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DOID:0050786 - iridogoniodysgenesis syndrome
Disease Ontology Definition:An autosomal dominant disease that is characterized by the iris stroma being hypoplastic resulting from abnormalities in the differentiation of the anterior segment structures and increased values of intraocular pressure and has_material_basis_in autosomal dominant inheritance of mutations in the PITX2 gene.
Synonyms: IGDS, IRID 1, IRID 2, iridogoniodysgenesis type 1, iridogoniodysgenesis type 2,
Echinobase Genes
:
pitx2,
foxc1
| MIM:137600 - iridogoniodysgenesis, type 2; irid2 |
| MIM:601631 - iridogoniodysgenesis, type 1; irid1 |
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)