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Summary Literature (0)
DOID:0060835 - isolated microphthalmia 6

Disease Ontology Definition:An isolated 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,

Xenbase Genes : prss56

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0013293 - isolated microphthalmia 6


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)