TaoMedAI/RareMedData huggingface dataset:
Gene: TH
Phenotype: Generalized hypotonia (HP:0001290)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Motor delay (HP:0001270)
Associated disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Gene: TH
Phenotype: Motor delay (HP:0001270)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Lethargy (HP:0001254)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Intellectual disability, mild (HP:0001256)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Hypotonia (HP:0001252)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Ataxia (HP:0001251)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Parkinsonism with favorable response to dopaminergic medication (HP:0002548)
Associated disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Gene: TH
Phenotype: Variable expressivity (HP:0003828)
Associated disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Gene: TH
Phenotype: Brisk reflexes (HP:0001348)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Gene: TH
Phenotype: Tremor (HP:0001337)
Associated disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Gene: TH
Phenotype: Myoclonus (HP:0001336)
Associated disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Gene: TH
Phenotype: Myoclonus (HP:0001336)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Parkinsonism (HP:0001300)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Parkinsonism (HP:0001300)
Associated disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Gene: TH
Phenotype: Axial hypotonia (HP:0008936)
Associated disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Gene: TH
Phenotype: Constipation (HP:0002019)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Bradykinesia (HP:0002067)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Gait ataxia (HP:0002066)
Associated disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Gene: TH
Phenotype: Gait ataxia (HP:0002066)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Rigidity (HP:0002063)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Rigidity (HP:0002063)
Associated disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Gene: TH
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Abnormality of extrapyramidal motor function (HP:0002071)
Associated disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Gene: TH
Phenotype: Babinski sign (HP:0003487)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Postural tremor (HP:0002174)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Oculogyric crisis (HP:0010553)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Infantile onset (HP:0003593)
Associated disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Gene: TH
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Lower limb hyperreflexia (HP:0002395)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Hypokinesia (HP:0002375)
Associated disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Gene: TH
Phenotype: Hypokinesia (HP:0002375)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Fever (HP:0001945)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Focal dystonia (HP:0004373)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Irritability (HP:0000737)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Gene: TH
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Mask-like facies (HP:0000298)
Associated disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Gene: TH
Phenotype: Night sweats (HP:0030166)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Talipes equinovarus (HP:0001762)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Pes cavus (HP:0001761)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: TH
Phenotype: Ptosis (HP:0000508)
Associated disease: SEGAWA SYNDROME, AUTOSOMAL RECESSIVE (OMIM:605407)
Gene: TH
Phenotype: Ptosis (HP:0000508)
Associated disease: DYT5b; Tyrosine hydroxylase deficiency; Autosomal recessive dopa-responsive dystonia; Tyrosine hydroxylase-deficient dopa-responsive dystonia; Autosomal recessive Segawa syndrome (ORPHA:101150)
Gene: THBD
Phenotype: Proteinuria (HP:0000093)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 (OMIM:612926)
Gene: THBD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 (OMIM:612926)
Gene: THBD
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT (OMIM:614486)
Gene: THBD
Phenotype: Deep venous thrombosis (HP:0002625)
Associated disease: THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT (OMIM:614486)
Gene: THBD
Phenotype: Anuria (HP:0100519)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 (OMIM:612926)
Gene: THBD
Phenotype: Adult onset (HP:0003581)
Associated disease: THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT (OMIM:614486)
Gene: THBD
Phenotype: Pulmonary embolism (HP:0002204)
Associated disease: THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT (OMIM:614486)
Gene: THBD
Phenotype: Hypercoagulability (HP:0100724)
Associated disease: THROMBOPHILIA DUE TO THROMBOMODULIN DEFECT (OMIM:614486)
Gene: THBD
Phenotype: Hemolytic-uremic syndrome (HP:0005575)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 (OMIM:612926)
Gene: THBD
Phenotype: Microangiopathic hemolytic anemia (HP:0001937)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 (OMIM:612926)
Gene: THBD
Phenotype: Anemia (HP:0001903)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 (OMIM:612926)
Gene: THBD
Phenotype: Acute kidney injury (HP:0001919)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 (OMIM:612926)
Gene: THBD
Phenotype: Hematuria (HP:0000790)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 (OMIM:612926)
Gene: THBD
Phenotype: Increased blood urea nitrogen (HP:0003138)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 (OMIM:612926)
Gene: THBD
Phenotype: Hypertension (HP:0000822)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 (OMIM:612926)
Gene: THBD
Phenotype: Elevated circulating creatinine concentration (HP:0003259)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 (OMIM:612926)
Gene: THBD
Phenotype: Decreased circulating complement C3 concentration (HP:0005421)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 (OMIM:612926)
Gene: THBD
Phenotype: Thrombocytopenia (HP:0001873)
Associated disease: HEMOLYTIC UREMIC SYNDROME, ATYPICAL, SUSCEPTIBILITY TO, 6 (OMIM:612926)
Gene: THBS2
Phenotype: Joint hypermobility (HP:0001382)
Associated disease:  (OMIM:620865)
Gene: THBS2
Phenotype: Multiple joint dislocation (HP:0012095)
Associated disease:  (OMIM:620865)
Gene: THBS2
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease:  (OMIM:620865)
Gene: THBS2
Phenotype: Abnormal factor VIII activity (HP:0030976)
Associated disease:  (OMIM:620865)
Gene: THBS2
Phenotype: Tendon rupture (HP:0100550)
Associated disease:  (OMIM:620865)
Gene: THBS2
Phenotype: Abnormality of circulating fibrinogen (HP:0011898)
Associated disease:  (OMIM:620865)
Gene: THBS2
Phenotype: Abnormal platelet count (HP:0011873)
Associated disease:  (OMIM:620865)
Gene: THBS2
Phenotype: Thickened mitral valve cusp (HP:6000342)
Associated disease:  (OMIM:620865)
Gene: THBS2
Phenotype: Reduced von Willebrand factor activity (HP:0008330)
Associated disease:  (OMIM:620865)
Gene: THBS2
Phenotype: Atrophic scars (HP:0001075)
Associated disease:  (OMIM:620865)
Gene: THBS2
Phenotype: Abnormal prothrombin time (HP:0032199)
Associated disease:  (OMIM:620865)
Gene: THBS2
Phenotype: Ascending tubular aorta aneurysm (HP:0004970)
Associated disease:  (OMIM:620865)
Gene: THBS2
Phenotype: Prolonged bleeding time (HP:0003010)
Associated disease:  (OMIM:620865)
Gene: THBS2
Phenotype: Bruising susceptibility (HP:0000978)
Associated disease:  (OMIM:620865)
Gene: THBS2
Phenotype: Hyperextensible skin (HP:0000974)
Associated disease:  (OMIM:620865)
Gene: THBS2
Phenotype: Aortic arch aneurysm (HP:0005113)
Associated disease:  (OMIM:620865)
Gene: THBS2
Phenotype: Piezogenic pedal papules (HP:0025509)
Associated disease:  (OMIM:620865)
Gene: THBS2
Phenotype: Cardiomyopathy (HP:0001638)
Associated disease:  (OMIM:620865)
Gene: THBS2
Phenotype: Venous insufficiency (HP:0005293)
Associated disease:  (OMIM:620865)
Gene: TCHH
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: UNCOMBABLE HAIR SYNDROME 3 (OMIM:617252)
Gene: TCHH
Phenotype: Pili canaliculi (HP:0002235)
Associated disease: UNCOMBABLE HAIR SYNDROME 3 (OMIM:617252)
Gene: TCHH
Phenotype: Curly hair (HP:0002212)
Associated disease: UNCOMBABLE HAIR SYNDROME 3 (OMIM:617252)
Gene: TCHH
Phenotype: Brittle hair (HP:0002299)
Associated disease: UNCOMBABLE HAIR SYNDROME 3 (OMIM:617252)
Gene: TCHH
Phenotype: Childhood onset (HP:0011463)
Associated disease: UNCOMBABLE HAIR SYNDROME 3 (OMIM:617252)
Gene: TCHH
Phenotype: Uncombable hair (HP:0030056)
Associated disease: UNCOMBABLE HAIR SYNDROME 3 (OMIM:617252)
Gene: THPO
Phenotype: Visual field defect (HP:0001123)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Syncope (HP:0001279)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Seizure (HP:0001250)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Dysarthria (HP:0001260)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2 (OMIM:620481)
Gene: THPO
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOCYTOPENIA 9 (OMIM:620478)
Gene: THPO
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Gene: THPO
Phenotype: Cerebral ischemia (HP:0002637)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Scoliosis (HP:0002650)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: THPO
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Elevated circulating alpha-fetoprotein concentration (HP:0006254)
Associated disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2 (OMIM:620481)
Gene: THPO
Phenotype: Abnormal form of the vertebral bodies (HP:0003312)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: THPO
Phenotype: Pulmonary arterial hypertension (HP:0002092)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Impaired epinephrine-induced platelet aggregation (HP:0008148)
Associated disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Gene: THPO
Phenotype: Abnormal hemoglobin (HP:0011902)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: THPO
Phenotype: Paresthesia (HP:0003401)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Infantile onset (HP:0003593)
Associated disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2 (OMIM:620481)
Gene: THPO
Phenotype: Congenital onset (HP:0003577)
Associated disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2 (OMIM:620481)
Gene: THPO
Phenotype: Impaired ADP-induced platelet aggregation (HP:0004866)
Associated disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Gene: THPO
Phenotype: Chest pain (HP:0100749)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Impaired collagen-induced platelet aggregation (HP:0008320)
Associated disease: THROMBOCYTHEMIA 1 (OMIM:187950)
Gene: THPO
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Acute myeloid leukemia (HP:0004808)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Vertigo (HP:0002321)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Headache (HP:0002315)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Transient ischemic attack (HP:0002326)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Venous thrombosis (HP:0004936)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Peripheral arterial stenosis (HP:0004950)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2 (OMIM:620481)
Gene: THPO
Phenotype: Chronic myelogenous leukemia (HP:0005506)
Associated disease: Familial thrombocythemia; Familial thrombocytosis; Hereditary thrombocythemia (ORPHA:71493)
Gene: THPO
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Anemia (HP:0001903)
Associated disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2 (OMIM:620481)
Gene: THPO
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Anemia (HP:0001903)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: THPO
Phenotype: Aplastic anemia (HP:0001915)
Associated disease: AMEGAKARYOCYTIC THROMBOCYTOPENIA, CONGENITAL, 2 (OMIM:620481)
Gene: THPO
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Short stature (HP:0004322)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: THPO
Phenotype: Decreased skull ossification (HP:0004331)
Associated disease: Congenital amegakaryocytic thrombocytopenia; CAMT (ORPHA:3319)
Gene: THPO
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: THPO
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: THPO
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)