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DOID:0111806 - syndromic microphthalmia 5
Disease Ontology Definition:A syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in the OTX2 gene on chromosome 14q22.3.
Synonyms: MCOPS5, syndromic microphthalmia type 5, syndromic microphthalmia/anophthalmia due to OTX2 mutation,
Echinobase Genes
:
otx2
| MIM:610125 - microphthalmia, syndromic 5; mcops5 retinal dystrophy, early-onset, and pituitary dysfunction, included |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a)