TaoMedAI/RareMedData huggingface dataset:
Phenotype: Pigment deposition in the trabecular meshwork (HP:0012631)
Associated genes and diseases:
gene_symbol: LOXL1
disease_id: OMIM:177650
disease_name: EXFOLIATION SYNDROME
Phenotype: Iris hypoperfusion (HP:0012635)
Associated genes and diseases:
gene_symbol: LOXL1
disease_id: OMIM:177650
disease_name: EXFOLIATION SYNDROME
Phenotype: Retinal vein occlusion (HP:0012636)
Associated genes and diseases:
gene_symbol: F12
disease_id: ORPHA:330
disease_name: Congenital factor XII deficiency
Congenital Hageman factor deficiency
gene_symbol: LOXL1
disease_id: OMIM:177650
disease_name: EXFOLIATION SYNDROME
gene_symbol: SERPINC1
disease_id: ORPHA:82
disease_name: Hereditary thrombophilia due to congenital antithrombin deficiency
Hereditary thrombophilia due to congenital antithrombin 3 deficiency
gene_symbol: EFEMP1
disease_id: ORPHA:98977
disease_name: Juvenile glaucoma
gene_symbol: CYP1B1
disease_id: ORPHA:98977
disease_name: Juvenile glaucoma
gene_symbol: MYOC
disease_id: ORPHA:98977
disease_name: Juvenile glaucoma
gene_symbol: ADA2
disease_id: ORPHA:820
disease_name: Sneddon syndrome
Ehrmann-Sneddon syndrome
Livedo racemosa-cerebrovascular accident syndrome
Livedo reticularis-cerebrovascular accident syndrome
Phenotype: Renal calcium wasting (HP:0012637)
Associated genes and diseases:
gene_symbol: CLDN19
disease_id: OMIM:248190
disease_name: HYPOMAGNESEMIA 5, RENAL, WITH OR WITHOUT OCULAR INVOLVEMENT
gene_symbol: CLDN16
disease_id: OMIM:248250
disease_name: HYPOMAGNESEMIA 3, RENAL
gene_symbol: ADCY10
disease_id: ORPHA:2197
disease_name: Idiopathic hypercalciuria
Phenotype: Asymmetric blood pressure between limbs (HP:0025749)
Associated genes and diseases:
gene_symbol: IL12B
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: HLA-B
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
gene_symbol: MLX
disease_id: ORPHA:3287
disease_name: Takayasu arteritis
Phenotype: Tongue spasticity (HP:0025747)
Associated genes and diseases:
gene_symbol: ALS2
disease_id: OMIM:606353
disease_name: PRIMARY LATERAL SCLEROSIS, JUVENILE
Phenotype: Reduced anterior scleral thickness (HP:0025751)
Associated genes and diseases:
gene_symbol: CYP1B1
disease_id: ORPHA:98976
disease_name: Congenital glaucoma
Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma
gene_symbol: LTBP2
disease_id: ORPHA:98976
disease_name: Congenital glaucoma
Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma
gene_symbol: MYOC
disease_id: ORPHA:98976
disease_name: Congenital glaucoma
Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma
gene_symbol: TEK
disease_id: ORPHA:98976
disease_name: Congenital glaucoma
Buphthalmia
Buphthalmos
Buphthalmus
Primary congenital glaucoma
Phenotype: Complete duplication of thumb phalanx (HP:0009943)
Associated genes and diseases:
gene_symbol: GDF5
disease_id: ORPHA:93384
disease_name: Brachydactyly type C
gene_symbol: BMPR1B
disease_id: ORPHA:93384
disease_name: Brachydactyly type C
gene_symbol: RAB23
disease_id: OMIM:201000
disease_name: CARPENTER SYNDROME 1
gene_symbol: CHSY1
disease_id: ORPHA:363417
disease_name: Temtamy preaxial brachydactyly syndrome
gene_symbol: FANCD2
disease_id: OMIM:227646
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP D2
gene_symbol: FANCC
disease_id: OMIM:227645
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP C
gene_symbol: FANCC
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCE
disease_id: OMIM:600901
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP E
gene_symbol: FANCE
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: ESCO2
disease_id: ORPHA:3103
disease_name: Roberts syndrome
Pseudothalidomide syndrome
Roberts-SC phocomelia syndrome
SC phocomelia
SC pseudothalidomide syndrome
gene_symbol: SHMT2
disease_id: OMIM:619121
disease_name: NEURODEVELOPMENTAL DISORDER WITH CARDIOMYOPATHY, SPASTICITY, AND BRAIN ABNORMALITIES
gene_symbol: NAA10
disease_id: ORPHA:568
disease_name: Microphthalmia, Lenz type
Lenz microphthalmia
gene_symbol: BCOR
disease_id: ORPHA:568
disease_name: Microphthalmia, Lenz type
Lenz microphthalmia
gene_symbol: FANCF
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCG
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCA
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
gene_symbol: FANCB
disease_id: OMIM:227650
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP A
Phenotype: Cerebellar agenesis (HP:0012642)
Associated genes and diseases:
gene_symbol: WDR81
disease_id: OMIM:617967
disease_name: HYDROCEPHALUS, CONGENITAL, 3, WITH BRAIN ANOMALIES
gene_symbol: EN1
disease_id: OMIM:619218
disease_name: ENDOVE SYNDROME, LIMB-BRAIN TYPE
gene_symbol: PTF1A
disease_id: OMIM:609069
disease_name: PANCREATIC AND CEREBELLAR AGENESIS
Phenotype: Foveal hypopigmentation (HP:0012643)
Associated genes and diseases:
gene_symbol: APOE
disease_id: OMIM:603075
disease_name: MACULAR DEGENERATION, AGE-RELATED, 1
gene_symbol: CFHR3
disease_id: OMIM:603075
disease_name: MACULAR DEGENERATION, AGE-RELATED, 1
gene_symbol: HMCN1
disease_id: OMIM:603075
disease_name: MACULAR DEGENERATION, AGE-RELATED, 1
gene_symbol: CFHR1
disease_id: OMIM:603075
disease_name: MACULAR DEGENERATION, AGE-RELATED, 1
Phenotype: Enlarged peripheral nerve (HP:0012645)
Associated genes and diseases:
gene_symbol: LMNA
disease_id: OMIM:151660
disease_name: LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 2
Phenotype: Retractile testis (HP:0012646)
Associated genes and diseases:
gene_symbol: NR5A1
disease_id: OMIM:617480
disease_name: 46,XX SEX REVERSAL 4
gene_symbol: LARP7
disease_id: OMIM:615071
disease_name: ALAZAMI SYNDROME
gene_symbol: TBCD
disease_id: OMIM:617193
disease_name: ENCEPHALOPATHY, PROGRESSIVE, EARLY-ONSET, WITH BRAIN ATROPHY AND THIN CORPUS CALLOSUM
gene_symbol: POLA1
disease_id: ORPHA:163976
disease_name: X-linked intellectual disability, Van Esch type
Phenotype: Accelerated bone age after puberty (HP:0002805)
Associated genes and diseases:
gene_symbol: TRPS1
disease_id: OMIM:190350
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE I
gene_symbol: TRPS1
disease_id: OMIM:190351
disease_name: TRICHORHINOPHALANGEAL SYNDROME, TYPE III
Phenotype: Abnormal nail attachment (HP:0025756)
Associated genes and diseases:
gene_symbol: IFIH1
disease_id: OMIM:182250
disease_name: SINGLETON-MERTEN SYNDROME 1
gene_symbol: KRT14
disease_id: ORPHA:69087
disease_name: Naegeli-Franceschetti-Jadassohn syndrome
NFJ syndrome
Naegeli syndrome
gene_symbol: JUP
disease_id: OMIM:601214
disease_name: NAXOS DISEASE
gene_symbol: WNT10A
disease_id: OMIM:224750
disease_name: SCHOPF-SCHULZ-PASSARGE SYNDROME
gene_symbol: CAST
disease_id: OMIM:616295
disease_name: PEELING SKIN WITH LEUKONYCHIA, ACRAL PUNCTATE KERATOSES, CHEILITIS, AND KNUCKLE PADS
gene_symbol: FZD6
disease_id: OMIM:161050
disease_name: NAIL DISORDER, NONSYNDROMIC CONGENITAL, 1
gene_symbol: PPP1R13L
disease_id: OMIM:620519
disease_name: ARRHYTHMOGENIC CARDIOMYOPATHY WITH VARIABLE ECTODERMAL ABNORMALITIES
gene_symbol: HLA-C
disease_id: OMIM:177900
disease_name: PSORIASIS 1, SUSCEPTIBILITY TO
gene_symbol: ATR
disease_id: OMIM:614564
disease_name: CUTANEOUS TELANGIECTASIA AND CANCER SYNDROME, FAMILIAL
gene_symbol: UROD
disease_id: OMIM:176100
disease_name: PORPHYRIA CUTANEA TARDA
gene_symbol: ITGA3
disease_id: OMIM:614748
disease_name: INTERSTITIAL LUNG DISEASE, NEPHROTIC SYNDROME, AND EPIDERMOLYSIS BULLOSA, CONGENITAL
gene_symbol: KRT74
disease_id: OMIM:614929
disease_name: ECTODERMAL DYSPLASIA 7, HAIR/NAIL TYPE
gene_symbol: KRT85
disease_id: OMIM:602032
disease_name: ECTODERMAL DYSPLASIA 4, HAIR/NAIL TYPE
gene_symbol: GJB6
disease_id: OMIM:129500
disease_name: CLOUSTON SYNDROME
gene_symbol: CDSN
disease_id: OMIM:270300
disease_name: PEELING SKIN SYNDROME 1
gene_symbol: DSG1
disease_id: OMIM:148700
disease_name: PALMOPLANTAR KERATODERMA I, STRIATE, FOCAL, OR DIFFUSE
gene_symbol: DKC1
disease_id: OMIM:305000
disease_name: DYSKERATOSIS CONGENITA, X-LINKED
gene_symbol: NOP10
disease_id: OMIM:224230
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
gene_symbol: NHP2
disease_id: OMIM:224230
disease_name: DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 1
gene_symbol: COL7A1
disease_id: ORPHA:231568
disease_name: Autosomal dominant generalized dystrophic epidermolysis bullosa
Generalized DDEB
gene_symbol: COL7A1
disease_id: ORPHA:158673
disease_name: Localized dystrophic epidermolysis bullosa, acral form
Localized DEB, acral form
gene_symbol: LAMA3
disease_id: OMIM:245660
disease_name: LARYNGOONYCHOCUTANEOUS SYNDROME
gene_symbol: ITGB4
disease_id: OMIM:619816
disease_name: EPIDERMOLYSIS BULLOSA, JUNCTIONAL 5A, INTERMEDIATE
gene_symbol: KRT5
disease_id: OMIM:619594
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX 2C, LOCALIZED
gene_symbol: HOXC13
disease_id: OMIM:614931
disease_name: ECTODERMAL DYSPLASIA 9, HAIR/NAIL TYPE
Phenotype: Status asthmaticus (HP:0012653)
Associated genes and diseases:
gene_symbol: FOCAD
disease_id: OMIM:619991
disease_name: LIVER DISEASE, SEVERE CONGENITAL
Phenotype: Abnormal positive emotional state (HP:0025767)
Associated genes and diseases:
gene_symbol: TYROBP
disease_id: OMIM:221770
disease_name: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
gene_symbol: TREM2
disease_id: OMIM:221770
disease_name: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1
Phenotype: 2-3 finger osseus syndactyly (HP:0025770)
Associated genes and diseases:
gene_symbol: SMO
disease_id: OMIM:601707
disease_name: CURRY-JONES SYNDROME
Phenotype: Neuropathic arthropathy (HP:0002821)
Associated genes and diseases:
gene_symbol: ATL3
disease_id: OMIM:615632
disease_name: NEUROPATHY, HEREDITARY SENSORY, TYPE IF
gene_symbol: ATL3
disease_id: ORPHA:36386
disease_name: Hereditary sensory and autonomic neuropathy type 1
HSAN1
Hereditary sensory and autonomic neuropathy type I
gene_symbol: ELP1
disease_id: OMIM:223900
disease_name: NEUROPATHY, HEREDITARY SENSORY AND AUTONOMIC, TYPE III
gene_symbol: NTRK1
disease_id: ORPHA:642
disease_name: Hereditary sensory and autonomic neuropathy type 4
CIPA
Congenital insensitivity to pain with anhidrosis
HSAN4
Hereditary sensory and autonomic neuropathy type IV
gene_symbol: NTRK1
disease_id: OMIM:256800
disease_name: INSENSITIVITY TO PAIN, CONGENITAL, WITH ANHIDROSIS
gene_symbol: SPTLC1
disease_id: ORPHA:36386
disease_name: Hereditary sensory and autonomic neuropathy type 1
HSAN1
Hereditary sensory and autonomic neuropathy type I
gene_symbol: SPTLC2
disease_id: ORPHA:36386
disease_name: Hereditary sensory and autonomic neuropathy type 1
HSAN1
Hereditary sensory and autonomic neuropathy type I
gene_symbol: ATL1
disease_id: ORPHA:36386
disease_name: Hereditary sensory and autonomic neuropathy type 1
HSAN1
Hereditary sensory and autonomic neuropathy type I
Phenotype: Hyperplasia of the femoral trochanters (HP:0002822)
Associated genes and diseases:
gene_symbol: TRPV4
disease_id: OMIM:156530
disease_name: METATROPIC DYSPLASIA
gene_symbol: B3GALT6
disease_id: OMIM:615349
disease_name: EHLERS-DANLOS SYNDROME, SPONDYLODYSPLASTIC TYPE, 2
gene_symbol: B3GALT6
disease_id: OMIM:271640
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES
Phenotype: Thalamic hypometabolism in FDG PET (HP:0012660)
Associated genes and diseases:
gene_symbol: PRNP
disease_id: ORPHA:466
disease_name: Fatal familial insomnia
FFI
Phenotype: Parietal hypometabolism in FDG PET (HP:0012662)
Associated genes and diseases:
gene_symbol: PSEN2
disease_id: OMIM:606889
disease_name: ALZHEIMER DISEASE 4
gene_symbol: APOE
disease_id: OMIM:606889
disease_name: ALZHEIMER DISEASE 4
Phenotype: Mildly reduced left ventricular ejection fraction (HP:0012663)
Associated genes and diseases:
gene_symbol: KCNJ2
disease_id: OMIM:609622
disease_name: SHORT QT SYNDROME 3
gene_symbol: MYZAP
disease_id: OMIM:620894
disease_name: OMIM:620894
gene_symbol: TOP3A
disease_id: OMIM:618098
disease_name: PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 5
Phenotype: Moderately reduced left ventricular ejection fraction (HP:0012665)
Associated genes and diseases:
gene_symbol: CRYAB
disease_id: OMIM:615184
disease_name: CARDIOMYOPATHY, DILATED, 1II
gene_symbol: MYZAP
disease_id: OMIM:620894
disease_name: OMIM:620894
Phenotype: Severely reduced left ventricular ejection fraction (HP:0012666)
Associated genes and diseases:
gene_symbol: LAMP2
disease_id: OMIM:300257
disease_name: DANON DISEASE
gene_symbol: LMOD2
disease_id: OMIM:619897
disease_name: CARDIOMYOPATHY, DILATED, 2G
gene_symbol: MYH6
disease_id: OMIM:613251
disease_name: CARDIOMYOPATHY, FAMILIAL HYPERTROPHIC, 14
gene_symbol: RRAGC
disease_id: OMIM:620609
disease_name: LONG-OLSEN-DISTELMAIER SYNDROME
gene_symbol: COQ4
disease_id: OMIM:616276
disease_name: COENZYME Q10 DEFICIENCY, PRIMARY, 7
gene_symbol: TNNI3
disease_id: OMIM:613286
disease_name: CARDIOMYOPATHY, DILATED, 1FF
gene_symbol: PSEN1
disease_id: OMIM:613694
disease_name: CARDIOMYOPATHY, DILATED, 1U
gene_symbol: FLII
disease_id: OMIM:620635
disease_name: CARDIOMYOPATHY, DILATED, 2J
gene_symbol: MRPL39
disease_id: OMIM:620646
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 59
gene_symbol: BAG5
disease_id: OMIM:619747
disease_name: CARDIOMYOPATHY, DILATED, 2F
gene_symbol: GNPTAB
disease_id: OMIM:252600
disease_name: MUCOLIPIDOSIS III ALPHA/BETA
gene_symbol: MYZAP
disease_id: OMIM:620894
disease_name: OMIM:620894
gene_symbol: DSG2
disease_id: OMIM:612877
disease_name: CARDIOMYOPATHY, DILATED, 1BB
gene_symbol: TTN
disease_id: OMIM:611705
disease_name: SALIH MYOPATHY
gene_symbol: GTPBP3
disease_id: ORPHA:444013
disease_name: Combined oxidative phosphorylation defect type 23
COXPD23
gene_symbol: CAP2
disease_id: OMIM:620462
disease_name: CARDIOMYOPATHY, DILATED, 2I
Phenotype: Caudal appendage (HP:0002825)
Associated genes and diseases:
gene_symbol: MASP1
disease_id: OMIM:257920
disease_name: 3MC SYNDROME 1
gene_symbol: MASP1
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: COLEC11
disease_id: OMIM:265050
disease_name: 3MC SYNDROME 2
gene_symbol: COLEC11
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: TRPV4
disease_id: OMIM:156530
disease_name: METATROPIC DYSPLASIA
gene_symbol: COLEC10
disease_id: ORPHA:293843
disease_name: 3MC syndrome
Craniofacial-ulnar-renal syndrome
Malpuech-Michels-Mingarelli-Carnevale syndrome
gene_symbol: FAT4
disease_id: ORPHA:314679
disease_name: Cerebrofacioarticular syndrome
Van Maldergem syndrome
gene_symbol: DCHS1
disease_id: ORPHA:314679
disease_name: Cerebrofacioarticular syndrome
Van Maldergem syndrome
Phenotype: Halberd-shaped pelvis (HP:0002826)
Associated genes and diseases:
gene_symbol: TRPV4
disease_id: ORPHA:2635
disease_name: Metatropic dysplasia
Metatropic dwarfism
gene_symbol: TRPV4
disease_id: OMIM:156530
disease_name: METATROPIC DYSPLASIA
gene_symbol: TRPV4
disease_id: OMIM:184252
disease_name: SPONDYLOMETAPHYSEAL DYSPLASIA, KOZLOWSKI TYPE
Phenotype: Long coccyx (HP:0002831)
Associated genes and diseases:
gene_symbol: TRPV4
disease_id: OMIM:156530
disease_name: METATROPIC DYSPLASIA
Phenotype: Orthostatic syncope (HP:0012670)
Associated genes and diseases:
gene_symbol: DBH
disease_id: ORPHA:230
disease_name: Dopamine beta-hydroxylase deficiency
DBH deficiency
gene_symbol: COQ2
disease_id: ORPHA:227510
disease_name: Multiple system atrophy, cerebellar type
MSA, cerebellar type
MSA-c
Sporadic OPCA type 1
Sporadic olivopontocerebellar atrophy type 1
gene_symbol: COQ2
disease_id: ORPHA:98933
disease_name: Multiple system atrophy, parkinsonian type
MSA, parkinsonian type
MSA-p
Phenotype: Abulia (HP:0012671)
Associated genes and diseases:
gene_symbol: CHMP2B
disease_id: ORPHA:100069
disease_name: Semantic dementia
Semantic primary progressive aphasia
Semantic variant PPA
gene_symbol: CHMP2B
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: PSEN1
disease_id: ORPHA:100069
disease_name: Semantic dementia
Semantic primary progressive aphasia
Semantic variant PPA
gene_symbol: PSEN1
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: GRN
disease_id: ORPHA:100069
disease_name: Semantic dementia
Semantic primary progressive aphasia
Semantic variant PPA
gene_symbol: GRN
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: TMEM106B
disease_id: ORPHA:100069
disease_name: Semantic dementia
Semantic primary progressive aphasia
Semantic variant PPA
gene_symbol: TMEM106B
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: MAPT
disease_id: ORPHA:100069
disease_name: Semantic dementia
Semantic primary progressive aphasia
Semantic variant PPA
gene_symbol: MAPT
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: TREM2
disease_id: ORPHA:100069
disease_name: Semantic dementia
Semantic primary progressive aphasia
Semantic variant PPA
gene_symbol: TREM2
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: HTRA1
disease_id: ORPHA:199354
disease_name: Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
CARASIL
Maeda syndrome
gene_symbol: SQSTM1
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: VCP
disease_id: ORPHA:275864
disease_name: Behavioral variant of frontotemporal dementia
bv-FTD
gene_symbol: NOTCH3
disease_id: OMIM:125310
disease_name: CEREBRAL ARTERIOPATHY, AUTOSOMAL DOMINANT, WITH SUBCORTICAL INFARCTS AND LEUKOENCEPHALOPATHY, TYPE 1
Phenotype: Akinetic mutism (HP:0012672)
Associated genes and diseases:
gene_symbol: DCX
disease_id: ORPHA:2148
disease_name: Lissencephaly type 1 due to doublecortin gene mutation
X-linked lissencephaly type 1
gene_symbol: SPG21
disease_id: OMIM:248900
disease_name: MAST SYNDROME
gene_symbol: PRNP
disease_id: ORPHA:282166
disease_name: Inherited Creutzfeldt-Jakob disease
Inherited CJD
gene_symbol: HTRA1
disease_id: ORPHA:199354
disease_name: Cerebral autosomal recessive arteriopathy-subcortical infarcts-leukoencephalopathy
CARASIL
Maeda syndrome
Phenotype: Iron accumulation in brain (HP:0012675)
Associated genes and diseases:
gene_symbol: COASY
disease_id: ORPHA:397725
disease_name: COASY protein-associated neurodegeneration
CoPAN
NBIA6
Neurodegeneration with brain iron accumulation due to COASY mutation
gene_symbol: VPS41
disease_id: OMIM:619389
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29
gene_symbol: C19orf12
disease_id: OMIM:614298
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 4
gene_symbol: FA2H
disease_id: ORPHA:171629
disease_name: Autosomal recessive spastic paraplegia type 35
SPG35
gene_symbol: NUDT2
disease_id: OMIM:619844
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH OR WITHOUT PERIPHERAL NEUROPATHY
gene_symbol: DLAT
disease_id: ORPHA:79244
disease_name: Pyruvate dehydrogenase E2 deficiency
Dihydrolipoamide acetyltransferase component of pyruvate dehydrogenase complex deficiency
Dihydrolipoyllysine-residue acetyltransferase component of pyruvate dehydrogenase complex deficiency
Pyruvate dehydrogenase complex component E2 deficiency
gene_symbol: PLA2G6
disease_id: OMIM:256600
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 2A
gene_symbol: PLA2G6
disease_id: ORPHA:199351
disease_name: Adult-onset dystonia-parkinsonism
Dystonia-parkinsonism, Paisan-Ruiz type
PARK14
PLA2G6-related dystonia-parkinsonism
gene_symbol: PLA2G6
disease_id: ORPHA:35069
disease_name: Infantile neuroaxonal dystrophy
INAD
INAD1
PLAN
Phospholipase A2-associated neurodegeneration
Seitelberger disease
gene_symbol: FTH1
disease_id: OMIM:620669
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 9
gene_symbol: VPS13A
disease_id: ORPHA:2388
disease_name: Choreoacanthocytosis
ChAc
Chorea-acanthocytosis
Levine-Critchley syndrome
gene_symbol: CP
disease_id: ORPHA:48818
disease_name: Aceruloplasminemia
Hereditary ceruloplasmin deficiency
gene_symbol: WDR45
disease_id: OMIM:300894
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 5
gene_symbol: WDR45
disease_id: ORPHA:329284
disease_name: Beta-propeller protein-associated neurodegeneration
BPAN
NBIA5
Neurodegeneration with brain iron accumulation type 5
SENDA
Static encephalopathy of childhood with neurodegeneration in adulthood
gene_symbol: FTL
disease_id: ORPHA:157846
disease_name: Neuroferritinopathy
Adult basal ganglia disease
Ferritin-related neurodegeneration
Hereditary ferritinopathy
gene_symbol: CRAT
disease_id: OMIM:617917
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 8
gene_symbol: REPS1
disease_id: OMIM:617916
disease_name: NEURODEGENERATION WITH BRAIN IRON ACCUMULATION 7
gene_symbol: PANK2
disease_id: ORPHA:216866
disease_name: Classic pantothenate kinase-associated neurodegeneration
NBIA1, classic form
Neurodegeneration with brain iron accumulation type 1, classic form
PKAN, classic form
gene_symbol: TBCE
disease_id: ORPHA:496756
disease_name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
Phenotype: Iron accumulation in substantia nigra (HP:0012678)
Associated genes and diseases:
gene_symbol: FTL
disease_id: ORPHA:157846
disease_name: Neuroferritinopathy
Adult basal ganglia disease
Ferritin-related neurodegeneration
Hereditary ferritinopathy
gene_symbol: WDR45
disease_id: ORPHA:329284
disease_name: Beta-propeller protein-associated neurodegeneration
BPAN
NBIA5
Neurodegeneration with brain iron accumulation type 5
SENDA
Static encephalopathy of childhood with neurodegeneration in adulthood
gene_symbol: VPS41
disease_id: OMIM:619389
disease_name: SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 29
gene_symbol: TBCE
disease_id: ORPHA:496756
disease_name: Early-onset progressive encephalopathy-spastic ataxia-distal spinal muscular atrophy syndrome
Phenotype: Widened interpedicular distance (HP:0012679)
Associated genes and diseases:
gene_symbol: FGFR3
disease_id: OMIM:146000
disease_name: HYPOCHONDROPLASIA