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DOID:0050786 - iridogoniodysgenesis syndrome
Disease Ontology Definition:An iris 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
Xenbase Genes
:
foxc1,
pitx2
| MONDO:0011119 - carpometacarpal joint |
| MIM:137600 - ANTERIOR SEGMENT DYSGENESIS 4; ASGD4 |
| MIM:601631 - ANTERIOR SEGMENT DYSGENESIS 3; ASGD3 |
Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s):
autosomal dominant disease (is_a),
iris disease (is_a)