You are using an outdated browser. Please upgrade your browser to improve your experience.

isolated microphthalmia 5

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any isolated microphthalmia in which the cause of the disease is a mutation in the MFRP gene.
Uniprot Description A disorder characterized by posterior microphthalmia, retinitis pigmentosa, foveoschisis and optic disk drusen. Microphthalmia is a disorder of eye formation, ranging from small size of a single eye to complete bilateral absence of ocular tissues. Ocular abnormalities like opacities of the cornea and lens, scaring of the retina and choroid, and other abnormalities may also be present.
Disease Ontology Description A microphthalmia characterized by autosomal recessive inheritance of posterior microphthalmia, hypermetropia, night blindness, decreased visual acuity, reduced macular reflex, scleral thickening, impared rod and cone responses on ERG, foveoschisis and in some patients retinal pigment epithelium atrophy, arteriolar attenuation, angle-closure glaucoma and optic disc drusen that has_material_basis_in homozygous or compound heterozygous mutation in the MFRP gene on chromosome 11q23.
Mondo Term and Equivalent IDs
MONDO:0012605:  isolated microphthalmia 5
MESH:C567024: 
Orphanet:251279: 
UMLS:C1970236: