TaoMedAI/RareMedData huggingface dataset:
Gene: TYR
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: TYR
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: OCA1A; Oculocutaneous albinism type 1A; Tyrosinase-negative oculocutaneous albinism (ORPHA:79431)
Gene: TYR
Phenotype: Hypopigmentation of hair (HP:0005599)
Associated disease: Yellow oculocutaneous albinism; Oculocutaneous albinism, Amish type; Oculocutaneous albinism type 1B; Platinum oculocutaneous albinism; OCA1B (ORPHA:79434)
Gene: TYR
Phenotype: Nystagmus (HP:0000639)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)
Gene: TYR
Phenotype: Nystagmus (HP:0000639)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (OMIM:606952)
Gene: TYR
Phenotype: Nystagmus (HP:0000639)
Associated disease: OCA1A; Oculocutaneous albinism type 1A; Tyrosinase-negative oculocutaneous albinism (ORPHA:79431)
Gene: TYR
Phenotype: Nystagmus (HP:0000639)
Associated disease: Yellow oculocutaneous albinism; Oculocutaneous albinism, Amish type; Oculocutaneous albinism type 1B; Platinum oculocutaneous albinism; OCA1B (ORPHA:79434)
Gene: TYR
Phenotype: Blue irides (HP:0000635)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)
Gene: TYR
Phenotype: Abnormality of visual evoked potentials (HP:0000649)
Associated disease: OCA1A; Oculocutaneous albinism type 1A; Tyrosinase-negative oculocutaneous albinism (ORPHA:79431)
Gene: TYR
Phenotype: Photophobia (HP:0000613)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)
Gene: TYR
Phenotype: Photophobia (HP:0000613)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (OMIM:606952)
Gene: TYR
Phenotype: Photophobia (HP:0000613)
Associated disease: OCA1A; Oculocutaneous albinism type 1A; Tyrosinase-negative oculocutaneous albinism (ORPHA:79431)
Gene: TYR
Phenotype: Photophobia (HP:0000613)
Associated disease: Yellow oculocutaneous albinism; Oculocutaneous albinism, Amish type; Oculocutaneous albinism type 1B; Platinum oculocutaneous albinism; OCA1B (ORPHA:79434)
Gene: TYR
Phenotype: White hair (HP:0011364)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)
Gene: TYR
Phenotype: Abnormality of the pulmonary artery (HP:0004414)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: TYR
Phenotype: Melanocytic nevus (HP:0000995)
Associated disease: Yellow oculocutaneous albinism; Oculocutaneous albinism, Amish type; Oculocutaneous albinism type 1B; Platinum oculocutaneous albinism; OCA1B (ORPHA:79434)
Gene: TYR
Phenotype: Hyperkeratosis (HP:0000962)
Associated disease: OCA1A; Oculocutaneous albinism type 1A; Tyrosinase-negative oculocutaneous albinism (ORPHA:79431)
Gene: TYR
Phenotype: Abnormality of retinal pigmentation (HP:0007703)
Associated disease: Yellow oculocutaneous albinism; Oculocutaneous albinism, Amish type; Oculocutaneous albinism type 1B; Platinum oculocutaneous albinism; OCA1B (ORPHA:79434)
Gene: TYR
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)
Gene: TYR
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: OCA1A; Oculocutaneous albinism type 1A; Tyrosinase-negative oculocutaneous albinism (ORPHA:79431)
Gene: TYR
Phenotype: Hypoplasia of the fovea (HP:0007750)
Associated disease: Yellow oculocutaneous albinism; Oculocutaneous albinism, Amish type; Oculocutaneous albinism type 1B; Platinum oculocutaneous albinism; OCA1B (ORPHA:79434)
Gene: TYR
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: OCA1A; Oculocutaneous albinism type 1A; Tyrosinase-negative oculocutaneous albinism (ORPHA:79431)
Gene: TYR
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Yellow oculocutaneous albinism; Oculocutaneous albinism, Amish type; Oculocutaneous albinism type 1B; Platinum oculocutaneous albinism; OCA1B (ORPHA:79434)
Gene: TYR
Phenotype: Melanoma (HP:0002861)
Associated disease: Yellow oculocutaneous albinism; Oculocutaneous albinism, Amish type; Oculocutaneous albinism type 1B; Platinum oculocutaneous albinism; OCA1B (ORPHA:79434)
Gene: TYR
Phenotype: Hypopigmentation of the fundus (HP:0007894)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (OMIM:606952)
Gene: TYR
Phenotype: Hearing impairment (HP:0000365)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: TYR
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: TYR
Phenotype: Astigmatism (HP:0000483)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)
Gene: TYR
Phenotype: Strabismus (HP:0000486)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)
Gene: TYR
Phenotype: Strabismus (HP:0000486)
Associated disease: Yellow oculocutaneous albinism; Oculocutaneous albinism, Amish type; Oculocutaneous albinism type 1B; Platinum oculocutaneous albinism; OCA1B (ORPHA:79434)
Gene: TYR
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: OCA1A; Oculocutaneous albinism type 1A; Tyrosinase-negative oculocutaneous albinism (ORPHA:79431)
Gene: TYR
Phenotype: Squamous cell carcinoma of the skin (HP:0006739)
Associated disease: Yellow oculocutaneous albinism; Oculocutaneous albinism, Amish type; Oculocutaneous albinism type 1B; Platinum oculocutaneous albinism; OCA1B (ORPHA:79434)
Gene: TYR
Phenotype: Telecanthus (HP:0000506)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: TYR
Phenotype: Ptosis (HP:0000508)
Associated disease: Waardenburg syndrome type II; WS2; Waardenburg syndrome type 2 (ORPHA:895)
Gene: TYR
Phenotype: Visual impairment (HP:0000505)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)
Gene: TYR
Phenotype: Visual impairment (HP:0000505)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IB (OMIM:606952)
Gene: TYR
Phenotype: Visual impairment (HP:0000505)
Associated disease: OCA1A; Oculocutaneous albinism type 1A; Tyrosinase-negative oculocutaneous albinism (ORPHA:79431)
Gene: TYR
Phenotype: Visual impairment (HP:0000505)
Associated disease: Yellow oculocutaneous albinism; Oculocutaneous albinism, Amish type; Oculocutaneous albinism type 1B; Platinum oculocutaneous albinism; OCA1B (ORPHA:79434)
Gene: TYR
Phenotype: Exotropia (HP:0000577)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)
Gene: TYR
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: OCA1A; Oculocutaneous albinism type 1A; Tyrosinase-negative oculocutaneous albinism (ORPHA:79431)
Gene: TYR
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: Yellow oculocutaneous albinism; Oculocutaneous albinism, Amish type; Oculocutaneous albinism type 1B; Platinum oculocutaneous albinism; OCA1B (ORPHA:79434)
Gene: TYR
Phenotype: Abnormality of refraction (HP:0000539)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)
Gene: TYR
Phenotype: Myopia (HP:0000545)
Associated disease: ALBINISM, OCULOCUTANEOUS, TYPE IA (OMIM:203100)
Gene: TYROBP
Phenotype: Abnormality of the hand (HP:0001155)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Acute leukemia (HP:0002488)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Primitive reflex (HP:0002476)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Reduced subcutaneous adipose tissue (HP:0003758)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Cranial nerve compression (HP:0001293)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Gait disturbance (HP:0001288)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Seizure (HP:0001250)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Seizure (HP:0001250)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Hypotonia (HP:0001252)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Intellectual disability (HP:0001249)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Global developmental delay (HP:0001263)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Spasticity (HP:0001257)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Spasticity (HP:0001257)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Waddling gait (HP:0002515)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Cerebral calcification (HP:0002514)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Bone cyst (HP:0012062)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Bone cyst (HP:0012062)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Limitation of joint mobility (HP:0001376)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Urinary incontinence (HP:0000020)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Sclerosis of skull base (HP:0002694)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Postnatal growth retardation (HP:0008897)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Epiphyseal dysplasia (HP:0002656)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Muscle weakness (HP:0001324)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Coxa valga (HP:0002673)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Myoclonus (HP:0001336)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Skeletal dysplasia (HP:0002652)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Bone pain (HP:0002653)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Scoliosis (HP:0002650)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Neonatal respiratory distress (HP:0002643)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Narrowing of medullary canal (HP:0032458)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Prominent lesser trochanter (HP:6000816)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Bifid uvula (HP:0000193)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Cleft palate (HP:0000175)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Pathologic fracture (HP:0002756)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Hypoplasia of the corpus callosum (HP:0002079)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Chorea (HP:0002072)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Cerebral atrophy (HP:0002059)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Easy fatigability (HP:0003388)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Monkey wrench femoral neck (HP:0033102)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Abnormal epiphysis morphology (HP:0005930)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Babinski sign (HP:0003487)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Ventriculomegaly (HP:0002119)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Axonal loss (HP:0003447)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Basal ganglia calcification (HP:0002135)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Abnormal upper motor neuron morphology (HP:0002127)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Apraxia (HP:0002186)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Abnormal speech pattern (HP:0002167)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Gliosis (HP:0002171)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Disturbed sensory perception (HP:0010524)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Severe short stature (HP:0003510)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Developmental regression (HP:0002376)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Caudate atrophy (HP:0002340)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: EEG abnormality (HP:0002353)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Memory impairment (HP:0002354)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Memory impairment (HP:0002354)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Leukoencephalopathy (HP:0002352)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Headache (HP:0002315)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Knee dislocation (HP:0004976)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Short phalanx of finger (HP:0009803)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Limb pain (HP:0009763)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Juvenile onset (HP:0003621)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Bone marrow hypocellularity (HP:0005528)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Euphoria (HP:0031844)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Advanced ossification of carpal bones (HP:0004233)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Out-toeing (HP:6001056)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Diplopia (HP:0000651)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Truncal obesity (HP:0001956)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Anemia (HP:0001903)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Short metacarpal (HP:0010049)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Dental crowding (HP:0000678)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Oculomotor apraxia (HP:0000657)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Carious teeth (HP:0000670)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Broad thumb (HP:0011304)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Hypodontia (HP:0000668)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Synophrys (HP:0000664)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Lateral ventricle dilatation (HP:0006956)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Poor appetite (HP:0004396)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Diaphyseal sclerosis (HP:0003034)
Associated disease: CAMURATI-ENGELMANN DISEASE (OMIM:131300)
Gene: TYROBP
Phenotype: Radial head subluxation (HP:0003048)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Metaphyseal widening (HP:0003016)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Short long bone (HP:0003026)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Delayed ability to walk (HP:0031936)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Reduced bone mineral density (HP:0004349)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Lack of insight (HP:0000757)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Personality changes (HP:0000751)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Personality changes (HP:0000751)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Pectus excavatum (HP:0000767)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Pectus carinatum (HP:0000768)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Cutaneous syndactyly (HP:0012725)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Irritability (HP:0000737)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Disinhibition (HP:0000734)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Disinhibition (HP:0000734)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Delayed speech and language development (HP:0000750)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Functional abnormality of the gastrointestinal tract (HP:0012719)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Inappropriate behavior (HP:0000719)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Aggressive behavior (HP:0000718)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Frontal lobe dementia (HP:0000727)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Frontal lobe dementia (HP:0000727)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Dementia (HP:0000726)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Atypical behavior (HP:0000708)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Young adult onset (HP:0011462)
Associated disease: POLYCYSTIC LIPOMEMBRANOUS OSTEODYSPLASIA WITH SCLEROSING LEUKOENCEPHALOPATHY 1 (OMIM:221770)
Gene: TYROBP
Phenotype: Fetal onset (HP:0011461)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Abnormal adipose tissue morphology (HP:0009124)
Associated disease: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy; PLOSL; NHD; PLO-SL; Nasu-Hakola disease (ORPHA:2770)
Gene: TYROBP
Phenotype: Narrow chest (HP:0000774)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)
Gene: TYROBP
Phenotype: Platyspondyly (HP:0000926)
Associated disease: DESBUQUOIS DYSPLASIA 2 (OMIM:615777)