TaoMedAI/RareMedData huggingface dataset:
ORPHA:431140: X-linked colobomatous microphthalmia-microcephaly-short stature-psychomotor retardation syndrome
ORPHA:431149: Combined immunodeficiency due to OX40 deficiency
ORPHA:431149: Combined immunodeficiency with childhood-onset Kaposi sarcoma
ORPHA:431149: Combined immunodeficiency with impaired immunity to HHV-8
ORPHA:431149: Combined immunodeficiency with impaired immunity to human herpes virus 8
ORPHA:43115: Hereditary myopathy with lactic acidosis due to ISCU deficiency
ORPHA:43115: Aconitase deficiency
ORPHA:43115: ISCU myopathy
ORPHA:43115: Iron-sulfur cluster deficiency myopathy
ORPHA:43115: Myopathy with exercise intolerance, Swedish type
ORPHA:431156: Primary immunodeficiency with predisposition to severe viral infection
ORPHA:43116: Serotonin syndrome
ORPHA:43116: Serotonergic syndrome
ORPHA:43116: Serotonin storm
ORPHA:43116: Serotonin toxicity
ORPHA:43116: Serotonin toxidrome
ORPHA:431166: Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
ORPHA:431166: Primary immunodeficiency with post-MMR vaccine viral infection
ORPHA:43117: Acute tricyclic antidepressant poisoning
ORPHA:43119: Acute poisoning by drugs with membrane-stabilizing effect
ORPHA:431255: Scapuloperoneal spinal muscular atrophy
ORPHA:431255: Neurogenic scapuloperoneal amyotrophy, New England type
ORPHA:431255: SPSMA
ORPHA:431255: Scapuloperoneal neuronopathy
ORPHA:431263: Late-onset scapuloperoneal muscular dystrophy with hyaline bodies
ORPHA:431263: Late-onset SPMD with hyaline bodies
ORPHA:431263: Late-onset scapuloperoneal syndrome, myopathic type
ORPHA:431272: X-linked scapuloperoneal muscular dystrophy
ORPHA:431272: X-linked SPMD
ORPHA:431272: X-linked scapuloperoneal syndrome
ORPHA:431320: Spastic paraplegia-optic atrophy-neuropathy and spastic paraplegia-optic atrophy-neuropathy-related disorder
ORPHA:431320: SPOAN and SPOAN-related disorder
ORPHA:431329: Autosomal recessive spastic paraplegia type 57
ORPHA:431329: SPG57
ORPHA:431329: Spastic paraplegia due to partial TFG deficiency
ORPHA:431341: Patent urachus
ORPHA:431344: Urachal sinus
ORPHA:431347: Urachal diverticulum
ORPHA:431347: Vesicourachal diverticulum
ORPHA:431353: Pulmonary veno-occlusive disease and/or pulmonary capillary haemangiomatosis
ORPHA:431361: Progressive encephalopathy with leukodystrophy due to DECR deficiency
ORPHA:431361: 2,4-dienoyl-CoA reductase deficiency
ORPHA:431361: DECR deficiency with hyperlysinemia
ORPHA:432: Normosmic congenital hypogonadotropic hypogonadism
ORPHA:432: Normosmic idiopathic hypogonadotropic hypogonadism
ORPHA:432: nIHH
ORPHA:43393: Lambert-Eaton myasthenic syndrome
ORPHA:434179: Orofaciodigital syndrome type 14
ORPHA:434179: Microcephaly-cerebral malformation-orofaciodigital syndrome
ORPHA:434179: OFD14
ORPHA:434179: Oral-facial-digital syndrome type 14
ORPHA:434786: Rare genetic autonomic nervous system disorder
ORPHA:434809: Syndrome with woolly hair
ORPHA:435329: Familial ossifying fibroma
ORPHA:435329: Familial Gigantiform cementoma
ORPHA:435329: Multiple ossifying fibroma
ORPHA:435365: Fetal lower urinary tract obstruction
ORPHA:435365: LUTO
ORPHA:435372: Anterior urethral valve
ORPHA:435387: Autosomal dominant Charcot-Marie-Tooth disease type 2Y
ORPHA:435387: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to VCP mutation
ORPHA:435387: CMT2 due to VCP mutation
ORPHA:435387: CMT2Y
ORPHA:435438: Progressive myoclonic epilepsy type 7
ORPHA:435438: EPM7
ORPHA:435438: MEAK
ORPHA:435438: Myoclonus epilepsy and ataxia due to potassium channel mutation
ORPHA:435438: PME type 7
ORPHA:435438: Progressive myoclonic epilepsy due to KV3.1 deficiency
ORPHA:435438: Progressive myoclonus epilepsy type 7
ORPHA:435554: Genetic precocious puberty
ORPHA:435561: Rare precocious puberty in female
ORPHA:435564: Genetic precocious puberty in female
ORPHA:435603: Genetic otorhinolaryngological malformation
ORPHA:435606: Genetic nose and cavum anomaly
ORPHA:435609: Genetic larynx anomaly
ORPHA:435612: Genetic tracheal anomaly
ORPHA:435628: Keppen-Lubinsky syndrome
ORPHA:435628: Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome
ORPHA:435638: 3p25.3 microdeletion syndrome
ORPHA:435638: Del(3)p(25.3)
ORPHA:435638: Intellectual disability-epilepsy-stereotypic hand movement syndrome
ORPHA:435638: Monosomy 3p25.3
ORPHA:435651: CIDEC-related familial partial lipodystrophy
ORPHA:435651: CIDEC-related FPLD
ORPHA:435651: FPLD5
ORPHA:435660: LIPE-related familial partial lipodystrophy
ORPHA:435660: FPLD6
ORPHA:435660: LIPE-related FPLD
ORPHA:435743: Congenital urachal anomaly
ORPHA:435804: Short stature-advanced bone age-early-onset osteoarthritis syndrome
ORPHA:435819: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to TFG mutation
ORPHA:435819: CMT2 due to TFG mutation
ORPHA:435845: Lethal neonatal spasticity-epileptic encephalopathy syndrome
ORPHA:435845: Lethal neonatal rigidity-multifocal seizure syndrome
ORPHA:435930: Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome
ORPHA:435934: COG2-CDG
ORPHA:435934: COG2-related congenital disorder of glycosylation
ORPHA:435938: X-linked microcephaly-growth retardation-prognathism-cryptorchidism syndrome
ORPHA:435953: Progeroid features-hepatocellular carcinoma predisposition syndrome
ORPHA:435953: Ruijs-Aalfs syndrome
ORPHA:435988: Chronic atrial and intestinal dysrhythmia syndrome
ORPHA:435988: CAID syndrome
ORPHA:435988: Chronic atrial dysrhythmia-intestinal motility disorder
ORPHA:435998: Autosomal recessive intermediate Charcot-Marie-Tooth disease type D
ORPHA:435998: RI-CMT type D
ORPHA:436: Hypophosphatasia
ORPHA:436: HPP
ORPHA:436: Phosphoethanolaminuria
ORPHA:436: Rathbun disease
ORPHA:436003: Contractures-developmental delay-Pierre Robin syndrome
ORPHA:436003: 5q23 microdeletion syndrome
ORPHA:436141: HIDEA syndrome
ORPHA:436141: Severe intellectual disability-hypotonia-strabismus-coarse face-planovalgus syndrome
ORPHA:436144: Intrauterine growth restriction-short stature-early adult-onset diabetes syndrome
ORPHA:436159: Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsuffiency
ORPHA:436159: ALPS due to CTLA4 haploinsuffiency
ORPHA:436159: CHAI
ORPHA:436159: CTLA-4 haploinsufficiency with autoimmune infiltration disease
ORPHA:436166: Periodic fever-infantile enterocolitis-autoinflammatory syndrome
ORPHA:436166: NLRC4-related MAS
ORPHA:436166: NLRC4-related autoinflammatory syndrome with MAS
ORPHA:436166: NLRC4-related autoinflammatory syndrome with macrophage activation syndrome
ORPHA:436166: NLRC4-related infantile enterocolitis-autoinflammatory syndrome
ORPHA:436166: NLRC4-related macrophage activation syndrome
ORPHA:436169: Thrombomodulin-related bleeding disorder
ORPHA:436169: THBD-related bleeding disorder
ORPHA:436169: THBD-related coagulopathy
ORPHA:436169: Thrombomodulin-related coagulopathy
ORPHA:436174: Cataract-growth hormone deficiency-sensory neuropathy-sensorineural hearing loss-skeletal dysplasia syndrome
ORPHA:436174: CAGSSS
ORPHA:436182: Microcephalic primordial dwarfism-insulin resistance syndrome
ORPHA:436242: Familial atrial tachyarrhythmia-infra-Hisian cardiac conduction disease
ORPHA:436245: Retinitis pigmentosa-juvenile cataract-short stature-intellectual disability syndrome
ORPHA:436245: Retinal dystrophy-juvenile cataract-short stature syndrome
ORPHA:436252: Combined immunodeficiency-enteropathy spectrum
ORPHA:436252: CID-MIA/early-onset IBD
ORPHA:436271: Non-progressive predominantly posterior cavitating leukoencephalopathy with peripheral neuropathy
ORPHA:436274: Pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
ORPHA:436274: PXE-like syndrome with retinitis pigmentosa
ORPHA:437: Hypophosphatemic rickets
ORPHA:437552: Autosomal recessive primary immunodeficiency with defective spontaneous natural killer cell cytotoxicity
ORPHA:437552: Autosomal recessive primary immunodeficiency with defective spontaneous NK cell cytotoxicity
ORPHA:437552: CD16 deficiency
ORPHA:438072: Disorder of keton body transport
ORPHA:438075: Ketoacidosis due to monocarboxylate transporter-1 deficiency
ORPHA:438114: RARS-related autosomal recessive hypomyelinating leukodystrophy
ORPHA:438117: Steel syndrome
ORPHA:438117: Bilateral hip and radial head dislocations-short stature-scoliosis-carpal coalitions-pes cavus-facial dysmorphism syndrome
ORPHA:438134: PCNA-related progressive neurodegenerative photosensitivity syndrome
ORPHA:438159: STAT3-related early-onset multisystem autoimmune disease
ORPHA:438178: Fatty acyl-CoA reductase 1 deficiency
ORPHA:438178: FAR1 deficiency
ORPHA:438178: PFCRD
ORPHA:438178: Peroxisomal fatty acyl-CoA reductase 1 disorder
ORPHA:438207: Severe autosomal recessive macrothrombocytopenia
ORPHA:438213: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome
ORPHA:438216: PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome due to a point mutation
ORPHA:438266: Progressive encephalomyelitis with rigidity and myoclonus
ORPHA:438266: PERM
ORPHA:438274: GCGR-related hyperglucagonemia
ORPHA:438274: Mahvash disease
ORPHA:438279: Human infection by orthopoxvirus
ORPHA:439: Isolated right ventricular hypoplasia
ORPHA:439167: Placental insufficiency
ORPHA:439167: Uteroplacental vascular insufficiency
ORPHA:439175: Pediatric arterial ischemic stroke
ORPHA:439175: Childhood AIS
ORPHA:439175: Childhood arterial ischemic stroke
ORPHA:439175: Pediatric AIS
ORPHA:439196: Zinc-responsive necrolytic acral erythema
ORPHA:439196: NAE
ORPHA:439196: Necrolytic acral erythema
ORPHA:439202: Non-recovering obstetric brachial plexus lesion
ORPHA:439202: Chronic obstetric brachial plexus injury
ORPHA:439202: Chronic obstetric brachial plexus palsy
ORPHA:439202: Non-recovering OBPI
ORPHA:439202: Non-recovering OBPL
ORPHA:439212: Early-onset myopathy-areflexia-respiratory distress-dysphagia syndrome
ORPHA:439212: EMARDD
ORPHA:439218: KCNQ2-related epileptic encephalopathy
ORPHA:439218: KCNQ2-NEE
ORPHA:439218: KCNQ2-related neonatal epileptic encephalopathy
ORPHA:439224: ALECT2 amyloidosis
ORPHA:439224: Leukocyte chemotactic factor-2 amyloidosis
ORPHA:439232: AApoAIV amyloidosis
ORPHA:439232: Apolipoprotein A-IV amyloidosis
ORPHA:439246: ABeta2M amyloidosis
ORPHA:439246: Beta2-microglobulinic amyloidosis
ORPHA:439254: ITM2B amyloidosis
ORPHA:439254: Familial cerebral amyloid angiopathy
ORPHA:439254: ITM2B-related amyloidosis
ORPHA:439254: ITM2B-related cerebral amyloid angiopathy
ORPHA:439729: Cutaneous polyarteritis nodosa
ORPHA:439729: Cutaneous PAN
ORPHA:439729: Cutaneous periarteritis nodosa
ORPHA:439737: Primary polyarteritis nodosa
ORPHA:439737: Primary PAN
ORPHA:439737: Primary periarteritis nodosa
ORPHA:439746: Secondary polyarteritis nodosa
ORPHA:439746: Secondary PAN
ORPHA:439746: Secondary periarteritis nodosa
ORPHA:439755: Single-organ polyarteritis nodosa
ORPHA:439755: Single-organ PAN
ORPHA:439755: Single-organ periarteritis nodosa
ORPHA:439762: Systemic polyarteritis nodosa
ORPHA:439762: Systemic PAN
ORPHA:439762: Systemic periarteritis nodosa
ORPHA:439822: PDE4D haploinsufficiency syndrome
ORPHA:439849: Autosomal recessive severe congenital neutropenia
ORPHA:439854: Fatal congenital hypertrophic cardiomyopathy due to glycogen storage disease
ORPHA:439854: Fatal congenital hypertrophic cardiomyopathy due to GSD
ORPHA:439854: Fatal congenital hypertrophic cardiomyopathy due to glycogenosis
ORPHA:439881: Plastic bronchitis
ORPHA:439881: Croupous bronchitis
ORPHA:439881: Fibrinous bronchitis
ORPHA:439881: Pseudo-membranous bronchitis
ORPHA:439897: Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome
ORPHA:44: Neonatal adrenoleukodystrophy
ORPHA:44: Intermediate PBD-ZSD
ORPHA:44: Intermediate peroxisome biogenesis disorder-Zellweger spectrum disorder
ORPHA:44: NALD
ORPHA:440221: Congenital oculomotor nerve palsy
ORPHA:440221: Congenital CNIII lesion
ORPHA:440221: Congenital third cranial nerve palsy
ORPHA:440233: Congenital abducens nerve palsy
ORPHA:440233: Benign congenital sixth cranial nerve palsy
ORPHA:440233: Congenital CNVI palsy
ORPHA:440354: Autosomal dominant myopia-midfacial retrusion-sensorineural hearing loss-rhizomelic dysplasia syndrome
ORPHA:440354: Autosomal dominant myopia-midfacial retrusion-sensorineural deafness-rhizomelic dysplasia syndrome
ORPHA:440368: Necrotizing soft tissue infection
ORPHA:440368: NSTI
ORPHA:440392: Interstitial lung disease due to SP-C deficiency
ORPHA:440392: Interstitial lung disease due to surfactant protein C deficiency
ORPHA:440402: Interstitial lung disease due to ABCA3 deficiency
ORPHA:440402: Interstitial lung disease due to ATP-binding cassette subfamily A member 3 deficiency
ORPHA:440427: Severe early-onset pulmonary alveolar proteinosis due to MARS deficiency
ORPHA:440427: Hereditary pulmonary alveolar proteinosis with hepatic involvement
ORPHA:440427: Interstitial lung and liver disease
ORPHA:440427: PAP, Reunion island type
ORPHA:440427: Pulmonary alveolar proteinosis, Reunion island type
ORPHA:440437: Familial colorectal cancer Type X
ORPHA:440437: FCCTX
ORPHA:440701: Disorders of pentose/polyol metabolism
ORPHA:440706: Ribose-5-P isomerase deficiency
ORPHA:440713: Isolated sedoheptulokinase deficiency
ORPHA:440713: Isolated SHPK deficiency
ORPHA:440724: Extensive peripapillary myelinated nerve fibers
ORPHA:440727: Combined hamartoma of the retina and retinal pigment epithelium
ORPHA:440727: CHR-RPE
ORPHA:440727: Combined hamartoma of the retina and RPE
ORPHA:440731: L-ferritin deficiency
ORPHA:440987: Isolated agenesis of gallbladder
ORPHA:441: Pure autonomic failure
ORPHA:441: Bradbury-Eggleston syndrome
ORPHA:441: Idiopathic orthostatic hypotension
ORPHA:441: PAF
ORPHA:441: Pure dysautonomia
ORPHA:441: Pure idiopatic dysautonomia
ORPHA:441434: Syndromic hereditary optic neuropathy
ORPHA:441447: Early-onset posterior subcapsular cataract
ORPHA:441452: Early-onset lamellar cataract
ORPHA:442: Congenital hypothyroidism
ORPHA:442582: AH amyloidosis
ORPHA:442582: Heavy chain amyloidosis
ORPHA:442835: Non-specific early-onset epileptic encephalopathy
ORPHA:442835: Non-specific EOEE
ORPHA:442835: Undetermined EOEE
ORPHA:442835: Undetermined early-onset epileptic encephalopathy
ORPHA:443057: Sporadic porphyria cutanea tarda
ORPHA:443057: Porphyria cutanea tarda type I
ORPHA:443062: Familial porphyria cutanea tarda
ORPHA:443062: Porphyria cutanea tarda type II
ORPHA:443070: Hemicrania continua
ORPHA:443073: Charcot-Marie-Tooth disease type 2S
ORPHA:443073: CMT2S
ORPHA:443079: Central serous chorioretinopathy
ORPHA:443079: CSCR
ORPHA:443084: Baroreflex failure
ORPHA:443087: 46,XY difference of sex development due to testicular 17,20-desmolase deficiency
ORPHA:443087: 46,XY disorder of sex development due to testicular 17,20-desmolase deficiency
ORPHA:443090: 46,XY difference of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
ORPHA:443090: 46,XY disorder of sexual development due to dihydrotestosterone backdoor pathway biosynthesis defect
ORPHA:443095: Hyperinsulinemic hypoglycaemia
ORPHA:443098: Hyperostosis cranialis interna
ORPHA:443101: Hypothalamic adipsic hypernatraemia syndrome
ORPHA:443159: Lymphoplasmacytic lymphoma without IgM production
ORPHA:443159: Lymphoplasmacytic lymphoma without Immunoglobulin M production
ORPHA:443162: NDE1-related microhydranencephaly
ORPHA:443162: MHAC
ORPHA:443167: NUT midline carcinoma
ORPHA:443167: NMC
ORPHA:443173: Postpartum psychosis
ORPHA:443173: Puerperal psychosis
ORPHA:443180: Spontaneous intracranial hypotension
ORPHA:443180: Spontaneous cerebrospinal fluid leak
ORPHA:443192: Classic stiff person syndrome
ORPHA:443192: Classic SMS
ORPHA:443192: Classic SPS
ORPHA:443192: Classic stiff man syndrome
ORPHA:443197: X-linked erythropoietic protoporphyria
ORPHA:443197: X-linked dominant erythropoietic protoporphyria
ORPHA:443197: X-linked dominant protoporphyria
ORPHA:443197: XLDPP
ORPHA:443197: XLPP
ORPHA:443227: Paratyphoid fever
ORPHA:443236: Postural orthostatic tachycardia syndrome due to NET deficiency
ORPHA:443236: Familial orthostatic tachycardia due to norepinephrine transporter deficiency
ORPHA:443236: Orthostatic intolerance due to NET deficiency
ORPHA:443236: POTS due to NET deficiency
ORPHA:443291: HIV-associated cancer
ORPHA:443291: HIV-related cancer
ORPHA:443804: Focal stiff limb syndrome
ORPHA:443804: Focal stiff-person syndrome
ORPHA:443804: Stiff leg syndrome
ORPHA:443811: PGM3-CDG
ORPHA:443811: CID due to PGM3 deficiency
ORPHA:443811: Combined immunodeficiency due to PGM3 deficiency
ORPHA:443811: PGM3-related congenital disorder of glycosylation
ORPHA:443909: Hereditary nonpolyposis colon cancer
ORPHA:443909: Familial nonpolyposis colon cancer
ORPHA:443909: Familial nonpolyposis colorectal cancer
ORPHA:443909: HNPCC
ORPHA:443909: Hereditary nonpolyposis colorectal cancer
ORPHA:443950: DNAJB2-related Charcot-Marie-Tooth disease type 2
ORPHA:443950: DNAJB2-related CMT2
ORPHA:443988: Ventriculomegaly-cystic kidney disease
ORPHA:443988: Congenital nephrosis-cerebral ventriculomegaly syndrome
ORPHA:443988: VMCKD
ORPHA:443995: Mandibulofacial dysostosis with alopecia
ORPHA:443995: MFDA
ORPHA:444: Marie Unna hereditary hypotrichosis
ORPHA:444: Hypotrichosis, Marie Unna type
ORPHA:444: MUHH
ORPHA:444: Marie Unna congenital hypotrichosis
ORPHA:444002: 11q22.2q22.3 microdeletion syndrome
ORPHA:444002: Del(11)(q22.2q22.3)
ORPHA:444002: Monosomy 11q22.2q22.3
ORPHA:444013: Combined oxidative phosphorylation defect type 23
ORPHA:444013: COXPD23
ORPHA:444048: 46,XX ovarian dysgenesis-short stature syndrome
ORPHA:444051: 20q11.2 microdeletion syndrome
ORPHA:444051: Del(20)(q11.2)
ORPHA:444051: Monosomy 20q11
ORPHA:444069: Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome
ORPHA:444072: Cerebellar-facial-dental syndrome
ORPHA:444072: Cerebellofaciodental syndrome
ORPHA:444077: Cognitive impairment-coarse facies-heart defects-obesity-pulmonary involvement-short stature-skeletal dysplasia syndrome
ORPHA:444077: CHOPS syndrome
ORPHA:444092: Autoimmune interstitial lung disease-arthritis syndrome
ORPHA:444092: COPA syndrome
ORPHA:444099: Autosomal dominant spastic paraplegia type 73
ORPHA:444099: SPG73
ORPHA:444116: Hereditary amyloidosis
ORPHA:444138: Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
ORPHA:444138: PLACK syndrome
ORPHA:444316: Idiopathic phalangeal acro-osteolysis
ORPHA:444316: Idiopathic phalangeal acroosteolysis
ORPHA:444458: Combined oxidative phosphorylation defect type 24
ORPHA:444458: COXPD24
ORPHA:444463: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to TPP2 deficiency
ORPHA:444463: Autoimmune hemolytic anemia-autoimmune thrombocytopenia-primary immunodeficiency syndrome due to tripeptidyl-peptidase II
ORPHA:444463: Evans syndrome associated with primary immunodeficiency
ORPHA:444463: TPPII-related immunodeficiency, autoimmunity, and neurodevelopmental delay with impaired glycolysis and lysosomal expansion disease
ORPHA:444463: TRIANGLE disease
ORPHA:444490: Familial chylomicronemia syndrome
ORPHA:444916: Pseudohypoaldosteronism
ORPHA:444941: Caudal regression-sirenomelia spectrum
ORPHA:445018: Combined immunodeficiency due to LRBA deficiency
ORPHA:445018: CID due to LRBA deficiency
ORPHA:445038: 3-methylglutaconic aciduria-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
ORPHA:445038: 3-methylglutaconic aciduria type 7
ORPHA:445038: MGA-neonatal cataract-neurologic involvement-congenital neutropenia syndrome
ORPHA:445038: MGA7
ORPHA:445062: Juvenile-onset diabetes mellitus-central and peripheral neurodegeneration syndrome
ORPHA:445062: Combined cerebellar and peripheral ataxia-deafness-diabetes mellitus syndrome
ORPHA:445062: Combined cerebellar and peripheral ataxia-hearing loss-diabetes mellitus syndrome
ORPHA:445110: Limb-girdle muscular dystrophy due to POMK deficiency
ORPHA:445110: LGMD due to POMK deficiency
ORPHA:445197: Secondary vasculitis
ORPHA:446: Neonatal hemochromatosis
ORPHA:447: Paroxysmal nocturnal hemoglobinuria
ORPHA:447: Marchiafava-Micheli disease
ORPHA:447: PNH
ORPHA:447731: NIK deficiency
ORPHA:447731: Primary immunodeficiency with multifaceted aberrant lymphoid immunity
ORPHA:447737: Combined immunodeficiency due to DOCK2 deficiency
ORPHA:447737: CID due to DOCK2 deficiency
ORPHA:447737: Combined immunodeficiency due to dedicator of cytokinesis 2 protein deficiency
ORPHA:447740: Aggressive periodontitis
ORPHA:447740: AgP
ORPHA:447740: Juvenile periodontitis
ORPHA:447740: Susceptibility to localized juvenile periodontitis
ORPHA:447753: Autosomal dominant spastic paraplegia type 9A
ORPHA:447753: AD-SPG9A
ORPHA:447753: Cataracts-motor neuropathy-short stature-skeletal anomalies syndrome
ORPHA:447753: Spastic paraparesis-amyopathy-cataracts-gastroesophageal reflux syndrome
ORPHA:447757: Autosomal dominant spastic paraplegia type 9B
ORPHA:447757: AD-SPG9B
ORPHA:447760: Autosomal recessive spastic paraplegia type 9B
ORPHA:447760: AR-SPG9B
ORPHA:447764: IgG4-related sclerosing cholangitis
ORPHA:447771: Sclerosing cholangitis
ORPHA:447774: Secondary sclerosing cholangitis
ORPHA:447777: Keratocystic odontogenic tumor
ORPHA:447777: KTOC
ORPHA:447777: Odontogenic keratocystoma
ORPHA:447784: Mitochondrial pyruvate carrier deficiency
ORPHA:447788: Cerebral visual impairment
ORPHA:447788: Cortical visual impairment
ORPHA:447795: Lipoyl transferase 2 deficiency
ORPHA:447874: Biological anomaly without phenotypic characterization
ORPHA:447877: Polymerase proofreading-related adenomatous polyposis
ORPHA:447877: PPAP
ORPHA:447881: Idiopathic dropped head syndrome
ORPHA:447881: Isolated neck extensor myopathy
ORPHA:447893: Hypomyelination-cerebellar atrophy-hypoplasia of the corpus callosum syndrome
ORPHA:447896: Tremor-ataxia-central hypomyelination syndrome
ORPHA:447896: TACH syndrome
ORPHA:447954: Combined oxidative phosphorylation defect type 25
ORPHA:447954: COXPD25
ORPHA:447961: Pigmentation defects-palmoplantar keratoderma-skin carcinoma syndrome
ORPHA:447964: Autosomal dominant Charcot-Marie-Tooth disease type 2V
ORPHA:447964: Autosomal dominant Charcot-Marie-Tooth disease type 2 due to NAGLU mutation
ORPHA:447964: CMT2V
ORPHA:447964: Hereditary adult-onset painful axonal polyneuropathy
ORPHA:447974: Klippel-Feil anomaly-myopathy-facial dysmorphism syndrome
ORPHA:447977: Progressive scapulohumeroperoneal distal myopathy
ORPHA:447980: 19p13.3 microduplication syndrome
ORPHA:447980: Dup(19)(p13.3)
ORPHA:447985: Partial duplication of the short arm of chromosome 19 syndrome
ORPHA:447985: Partial duplication of chromosome 19p
ORPHA:447985: Partial trisomy of chromosome 19p
ORPHA:447985: Partial trisomy of the short arm of chromosome 19
ORPHA:447997: Spastic tetraplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
ORPHA:447997: ASCT1 deficiency
ORPHA:447997: Spastic quadriplegia-thin corpus callosum-progressive postnatal microcephaly syndrome
ORPHA:448: Hemophilia
ORPHA:448010: CAD-CDG
ORPHA:448010: CDG syndrome type Iz
ORPHA:448010: CDG-Iz
ORPHA:448010: CDG1Z
ORPHA:448010: Carbohydrate deficient glycoprotein syndrome type Iz
ORPHA:448010: Congenital disorder of glycosylation type 1z
ORPHA:448237: Zika virus disease
ORPHA:448237: Zika virus infection
ORPHA:448242: Autosomal recessive brachyolmia
ORPHA:448242: Brachyolmia, Hobaek/Toledo type
ORPHA:448251: Progressive autosomal recessive ataxia-deafness syndrome
ORPHA:448251: Lichtenstein-Knorr syndrome
ORPHA:448251: Progressive autosomal recessive ataxia-sensorineural hearing loss syndrome
ORPHA:448251: SCAR19
ORPHA:448264: Isolated focal non-epidermolytic palmoplantar keratoderma
ORPHA:448267: Regressive spondylometaphyseal dysplasia
ORPHA:448270: Ectopia cordis
ORPHA:448426: Genetic primary orthostatic hypotension
ORPHA:44890: Gastrointestinal stromal tumor
ORPHA:44890: GIST
ORPHA:44890: Gastrointestinal stromal sarcoma
ORPHA:449: Hepatoblastoma
ORPHA:449266: Pleural empyema
ORPHA:449280: Scedosporiosis
ORPHA:449285: Snakebite envenomation
ORPHA:449291: Symptomatic form of fragile X syndrome in female carriers
ORPHA:449306: Antibiotic therapy dose selection
ORPHA:449395: IgG4-related kidney disease
ORPHA:449400: IgG4-related aortitis
ORPHA:449427: IgG4-related pachymeningitis
ORPHA:449427: Idiopathic hypertrophic pachymeningitis
ORPHA:449432: IgG4-related submandibular gland disease
ORPHA:449432: Küttner tumor