|
General Information
|
| Term |
isolated microphthalmia 5 |
ID (Ontology) |
DOID:0060837 (Human Disease) |
| 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. |
| Also Known As |
"MCOP5" ; "microphthalmia-retinitis pigmentosa-foveoschisis-optic disc drusen syndrome" ; "posterior microphthalmia with retinitis pigmentosa, foveoschisis and optic disc drusen" |
| Comment |
|
|
Links to External Ontologies
|
|
DO.org
|
|
Annotations
|
|
Records annotated with this term OR any of its CHILD TERMS
|
|
|
|
Records annotated with this exact term (annotations to child terms are NOT included)
|
|
No relevant records available
|
Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
|
|
No relevant statements available
|
Relationships