Terminology Service for NFDI4Health

iridogoniodysgenesis syndrome

Go to external page http://purl.obolibrary.org/obo/DOID_0050786


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. [ http://purl.obolibrary.org/obo/ECO_0007645 ]

Term info

Label

iridogoniodysgenesis syndrome

Synonyms
  • IGDS
  • IRID 1
  • IRID 2
  • iridogoniodysgenesis type 1
  • iridogoniodysgenesis type 2
database cross reference
Subsets

DO_rare_slim

comment

Xref MGI.

created by

lschriml

creation date

2013-11-12T10:28:51Z

has obo namespace

disease_ontology

id

DOID:0050786