| Metadata | |
|---|---|
| ID | DOID:0050786 |
| Name | iridogoniodysgenesis syndrome |
| 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. https://www.ncbi.nlm.nih.gov/pubmed/19175065, http://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
IGDS [EXACT] IRID 1 [EXACT] IRID 2 [EXACT] iridogoniodysgenesis type 1 [EXACT] iridogoniodysgenesis type 2 [EXACT] |
| Parent Relationships |
is_a autosomal dominant disease is_a iris disease |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |