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DOID:0060835 - isolated microphthalmia 6
Disease Ontology Definition:A microphthalmia characterized by autosomal recessive inheritance reduction in eye size that is restricted to the posterior segment of the eye, extreme hyperopia, and short axial length that has_material_basis_in homozygous or compound heterozygous mutation in the PRSS56 gene on chromosome 2q37.
Synonyms: MCOP6, posterior nonsyndromic microphthalmia,
Echinobase Genes
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| MIM:613517 - microphthalmia, isolated 6; mcop6 |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
microphthalmia (is_a)