OBO ID: DOID:0060837
Term Name: isolated microphthalmia 5 Search Ontology:
Synonyms:
  • MCOP5
  • microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome
  • posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen
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. (3)
References:
Ontology: Human Disease   (DOID:0060837)
OTHER isolated microphthalmia 5 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
MFRP Microphthalmia, isolated 5 611040
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None