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Summary Literature (0)
DOID:0060837 - isolated microphthalmia 5

Disease Ontology Definition:An isolated 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.

Synonyms: MCOP5, microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome, posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen,

Xenbase Genes : mfrp

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012605 - isolated microphthalmia 5


Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), isolated microphthalmia (is_a), microphthalmia (is_a)