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Metadata
DOID DOID:0050786
Name iridogoniodysgenesis syndrome
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.
http://disorders.eyes.arizona.edu/category/alternate-names/iridogoniodysgenesis-syndrome, http://rarediseases.info.nih.gov/gard/3026/disease/resources/1, https://www.ncbi.nlm.nih.gov/pubmed/19175065
Xrefs

OMIM:137600

OMIM:601631

ORDO:98634

Subsets

DO_rare_slim

Synonyms

IGDS [EXACT]

IRID 1 [EXACT]

IRID 2 [EXACT]

iridogoniodysgenesis type 1 [EXACT]

iridogoniodysgenesis type 2 [EXACT]

Relationships

is_a autosomal dominant disease

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