TaoMedAI/RareMedData huggingface dataset:
Gene: MYO5A
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Griscelli-Pruniéras syndrome type 1; Hypopigmentation-neurologic impairment syndrome; Griscelli syndrome type 1 (ORPHA:79476)
Gene: MYO5A
Phenotype: Abnormality of movement (HP:0100022)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Cerebral cortical hemiatrophy (HP:0100308)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Large clumps of pigment irregularly distributed along hair shaft (HP:0004527)
Associated disease: GRISCELLI SYNDROME, TYPE 1 (OMIM:214450)
Gene: MYO5A
Phenotype: Aplasia/Hypoplasia of the macula (HP:0008059)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Macular dystrophy (HP:0007754)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Griscelli-Pruniéras syndrome type 1; Hypopigmentation-neurologic impairment syndrome; Griscelli syndrome type 1 (ORPHA:79476)
Gene: MYO5A
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Griscelli-Pruniéras syndrome type 3; Griscelli syndrome type 3 (ORPHA:79478)
Gene: MYO5A
Phenotype: Strabismus (HP:0000486)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Retinopathy (HP:0000488)
Associated disease: Griscelli-Pruniéras syndrome type 1; Hypopigmentation-neurologic impairment syndrome; Griscelli syndrome type 1 (ORPHA:79476)
Gene: MYO5A
Phenotype: Recurrent tonsillitis (HP:0011110)
Associated disease: GRISCELLI SYNDROME, TYPE 1 (OMIM:214450)
Gene: MYO5A
Phenotype: Abnormal optic nerve morphology (HP:0000587)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5A
Phenotype: Myopia (HP:0000545)
Associated disease: Neuroectodermal melanolysosomal disease; Elejalde neuroectodermal melanolysosomal disease (ORPHA:33445)
Gene: MYO5B
Phenotype: Global developmental delay (HP:0001263)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: MYO5B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DIARRHEA 2, WITH MICROVILLUS ATROPHY (OMIM:251850)
Gene: MYO5B
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO5B
Phenotype: Nephrocalcinosis (HP:0000121)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: MYO5B
Phenotype: Diarrhea (HP:0002014)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: MYO5B
Phenotype: Elevated gamma-glutamyltransferase level (HP:0030948)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO5B
Phenotype: Infantile onset (HP:0003593)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO5B
Phenotype: Increased total bilirubin (HP:0003573)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO5B
Phenotype: Abnormal intestine morphology (HP:0002242)
Associated disease: DIARRHEA 2, WITH MICROVILLUS ATROPHY (OMIM:251850)
Gene: MYO5B
Phenotype: Hepatomegaly (HP:0002240)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO5B
Phenotype: Acholic stools (HP:0011985)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO5B
Phenotype: Neonatal onset (HP:0003623)
Associated disease: DIARRHEA 2, WITH MICROVILLUS ATROPHY (OMIM:251850)
Gene: MYO5B
Phenotype: Dehydration (HP:0001944)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: MYO5B
Phenotype: Dehydration (HP:0001944)
Associated disease: DIARRHEA 2, WITH MICROVILLUS ATROPHY (OMIM:251850)
Gene: MYO5B
Phenotype: Metabolic acidosis (HP:0001942)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: MYO5B
Phenotype: Short stature (HP:0004322)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO5B
Phenotype: Elevated circulating aspartate aminotransferase concentration (HP:0031956)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO5B
Phenotype: Elevated circulating alanine aminotransferase concentration (HP:0031964)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO5B
Phenotype: Hypoalbuminemia (HP:0003073)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO5B
Phenotype: Protracted diarrhea (HP:0004385)
Associated disease: DIARRHEA 2, WITH MICROVILLUS ATROPHY (OMIM:251850)
Gene: MYO5B
Phenotype: Malnutrition (HP:0004395)
Associated disease: DIARRHEA 2, WITH MICROVILLUS ATROPHY (OMIM:251850)
Gene: MYO5B
Phenotype: Villous atrophy (HP:0011473)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: MYO5B
Phenotype: Villous atrophy (HP:0011473)
Associated disease: DIARRHEA 2, WITH MICROVILLUS ATROPHY (OMIM:251850)
Gene: MYO5B
Phenotype: Abnormal small intestinal villus morphology (HP:0011472)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: MYO5B
Phenotype: Childhood onset (HP:0011463)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO5B
Phenotype: Hypercholesterolemia (HP:0003124)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO5B
Phenotype: Abdominal distention (HP:0003270)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: MYO5B
Phenotype: Pruritus (HP:0000989)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: MYO5B
Phenotype: Pruritus (HP:0000989)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO5B
Phenotype: Jaundice (HP:0000952)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO5B
Phenotype: Increased serum bile acid concentration (HP:0012202)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO5B
Phenotype: Abnormal renal physiology (HP:0012211)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: MYO5B
Phenotype: Death in infancy (HP:0001522)
Associated disease: DIARRHEA 2, WITH MICROVILLUS ATROPHY (OMIM:251850)
Gene: MYO5B
Phenotype: Failure to thrive (HP:0001508)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO5B
Phenotype: Growth delay (HP:0001510)
Associated disease: DIARRHEA 2, WITH MICROVILLUS ATROPHY (OMIM:251850)
Gene: MYO5B
Phenotype: Portal fibrosis (HP:0006580)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO5B
Phenotype: Conjugated hyperbilirubinemia (HP:0002908)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO5B
Phenotype: Hypovolemia (HP:0011106)
Associated disease: Microvillous inclusion disease; Microvillus inclusion disease; MVID; Congenital microvillous atrophy; Congenital microvillus atrophy (ORPHA:2290)
Gene: MYO5B
Phenotype: Splenomegaly (HP:0001744)
Associated disease: CHOLESTASIS, PROGRESSIVE FAMILIAL INTRAHEPATIC, 10 (OMIM:619868)
Gene: MYO6
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 37 (OMIM:607821)
Gene: MYO6
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 22 (OMIM:606346)
Gene: MYO6
Phenotype: Congenital stationary night blindness (HP:0007642)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 37 (OMIM:607821)
Gene: MYO6
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 37 (OMIM:607821)
Gene: MYO6
Phenotype: Progressive sensorineural hearing impairment (HP:0000408)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 22 (OMIM:606346)
Gene: MYO6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 37 (OMIM:607821)
Gene: MYO6
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 22 (OMIM:606346)
Gene: MYO6
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 37 (OMIM:607821)
Gene: MYO6
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 37 (OMIM:607821)
Gene: MYO7A
Phenotype: Constriction of peripheral visual field (HP:0001133)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MYO7A
Phenotype: Bilateral sensorineural hearing impairment (HP:0008619)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 11 (OMIM:601317)
Gene: MYO7A
Phenotype: Absent vestibular function (HP:0008555)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: MYO7A
Phenotype: Motor delay (HP:0001270)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: MYO7A
Phenotype: Ataxia (HP:0001251)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Ataxia (HP:0001251)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Global developmental delay (HP:0001263)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Aplasia/Hypoplasia of the cerebellum (HP:0007360)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: MYO7A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 2 (OMIM:600060)
Gene: MYO7A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MYO7A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 11 (OMIM:601317)
Gene: MYO7A
Phenotype: Autosomal dominant inheritance (HP:0000006)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MYO7A
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Subcortical cerebral atrophy (HP:0012157)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Undetectable light- and dark-adapted electroretinogram (HP:0007688)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MYO7A
Phenotype: Reduced visual acuity (HP:0007663)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MYO7A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Cerebral cortical atrophy (HP:0002120)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Infantile onset (HP:0003593)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: MYO7A
Phenotype: Congenital onset (HP:0003577)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 2 (OMIM:600060)
Gene: MYO7A
Phenotype: Schizophrenia (HP:0100753)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Schizophrenia (HP:0100753)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Vertigo (HP:0002321)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 11 (OMIM:601317)
Gene: MYO7A
Phenotype: Vertigo (HP:0002321)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 2 (OMIM:600060)
Gene: MYO7A
Phenotype: High hypermetropia (HP:0008499)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Juvenile onset (HP:0003621)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MYO7A
Phenotype: Nystagmus (HP:0000639)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: MYO7A
Phenotype: Nystagmus (HP:0000639)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Abnormal dental enamel morphology (HP:0000682)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Microdontia (HP:0000691)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MYO7A
Phenotype: Nyctalopia (HP:0000662)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Carious teeth (HP:0000670)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Hallucinations (HP:0000738)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Hallucinations (HP:0000738)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Anxiety (HP:0000739)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Anxiety (HP:0000739)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Depression (HP:0000716)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Depression (HP:0000716)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Childhood onset (HP:0011463)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MYO7A
Phenotype: Young adult onset (HP:0011462)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MYO7A
Phenotype: Bone spicule pigmentation of the retina (HP:0007737)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MYO7A
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Iris hypopigmentation (HP:0007730)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Attenuation of retinal blood vessels (HP:0007843)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MYO7A
Phenotype: Abnormality of dental color (HP:0011073)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Hemianopia (HP:0012377)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Hemianopia (HP:0012377)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Abnormality of the inner ear (HP:0000359)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Abnormal cochlea morphology (HP:0000375)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: MYO7A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 2 (OMIM:600060)
Gene: MYO7A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Sensorineural hearing impairment (HP:0000407)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL DOMINANT 11 (OMIM:601317)
Gene: MYO7A
Phenotype: Abnormal vestibular function (HP:0001751)
Associated disease: DEAFNESS, AUTOSOMAL RECESSIVE 2 (OMIM:600060)
Gene: MYO7A
Phenotype: Vestibular hyporeflexia (HP:0001756)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Cataract (HP:0000518)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Cataract (HP:0000518)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MYO7A
Phenotype: Rod-cone dystrophy (HP:0000510)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: MYO7A
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: MYO7A
Phenotype: Abnormal electroretinogram (HP:0000512)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Scotoma (HP:0000575)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Scotoma (HP:0000575)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MYO7A
Phenotype: Scotoma (HP:0000575)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Visual loss (HP:0000572)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: MYO7A
Phenotype: Visual loss (HP:0000572)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO7A
Phenotype: Visual loss (HP:0000572)
Associated disease: USH1; Usher syndrome type 1 (ORPHA:231169)
Gene: MYO7A
Phenotype: Undetectable electroretinogram (HP:0000550)
Associated disease: USHER SYNDROME, TYPE I (OMIM:276900)
Gene: MYO7A
Phenotype: Optic disc pallor (HP:0000543)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MYO7A
Phenotype: Myopia (HP:0000545)
Associated disease: RETINITIS PIGMENTOSA 1 (OMIM:180100)
Gene: MYO7A
Phenotype: Myopia (HP:0000545)
Associated disease: Usher syndrome type 2; USH2 (ORPHA:231178)
Gene: MYO9A
Phenotype: Poor head control (HP:0002421)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Proximal muscle weakness (HP:0003701)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Motor delay (HP:0001270)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Motor delay (HP:0001270)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Gait disturbance (HP:0001288)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Bulbar palsy (HP:0001283)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Areflexia (HP:0001284)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Seizure (HP:0001250)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Hypotonia (HP:0001252)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Ataxia (HP:0001251)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Intellectual disability (HP:0001249)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Hyporeflexia (HP:0001265)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Waddling gait (HP:0002515)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Congenital hip dislocation (HP:0001374)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Joint hypermobility (HP:0001382)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Muscle weakness (HP:0001324)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Autosomal recessive inheritance (HP:0000007)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Staring gaze (HP:0025401)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Kyphoscoliosis (HP:0002751)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Gastroesophageal reflux (HP:0002020)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Poor suck (HP:0002033)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Frontalis muscle weakness (HP:0004661)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Limb-girdle muscle weakness (HP:0003325)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Dysphagia (HP:0002015)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Dysphagia (HP:0002015)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Spinal rigidity (HP:0003306)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Generalized muscle weakness (HP:0003324)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Respiratory arrest (HP:0005943)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Respiratory insufficiency (HP:0002093)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Easy fatigability (HP:0003388)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Fatigable weakness (HP:0003473)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: EMG: myopathic abnormalities (HP:0003458)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Apnea (HP:0002104)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Central sleep apnea (HP:0010536)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Congenital onset (HP:0003577)
Associated disease: MYASTHENIC SYNDROME, CONGENITAL, 24, PRESYNAPTIC (OMIM:618198)
Gene: MYO9A
Phenotype: Episodic respiratory distress (HP:0004885)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Intermittent episodes of respiratory insufficiency due to muscle weakness (HP:0004889)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Recurrent respiratory infections (HP:0002205)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)
Gene: MYO9A
Phenotype: Feeding difficulties (HP:0011968)
Associated disease: Presynaptic congenital myasthenic syndromes (ORPHA:98914)