TaoMedAI/RareMedData huggingface dataset:
ORPHA:275798: Pulmonary arterial hypertension associated with connective tissue disease
ORPHA:275798: PAH associated with connective tissue disease
ORPHA:275803: Pulmonary arterial hypertension associated with congenital heart disease
ORPHA:275803: PAH associated with congenital heart disease
ORPHA:275808: Pulmonary arterial hypertension associated with HIV infection
ORPHA:275808: PAH associated with HIV infaction
ORPHA:275813: Pulmonary arterial hypertension associated with portal hypertension
ORPHA:275813: PAH associated with portal hypertension
ORPHA:275813: POPH
ORPHA:275813: Portopulmonary hypertension
ORPHA:275823: Pulmonary arterial hypertension associated with schistosomiasis
ORPHA:275823: PAH associated with schistosomiasis
ORPHA:275828: Pulmonary arterial hypertension associated with chronic hemolytic anemia
ORPHA:275828: PAH associated with chronic hemolytic anemia
ORPHA:275837: Pulmonary hypertension owing to lung disease and/or hypoxia
ORPHA:275837: PH due to lung disease and/or hypoxia
ORPHA:275837: PH owing to lung disease and/or hypoxia
ORPHA:275837: Pulmonary hypertension due to lung disease and/or hypoxia
ORPHA:275844: Pulmonary hypertension with unclear multifactorial mechanism
ORPHA:275844: PH with unclear multifactorial mechanism
ORPHA:275853: Syndrome with pulmonary hypertension as a major feature
ORPHA:275864: Behavioral variant of frontotemporal dementia
ORPHA:275864: bv-FTD
ORPHA:275872: Frontotemporal dementia with motor neuron disease
ORPHA:275872: FTD-ALS
ORPHA:275872: FTD-MND
ORPHA:275872: Frontotemporal dementia with amyotrophic lateral sclerosis
ORPHA:2759: Imperforate oropharynx-costovertebral anomalies syndrome
ORPHA:2759: Seghers syndrome
ORPHA:275938: Hemolytic disease due to fetomaternal alloimmunization
ORPHA:275938: HDFN
ORPHA:275938: Hemolytic disease of the fetus and newborn
ORPHA:275944: Hemolytic disease of the newborn with Kell alloimmunization
ORPHA:275944: Anti-K HDN
ORPHA:275944: Maternal anti-Kell alloimmunization
ORPHA:276: T-B+ severe combined immunodeficiency due to gamma chain deficiency
ORPHA:276: SCIDX1
ORPHA:276: T-B+ SCID due to gamma chain deficiency
ORPHA:276: T-B+ severe combined immunodeficiency, X-linked
ORPHA:2760: OSLAM syndrome
ORPHA:2760: Osteosarcoma-limb anomalies-erythroid macrocytosis syndrome
ORPHA:276058: Genetic neurodegenerative disease with dementia
ORPHA:276061: Genetic frontotemporal degeneration with dementia
ORPHA:276066: Bile acid CoA ligase deficiency and defective amidation
ORPHA:276142: Rare tumor of salivary glands
ORPHA:276145: Malignant epithelial tumor of salivary glands
ORPHA:276148: Benign epithelial tumor of salivary glands
ORPHA:276152: Multiple endocrine neoplasia type 4
ORPHA:276152: MEN4
ORPHA:276161: Multiple endocrine neoplasia
ORPHA:276161: MEN
ORPHA:276174: Idiopathic recurrent stupor
ORPHA:276183: Spinocerebellar ataxia type 32
ORPHA:276183: Cerebellar ataxia with azoospermia and intellectual disability
ORPHA:276183: SCA32
ORPHA:276193: Spinocerebellar ataxia type 35
ORPHA:276193: SCA35
ORPHA:276198: Spinocerebellar ataxia type 36
ORPHA:276198: Asidan
ORPHA:276198: SCA36
ORPHA:2762: Progressive osseous heteroplasia
ORPHA:2762: Familial ectopic ossification
ORPHA:2762: POH
ORPHA:276212: Mucopolysaccharidosis type 6, rapidly progressing
ORPHA:276212: Arylsulfatase B deficiency, rapidly progressing
ORPHA:276212: MPS6, rapidly progressing
ORPHA:276212: MPSVI, rapidly progressing
ORPHA:276212: Mucopolysaccharidosis type VI, rapidly progressing
ORPHA:276223: Mucopolysaccharidosis type 6, slowly progressing
ORPHA:276223: Arylsulfatase B deficiency, slowly progressing
ORPHA:276223: MPS6, slowly progressing
ORPHA:276223: MPSVI, slowly progressing
ORPHA:276223: Mucopolysaccharidosis type VI, slowly progressing
ORPHA:276234: Non-syndromic male infertility due to sperm motility disorder
ORPHA:276234: Non-syndromic male infertility due asthenozoospermia
ORPHA:276238: Machado-Joseph disease type 1
ORPHA:276238: SCA3, Joseph type
ORPHA:276238: Spinocerebellar ataxia type 3, Joseph type
ORPHA:276241: Machado-Joseph disease type 2
ORPHA:276241: SCA3, Thomas type
ORPHA:276241: Spinocerebellar ataxia, Thomas type
ORPHA:276244: Machado-Joseph disease type 3
ORPHA:276244: SCA3, Machado type
ORPHA:276244: Spinocerebellar ataxia type 3, Machado type
ORPHA:276280: Hemihyperplasia-multiple lipomatosis syndrome
ORPHA:276280: HHML
ORPHA:2763: Osteocraniostenosis
ORPHA:2763: Gracile bone dysplasia
ORPHA:2763: Osteocraniosplenic syndrome
ORPHA:276399: Familial multinodular goiter
ORPHA:276399: FMNG
ORPHA:276399: Familial MNG
ORPHA:276399: Familial multinodular goiter syndrome
ORPHA:2764: Osteochondritis dissecans
ORPHA:2764: König disease
ORPHA:276405: Hyperbiliverdinemia
ORPHA:276405: Green jaundice
ORPHA:276413: 10q22.3q23.3 microdeletion syndrome
ORPHA:276413: Del(10)(q22.3q23.3)
ORPHA:276413: Deletion 10q22.3q23.3
ORPHA:276413: Monosomy 10q22.3q23.3
ORPHA:276422: 10q22.3q23.3 microduplication syndrome
ORPHA:276422: Dup(10)(q22.3q23.3)
ORPHA:276422: Trisomy 10q22.3q23.3
ORPHA:276429: Hypnic headache
ORPHA:276432: Ogden syndrome
ORPHA:276432: Premature aging appearance-developmental delay-cardiac arrhythmia syndrome
ORPHA:276435: Lower motor neuron syndrome with late-adult onset
ORPHA:276435: LOSMoN
ORPHA:276435: Late-onset spinal motor neuronopathy
ORPHA:276435: SMAJ
ORPHA:276435: Spinal muscular atrophy, Jokela type
ORPHA:276525: Familial hyperinsulinism
ORPHA:276525: FHI
ORPHA:276525: Familial hyperinsulinemic hypoglycemia
ORPHA:276556: Hyperinsulinism due to UCP2 deficiency
ORPHA:276556: Hyperinsulinemic hypoglycemia due to UCP2 deficiency
ORPHA:276575: Autosomal dominant hyperinsulinism due to SUR1 deficiency
ORPHA:276575: Autosomal dominant hyperinsulinemic hypoglycemia due to SUR1 deficiency
ORPHA:276580: Autosomal dominant hyperinsulinism due to Kir6.2 deficiency
ORPHA:276580: Autosomal dominant hyperinsulinemic hypoglycemia due to Kir6.2 deficiency
ORPHA:276580: Dominant KATP hyperinsulinism due to Kir6.2 deficiency
ORPHA:276585: Diazoxide-resistant hyperinsulinism
ORPHA:276585: Diazoxide-resistant hyperinsulinemic hypoglycemia
ORPHA:276598: Diazoxide-resistant focal hyperinsulinism due to SUR1 deficiency
ORPHA:276598: Hyperinsulinemic hypoglycemia due to SUR1 deficiency, diazoxide-resistant focal form
ORPHA:276603: Diazoxide-resistant focal hyperinsulinism due to Kir6.2 deficiency
ORPHA:276603: Hyperinsulinemic hypoglycemia due to Kir6.2 deficiency, diazoxide-resistant focal form
ORPHA:276608: Non-insulinoma pancreatogenous hypoglycemia syndrome
ORPHA:276608: NIPHS
ORPHA:276621: Sporadic pheochromocytoma/secreting paraganglioma
ORPHA:276630: Symptomatic form of Coffin-Lowry syndrome in female carriers
ORPHA:2767: Carpotarsal osteochondromatosis
ORPHA:2767: Maroteaux-Le Merrer-Bensahel syndrome
ORPHA:2768: Blount disease
ORPHA:2768: Infantile tibia vara
ORPHA:2768: Osteochondrosis deformans tibiae
ORPHA:2768: Tibia vara Blount
ORPHA:2769: Familial osteodysplasia, Anderson type
ORPHA:277: Severe combined immunodeficiency due to adenosine deaminase deficiency
ORPHA:277: ADA deficiency
ORPHA:277: SCID due to adenosine deaminase deficiency
ORPHA:2770: Nasu-Hakola disease
ORPHA:2770: NHD
ORPHA:2770: PLO-SL
ORPHA:2770: PLOSL
ORPHA:2770: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
ORPHA:2771: Bruck syndrome
ORPHA:2771: Osteogenesis imperfecta-congenital joint contractures syndrome
ORPHA:2772: Congenital osteogenesis imperfecta-microcephaly-cataracts syndrome
ORPHA:2773: Osteogenesis imperfecta-retinopathy-seizures-intellectual disability syndrome
ORPHA:2773: Al Gazali-Nair syndrome
ORPHA:2774: Multicentric carpo-tarsal osteolysis with or without nephropathy
ORPHA:2774: Idiopathic multicentric osteolysis with or without nephropathy
ORPHA:2776: Autosomal recessive distal osteolysis syndrome
ORPHA:2776: Distal osteolysis-short stature-intellectual disability syndrome
ORPHA:2776: Petit-Fryns syndrome
ORPHA:2777: Osteomesopyknosis
ORPHA:2777: Axial osteosclerosis
ORPHA:2777: Osteomesopycnosis
ORPHA:2779: Osteopathia striata-pigmentary dermopathy-white forelock syndrome
ORPHA:2779: Whyte-Murphy syndrome
ORPHA:2780: Osteopathia striata-cranial sclerosis syndrome
ORPHA:2780: Hyperostosis generalisata with striations
ORPHA:2780: Robinow-Unger syndrome
ORPHA:2781: Osteopetrosis and related disorders
ORPHA:2783: Autosomal dominant osteopetrosis type 1
ORPHA:2785: Osteopetrosis with renal tubular acidosis
ORPHA:2785: Carbonic anhydrase 2 deficiency
ORPHA:2785: Guibaud-Vainsel syndrome
ORPHA:2785: Marble brain disease
ORPHA:2785: Mixed RTA
ORPHA:2785: Mixed renal tubular acidosis
ORPHA:2785: Renal tubular acidosis type 3
ORPHA:2786: Osteoporosis-oculocutaneous hypopigmentation syndrome
ORPHA:2786: Hernández-Fragoso syndrome
ORPHA:2786: OOCHS
ORPHA:2788: Osteoporosis-pseudoglioma syndrome
ORPHA:2788: OPPG
ORPHA:2788: Ocular form of osteogenesis imperfecta
ORPHA:2789: Lateral meningocele syndrome
ORPHA:2789: Lehman syndrome
ORPHA:2790: Endosteal hyperostosis, Worth type
ORPHA:2790: Autosomal dominant osteosclerosis, Worth type
ORPHA:2790: Worth syndrome
ORPHA:2791: Otodental syndrome
ORPHA:2791: Globodontia
ORPHA:2791: Otodental dysplasia
ORPHA:2792: Otofaciocervical syndrome
ORPHA:2792: Fara-Chlupackova syndrome
ORPHA:2792: OFC syndrome
ORPHA:2793: Otoonychoperoneal syndrome
ORPHA:2795: Fowler urethral sphincter dysfunction syndrome
ORPHA:2795: Fowler syndrome
ORPHA:2795: Fowler-Christmas-Chapple syndrome
ORPHA:2796: Pachydermoperiostosis
ORPHA:2796: PDP
ORPHA:2796: Touraine-Solente-Gole syndrome
ORPHA:2798: Pachygyria-intellectual disability-epilepsy syndrome
ORPHA:2798: Kuzniecky syndrome
ORPHA:279882: Spasmus nutans
ORPHA:279888: Acute endophthalmitis
ORPHA:279891: Chronic endophthalmitis
ORPHA:279894: Toxic maculopathy due to antimalarial drugs
ORPHA:279897: Primary oculocerebral lymphoma
ORPHA:279897: Primary oculocerebral non-Hodgkin lymphoma
ORPHA:279904: Primary intraocular lymphoma
ORPHA:279904: PIOL
ORPHA:279904: Primary intraocular non-Hodgkin lymphoma
ORPHA:279911: Primary organ-specific lymphoma
ORPHA:279914: Intermediate uveitis
ORPHA:279914: IU
ORPHA:279919: Infectious posterior uveitis
ORPHA:279922: Infectious anterior uveitis
ORPHA:279925: Infectious panuveitis
ORPHA:279928: Paraneoplastic uveitis
ORPHA:279934: Mitochondrial DNA depletion syndrome, hepatocerebral form due to DGUOK deficiency
ORPHA:279943: Hereditary neutrophilia
ORPHA:279947: Postorgasmic illness syndrome
ORPHA:279947: POIS
ORPHA:28: Vitamin B12-responsive methylmalonic acidemia
ORPHA:28: Adenosylcobalamin deficiency
ORPHA:28: Vitamin B12-responsive methylmalonic aciduria
ORPHA:280: Wolf-Hirschhorn syndrome
ORPHA:280: 4p- syndrome
ORPHA:280: Distal deletion 4p
ORPHA:280: Distal monosomy 4p
ORPHA:280: Telomeric deletion 4p
ORPHA:2800: Extramammary Paget disease
ORPHA:280062: Calciphylaxis
ORPHA:280065: Calciphylaxis cutis
ORPHA:280068: Visceral calciphylaxis
ORPHA:280071: ALG11-CDG
ORPHA:280071: CDG syndrome type Ip
ORPHA:280071: CDG-Ip
ORPHA:280071: CDG1P
ORPHA:280071: Carbohydrate deficient glycoprotein syndrome type Ip
ORPHA:280071: Congenital disorder of glycosylation type 1p
ORPHA:280071: Congenital disorder of glycosylation type Ip
ORPHA:2801: Juvenile Paget disease
ORPHA:2801: Familial osteoectasia
ORPHA:2801: Hereditary hyperphosphatasia
ORPHA:2801: Hyperostosis corticalis deformans juvenilis
ORPHA:2801: JPG
ORPHA:280133: Complement component 3 deficiency
ORPHA:280133: C3 deficiency
ORPHA:280142: Severe combined immunodeficiency due to LCK deficiency
ORPHA:280142: SCID due to LCK deficiency
ORPHA:280142: SCID due to lymphocyte-specific protein tyrosine kinase deficiency
ORPHA:280142: Severe combined immunodeficiency due to lymphocyte-specific protein tyrosine kinase deficiency
ORPHA:280183: Methylmalonic aciduria due to transcobalamin receptor defect
ORPHA:280183: Methylmalonic acidemia, TCb1R type
ORPHA:280183: Methylmalonic acidemia, TCbIR type
ORPHA:280195: Septopreoptic holoprosencephaly
ORPHA:280195: Septopreoptic HPE
ORPHA:2802: X-linked sideroblastic anemia and spinocerebellar ataxia
ORPHA:2802: Pagon-Bird-Detter syndrome
ORPHA:2802: X-linked sideroblastic anemia with ataxia
ORPHA:2802: XLSA-A
ORPHA:280200: Microform holoprosencephaly
ORPHA:280200: HPE, minor form
ORPHA:280200: HPE-L
ORPHA:280200: Holoprosencephaly, minor form
ORPHA:280200: Holoprosencephaly-like
ORPHA:280200: Microform HPE
ORPHA:280205: Laryngotracheoesophageal cleft type 0
ORPHA:280205: LTEC0
ORPHA:280205: Laryngo-tracheo-esophageal cleft type 0
ORPHA:280210: Pelizaeus-Merzbacher disease, connatal form
ORPHA:280210: Connatal PMD
ORPHA:280210: Pelizaeus-Merzbacher disease type II
ORPHA:280210: Severe PMD
ORPHA:280219: Pelizaeus-Merzbacher disease, classic form
ORPHA:280219: Classic PMD
ORPHA:280224: Pelizaeus-Merzbacher disease, transitional form
ORPHA:280224: Transitional PMD
ORPHA:280229: Pelizaeus-Merzbacher disease in female carriers
ORPHA:280234: Null syndrome
ORPHA:280234: PLP1 null syndrome
ORPHA:280234: Pelizaeus-Merzbacher disease, null syndrome
ORPHA:280270: Pelizaeus-Merzbacher-like disease
ORPHA:280270: PMLD
ORPHA:280282: Pelizaeus-Merzbacher-like disease due to GJC2 mutation
ORPHA:280282: PMLD1
ORPHA:280288: Pelizaeus-Merzbacher-like disease due to HSPD1 mutation
ORPHA:280288: Mitochondrial HSP60 chaperonopathy
ORPHA:280293: Pelizaeus-Merzbacher-like disease due to AIMP1 mutation
ORPHA:280302: Autoimmune pancreatitis type 1
ORPHA:280302: AIP type 1
ORPHA:280302: IgG4-related pancreatitis
ORPHA:280302: Lymphoplasmacytic sclerosing pancreatitis
ORPHA:280315: Autoimmune pancreatitis type 2
ORPHA:280315: AIP type 2
ORPHA:280315: Duct-centric pancreatitis
ORPHA:280325: Distal deletion 12p syndrome
ORPHA:280325: 12p13.33 microdeletion syndrome
ORPHA:280325: Del(12)(p13.33)
ORPHA:280325: Distal monosomy 12p
ORPHA:280333: Alpha-dystroglycan-related limb-girdle muscular dystrophy R16
ORPHA:280333: Alpha-dystroglycan-related LGMD R16
ORPHA:280333: Autosomal recessive limb-girdle muscular dystrophy type 2P
ORPHA:280333: LGMD type 2P
ORPHA:280333: LGMD2P
ORPHA:280333: Limb-girdle muscular dystrophy type 2P
ORPHA:280342: Rare systemic or rheumatological disease of childhood
ORPHA:280356: PLIN1-related familial partial lipodystrophy
ORPHA:280356: FPLD4
ORPHA:280356: PLIN1-related FPLD
ORPHA:280365: Autosomal semi-dominant severe lipodystrophic laminopathy
ORPHA:280369: Rare pediatric vasculitis
ORPHA:280373: Rare pediatric systemic disease
ORPHA:280379: Erythropoietic uroporphyria associated with myeloid malignancy
ORPHA:280384: Recessive intellectual disability-motor dysfunction-multiple joint contractures syndrome
ORPHA:280384: IDMDC
ORPHA:280397: Familial Alzheimer-like prion disease
ORPHA:2804: W syndrome
ORPHA:2804: Pallister-W syndrome
ORPHA:280400: Inherited human prion disease
ORPHA:280400: Familial prion disease
ORPHA:280400: Genetic human prion disease
ORPHA:280403: Familial omphalocele syndrome with facial dysmorphism
ORPHA:280406: Familial steroid-resistant nephrotic syndrome with sensorineural deafness
ORPHA:280406: Familial steroid-resistant nephrotic syndrome with sensorineural hearing loss
ORPHA:2805: Partial pancreatic agenesis
ORPHA:2805: Congenital pancreatic agenesis
ORPHA:2805: Partial agenesis of the pancreas
ORPHA:280553: Fatal infantile hypertonic myofibrillar myopathy
ORPHA:280558: Warsaw breakage syndrome
ORPHA:280558: WABS
ORPHA:280576: Nestor-Guillermo progeria syndrome
ORPHA:280576: NGPS
ORPHA:280586: Chondrodysplasia with joint dislocations, gPAPP type
ORPHA:280586: gPAPP deficiency
ORPHA:280598: Hereditary sensorimotor neuropathy with hyperelastic skin
ORPHA:2806: Subacute sclerosing leukoencephalitis
ORPHA:2806: Dawson encephalitis
ORPHA:2806: SSPE
ORPHA:2806: Subacute inclusion body encephalitis
ORPHA:2806: Subacute sclerosing panencephalitis
ORPHA:2806: Van Bogaert disease
ORPHA:2806: Van Bogaert encephalitis
ORPHA:280615: Hemoglobinopathy Toms River
ORPHA:280615: Transient neonatal cyanosis and anemia due to Toms River Hemoglobin
ORPHA:280620: Progressive myoclonic epilepsy type 6
ORPHA:280620: EPM6
ORPHA:280620: GOSR2-related progressive myoclonus ataxia
ORPHA:280620: North Sea progressive myoclonus epilepsy
ORPHA:280620: PME type 6
ORPHA:280620: Progressive myoclonus epilepsy type 6
ORPHA:280628: Familial progressive hyper- and hypopigmentation
ORPHA:280628: FPHH
ORPHA:280633: Multiple congenital anomalies-hypotonia-seizures syndrome
ORPHA:280633: Congenital disorder of glycosylation due to PIGN deficiency
ORPHA:280633: PIGN-CDG
ORPHA:280640: Occipital pachygyria and polymicrogyria
ORPHA:280640: Occipital MCD
ORPHA:280640: Occipital malformations of cortical development
ORPHA:280654: Autosomal recessive nail dysplasia
ORPHA:280671: Megaconial congenital muscular dystrophy
ORPHA:280671: Congenital megaconial myopathy
ORPHA:280671: Congenital muscular dystrophy due to phosphatidylcholine biosynthesis defect
ORPHA:280671: Congenital muscular dystrophy with mitochondrial structural abnormalities
ORPHA:280679: Moyamoya angiopathy-short stature-facial dysmorphism-hypergonadotropic hypogonadism syndrome
ORPHA:280679: Moyamoya disease-short stature-facial dysmorphism-hypergonadotropic hypogonadism
ORPHA:2807: Papilloma of choroid plexus
ORPHA:2807: CPP
ORPHA:2807: Choroid plexus papilloma
ORPHA:280763: Severe intellectual disability and progressive spastic paraplegia
ORPHA:280763: AP4 deficiency syndrome
ORPHA:280774: Generalized essential telangiectasia
ORPHA:280774: GET
ORPHA:280779: Cutaneous collagenous vasculopathy
ORPHA:280779: CCV
ORPHA:280785: Bullous diffuse cutaneous mastocytosis
ORPHA:280785: Bullous DCM
ORPHA:280794: Pseudoxanthomatous diffuse cutaneous mastocytosis
ORPHA:280794: Infiltrative small vesicular DCM
ORPHA:280794: Infiltrative small vesicular diffuse cutaneous mastocytosis
ORPHA:280794: Pseudoxanthomatous DCM
ORPHA:2808: Laryngeal abductor paralysis
ORPHA:2808: Familial vocal cord dysfunction
ORPHA:2808: Gerhardt syndrome
ORPHA:280802: Intralobar congenital pulmonary sequestration
ORPHA:280802: Congenital intrapulmonary sequestration
ORPHA:280802: Intralobar congenital bronchopulmonary sequestration
ORPHA:280811: Extralobar congenital pulmonary sequestration
ORPHA:280811: Congenital extrapulmonary sequestration
ORPHA:280811: Extralobar congenital bronchopulmonary sequestration
ORPHA:280821: Communicating congenital bronchopulmonary-foregut malformation
ORPHA:280827: Congenital pulmonary airway malformation type 0
ORPHA:280827: CPAM type 0
ORPHA:280827: Congenital cystic adenomatoid malformation of the lung type 0
ORPHA:280827: Congenital cystic adenomatous malformation of the lung type 0
ORPHA:280832: Congenital pulmonary airway malformation type 1
ORPHA:280832: CCAM type 1
ORPHA:280832: CPAM type 1
ORPHA:280832: Congenital cystic adenomatoid malformation of the lung type 1
ORPHA:280832: Congenital cystic adenomatous malformation of the lung type 1
ORPHA:280832: Congenital cystic disease of the lung type 1
ORPHA:280840: Congenital pulmonary airway malformation type 2
ORPHA:280840: CCAM type 2
ORPHA:280840: CPAM type 2
ORPHA:280840: Congenital cystic adenomatoid malformation of the lung type 2
ORPHA:280840: Congenital cystic adenomatous malformation of the lung type 2
ORPHA:280840: Congenital cystic disease of the lung type 2
ORPHA:280847: Congenital pulmonary airway malformation type 3
ORPHA:280847: CCAM type 3
ORPHA:280847: CPAM type 3
ORPHA:280847: Congenital cystic adenomatoid malformation of the lung type 3
ORPHA:280847: Congenital cystic adenomatous malformation of the lung type 3
ORPHA:280847: Congenital cystic disease of the lung type 3
ORPHA:280854: Congenital pulmonary airway malformation type 4
ORPHA:280854: CPAM type 4
ORPHA:280854: Congenital cystic adenomatoid malformation of the lung type 4
ORPHA:280854: Congenital cystic adenomatous malformation of the lung type 4
ORPHA:280886: Anterior uveitis
ORPHA:280886: Iridocyclitis
ORPHA:280892: Posterior uveitis
ORPHA:280892: Choroiditis
ORPHA:280898: Panuveitis
ORPHA:280898: Total uveitis
ORPHA:2809: Familial recurrent peripheral facial palsy
ORPHA:2809: Familial recurrent Bell palsy
ORPHA:280914: Isolated idiopathic anterior uveitis
ORPHA:280914: Isolated IAU
ORPHA:280917: Idiopathic posterior uveitis
ORPHA:280921: Idiopathic panuveitis
ORPHA:280926: Systemic diseases with anterior uveitis
ORPHA:280930: Systemic diseases with posterior uveitis
ORPHA:280933: Systemic diseases with panuveitis
ORPHA:281: Monosomy 5p syndrome
ORPHA:281: Cri du chat syndrome
ORPHA:281: Deletion 5p
ORPHA:281082: Inherited non-syndromic ichthyosis
ORPHA:281085: Inherited ichthyosis syndromic form
ORPHA:281090: Syndromic recessive X-linked ichthyosis
ORPHA:281090: Recessive X-linked ichthyosis with extracutaneous manifestations
ORPHA:281090: Syndromic RXLI
ORPHA:281097: Autosomal recessive congenital ichthyosis
ORPHA:281097: ARCI
ORPHA:281103: Keratinopathic ichthyosis
ORPHA:281103: KPI
ORPHA:281122: Self-improving collodion baby
ORPHA:281122: SHCB
ORPHA:281122: SICI
ORPHA:281122: Self-healing collodion baby
ORPHA:281122: Self-improving congenital ichthyosis
ORPHA:281127: Acral self-healing collodion baby
ORPHA:281127: Acral SHCB
ORPHA:281139: Annular epidermolytic ichthyosis
ORPHA:281139: AEI
ORPHA:281190: Congenital reticular ichthyosiform erythroderma
ORPHA:281190: CRIE
ORPHA:281190: IWC
ORPHA:281190: Ichthyosis variegata
ORPHA:281190: Ichthyosis with confetti
ORPHA:2812: Parana hard skin syndrome
ORPHA:2812: Hard skin syndrome, Parana type
ORPHA:281201: Keratosis linearis-ichthyosis congenita-sclerosing keratoderma syndrome
ORPHA:281201: KLICK syndrome
ORPHA:281210: X-linked ichthyosis syndrome
ORPHA:281217: Autosomal ichthyosis syndrome
ORPHA:281222: Autosomal ichthyosis syndrome with prominent hair abnormalities
ORPHA:281238: Autosomal ichthyosis syndrome with prominent neurologic signs
ORPHA:281241: Autosomal ichthyosis syndrome with fatal disease course
ORPHA:281244: Autosomal ichthyosis syndrome with other associated signs
ORPHA:2815: Spastic paraparesis-deafness syndrome
ORPHA:2815: Spastic paraparesis-hearing loss syndrome
ORPHA:2815: Wells-Jankovic syndrome
ORPHA:2818: Spastic paraplegia-glaucoma-intellectual disability syndrome
ORPHA:2819: Spastic paraplegia-facial-cutaneous lesions syndrome
ORPHA:2819: Bahemuka-Brown syndrome
ORPHA:282: Frontotemporal dementia
ORPHA:282: FTD
ORPHA:2820: Spastic paraplegia-nephritis-deafness syndrome
ORPHA:2820: Fitzsimmons-Walson-Mellor syndrome
ORPHA:2820: Spastic paraplegia-nephritis-hearing loss syndrome
ORPHA:2821: Spastic paraplegia-neuropathy-poikiloderma syndrome
ORPHA:2821: Antinolo-Nieto-Borrego syndrome
ORPHA:282124: Partial deletion of chromosome 12 syndrome
ORPHA:282124: Partial monosomy of chromosome 12
ORPHA:282166: Inherited Creutzfeldt-Jakob disease
ORPHA:282166: Inherited CJD
ORPHA:282196: Autoimmune polyendocrinopathy
ORPHA:282196: APS
ORPHA:282196: Autoimmune polyglandular syndrome
ORPHA:2822: Autosomal recessive spastic paraplegia type 11
ORPHA:2822: Nakamura-Osame syndrome
ORPHA:2822: SPG11
ORPHA:2822: Spastic paraplegia-intellectual disability-thin corpus callosum syndrome
ORPHA:2824: Paraplegia-intellectual disability-hyperkeratosis syndrome
ORPHA:2824: Fitzsimmons-McLachlan-Gilbert syndrome
ORPHA:2825: PARC syndrome
ORPHA:2825: Poikiloderma-alopecia-retrognathism-cleft palate syndrome
ORPHA:2826: Spastic paraplegia-precocious puberty syndrome
ORPHA:2828: Young-onset Parkinson disease
ORPHA:2828: Early-onset Parkinson disease
ORPHA:2828: YOPD
ORPHA:283: Demodicidosis
ORPHA:283: Demodicosis
ORPHA:2831: Rhizomelic dysplasia, Patterson-Lowry type
ORPHA:2832: Short tarsus-absence of lower eyelashes syndrome
ORPHA:2832: Lopes-Gorlin syndrome
ORPHA:2833: Stiff skin syndrome
ORPHA:2834: Wrinkly skin syndrome
ORPHA:2834: WSS
ORPHA:2834: Wrinkled skin syndrome
ORPHA:2835: Pectus excavatum-macrocephaly-dysplastic nails syndrome
ORPHA:2835: Zori-Stalker-Williams syndrome
ORPHA:2836: PEHO syndrome
ORPHA:2836: Progressive encephalopathy with edema, hypsarrhythmia and optic atrophy
ORPHA:28378: Tyrosinemia type 2
ORPHA:28378: Keratosis palmoplantaris-corneal dystrophy syndrome
ORPHA:28378: Oculocutaneous tyrosinemia
ORPHA:28378: Richner-Hanhart syndrome
ORPHA:28378: Tyrosinemia due to TAT deficiency
ORPHA:28378: Tyrosinemia due to tyrosine aminotransferase deficiency
ORPHA:28378: Tyrosinemia type II
ORPHA:2838: Renal caliceal diverticuli-deafness syndrome
ORPHA:2838: Renal caliceal diverticuli-hearing loss syndrome