TaoMedAI/RareMedData huggingface dataset:
Gene: TALDO1
Phenotype: Depressed nasal bridge (HP:0005280)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Hydrops fetalis (HP:0001789)
Associated disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Gene: TALDO1
Phenotype: Short neck (HP:0000470)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Splenomegaly (HP:0001744)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: Transaldolase deficiency; TALDO deficiency (ORPHA:101028)
Gene: TALDO1
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TALDO1
Phenotype: Pancytopenia (HP:0001876)
Associated disease: TRANSALDOLASE DEFICIENCY (OMIM:606003)
Gene: TAP1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE I (OMIM:604571)
Gene: TAP1
Phenotype: Emphysema (HP:0002097)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE I (OMIM:604571)
Gene: TAP1
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE I (OMIM:604571)
Gene: TAP1
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE I (OMIM:604571)
Gene: TAP1
Phenotype: Bronchiolitis (HP:0011950)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE I (OMIM:604571)
Gene: TAP1
Phenotype: Skin ulcer (HP:0200042)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE I (OMIM:604571)
Gene: TAP1
Phenotype: Ectopia lentis (HP:0001083)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE I (OMIM:604571)
Gene: TAP1
Phenotype: Recurrent bronchitis (HP:0002837)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE I (OMIM:604571)
Gene: TAP1
Phenotype: Chronic otitis media (HP:0000389)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE I (OMIM:604571)
Gene: TAP1
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: BARE LYMPHOCYTE SYNDROME, TYPE I (OMIM:604571)
Gene: TAP2
Phenotype: Cytoplasmic antineutrophil antibody positivity (HP:0032230)
Associated disease: MHC CLASS I DEFICIENCY 2 (OMIM:620813)
Gene: TAP2
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MHC CLASS I DEFICIENCY 2 (OMIM:620813)
Gene: TAP2
Phenotype: Nasal polyposis (HP:0100582)
Associated disease: MHC CLASS I DEFICIENCY 2 (OMIM:620813)
Gene: TAP2
Phenotype: Recurrent infection of the gastrointestinal tract (HP:0004798)
Associated disease: MHC CLASS I DEFICIENCY 2 (OMIM:620813)
Gene: TAP2
Phenotype: Bronchiectasis (HP:0002110)
Associated disease: MHC CLASS I DEFICIENCY 2 (OMIM:620813)
Gene: TAP2
Phenotype: Chronic rhinitis (HP:0002257)
Associated disease: MHC CLASS I DEFICIENCY 2 (OMIM:620813)
Gene: TAP2
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: MHC CLASS I DEFICIENCY 2 (OMIM:620813)
Gene: TAP2
Phenotype: Childhood onset (HP:0011463)
Associated disease: MHC CLASS I DEFICIENCY 2 (OMIM:620813)
Gene: TAP2
Phenotype: Recurrent viral infections (HP:0004429)
Associated disease: MHC CLASS I DEFICIENCY 2 (OMIM:620813)
Gene: TAP2
Phenotype: Chronic bronchitis (HP:0004469)
Associated disease: MHC CLASS I DEFICIENCY 2 (OMIM:620813)
Gene: TAP2
Phenotype: Chronic sinusitis (HP:0011109)
Associated disease: MHC CLASS I DEFICIENCY 2 (OMIM:620813)
Gene: TAP2
Phenotype: Severe viral infection (HP:0031691)
Associated disease: MHC CLASS I DEFICIENCY 2 (OMIM:620813)
Gene: TAPBP
Phenotype: Recurrent shingles (HP:0032275)
Associated disease: MHC CLASS I DEFICIENCY 3 (OMIM:620814)
Gene: TAPBP
Phenotype: Glomerulonephritis (HP:0000099)
Associated disease: MHC CLASS I DEFICIENCY 3 (OMIM:620814)
Gene: TAPBP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MHC CLASS I DEFICIENCY 3 (OMIM:620814)
Gene: TAPBP
Phenotype: Middle age onset (HP:0003596)
Associated disease: MHC CLASS I DEFICIENCY 3 (OMIM:620814)
Gene: TAPBP
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: MHC CLASS I DEFICIENCY 3 (OMIM:620814)
Gene: TARS1
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Abnormality of prenatal development or birth (HP:0001197)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Hypoplasia of mandible relative to maxilla (HP:0410219)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Cerebral dysmyelination (HP:0007266)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Abnormal pyramidal sign (HP:0007256)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Hypertonia (HP:0001276)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Dysarthria (HP:0001260)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Spasticity (HP:0001257)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Low-set nipples (HP:0002562)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Congenital exfoliative erythroderma (HP:0007381)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Clubbing (HP:0001217)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Joint dislocation (HP:0001373)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Craniosynostosis (HP:0001363)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Cryptorchidism (HP:0000028)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Follicular hyperkeratosis (HP:0007502)
Associated disease: TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE (OMIM:618546)
Gene: TARS1
Phenotype: Prematurely aged appearance (HP:0007495)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Absence of subcutaneous fat (HP:0007485)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Congenital nonbullous ichthyosiform erythroderma (HP:0007479)
Associated disease: TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE (OMIM:618546)
Gene: TARS1
Phenotype: Partial agenesis of the corpus callosum (HP:0001338)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE (OMIM:618546)
Gene: TARS1
Phenotype: Bilateral microphthalmos (HP:0007633)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: High, narrow palate (HP:0002705)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Enamel hypoplasia (HP:0006297)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Numerous pigmented freckles (HP:0007587)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Gonadal dysgenesis (HP:0000133)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Delayed skeletal maturation (HP:0002750)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Recurrent infections (HP:0002719)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Intention tremor (HP:0002080)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Gait ataxia (HP:0002066)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Generalized-onset seizure (HP:0002197)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Paraplegia/paraparesis (HP:0010551)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Sparse scalp hair (HP:0002209)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Brittle hair (HP:0002299)
Associated disease: TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE (OMIM:618546)
Gene: TARS1
Phenotype: Brittle hair (HP:0002299)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Alopecia of scalp (HP:0002293)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Generalized hyperreflexia (HP:0007034)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Dystrophic fingernails (HP:0008391)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Aplasia/Hypoplasia of the nails (HP:0008386)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Peripheral neuropathy (HP:0009830)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Keratoconjunctivitis sicca (HP:0001097)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Bronchoconstriction (HP:4000007)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Nystagmus (HP:0000639)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Photophobia (HP:0000613)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Macular degeneration (HP:0000608)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Hypotelorism (HP:0000601)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Anemia (HP:0001903)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Ectropion (HP:0000656)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Carious teeth (HP:0000670)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Periventricular leukomalacia (HP:0006970)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Defective DNA repair after ultraviolet radiation damage (HP:0003079)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Reduced social responsiveness (HP:0012760)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Panhypogammaglobulinemia (HP:0003139)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Tiger tail banding (HP:0045055)
Associated disease: TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE (OMIM:618546)
Gene: TARS1
Phenotype: Tiger tail banding (HP:0045055)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Diffuse cerebellar atrophy (HP:0100275)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE (OMIM:618546)
Gene: TARS1
Phenotype: Cutaneous photosensitivity (HP:0000992)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Dry skin (HP:0000958)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Eczematoid dermatitis (HP:0000964)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Osteopenia (HP:0000938)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: TRICHOTHIODYSTROPHY 7, NONPHOTOSENSITIVE (OMIM:618546)
Gene: TARS1
Phenotype: Ichthyosis (HP:0008064)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Epicanthus (HP:0000286)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Coarse facial features (HP:0000280)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Retrognathia (HP:0000278)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Increased mean corpuscular hemoglobin concentration (HP:0025548)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Concave nail (HP:0001598)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Multiple joint contractures (HP:0002828)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Microcephaly (HP:0000252)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Squamous cell carcinoma (HP:0002860)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Umbilical hernia (HP:0001537)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Intrauterine growth retardation (HP:0001511)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Recurrent bronchopulmonary infections (HP:0006538)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Dysphonia (HP:0001618)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Thoracic kyphosis (HP:0002942)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Increased bone mineral density (HP:0011001)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Bird-like facies (HP:0000320)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Hypertelorism (HP:0000316)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Ventricular septal defect (HP:0001629)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Astigmatism (HP:0000483)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Strabismus (HP:0000486)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Microcornea (HP:0000482)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Protruding ear (HP:0000411)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Developmental cataract (HP:0000519)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Conjunctivitis (HP:0000509)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Split nail (HP:0001809)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Fragile nails (HP:0001808)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Ridged nail (HP:0001807)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Esotropia (HP:0000565)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Retinal degeneration (HP:0000546)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Myopia (HP:0000545)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TARS1
Phenotype: Decreased total neutrophil count (HP:0001875)
Associated disease: Trichothiodystrophy (ORPHA:33364)
Gene: TAT
Phenotype: Seizure (HP:0001250)
Associated disease: Tyrosinemia due to TAT deficiency; Tyrosinemia type II; Tyrosinemia type 2; Richner-Hanhart syndrome; Oculocutaneous tyrosinemia; Tyrosinemia due to tyrosine aminotransferase deficiency; Keratosis palmoplantaris-corneal dystrophy syndrome (ORPHA:28378)
Gene: TAT
Phenotype: Ataxia (HP:0001251)
Associated disease: Tyrosinemia due to TAT deficiency; Tyrosinemia type II; Tyrosinemia type 2; Richner-Hanhart syndrome; Oculocutaneous tyrosinemia; Tyrosinemia due to tyrosine aminotransferase deficiency; Keratosis palmoplantaris-corneal dystrophy syndrome (ORPHA:28378)
Gene: TAT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Tyrosinemia due to TAT deficiency; Tyrosinemia type II; Tyrosinemia type 2; Richner-Hanhart syndrome; Oculocutaneous tyrosinemia; Tyrosinemia due to tyrosine aminotransferase deficiency; Keratosis palmoplantaris-corneal dystrophy syndrome (ORPHA:28378)
Gene: TAT
Phenotype: Intellectual disability (HP:0001249)
Associated disease: TYROSINEMIA, TYPE II (OMIM:276600)
Gene: TAT
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: TYROSINEMIA, TYPE II (OMIM:276600)
Gene: TAT
Phenotype: Tremor (HP:0001337)
Associated disease: Tyrosinemia due to TAT deficiency; Tyrosinemia type II; Tyrosinemia type 2; Richner-Hanhart syndrome; Oculocutaneous tyrosinemia; Tyrosinemia due to tyrosine aminotransferase deficiency; Keratosis palmoplantaris-corneal dystrophy syndrome (ORPHA:28378)
Gene: TAT
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Tyrosinemia due to TAT deficiency; Tyrosinemia type II; Tyrosinemia type 2; Richner-Hanhart syndrome; Oculocutaneous tyrosinemia; Tyrosinemia due to tyrosine aminotransferase deficiency; Keratosis palmoplantaris-corneal dystrophy syndrome (ORPHA:28378)
Gene: TAT
Phenotype: Elevated urine N-acetyltyrosine level (HP:6000479)
Associated disease: TYROSINEMIA, TYPE II (OMIM:276600)
Gene: TAT
Phenotype: Nystagmus (HP:0000639)
Associated disease: Tyrosinemia due to TAT deficiency; Tyrosinemia type II; Tyrosinemia type 2; Richner-Hanhart syndrome; Oculocutaneous tyrosinemia; Tyrosinemia due to tyrosine aminotransferase deficiency; Keratosis palmoplantaris-corneal dystrophy syndrome (ORPHA:28378)
Gene: TAT
Phenotype: Photophobia (HP:0000613)
Associated disease: Tyrosinemia due to TAT deficiency; Tyrosinemia type II; Tyrosinemia type 2; Richner-Hanhart syndrome; Oculocutaneous tyrosinemia; Tyrosinemia due to tyrosine aminotransferase deficiency; Keratosis palmoplantaris-corneal dystrophy syndrome (ORPHA:28378)
Gene: TAT
Phenotype: Abnormality of amino acid metabolism (HP:0004337)
Associated disease: Tyrosinemia due to TAT deficiency; Tyrosinemia type II; Tyrosinemia type 2; Richner-Hanhart syndrome; Oculocutaneous tyrosinemia; Tyrosinemia due to tyrosine aminotransferase deficiency; Keratosis palmoplantaris-corneal dystrophy syndrome (ORPHA:28378)
Gene: TAT
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Tyrosinemia due to TAT deficiency; Tyrosinemia type II; Tyrosinemia type 2; Richner-Hanhart syndrome; Oculocutaneous tyrosinemia; Tyrosinemia due to tyrosine aminotransferase deficiency; Keratosis palmoplantaris-corneal dystrophy syndrome (ORPHA:28378)
Gene: TAT
Phenotype: 4-Hydroxyphenylpyruvic aciduria (HP:0003161)
Associated disease: TYROSINEMIA, TYPE II (OMIM:276600)
Gene: TAT
Phenotype: Hypertyrosinemia (HP:0003231)
Associated disease: TYROSINEMIA, TYPE II (OMIM:276600)
Gene: TAT
Phenotype: Hyperhidrosis (HP:0000975)
Associated disease: Tyrosinemia due to TAT deficiency; Tyrosinemia type II; Tyrosinemia type 2; Richner-Hanhart syndrome; Oculocutaneous tyrosinemia; Tyrosinemia due to tyrosine aminotransferase deficiency; Keratosis palmoplantaris-corneal dystrophy syndrome (ORPHA:28378)
Gene: TAT
Phenotype: Palmoplantar keratoderma (HP:0000982)
Associated disease: Tyrosinemia due to TAT deficiency; Tyrosinemia type II; Tyrosinemia type 2; Richner-Hanhart syndrome; Oculocutaneous tyrosinemia; Tyrosinemia due to tyrosine aminotransferase deficiency; Keratosis palmoplantaris-corneal dystrophy syndrome (ORPHA:28378)
Gene: TAT
Phenotype: Abnormality of the skin (HP:0000951)
Associated disease: TYROSINEMIA, TYPE II (OMIM:276600)
Gene: TAT
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: Tyrosinemia due to TAT deficiency; Tyrosinemia type II; Tyrosinemia type 2; Richner-Hanhart syndrome; Oculocutaneous tyrosinemia; Tyrosinemia due to tyrosine aminotransferase deficiency; Keratosis palmoplantaris-corneal dystrophy syndrome (ORPHA:28378)
Gene: TAT
Phenotype: Abnormal nail morphology (HP:0001597)
Associated disease: Tyrosinemia due to TAT deficiency; Tyrosinemia type II; Tyrosinemia type 2; Richner-Hanhart syndrome; Oculocutaneous tyrosinemia; Tyrosinemia due to tyrosine aminotransferase deficiency; Keratosis palmoplantaris-corneal dystrophy syndrome (ORPHA:28378)
Gene: TAT
Phenotype: Malar flattening (HP:0000272)
Associated disease: Tyrosinemia due to TAT deficiency; Tyrosinemia type II; Tyrosinemia type 2; Richner-Hanhart syndrome; Oculocutaneous tyrosinemia; Tyrosinemia due to tyrosine aminotransferase deficiency; Keratosis palmoplantaris-corneal dystrophy syndrome (ORPHA:28378)
Gene: TAT
Phenotype: Microcephaly (HP:0000252)
Associated disease: Tyrosinemia due to TAT deficiency; Tyrosinemia type II; Tyrosinemia type 2; Richner-Hanhart syndrome; Oculocutaneous tyrosinemia; Tyrosinemia due to tyrosine aminotransferase deficiency; Keratosis palmoplantaris-corneal dystrophy syndrome (ORPHA:28378)
Gene: TAT
Phenotype: Growth delay (HP:0001510)
Associated disease: TYROSINEMIA, TYPE II (OMIM:276600)
Gene: TAT
Phenotype: Herpetiform corneal ulceration (HP:0007812)
Associated disease: TYROSINEMIA, TYPE II (OMIM:276600)
Gene: TAT
Phenotype: Corneal opacity (HP:0007957)
Associated disease: Tyrosinemia due to TAT deficiency; Tyrosinemia type II; Tyrosinemia type 2; Richner-Hanhart syndrome; Oculocutaneous tyrosinemia; Tyrosinemia due to tyrosine aminotransferase deficiency; Keratosis palmoplantaris-corneal dystrophy syndrome (ORPHA:28378)
Gene: TAT
Phenotype: Visual loss (HP:0000572)
Associated disease: Tyrosinemia due to TAT deficiency; Tyrosinemia type II; Tyrosinemia type 2; Richner-Hanhart syndrome; Oculocutaneous tyrosinemia; Tyrosinemia due to tyrosine aminotransferase deficiency; Keratosis palmoplantaris-corneal dystrophy syndrome (ORPHA:28378)
Gene: TBX1
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: VELOCARDIOFACIAL SYNDROME (OMIM:192430)
Gene: TBX1
Phenotype: Brachydactyly (HP:0001156)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: TBX1
Phenotype: Arachnodactyly (HP:0001166)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Hand polydactyly (HP:0001161)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Retinal arteriolar tortuosity (HP:0001136)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Meningocele (HP:0002435)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Bipolar affective disorder (HP:0007302)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)
Gene: TBX1
Phenotype: Anterior creases of earlobe (HP:0009908)
Associated disease: Trisomy 22q11.2; 22q11.2 microduplication syndrome; Duplication 22q11.2; 22q11.2 duplication syndrome; Dup(22)(q11) (ORPHA:1727)
Gene: TBX1
Phenotype: Underdeveloped supraorbital ridges (HP:0009891)
Associated disease: Tetralogy of Fallot (ORPHA:3303)
Gene: TBX1
Phenotype: Spina bifida (HP:0002414)
Associated disease: 22q11DS; Shprintzen syndrome; DiGeorge sequence; CATCH 22; Conotruncal anomaly face syndrome; Monosomy 22q11; Sedlackova syndrome; Microdeletion 22q11.2; Cayler cardiofacial syndrome; Takao syndrome; DiGeorge syndrome; 22q11.2 deletion syndrome; Velocardiofacial syndrome (ORPHA:567)
Gene: TBX1
Phenotype: Hemiparesis (HP:0001269)
Associated disease: DIGEORGE SYNDROME (OMIM:188400)