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Echinobase
Summary Literature (0)
DOID:10629 - microphthalmia


Disease Ontology Definition:An eye disease where one or both eyeballs are abnormally small.

Synonyms: microphthalmos, nanophthalmia, nanophthalmos, simple microphthalmos,

Echinobase Genes : sox2, tmem98, hccs, vsx2, otx2, six6


OMIM:
MIM:206900 - microphthalmia, syndromic 3; mcops3
MIM:300166 - microphthalmia, syndromic 2; mcops2
MIM:309801 - microphthalmia, syndromic 7; mcops7
MIM:601186 - microphthalmia, syndromic 9; mcops9
MIM:607932 - microphthalmia, syndromic 6; mcops6
MIM:609549 - nanophthalmos 2; nno2
MIM:610093 - microphthalmia, isolated 2; mcop2
MIM:610125 - microphthalmia, syndromic 5; mcops5 retinal dystrophy, early-onset, and pituitary dysfunction, included
MIM:611038 - microphthalmia, isolated 3; mcop3
MIM:611040 - microphthalmia, isolated 5; mcop5
MIM:613094 - microphthalmia, isolated 4; mcop4
MIM:613704 - microphthalmia, isolated 7; mcop7
MIM:615972 - nanophthalmos 4; nno4

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): eye disease (is_a)