TaoMedAI/RareMedData huggingface dataset:
Phenotype: Hypoplastic fifth toenail (HP:0011937)
Associated genes and diseases:
gene_symbol: SMARCA4
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCB1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SOX4
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID1A
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: DPF2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: DPF2
disease_id: OMIM:618027
disease_name: COFFIN-SIRIS SYNDROME 7
gene_symbol: SMARCC2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCD1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID1B
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: ARID2
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SMARCE1
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SOX11
disease_id: ORPHA:1465
disease_name: Coffin-Siris syndrome
CSS
gene_symbol: SOX11
disease_id: OMIM:615866
disease_name: COFFIN-SIRIS SYNDROME 9
gene_symbol: MSX1
disease_id: OMIM:189500
disease_name: WITKOP SYNDROME
gene_symbol: SET
disease_id: OMIM:618106
disease_name: MENTAL RETARDATION, AUTOSOMAL DOMINANT 58
gene_symbol: PPP2R5D
disease_id: ORPHA:457279
disease_name: Intellectual disability-macrocephaly-hypotonia-behavioral abnormalities syndrome
gene_symbol: HOXA13
disease_id: ORPHA:2438
disease_name: Hand-foot-genital syndrome
HFGS
Hand-foot-uterus syndrome
gene_symbol: KRT5
disease_id: OMIM:131960
disease_name: EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION
Phenotype: Abnormal cerebellar peduncle morphology (HP:0011931)
Associated genes and diseases:
gene_symbol: CEP290
disease_id: OMIM:610188
disease_name: JOUBERT SYNDROME 5
gene_symbol: TMEM216
disease_id: OMIM:608091
disease_name: JOUBERT SYNDROME 2
gene_symbol: TMEM67
disease_id: OMIM:610688
disease_name: JOUBERT SYNDROME 6
gene_symbol: NPHP1
disease_id: OMIM:609583
disease_name: JOUBERT SYNDROME 4
gene_symbol: CYP27A1
disease_id: ORPHA:909
disease_name: Cerebrotendinous xanthomatosis
CTX
Sterol 27-hydroxylase deficiency
gene_symbol: SACS
disease_id: ORPHA:98
disease_name: Autosomal recessive spastic ataxia of Charlevoix-Saguenay
ARSACS
Autosomal recessive spastic ataxia type 6
SPAX6
gene_symbol: LMNB1
disease_id: ORPHA:99027
disease_name: Adult-onset autosomal dominant leukodystrophy
ADLD
Adult-onset autosomal dominant demyelinating leukodystrophy
gene_symbol: FLI1
disease_id: ORPHA:370348
disease_name: Peripheral primitive neuroectodermal tumor
PPNET
Peripheral PNET
Peripheral neuroepithelioma
gene_symbol: AHI1
disease_id: OMIM:608629
disease_name: JOUBERT SYNDROME 3
gene_symbol: CSPP1
disease_id: ORPHA:397715
disease_name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
JBTS with JATD
Joubert syndrome with JATD
gene_symbol: CSPP1
disease_id: OMIM:615636
disease_name: JOUBERT SYNDROME 21
gene_symbol: KIAA0586
disease_id: ORPHA:397715
disease_name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
JBTS with JATD
Joubert syndrome with JATD
gene_symbol: ARL3
disease_id: OMIM:618161
disease_name: JOUBERT SYNDROME 35
gene_symbol: LAMA1
disease_id: ORPHA:370022
disease_name: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Poretti-Boltshauser syndrome
gene_symbol: INPP5E
disease_id: OMIM:213300
disease_name: JOUBERT SYNDROME 1
gene_symbol: CLCN3
disease_id: OMIM:619512
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
Phenotype: Abnormal superior cerebellar peduncle morphology (HP:0011932)
Associated genes and diseases:
gene_symbol: CEP290
disease_id: OMIM:610188
disease_name: JOUBERT SYNDROME 5
gene_symbol: TMEM216
disease_id: OMIM:608091
disease_name: JOUBERT SYNDROME 2
gene_symbol: TMEM67
disease_id: OMIM:610688
disease_name: JOUBERT SYNDROME 6
gene_symbol: NPHP1
disease_id: OMIM:609583
disease_name: JOUBERT SYNDROME 4
gene_symbol: FLI1
disease_id: ORPHA:370348
disease_name: Peripheral primitive neuroectodermal tumor
PPNET
Peripheral PNET
Peripheral neuroepithelioma
gene_symbol: AHI1
disease_id: OMIM:608629
disease_name: JOUBERT SYNDROME 3
gene_symbol: CSPP1
disease_id: ORPHA:397715
disease_name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
JBTS with JATD
Joubert syndrome with JATD
gene_symbol: CSPP1
disease_id: OMIM:615636
disease_name: JOUBERT SYNDROME 21
gene_symbol: KIAA0586
disease_id: ORPHA:397715
disease_name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
JBTS with JATD
Joubert syndrome with JATD
gene_symbol: ARL3
disease_id: OMIM:618161
disease_name: JOUBERT SYNDROME 35
gene_symbol: LAMA1
disease_id: ORPHA:370022
disease_name: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Poretti-Boltshauser syndrome
gene_symbol: INPP5E
disease_id: OMIM:213300
disease_name: JOUBERT SYNDROME 1
gene_symbol: CLCN3
disease_id: OMIM:619512
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
Phenotype: Elongated superior cerebellar peduncle (HP:0011933)
Associated genes and diseases:
gene_symbol: AHI1
disease_id: OMIM:608629
disease_name: JOUBERT SYNDROME 3
gene_symbol: CSPP1
disease_id: ORPHA:397715
disease_name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
JBTS with JATD
Joubert syndrome with JATD
gene_symbol: CSPP1
disease_id: OMIM:615636
disease_name: JOUBERT SYNDROME 21
gene_symbol: KIAA0586
disease_id: ORPHA:397715
disease_name: Joubert syndrome with Jeune asphyxiating thoracic dystrophy
JBTS with JATD
Joubert syndrome with JATD
gene_symbol: ARL3
disease_id: OMIM:618161
disease_name: JOUBERT SYNDROME 35
gene_symbol: LAMA1
disease_id: ORPHA:370022
disease_name: Ataxia-intellectual disability-oculomotor apraxia-cerebellar cysts syndrome
Poretti-Boltshauser syndrome
gene_symbol: TMEM216
disease_id: OMIM:608091
disease_name: JOUBERT SYNDROME 2
gene_symbol: INPP5E
disease_id: OMIM:213300
disease_name: JOUBERT SYNDROME 1
gene_symbol: TMEM67
disease_id: OMIM:610688
disease_name: JOUBERT SYNDROME 6
gene_symbol: CLCN3
disease_id: OMIM:619512
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA AND BRAIN ABNORMALITIES
gene_symbol: NPHP1
disease_id: OMIM:609583
disease_name: JOUBERT SYNDROME 4
Phenotype: Dilatation of mesenteric artery (HP:0011934)
Associated genes and diseases:
gene_symbol: ENG
disease_id: OMIM:187300
disease_name: TELANGIECTASIA, HEREDITARY HEMORRHAGIC, TYPE 1
gene_symbol: TGFBR2
disease_id: OMIM:610168
disease_name: LOEYS-DIETZ SYNDROME 2
Phenotype: Elevated brain glycine level by MRS (HP:0034893)
Associated genes and diseases:
gene_symbol: GCSH
disease_id: OMIM:620423
disease_name: MULTIPLE MITOCHONDRIAL DYSFUNCTIONS SYNDROME 7
Phenotype: Elevated brain polyol compounds by MRS (HP:0034894)
Associated genes and diseases:
gene_symbol: RPIA
disease_id: OMIM:608611
disease_name: RIBOSE 5-PHOSPHATE ISOMERASE DEFICIENCY
Phenotype: Bronchiolitis obliterans (HP:0011946)
Associated genes and diseases:
gene_symbol: BTK
disease_id: OMIM:300755
disease_name: AGAMMAGLOBULINEMIA, X-LINKED
gene_symbol: NSMCE3
disease_id: OMIM:617241
disease_name: LUNG DISEASE, IMMUNODEFICIENCY, AND CHROMOSOME BREAKAGE SYNDROME
Phenotype: Recurrent acute respiratory tract infection (HP:0011948)
Associated genes and diseases:
gene_symbol: REEP1
disease_id: OMIM:620011
disease_name: NEURONOPATHY, DISTAL HEREDITARY MOTOR, AUTOSOMAL RECESSIVE 6
gene_symbol: SLC35C1
disease_id: OMIM:266265
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc
gene_symbol: PLEC
disease_id: ORPHA:254361
disease_name: Plectin-related limb-girdle muscular dystrophy R17
Autosomal recessive limb-girdle muscular dystrophy type 2Q
LGMD type 2Q
LGMD2Q
Limb-girdle muscular dystrophy type 2Q
Plectin-related LGMD R17
gene_symbol: SDCCAG8
disease_id: OMIM:615993
disease_name: BARDET-BIEDL SYNDROME 16
gene_symbol: ELN
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: FBLN5
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: ALDH18A1
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: PLCG2
disease_id: OMIM:614878
disease_name: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION
gene_symbol: TAP1
disease_id: OMIM:604571
disease_name: BARE LYMPHOCYTE SYNDROME, TYPE I
gene_symbol: GBA1
disease_id: OMIM:230900
disease_name: GAUCHER DISEASE, TYPE II
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
Phenotype: Acute infectious pneumonia (HP:0011949)
Associated genes and diseases:
gene_symbol: CSF2RB
disease_id: ORPHA:264675
disease_name: Hereditary pulmonary alveolar proteinosis
Congenital PAP
Congenital pulmonary alveolar proteinosis
gene_symbol: CSF2RA
disease_id: ORPHA:264675
disease_name: Hereditary pulmonary alveolar proteinosis
Congenital PAP
Congenital pulmonary alveolar proteinosis
gene_symbol: SCNN1G
disease_id: ORPHA:60033
disease_name: Idiopathic bronchiectasis
gene_symbol: CFTR
disease_id: ORPHA:60033
disease_name: Idiopathic bronchiectasis
gene_symbol: SCNN1A
disease_id: ORPHA:60033
disease_name: Idiopathic bronchiectasis
gene_symbol: SCNN1B
disease_id: ORPHA:60033
disease_name: Idiopathic bronchiectasis
Phenotype: Increased urinary sulfite level (HP:0011942)
Associated genes and diseases:
gene_symbol: MOCS1
disease_id: OMIM:252150
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
gene_symbol: MOCS2
disease_id: OMIM:252160
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP B
gene_symbol: SUOX
disease_id: OMIM:272300
disease_name: SULFITE OXIDASE DEFICIENCY, ISOLATED
Phenotype: Increased urinary thiosulfate (HP:0011943)
Associated genes and diseases:
gene_symbol: MOCS1
disease_id: OMIM:252150
disease_name: MOLYBDENUM COFACTOR DEFICIENCY, COMPLEMENTATION GROUP A
Phenotype: Elevated urinary 2,8-dihydroxyadenine level (HP:6000803)
Associated genes and diseases:
gene_symbol: APRT
disease_id: OMIM:614723
disease_name: ADENINE PHOSPHORIBOSYLTRANSFERASE DEFICIENCY
Phenotype: Elevated urine fructose level (HP:6000804)
Associated genes and diseases:
gene_symbol: KHK
disease_id: OMIM:229800
disease_name: FRUCTOSURIA, ESSENTIAL
Phenotype: Elevated urinary phosphohydroxylysine level (HP:6000806)
Associated genes and diseases:
gene_symbol: PHYKPL
disease_id: OMIM:615011
disease_name: PHOSPHOHYDROXYLYSINURIA
Phenotype: Cervical C6/C7 vertebrae fusion (HP:6000807)
Associated genes and diseases:
gene_symbol: GDF3
disease_id: OMIM:613702
disease_name: KLIPPEL-FEIL SYNDROME 3, AUTOSOMAL DOMINANT
gene_symbol: FGFR2
disease_id: OMIM:101200
disease_name: APERT SYNDROME
gene_symbol: PLOD2
disease_id: OMIM:609220
disease_name: BRUCK SYNDROME 2
Phenotype: Periumbilical depression (HP:6000808)
Associated genes and diseases:
gene_symbol: MASP1
disease_id: OMIM:257920
disease_name: 3MC SYNDROME 1
Phenotype: Thickened tibial cortex (HP:6000809)
Associated genes and diseases:
gene_symbol: COL1A1
disease_id: OMIM:114000
disease_name: CAFFEY DISEASE
Phenotype: Small vessel vasculitis (HP:0011944)
Associated genes and diseases:
gene_symbol: WAS
disease_id: OMIM:301000
disease_name: WISKOTT-ALDRICH SYNDROME
gene_symbol: MEFV
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
gene_symbol: MEFV
disease_id: OMIM:608068
disease_name: NEUTROPHILIC DERMATOSIS, ACUTE FEBRILE
gene_symbol: PTPN6
disease_id: ORPHA:3243
disease_name: Sweet syndrome
Acute febrile neutrophilic dermatosis
gene_symbol: DNASE1L3
disease_id: ORPHA:36412
disease_name: Hypocomplementemic urticarial vasculitis
Anti-C1q vasculitis
Mac Duffie hypocomplementemic urticarial vasculitis
Mac Duffie syndrome
McDuffie hypocomplementemic urticarial vasculitis
McDuffie syndrome
gene_symbol: LYN
disease_id: OMIM:620376
disease_name: AUTOINFLAMMATORY DISEASE, SYSTEMIC, WITH VASCULITIS
Phenotype: Bronchiolitis obliterans organizing pneumonia (HP:0011945)
Associated genes and diseases:
gene_symbol: PIK3CG
disease_id: OMIM:619802
disease_name: IMMUNODEFICIENCY 97 WITH AUTOINFLAMMATION
gene_symbol: UNC119
disease_id: OMIM:615518
disease_name: IMMUNODEFICIENCY 13
Phenotype: Anterior wedging of T12 (HP:0011940)
Associated genes and diseases:
gene_symbol: BGN
disease_id: OMIM:300106
disease_name: SPONDYLOEPIMETAPHYSEAL DYSPLASIA, X-LINKED
gene_symbol: FANCC
disease_id: OMIM:227645
disease_name: FANCONI ANEMIA, COMPLEMENTATION GROUP C
Phenotype: Anterior wedging of L2 (HP:0011941)
Associated genes and diseases:
gene_symbol: ARSB
disease_id: OMIM:253200
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE VI
Phenotype: Bronchiolitis (HP:0011950)
Associated genes and diseases:
gene_symbol: SLC35C1
disease_id: OMIM:266265
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIc
gene_symbol: PLEC
disease_id: ORPHA:254361
disease_name: Plectin-related limb-girdle muscular dystrophy R17
Autosomal recessive limb-girdle muscular dystrophy type 2Q
LGMD type 2Q
LGMD2Q
Limb-girdle muscular dystrophy type 2Q
Plectin-related LGMD R17
gene_symbol: SDCCAG8
disease_id: OMIM:615993
disease_name: BARDET-BIEDL SYNDROME 16
gene_symbol: ELN
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: FBLN5
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: ALDH18A1
disease_id: ORPHA:90348
disease_name: Autosomal dominant cutis laxa
ADCL
gene_symbol: PLCG2
disease_id: OMIM:614878
disease_name: AUTOINFLAMMATION, ANTIBODY DEFICIENCY, AND IMMUNE DYSREGULATION
gene_symbol: TAP1
disease_id: OMIM:604571
disease_name: BARE LYMPHOCYTE SYNDROME, TYPE I
gene_symbol: GBA1
disease_id: OMIM:230900
disease_name: GAUCHER DISEASE, TYPE II
gene_symbol: KMT2D
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
gene_symbol: KDM6A
disease_id: OMIM:147920
disease_name: KABUKI SYNDROME 1
Phenotype: Acute aspiration pneumonia (HP:0011952)
Associated genes and diseases:
gene_symbol: PIGA
disease_id: OMIM:300868
disease_name: MULTIPLE CONGENITAL ANOMALIES-HYPOTONIA-SEIZURES SYNDROME 2
Phenotype: Nodular regenerative hyperplasia of liver (HP:0011954)
Associated genes and diseases:
gene_symbol: TREX1
disease_id: ORPHA:247691
disease_name: Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations
RVCL
RVCL-S
Retinal vasculopathy and cerebral leukoencephalopathy
gene_symbol: STX5
disease_id: OMIM:620454
disease_name: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IIaa
gene_symbol: SASH3
disease_id: OMIM:301082
disease_name: IMMUNODEFICIENCY 102
gene_symbol: POT1
disease_id: OMIM:620367
disease_name: PULMONARY FIBROSIS AND/OR BONE MARROW FAILURE SYNDROME, TELOMERE-RELATED, 8
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: GIMAP5
disease_id: OMIM:619463
disease_name: PORTAL HYPERTENSION, NONCIRRHOTIC, 2
Phenotype: Intestinal lymphoid nodular hyperplasia (HP:0011956)
Associated genes and diseases:
gene_symbol: PIK3CD
disease_id: ORPHA:693661
disease_name: ORPHA:693661
gene_symbol: PIK3R1
disease_id: ORPHA:693681
disease_name: ORPHA:693681
Phenotype: Abnormal pectoral muscle morphology (HP:0011957)
Associated genes and diseases:
gene_symbol: LMX1B
disease_id: OMIM:161200
disease_name: NAIL-PATELLA SYNDROME
gene_symbol: SALL4
disease_id: OMIM:147750
disease_name: IVIC SYNDROME
gene_symbol: CAPN3
disease_id: ORPHA:267
disease_name: Calpain-3-related limb-girdle muscular dystrophy R1
Autosomal recessive limb-girdle muscular dystrophy type 2A
Calpain-3-related LGMD R1
LGMD type 2A
LGMD2A
Limb-girdle muscular dystrophy due to calpain deficiency
Limb-girdle muscular dystrophy type 2A
Primary calpainopathy
gene_symbol: DUX4L1
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
gene_symbol: DNMT3B
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
gene_symbol: FRG1
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
gene_symbol: SMCHD1
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
gene_symbol: DUX4
disease_id: ORPHA:269
disease_name: Facioscapulohumeral dystrophy
FSH dystrophy
FSHD
Facioscapulohumeral muscular dystrophy
Facioscapulohumeral myopathy
Landouzy-Dejerine dystrophy
Landouzy-Dejerine myopathy
Phenotype: Retinal perforation (HP:0011958)
Associated genes and diseases:
gene_symbol: HLA-A
disease_id: ORPHA:179
disease_name: Birdshot chorioretinopathy
Birdshot chorioretinitis
Birdshot retinochoroiditis
Birdshot retinochoroidopathy
Vitiliginous choroiditis
gene_symbol: FZD4
disease_id: OMIM:133780
disease_name: EXUDATIVE VITREORETINOPATHY 1
gene_symbol: LRP5
disease_id: OMIM:133780
disease_name: EXUDATIVE VITREORETINOPATHY 1
gene_symbol: ZNF408
disease_id: OMIM:616468
disease_name: EXUDATIVE VITREORETINOPATHY 6
gene_symbol: BMP4
disease_id: ORPHA:828
disease_name: Stickler syndrome
Hereditary progressive arthroophthalmopathy
gene_symbol: CTNNB1
disease_id: OMIM:617572
disease_name: EXUDATIVE VITREORETINOPATHY 7
gene_symbol: COL2A1
disease_id: OMIM:108300
disease_name: STICKLER SYNDROME, TYPE I
gene_symbol: NDP
disease_id: OMIM:305390
disease_name: EXUDATIVE VITREORETINOPATHY 2, X-LINKED
gene_symbol: LRIT3
disease_id: OMIM:615058
disease_name: NIGHT BLINDNESS, CONGENITAL STATIONARY, TYPE 1F
gene_symbol: PRPH2
disease_id: ORPHA:75377
disease_name: Central areolar choroidal dystrophy
Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis
gene_symbol: GUCY2D
disease_id: ORPHA:75377
disease_name: Central areolar choroidal dystrophy
Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis
gene_symbol: GUCA1A
disease_id: ORPHA:75377
disease_name: Central areolar choroidal dystrophy
Areolar atrophy of the macula
CACD
Central areolar choroidal sclerosis
Phenotype: Thickened cortex of the radius (HP:6000811)
Associated genes and diseases:
gene_symbol: COL1A1
disease_id: OMIM:114000
disease_name: CAFFEY DISEASE
Phenotype: Thickened cortex of the ulna (HP:6000812)
Associated genes and diseases:
gene_symbol: COL1A1
disease_id: OMIM:114000
disease_name: CAFFEY DISEASE
Phenotype: Melorheostosis (HP:6000817)
Associated genes and diseases:
gene_symbol: MAP2K1
disease_id: OMIM:155950
disease_name: MELORHEOSTOSIS, ISOLATED
gene_symbol: LEMD3
disease_id: OMIM:166700
disease_name: BUSCHKE-OLLENDORFF SYNDROME
Phenotype: Elevated circulating beta-glucuronidase activity (HP:6000819)
Associated genes and diseases:
gene_symbol: MBTPS1
disease_id: OMIM:618392
disease_name: SPONDYLOEPIPHYSEAL DYSPLASIA, KONDO-FU TYPE
Phenotype: Substantia nigra gliosis (HP:0011960)
Associated genes and diseases:
gene_symbol: LRRK2
disease_id: OMIM:607060
disease_name: PARKINSON DISEASE 8, AUTOSOMAL DOMINANT
gene_symbol: PRKN
disease_id: OMIM:600116
disease_name: PARKINSON DISEASE 2, AUTOSOMAL RECESSIVE JUVENILE
gene_symbol: ATXN3
disease_id: ORPHA:276238
disease_name: Machado-Joseph disease type 1
SCA3, Joseph type
Spinocerebellar ataxia type 3, Joseph type
gene_symbol: ATXN3
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: ATXN3
disease_id: ORPHA:276244
disease_name: Machado-Joseph disease type 3
SCA3, Machado type
Spinocerebellar ataxia type 3, Machado type
gene_symbol: ATXN3
disease_id: ORPHA:276241
disease_name: Machado-Joseph disease type 2
SCA3, Thomas type
Spinocerebellar ataxia, Thomas type
gene_symbol: GBA1
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: ADH1C
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: MAPT
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: MT-TT
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: SNCAIP
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: TBP
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: NR4A2
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: ATXN2
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: ATXN8OS
disease_id: OMIM:168600
disease_name: PARKINSON DISEASE, LATE-ONSET
gene_symbol: FBXO7
disease_id: ORPHA:171695
disease_name: Parkinsonian-pyramidal syndrome
Pallidopyramidal syndrome
gene_symbol: SNCA
disease_id: ORPHA:171695
disease_name: Parkinsonian-pyramidal syndrome
Pallidopyramidal syndrome
Phenotype: Intermittent painful muscle spasms (HP:0011964)
Associated genes and diseases:
gene_symbol: TFG
disease_id: ORPHA:90117
disease_name: Hereditary motor and sensory neuropathy, Okinawa type
HMSNP
Hereditary motor and sensory neuropathy, proximal type
gene_symbol: CPT2
disease_id: ORPHA:228302
disease_name: Carnitine palmitoyl transferase II deficiency, myopathic form
CPT2, adult-onset form
CPT2, myopathic form
CPTII, adult-onset form
CPTII, myopathic form
Carnitine palmitoyl transferase II deficiency, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, adult-onset form
Carnitine palmitoyl transferase deficiency type 2, myopathic form
gene_symbol: CPT2
disease_id: ORPHA:228305
disease_name: Carnitine palmitoyl transferase II deficiency, severe infantile form
CPT2, hepatocardiomuscular form
CPT2, severe infantile form
CPTII, hepatocardiomuscular form
CPTII, severe infantile form
Carnitine palmitoyl transferase II deficiency, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, hepatocardiomuscular form
Carnitine palmitoyl transferase deficiency type 2, severe infantile form
gene_symbol: CACNA1S
disease_id: ORPHA:423
disease_name: Malignant hyperthermia of anesthesia
Hyperthermia of anesthesia
gene_symbol: RYR1
disease_id: ORPHA:423
disease_name: Malignant hyperthermia of anesthesia
Hyperthermia of anesthesia
Phenotype: Elevated plasma citrulline (HP:0011966)
Associated genes and diseases:
gene_symbol: ASL
disease_id: ORPHA:23
disease_name: Argininosuccinic aciduria
ASA deficiency
ASL deficiency
Argininosuccinase deficiency
Argininosuccinatelyase deficiency
Argininosuccinic acid lyase deficiency
gene_symbol: SLC25A13
disease_id: OMIM:605814
disease_name: CITRULLINEMIA, TYPE II, NEONATAL-ONSET
gene_symbol: SLC25A13
disease_id: ORPHA:247585
disease_name: Citrullinemia type II
Adult-onset citrin deficiency
Adult-onset citrullinemia type 2
Adult-onset citrullinemia type II
CTLN2
Citrullinemia type 2
gene_symbol: SLC25A13
disease_id: ORPHA:247598
disease_name: Neonatal intrahepatic cholestasis due to citrin deficiency
NICCD
Neonatal intrahepatic cholestasis caused by citrin deficiency
gene_symbol: SLC25A13
disease_id: OMIM:603471
disease_name: CITRULLINEMIA, TYPE II, ADULT-ONSET
gene_symbol: SLC7A7
disease_id: ORPHA:470
disease_name: Lysinuric protein intolerance
Hyperdibasic aminoaciduria
LPI
gene_symbol: ASS1
disease_id: OMIM:215700
disease_name: CITRULLINEMIA, CLASSIC
gene_symbol: AASS
disease_id: ORPHA:3124
disease_name: Saccharopinuria
Hyperlysinemia type II
Saccharopine dehydrogenase deficiency