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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

GARD:3026

MIM:137600

MIM:601631

ORDO:98634

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 iris disease

is_a autosomal dominant disease

Subclass Logical Relationships

has material basis in some autosomal dominant inheritance

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