TaoMedAI/RareMedData huggingface dataset:
Phenotype: Eye poking (HP:0001483)
Associated genes and diseases:
gene_symbol: GUCY2D
disease_id: OMIM:204000
disease_name: LEBER CONGENITAL AMAUROSIS 1
gene_symbol: GUCY2D
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RPE65
disease_id: OMIM:204100
disease_name: LEBER CONGENITAL AMAUROSIS 2
gene_symbol: RPE65
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: KCNJ13
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RD3
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RDH12
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: CRX
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: NMNAT1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: NMNAT1
disease_id: OMIM:608553
disease_name: LEBER CONGENITAL AMAUROSIS 9
gene_symbol: RPGRIP1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RPGRIP1
disease_id: OMIM:613826
disease_name: LEBER CONGENITAL AMAUROSIS 6
gene_symbol: CEP290
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: TUBB4B
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: IFT140
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: USP45
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: CRB1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: CRB1
disease_id: OMIM:613835
disease_name: LEBER CONGENITAL AMAUROSIS 8
gene_symbol: PCYT1A
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: IQCB1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: GDF6
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: AIPL1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: LRAT
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: SPATA7
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: TULP1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: TULP1
disease_id: OMIM:613843
disease_name: LEBER CONGENITAL AMAUROSIS 15
gene_symbol: LCA5
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: IMPDH1
disease_id: ORPHA:65
disease_name: Leber congenital amaurosis
Amaurosis congenita of Leber
gene_symbol: RNU4-2
disease_id: OMIM:620851
disease_name: OMIM:620851
Phenotype: Posterior vitreous detachment (HP:0001489)
Associated genes and diseases:
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: LRP5
disease_id: OMIM:601813
disease_name: EXUDATIVE VITREORETINOPATHY 4
gene_symbol: ZNF408
disease_id: OMIM:616468
disease_name: EXUDATIVE VITREORETINOPATHY 6
Phenotype: Reduced hepatic N-acetylglutamate synthase activity (HP:6000161)
Associated genes and diseases:
gene_symbol: NAGS
disease_id: OMIM:237310
disease_name: N-ACETYLGLUTAMATE SYNTHASE DEFICIENCY
Phenotype: Post-angioplasty coronary artery restenosis (HP:0004761)
Associated genes and diseases:
gene_symbol: SERPIND1
disease_id: OMIM:612356
disease_name: HEPARIN COFACTOR II DEFICIENCY
Phenotype: Hypoplasia of right ventricle (HP:0004762)
Associated genes and diseases:
gene_symbol: PLD1
disease_id: OMIM:212093
disease_name: CARDIAC VALVULAR DEFECT, DEVELOPMENTAL
gene_symbol: TBX5
disease_id: OMIM:142900
disease_name: HOLT-ORAM SYNDROME
gene_symbol: GATA6
disease_id: ORPHA:2255
disease_name: Pancreatic hypoplasia-diabetes-congenital heart disease syndrome
PACHD
Pancreatic agenesis and congenital heart defects syndrome
Yorifuji-Okuno syndrome
gene_symbol: MMP21
disease_id: OMIM:616749
disease_name: HETEROTAXY, VISCERAL, 7, AUTOSOMAL
Phenotype: Paroxysmal supraventricular tachycardia (HP:0004763)
Associated genes and diseases:
gene_symbol: BMP2
disease_id: OMIM:617877
disease_name: SHORT STATURE, FACIAL DYSMORPHISM, AND SKELETAL ANOMALIES WITH OR WITHOUT CARDIAC ANOMALIES 1
gene_symbol: TNNI3K
disease_id: OMIM:616117
disease_name: CARDIAC CONDUCTION DISEASE WITH OR WITHOUT DILATED CARDIOMYOPATHY
gene_symbol: SLC19A2
disease_id: ORPHA:49827
disease_name: Thiamine-responsive megaloblastic anemia syndrome
Rogers syndrome
TRMA
Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural deafness
Thiamine-responsive megaloblastic anemia with diabetes mellitus and sensorineural hearing loss
gene_symbol: LMNA
disease_id: OMIM:613205
disease_name: MUSCULAR DYSTROPHY, CONGENITAL, LMNA-RELATED
gene_symbol: SPRED1
disease_id: ORPHA:137605
disease_name: Legius syndrome
NF1-like syndrome
Neurofibromatosis 1-like syndrome
Nonmosaic LGSS
Nonmosaic Legius syndrome
Phenotype: Myxomatous mitral valve degeneration (HP:0004764)
Associated genes and diseases:
gene_symbol: ELN
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: MLXIPL
disease_id: OMIM:194050
disease_name: WILLIAMS-BEUREN SYNDROME
gene_symbol: TAB2
disease_id: OMIM:614980
disease_name: CONGENITAL HEART DEFECTS, MULTIPLE TYPES, 2
Phenotype: Sparse anterior scalp hair (HP:0004768)
Associated genes and diseases:
gene_symbol: NSD1
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
gene_symbol: APC2
disease_id: ORPHA:821
disease_name: Sotos syndrome
Cerebral gigantism
Phenotype: Congenital fibrosis of extraocular muscles (HP:0001491)
Associated genes and diseases:
gene_symbol: TUBB2B
disease_id: OMIM:610031
disease_name: CORTICAL DYSPLASIA, COMPLEX, WITH OTHER BRAIN MALFORMATIONS 7
gene_symbol: TUBB2B
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB3
disease_id: ORPHA:300570
disease_name: Cortical dysgenesis with pontocerebellar hypoplasia due to TUBB3 mutation
gene_symbol: TUBB3
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: TUBB3
disease_id: OMIM:600638
disease_name: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 3A, WITH OR WITHOUT EXTRAOCULAR INVOLVEMENT
gene_symbol: PHOX2A
disease_id: OMIM:602078
disease_name: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 2
gene_symbol: PHOX2A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: KIF21A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: KIF21A
disease_id: OMIM:135700
disease_name: FIBROSIS OF EXTRAOCULAR MUSCLES, CONGENITAL, 1
gene_symbol: TUBA1A
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
gene_symbol: COL25A1
disease_id: ORPHA:45358
disease_name: Congenital fibrosis of extraocular muscles
FEOM
Phenotype: Axenfeld anomaly (HP:0001492)
Associated genes and diseases:
gene_symbol: ZEB2
disease_id: ORPHA:261537
disease_name: Mowat-Wilson syndrome due to monosomy 2q22
Hirschsprung disease and intellectual disability due to 2q22 microdeletion
Hirschsprung disease and intellectual disability due to del(2)(q22)
Hirschsprung disease and intellectual disability due to monosomy 2q22
Mowat-Wilson syndrome due to 2q22 microdeletion
Mowat-Wilson syndrome due to del(2)q(22)
gene_symbol: ZEB2
disease_id: ORPHA:261552
disease_name: Mowat-Wilson syndrome due to a ZEB2 point mutation
Hirschsprung disease and intellectual disability due to a ZEB2 point mutation
gene_symbol: JAG1
disease_id: OMIM:118450
disease_name: ALAGILLE SYNDROME 1
gene_symbol: FOXC1
disease_id: OMIM:601631
disease_name: ANTERIOR SEGMENT DYSGENESIS 3
gene_symbol: SLC38A8
disease_id: OMIM:609218
disease_name: FOVEAL HYPOPLASIA 2
Phenotype: Carpal osteolysis (HP:0001495)
Associated genes and diseases:
gene_symbol: MMP2
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: MMP2
disease_id: OMIM:259600
disease_name: MULTICENTRIC OSTEOLYSIS, NODULOSIS, AND ARTHROPATHY
gene_symbol: MMP14
disease_id: ORPHA:371428
disease_name: Multicentric osteolysis-nodulosis-arthropathy spectrum
MONA spectrum
NAO syndrome
Nodulosis-arthropathy-osteolysis syndrome
Torg-Winchester syndrome
gene_symbol: MMP14
disease_id: OMIM:277950
disease_name: WINCHESTER SYNDROME
gene_symbol: MAFB
disease_id: OMIM:166300
disease_name: MULTICENTRIC CARPOTARSAL OSTEOLYSIS SYNDROME
gene_symbol: MAFB
disease_id: ORPHA:2774
disease_name: Multicentric carpo-tarsal osteolysis with or without nephropathy
Idiopathic multicentric osteolysis with or without nephropathy
Phenotype: Reduced erythrocyte gamma-glutamyl cysteine synthetase activity (HP:6000132)
Associated genes and diseases:
gene_symbol: GCLC
disease_id: OMIM:230450
disease_name: GAMMA-GLUTAMYLCYSTEINE SYNTHETASE DEFICIENCY, HEMOLYTIC ANEMIA DUE TO
Phenotype: Elevated urinary indican level (HP:6000130)
Associated genes and diseases:
gene_symbol: SLC6A19
disease_id: ORPHA:2116
disease_name: Hartnup disease
Aminoaciduria, Hartnup type
Hartnup disorder
gene_symbol: CLTRN
disease_id: ORPHA:2116
disease_name: Hartnup disease
Aminoaciduria, Hartnup type
Hartnup disorder
Phenotype: Decreased erythrocyte nicotinamide adenine dinucleotide-cytochrome b5 reductase activity (HP:6000133)
Associated genes and diseases:
gene_symbol: CYB5R3
disease_id: OMIM:250800
disease_name: METHEMOGLOBINEMIA DUE TO DEFICIENCY OF METHEMOGLOBIN REDUCTASE
Phenotype: Reduced alpha-methylacyl-CoA racemase activity in cultured fibroblasts (HP:6000134)
Associated genes and diseases:
gene_symbol: AMACR
disease_id: OMIM:614307
disease_name: ALPHA-METHYLACYL-CoA RACEMASE DEFICIENCY
Phenotype: Splinter hemorrhages (HP:6000139)
Associated genes and diseases:
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: Premature graying of body hair (HP:0004771)
Associated genes and diseases:
gene_symbol: DSTYK
disease_id: OMIM:270750
disease_name: SPASTIC PARAPLEGIA 23, AUTOSOMAL RECESSIVE
Phenotype: Brittle scalp hair (HP:0004779)
Associated genes and diseases:
gene_symbol: GJB6
disease_id: ORPHA:189
disease_name: Hidrotic ectodermal dysplasia
Clouston syndrome
gene_symbol: SPINK5
disease_id: OMIM:256500
disease_name: NETHERTON SYNDROME
Phenotype: Elevated methylhex-dienedioic level by MRS (HP:6000147)
Associated genes and diseases:
gene_symbol: FDFT1
disease_id: OMIM:618156
disease_name: SQUALENE SYNTHASE DEFICIENCY
Phenotype: Reduced muscle phosphorylase kinase activity (HP:6000198)
Associated genes and diseases:
gene_symbol: PHKA1
disease_id: ORPHA:715
disease_name: Glycogen storage disease due to muscle phosphorylase kinase deficiency
GSD due to muscle phosphorylase kinase deficiency
GSD type 9D
GSD type 9E
GSD type IXd
GSD type IXe
Glycogen storage disease type 9D
Glycogen storage disease type 9E
Glycogen storage disease type IXd
Glycogen storage disease type IXe
Glycogenosis due to muscle phosphorylase kinase deficiency
Glycogenosis type 9D
Glycogenosis type 9E
Glycogenosis type IXd
Glycogenosis type IXe
gene_symbol: PHKA1
disease_id: OMIM:300559
disease_name: GLYCOGEN STORAGE DISEASE, TYPE IXd
gene_symbol: PHKG1
disease_id: ORPHA:715
disease_name: Glycogen storage disease due to muscle phosphorylase kinase deficiency
GSD due to muscle phosphorylase kinase deficiency
GSD type 9D
GSD type 9E
GSD type IXd
GSD type IXe
Glycogen storage disease type 9D
Glycogen storage disease type 9E
Glycogen storage disease type IXd
Glycogen storage disease type IXe
Glycogenosis due to muscle phosphorylase kinase deficiency
Glycogenosis type 9D
Glycogenosis type 9E
Glycogenosis type IXd
Glycogenosis type IXe
Phenotype: Reduced 3-beta-hydroxysteroid-delta-5-desaturase activity in cultured fibroblasts (HP:6000199)
Associated genes and diseases:
gene_symbol: SC5D
disease_id: OMIM:607330
disease_name: LATHOSTEROLOSIS
Phenotype: Elbow hypertrichosis (HP:0004780)
Associated genes and diseases:
gene_symbol: PGM2L1
disease_id: OMIM:620191
disease_name: NEURODEVELOPMENTAL DISORDER WITH HYPOTONIA, DYSMORPHIC FACIES, AND SKIN ABNORMALITIES
gene_symbol: KMT2A
disease_id: OMIM:605130
disease_name: WIEDEMANN-STEINER SYNDROME
Phenotype: Duodenal polyposis (HP:0004783)
Associated genes and diseases:
gene_symbol: BMPR1A
disease_id: ORPHA:329971
disease_name: Generalized juvenile polyposis/juvenile polyposis coli
gene_symbol: SMAD4
disease_id: ORPHA:329971
disease_name: Generalized juvenile polyposis/juvenile polyposis coli
gene_symbol: ENG
disease_id: ORPHA:329971
disease_name: Generalized juvenile polyposis/juvenile polyposis coli
gene_symbol: APC
disease_id: ORPHA:220460
disease_name: Attenuated familial adenomatous polyposis
AFAP
Attenuated FAP
Attenuated familial polyposis coli
gene_symbol: APC
disease_id: OMIM:175100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 1
gene_symbol: APC
disease_id: ORPHA:261584
disease_name: Familial adenomatous polyposis due to 5q22.2 microdeletion
Colorectal adenomatous polyposis due to monosomy 5q22.2
FAP due to monosomy 5q22.2
Familial adenomatous polyposis due to del(5)(q22.2)
Familial adenomatous polyposis due to monosomy 5q22.2
Familial polyposis coli due to monosomy 5q22.2
gene_symbol: MSH3
disease_id: OMIM:617100
disease_name: FAMILIAL ADENOMATOUS POLYPOSIS 4
Phenotype: Juvenile gastrointestinal polyposis (HP:0004784)
Associated genes and diseases:
gene_symbol: MSH3
disease_id: ORPHA:480536
disease_name: MSH3-related attenuated familial adenomatous polyposis
MSH3-related AFAP
MSH3-related attenuated FAP
MSH3-related attenuated familial polyposis coli
gene_symbol: SMAD4
disease_id: OMIM:175050
disease_name: JUVENILE POLYPOSIS/HEREDITARY HEMORRHAGIC TELANGIECTASIA SYNDROME
Phenotype: Malrotation of colon (HP:0004785)
Associated genes and diseases:
gene_symbol: TFAP2A
disease_id: OMIM:113620
disease_name: BRANCHIOOCULOFACIAL SYNDROME
gene_symbol: MED12
disease_id: ORPHA:93932
disease_name: FG syndrome type 1
Opitz-Kaveggia syndrome
gene_symbol: NIPBL
disease_id: OMIM:122470
disease_name: CORNELIA DE LANGE SYNDROME 1
gene_symbol: FLNB
disease_id: ORPHA:1190
disease_name: Atelosteogenesis type I
AO1
AOI
Atelosteogenesis type 1
Giant cell chondrodysplasia
Spondylo-humero-femoral dysplasia
Phenotype: Fulminant hepatitis (HP:0004787)
Associated genes and diseases:
gene_symbol: IL18BP
disease_id: OMIM:618549
disease_name: HEPATITIS, FULMINANT VIRAL, SUSCEPTIBILITY TO
gene_symbol: KRT18
disease_id: OMIM:215600
disease_name: CIRRHOSIS, FAMILIAL
gene_symbol: SH2D1A
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
gene_symbol: XIAP
disease_id: OMIM:308240
disease_name: LYMPHOPROLIFERATIVE SYNDROME, X-LINKED, 1
Phenotype: Lactose intolerance (HP:0004789)
Associated genes and diseases:
gene_symbol: MTOR
disease_id: ORPHA:457485
disease_name: Macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome
MINDS syndrome
Smith-Kingsmore syndrome
gene_symbol: PGM3
disease_id: ORPHA:443811
disease_name: PGM3-CDG
CID due to PGM3 deficiency
Combined immunodeficiency due to PGM3 deficiency
PGM3-related congenital disorder of glycosylation
gene_symbol: SATB1
disease_id: OMIM:619229
disease_name: KOHLSCHUTTER-TONZ SYNDROME-LIKE
gene_symbol: LCT
disease_id: OMIM:223000
disease_name: LACTASE DEFICIENCY, CONGENITAL
gene_symbol: MCM6
disease_id: OMIM:223100
disease_name: LACTOSE INTOLERANCE, ADULT TYPE
Phenotype: Absent otoacoustic emissions (HP:6000182)
Associated genes and diseases:
gene_symbol: TRMT10C
disease_id: OMIM:616974
disease_name: COMBINED OXIDATIVE PHOSPHORYLATION DEFICIENCY 30
Phenotype: Filum terminale lipoma (HP:6000184)
Associated genes and diseases:
gene_symbol: TRAPPC14
disease_id: OMIM:618351
disease_name: MICROCEPHALY 25, PRIMARY, AUTOSOMAL RECESSIVE
Phenotype: Low tetrahydrocortisol (THF) plus 5-alpha-THF/tetrahydrocortisone (THE) ratio (HP:6000185)
Associated genes and diseases:
gene_symbol: HSD11B1
disease_id: OMIM:614662
disease_name: CORTISONE REDUCTASE DEFICIENCY 2
Phenotype: Abnormal seminal vesicle morphology (HP:6000190)
Associated genes and diseases:
gene_symbol: ADGRG2
disease_id: ORPHA:48
disease_name: Congenital bilateral absence of vas deferens
Congenital bilateral agenesis of vas deferens
Congenital bilateral aplasia of vas deferens
gene_symbol: CFTR
disease_id: ORPHA:48
disease_name: Congenital bilateral absence of vas deferens
Congenital bilateral agenesis of vas deferens
Congenital bilateral aplasia of vas deferens
Phenotype: Esophageal ulceration (HP:0004791)
Associated genes and diseases:
gene_symbol: ASCC1
disease_id: OMIM:614266
disease_name: BARRETT ESOPHAGUS
gene_symbol: CTHRC1
disease_id: OMIM:614266
disease_name: BARRETT ESOPHAGUS
gene_symbol: MSR1
disease_id: OMIM:614266
disease_name: BARRETT ESOPHAGUS
gene_symbol: MMP1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: COL7A1
disease_id: ORPHA:79408
disease_name: Autosomal recessive generalized dystrophic epidermolysis bullosa, severe form
Autosomal recessive dystrophic epidermolysis bullosa generalisata gravis
Autosomal recessive dystrophic epidermolysis bullosa, Hallopeau-Siemens type
Generalized RDEB, severe form
RDEB generalisata gravis
RDEB, Hallopeau-Siemens type
Severe generalized RDEB
gene_symbol: STAT3
disease_id: OMIM:147060
disease_name: HYPER-IgE RECURRENT INFECTION SYNDROME 1, AUTOSOMAL DOMINANT
gene_symbol: PLA2G4A
disease_id: OMIM:618372
disease_name: GASTROINTESTINAL ULCERATION, RECURRENT, WITH DYSFUNCTIONAL PLATELETS
Phenotype: Rectoperineal fistula (HP:0004792)
Associated genes and diseases:
gene_symbol: CDK8
disease_id: OMIM:618748
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH HYPOTONIA AND BEHAVIORAL ABNORMALITIES
gene_symbol: SALL1
disease_id: OMIM:107480
disease_name: TOWNES-BROCKS SYNDROME 1
gene_symbol: SALL1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
gene_symbol: DACT1
disease_id: ORPHA:857
disease_name: Townes-Brocks syndrome
Imperforate anus-hand, foot and ear anomalies syndrome
REAR syndrome
Renal-ear-anal-radial syndrome
Sensorineural deafness with imperforate anus and hypoplastic thumbs
Sensorineural hearing loss with imperforate anus and hypoplastic thumbs
TBS
Townes syndrome
Phenotype: Malrotation of small bowel (HP:0004794)
Associated genes and diseases:
gene_symbol: CHST14
disease_id: ORPHA:2953
disease_name: Musculocontractural Ehlers-Danlos syndrome
Adducted thumb-clubfoot syndrome
Distal arthrogryposis with peculiar facies and hydronephrosis
Dündar syndrome
Ehlers-Danlos syndrome, Kosho type
Musculocontractural EDS
mcEDS
gene_symbol: DSE
disease_id: ORPHA:2953
disease_name: Musculocontractural Ehlers-Danlos syndrome
Adducted thumb-clubfoot syndrome
Distal arthrogryposis with peculiar facies and hydronephrosis
Dündar syndrome
Ehlers-Danlos syndrome, Kosho type
Musculocontractural EDS
mcEDS
gene_symbol: KAT6B
disease_id: OMIM:606170
disease_name: GENITOPATELLAR SYNDROME
gene_symbol: WNT4
disease_id: ORPHA:139466
disease_name: SERKAL syndrome
Sex reversion-kidneys, adrenal and lung dysgenesis syndrome
gene_symbol: NSD2
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CPLX1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: CTBP1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: FGFRL1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
gene_symbol: LETM1
disease_id: OMIM:194190
disease_name: WOLF-HIRSCHHORN SYNDROME
Phenotype: Hamartomatous stomach polyps (HP:0004795)
Associated genes and diseases:
gene_symbol: PTCH1
disease_id: OMIM:109400
disease_name: BASAL CELL NEVUS SYNDROME
Phenotype: Abnormal CSF homovanillic acid concentration (HP:0034200)
Associated genes and diseases:
gene_symbol: GCH1
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: NR4A2
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: NR4A2
disease_id: OMIM:619911
disease_name: INTELLECTUAL DEVELOPMENTAL DISORDER WITH LANGUAGE IMPAIRMENT AND EARLY-ONSET DOPA-RESPONSIVE DYSTONIA-PARKINSONISM
gene_symbol: IMPDH2
disease_id: ORPHA:98808
disease_name: Autosomal dominant dopa-responsive dystonia
Autosomal dominant Segawa syndrome
DYT5a
GTPCH1-deficient DRD
GTPCH1-deficient dopa-responsive dystonia
HPD with marked diurnal fluctuation
Hereditary progressive dystonia with marked diurnal fluctuation
gene_symbol: TH
disease_id: OMIM:605407
disease_name: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE
gene_symbol: TH
disease_id: ORPHA:101150
disease_name: Autosomal recessive dopa-responsive dystonia
Autosomal recessive Segawa syndrome
DYT5b
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
gene_symbol: PNPO
disease_id: ORPHA:79096
disease_name: Pyridoxal phosphate-responsive seizures
PNPO deficiency
PNPO-related neonatal epileptic encephalopathy
Pyridoxal phosphate-dependent seizures
Pyridoxamine 5'-oxidase deficiency
Pyridoxamine 5'-phosphate oxidase deficiency
gene_symbol: PNPO
disease_id: OMIM:610090
disease_name: PYRIDOXAMINE 5-PRIME-PHOSPHATE OXIDASE DEFICIENCY
gene_symbol: PTS
disease_id: OMIM:261640
disease_name: HYPERPHENYLALANINEMIA, BH4-DEFICIENT, A
gene_symbol: DDC
disease_id: OMIM:608643
disease_name: AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY
gene_symbol: DDC
disease_id: ORPHA:35708
disease_name: Aromatic L-amino acid decarboxylase deficiency
AADC deficiency
gene_symbol: TSPOAP1
disease_id: ORPHA:101150
disease_name: Autosomal recessive dopa-responsive dystonia
Autosomal recessive Segawa syndrome
DYT5b
Tyrosine hydroxylase deficiency
Tyrosine hydroxylase-deficient dopa-responsive dystonia
gene_symbol: NGLY1
disease_id: ORPHA:404454
disease_name: Alacrimia-choreoathetosis-liver dysfunction syndrome
NGLY1 deficiency
NGLY1-CDDG
gene_symbol: SLC6A3
disease_id: OMIM:613135
disease_name: PARKINSONISM-DYSTONIA, INFANTILE, 1
Phenotype: Increased CSF homovanillic acid concentration (HP:0034201)
Associated genes and diseases:
gene_symbol: SLC6A3
disease_id: OMIM:613135
disease_name: PARKINSONISM-DYSTONIA, INFANTILE, 1
Phenotype: Abnormal iduronate sulfatase concentration (HP:0034202)
Associated genes and diseases:
gene_symbol: GNPTG
disease_id: OMIM:252605
disease_name: MUCOLIPIDOSIS III GAMMA
gene_symbol: GNPTAB
disease_id: OMIM:252600
disease_name: MUCOLIPIDOSIS III ALPHA/BETA
gene_symbol: GNPTAB
disease_id: OMIM:252500
disease_name: MUCOLIPIDOSIS II ALPHA/BETA
gene_symbol: IDS
disease_id: OMIM:309900
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE II
Phenotype: Decreased iduronate sulfatase level (HP:0034203)
Associated genes and diseases:
gene_symbol: IDS
disease_id: OMIM:309900
disease_name: MUCOPOLYSACCHARIDOSIS, TYPE II