Search Ontology:
Human Disease

Axenfeld-Rieger syndrome type 1

Term ID
DOID:0110120
Synonyms
  • RIEG1
  • Rieger syndrome type 1
Definition
An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the homeobox transcription factor gene PITX2 on chromosome 4q25. https://www.ncbi.nlm.nih.gov/pubmed/8944018
References
Ontology
Human Disease   ( DOID:0110120 )
Relationships
is a type of
Other Pages
Alliance (1)
Genes Involved
Zebrafish Models
Citations
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