Monarch Ortholog Phenotypes
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Human (55 sources):
Abnormal choroid morphology,
Abnormal electroretinogram,
Abnormal retinal vascular morphology,
Abnormal testis morphology,
Abnormality of fundus pigmentation,
Abnormality of neuronal migration,
Abnormality of retinal pigmentation,
Abnormality of the optic disc,
Anteverted nares,
Aplasia/Hypoplasia of the cerebellar vermis,
Atypical scarring of skin,
Blindness,
Bone spicule pigmentation of the retina,
Cataract,
Choriocapillaris atrophy,
Conductive hearing impairment,
Constriction of peripheral visual field,
Deeply set eye,
Encephalocele,
Esotropia,
Glaucoma,
Global developmental delay,
Hearing impairment,
Hemiplegia/hemiparesis,
High hypermetropia,
Hyperinsulinemia,
Hypermetropia,
Hyperreflexia,
Hypogonadism,
Hypoplasia of penis,
Hypotonia,
Intellectual disability,
Keratoconus,
Microphthalmia,
Nyctalopia,
Nystagmus,
Obesity,
Ophthalmoplegia,
Optic atrophy,
Oral ulcer,
Paravenous chorioretinal atrophy,
Pendular nystagmus,
Photophobia,
Progressive night blindness,
Reduced visual acuity,
Rod-cone dystrophy,
Seizure,
Sensorineural hearing impairment,
Severely reduced visual acuity,
Strabismus,
Type II diabetes mellitus,
Undetectable electroretinogram,
Visual impairment,
Vitreoretinopathy,
Wide nasal bridge
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Mouse (19 sources):
abnormal Muller cell morphology,
abnormal photoreceptor inner segment morphology,
abnormal retina inner nuclear layer morphology,
abnormal retina outer limiting membrane morphology,
abnormal retina outer nuclear layer morphology,
abnormal retina photoreceptor layer morphology,
abnormal retina photoreceptor morphology,
abnormal retina pigment epithelium morphology,
abnormal retina vasculature morphology,
decreased retina photoreceptor cell number,
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View all ortholog results at Monarch
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