268920: Isolated megalencephaly
ORPHA:268920: Isolated macrencephaly
ORPHA:268926: Midline cerebral malformation
ORPHA:268926: Midline brain malformation
ORPHA:268936: Isolated arhinencephaly
ORPHA:268940: Bilateral polymicrogyria
ORPHA:268943: Unilateral polymicrogyria
ORPHA:268947: Unilateral focal polymicrogyria
ORPHA:268950: Cerebral cortical dysplasia
ORPHA:268950: Brain cortical dysplasia
ORPHA:268961: Isolated focal cortical dysplasia type I
ORPHA:268961: FCD type I
ORPHA:268973: Isolated focal cortical dysplasia type Ia
ORPHA:268973: FCD type Ia
ORPHA:268980: Isolated focal cortical dysplasia type Ib
ORPHA:268980: FCD type Ib
ORPHA:268987: Isolated focal cortical dysplasia type Ic
ORPHA:268987: FCD type Ic
ORPHA:268994: Isolated focal cortical dysplasia type II
ORPHA:268994: Cortical dysplasia, Taylor type
ORPHA:268994: FCD type II
ORPHA:268994: Isolated focal cortical dysplasia type 2
ORPHA:269: Facioscapulohumeral dystrophy
ORPHA:269: FSH dystrophy
ORPHA:269: FSHD
ORPHA:269: Facioscapulohumeral muscular dystrophy
ORPHA:269: Facioscapulohumeral myopathy
ORPHA:269: Landouzy-Dejerine dystrophy
ORPHA:269: Landouzy-Dejerine myopathy
ORPHA:2690: Neutropenia-monocytopenia-deafness syndrome
ORPHA:2690: Neutropenia-monocytopenia-hearing loss syndrome
ORPHA:269001: Isolated focal cortical dysplasia type IIa
ORPHA:269001: FCD type IIa
ORPHA:269008: Isolated focal cortical dysplasia type IIb
ORPHA:269008: FCD type IIb
ORPHA:269190: Encephaloclastic disorder
ORPHA:269194: Central nervous system cystic malformation
ORPHA:269197: Glioependymal/ependymal cyst
ORPHA:269203: Isolated cerebellar vermis agenesis
ORPHA:269206: Isolated total cerebellar vermis agenesis
ORPHA:269209: Isolated partial cerebellar vermis agenesis
ORPHA:269212: Isolated Dandy-Walker malformation with hydrocephalus
ORPHA:269215: Isolated Dandy-Walker malformation without hydrocephalus
ORPHA:269218: Isolated unilateral hemispheric cerebellar hypoplasia
ORPHA:269221: Isolated bilateral hemispheric cerebellar hypoplasia
ORPHA:269224: Global cerebellar malformation
ORPHA:269224: Diffuse cerebellar malformation
ORPHA:269229: Pontine tegmental cap dysplasia
ORPHA:269229: PTCD
ORPHA:2695: Bifid nose
ORPHA:269505: Congenital communicating hydrocephalus
ORPHA:269505: Congenital non-obstructive hydrocephalus
ORPHA:269510: Congenital non-communicating hydrocephalus
ORPHA:269510: Congenital obstructive hydrocephalus
ORPHA:269523: Syndrome with a cerebellar malformation as a major feature
ORPHA:269528: Syndrome with microcephaly as a major feature
ORPHA:269531: Other syndrome with a central nervous system malformation as a major feature
ORPHA:269546: Syndrome with a Dandy-Walker malformation as a major feature
ORPHA:269550: Genetic non-syndromic central nervous system malformation
ORPHA:269553: Genetic cerebral malformation
ORPHA:269553: Genetic brain malformation
ORPHA:269557: Genetic posterior fossa malformation
ORPHA:269560: Genetic cerebellar malformation
ORPHA:269564: Genetic syndrome with a central nervous system malformation as a major feature
ORPHA:269564: Genetic syndrome with a CNS malformation as major feature
ORPHA:269567: Genetic syndrome with a cerebellar malformation as a major feature
ORPHA:269570: Genetic syndrome with a Dandy-Walker malformation as a major feature
ORPHA:269573: Genetic syndrome with corpus callosum agenesis/dysgenesis as a major feature
ORPHA:2697: Arthrogryposis-renal dysfunction-cholestasis syndrome
ORPHA:2697: ARC syndrome
ORPHA:2698: Knuckle pads-leukonychia-sensorineural deafness-palmoplantar hyperkeratosis syndrome
ORPHA:2698: Bart-Pumphrey syndrome
ORPHA:2698: Knuckle pads-leukonychia-sensorineural deafness-palmoplantar keratoderma syndrome
ORPHA:2698: Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar hyperkeratosis syndrome
ORPHA:2698: Knuckle pads-leukonychia-sensorineural hearing loss-palmoplantar keratoderma syndrome
ORPHA:2699: Median nodule of the upper lip
ORPHA:27: Vitamin B12-unresponsive methylmalonic acidemia
ORPHA:27: Methylmalonyl-CoA mutase deficiency
ORPHA:27: Methylmalonyl-Coenzyme A mutase deficiency
ORPHA:27: Vitamin B12-unresponsive methylmalonic aciduria
ORPHA:270: Oculopharyngeal muscular dystrophy
ORPHA:270: OPMD
ORPHA:2700: Noma
ORPHA:2700: Cancrum oris
ORPHA:2701: Noonan syndrome-like disorder with loose anagen hair
ORPHA:2701: Mazzanti syndrome
ORPHA:2701: NS/LAH
ORPHA:2703: Port-wine nevi-mega cisterna magna-hydrocephalus syndrome
ORPHA:2703: Nova syndrome
ORPHA:2704: Urofacial syndrome
ORPHA:2704: Hydronephrosis-inverted smile syndrome
ORPHA:2704: Inverted smile-neurogenic bladder syndrome
ORPHA:2704: Ochoa facial syndrome
ORPHA:2704: Ochoa syndrome
ORPHA:2704: Partial facial palsy with urinary abnormalities
ORPHA:2707: Oculocerebrofacial syndrome, Kaufman type
ORPHA:2709: Oculodental syndrome, Rutherfurd type
ORPHA:2709: Gingival hypertrophy-corneal dystrophy
ORPHA:2709: Rutherfurd syndrome
ORPHA:2710: Oculodentodigital dysplasia
ORPHA:2710: Meyer-Schwickerath syndrome
ORPHA:2710: Meyer-Schwickerath-Weyers syndrome
ORPHA:2710: ODDD syndrome
ORPHA:2710: ODOD syndrome
ORPHA:2710: Oculo-dento-digital dysplasia
ORPHA:2710: Oculodentodigital syndrome
ORPHA:2710: Oculodentodigitalis dysplasia
ORPHA:2710: Oculodentoosseous dysplasia
ORPHA:2710: Osseous-oculo-dental dysplasia
ORPHA:2712: Oculofaciocardiodental syndrome
ORPHA:2712: Cataract-microphthalmia-radiculomegaly-cardiac septal defect syndrome
ORPHA:2712: OFCD syndrome
ORPHA:2713: Oculoosteocutaneous syndrome
ORPHA:2714: Oculo-palato-cerebral syndrome
ORPHA:2714: Oculo-palato-cerebral dwarfism
ORPHA:2715: Severe oculo-renal-cerebellar syndrome
ORPHA:2715: Hunter-Jurenka-Thompson syndrome
ORPHA:2715: ORC syndrome
ORPHA:2715: Oculorenocerebellar syndrome
ORPHA:2717: Oculotrichoanal syndrome
ORPHA:2717: MOTA syndrome
ORPHA:2717: Manitoba oculotrichoanal syndrome
ORPHA:2717: Marles syndrome
ORPHA:2717: Marles-Greenberg-Persaud syndrome
ORPHA:2718: Oculotrichodysplasia
ORPHA:2718: Cecato de Lima-Pinheiro syndrome
ORPHA:271832: Genetic soft tissue tumor
ORPHA:271832: Genetic mesenchymal tumor
ORPHA:271835: Genetic digestive tract tumor
ORPHA:271841: Genetic cardiac tumor
ORPHA:271844: Genetic urogenital tumor
ORPHA:271847: Genetic neuroendocrine tumor
ORPHA:271853: Genetic cardiac anomaly
ORPHA:271861: Hereditary ATTR amyloidosis
ORPHA:271861: ATTRv amyloidosis
ORPHA:271861: Familial TTR-related amyloidosis
ORPHA:271861: Familial transthyretin-related amyloidosis
ORPHA:271861: Hereditary TTR amyloid polyneuropathy
ORPHA:271861: Hereditary TTR amyloidosis
ORPHA:271861: Hereditary transthyretin amyloid polyneuropathy
ORPHA:271861: hATTR
ORPHA:271870: Rare genetic systemic or rheumatologic disease
ORPHA:2719: Oculocerebral hypopigmentation syndrome, Cross type
ORPHA:2719: Cross syndrome
ORPHA:272: Congenital muscular dystrophy, Fukuyama type
ORPHA:272: FCMD
ORPHA:272: FKTN-related congenital muscular dystrophy
ORPHA:272: Fukuyama congenital muscular dystrophy
ORPHA:2720: Oculocerebral hypopigmentation syndrome, Preus type
ORPHA:2721: Odonto-onycho-dermal dysplasia
ORPHA:2721: OODD
ORPHA:2722: Odonto-onycho dysplasia-alopecia syndrome
ORPHA:2723: Odontotrichomelic syndrome
ORPHA:2723: Freire-Maia syndrome
ORPHA:2724: Odontomatosis-aortae esophagus stenosis syndrome
ORPHA:2724: Boder syndrome
ORPHA:2728: Blepharophimosis-intellectual disability syndrome, Ohdo type
ORPHA:2728: BMRS, Ohdo type
ORPHA:2728: Blepharophimosis syndrome, Ohdo type
ORPHA:2728: Ohdo syndrome
ORPHA:2728: Ohdo-Madokoro-Sonoda syndrome
ORPHA:273: Steinert myotonic dystrophy
ORPHA:273: Myotonic dystrophy type 1
ORPHA:273: Steinert disease
ORPHA:2730: Postaxial tetramelic oligodactyly
ORPHA:2732: Olivopontocerebellar atrophy-deafness syndrome
ORPHA:2732: Olivopontocerebellar atrophy-hearing loss syndrome
ORPHA:2733: Omodysplasia
ORPHA:2736: Lethal omphalocele-cleft palate syndrome
ORPHA:2736: Czeizel syndrome
ORPHA:2737: Onchocerciasis
ORPHA:274: Bernard-Soulier syndrome
ORPHA:274: Giant platelet syndrome
ORPHA:274: Hemorrhagiparous thrombocytic dystrophy
ORPHA:2741: Ophthalmomandibulomelic dysplasia
ORPHA:2741: OMM syndrome
ORPHA:2741: Pillay syndrome
ORPHA:2743: Ophthalmoplegia-intellectual disability-lingua scrotalis syndrome
ORPHA:2743: Levic-Stefanovic-Nikolic syndrome
ORPHA:2744: Horizontal gaze palsy with progressive scoliosis
ORPHA:2744: HGPPS
ORPHA:2744: Progressive external ophthalmoplegia and scoliosis
ORPHA:2745: Opitz GBBB syndrome
ORPHA:2745: Hypertelorism-hypospadias syndrome
ORPHA:2745: Hypertelorism-oesophageal abnormality-hypospadias syndrome
ORPHA:2745: Hypospadias-dysphagia syndrome
ORPHA:2745: Opitz BBB/G syndrome
ORPHA:2745: Opitz BBBG syndrome
ORPHA:2745: Opitz G/BBB syndrome
ORPHA:2745: Opitz-Frias syndrome
ORPHA:2746: Opsismodysplasia
ORPHA:2749: Oromandibular-limb hypogenesis syndrome
ORPHA:2749: Oroacral syndrome
ORPHA:275: Severe combined immunodeficiency due to DCLRE1C deficiency
ORPHA:275: SCID due to ARTEMIS deficiency
ORPHA:275: SCID due to DCLRE1C deficiency
ORPHA:275: SCID, Athabascan type
ORPHA:275: SCID, Athabaskan type
ORPHA:275: Severe combined immunodeficiency due to ARTEMIS deficiency
ORPHA:275: Severe combined immunodeficiency, Athabascan type
ORPHA:275: Severe combined immunodeficiency, Athabaskan type
ORPHA:2750: Orofaciodigital syndrome type 1
ORPHA:2750: OFD1
ORPHA:2750: OFDI
ORPHA:2750: OFDSI
ORPHA:2750: Oral-facial-digital syndrome type 1
ORPHA:2750: Papillon-Léage-Psaume syndrome
ORPHA:2751: Orofaciodigital syndrome type 2
ORPHA:2751: Mohr syndrome
ORPHA:2751: OFD2
ORPHA:2751: Oral-facial-digital syndrome type 2
ORPHA:2753: Orofaciodigital syndrome type 4
ORPHA:2753: Baraitser-Burn syndrome
ORPHA:2753: Mohr-Majewski syndrome
ORPHA:2753: OFD4
ORPHA:2753: Oral-facial-digital syndrome type 4
ORPHA:2754: Orofaciodigital syndrome type 6
ORPHA:2754: Joubert syndrome with oral-facial-digital syndrome
ORPHA:2754: Joubert syndrome with orofaciodigital defect
ORPHA:2754: OFD6
ORPHA:2754: Oral-facial-digital syndrome type 6
ORPHA:2754: Polydactyly-cleft lip/palate-psychomotor retardation syndrome
ORPHA:2754: Váradi syndrome
ORPHA:2754: Váradi-Papp syndrome
ORPHA:2755: Orofaciodigital syndrome type 8
ORPHA:2755: OFD8
ORPHA:2755: Oral-facial-digital syndrome type 8
ORPHA:2755: Oral-facial-digital syndrome, Edwards type
ORPHA:2755: Orofaciodigital syndrome, Edwards type
ORPHA:275517: Autoimmune lymphoproliferative syndrome-recurrent viral infections due to CASP8 deficiency
ORPHA:275517: ALPS-recurrent viral infections due to CASP8 deficiency
ORPHA:275517: Autoimmune lymphoproliferative syndrome-recurrent viral infections due to Caspase 8 deficiency
ORPHA:275517: CEDS
ORPHA:275517: Caspase 8 deficiency syndrome
ORPHA:275523: Dianzani autoimmune lymphoproliferative disease
ORPHA:275523: DALD
ORPHA:275543: L1 syndrome
ORPHA:275543: CRASH syndrome
ORPHA:275543: Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome
ORPHA:275543: L1CAM syndrome
ORPHA:275555: Preeclampsia
ORPHA:275729: Rare hemorrhagic disorder due to a constitutional thrombocytopenia
ORPHA:275729: Rare bleeding disorder due to a constitutional thrombocytopenia
ORPHA:275729: Rare bleeding disorder due to a quantitative platelet defect
ORPHA:275729: Rare coagulopathy due to a constitutional thrombocytopenia
ORPHA:275729: Rare coagulopathy due to a quantitative platelet defect
ORPHA:275729: Rare hemorrhagic disorder due to a quantitative platelet defect
ORPHA:275736: Rare hemorrhagic disorder due to a qualitative platelet defect
ORPHA:275736: Rare bleeding disorder due to a constitutional thrombopathy
ORPHA:275736: Rare bleeding disorder due to a qualitative platelet defect
ORPHA:275736: Rare coagulopathy due to a constitutional thrombopathy
ORPHA:275736: Rare coagulopathy due to a qualitative platelet defect
ORPHA:275736: Rare hemorrhagic disorder due to a constitutional thrombopathy
ORPHA:275742: Genetic infertility
ORPHA:275745: Alpha-thalassemia and related disorders
ORPHA:275749: Beta-thalassemia and related diseases
ORPHA:275752: Sickle cell disease and related diseases
ORPHA:275761: Lysosomal acid lipase deficiency
ORPHA:275761: LAL deficiency
ORPHA:275761: LALD
ORPHA:275766: Idiopathic pulmonary arterial hypertension
ORPHA:275766: IPAH
ORPHA:275766: Primary pulmonary arterial hypertension
ORPHA:275777: Heritable pulmonary arterial hypertension
ORPHA:275777: FPAH
ORPHA:275777: Familial pulmonary arterial hypertension
ORPHA:275777: HPAH
ORPHA:275777: Hereditary pulmonary arterial hypertension
ORPHA:275786: Drug- or toxin-induced pulmonary arterial hypertension
ORPHA:275786: Drug- or toxin-induced PAH
ORPHA:275791: Pulmonary arterial hypertension associated with another disease
ORPHA:275791: PAH associated with another disease
ORPHA:275791: Secondary PAH