An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. [ url:https://www.ncbi.nlm.nih.gov/pubmed/8944018 http://purl.obolibrary.org/obo/ECO_0007645 ]

Synonyms: RIEG1 Rieger syndrome type 1

This is just here as a test because I lose it

Term information

database cross reference
  • ICD10CM:Q13.8
  • MIM:180500
acronym
RIEG1

has obo namespace

disease_ontology

id

DOID:0110120