OBO ID: DOID:0110120
Term Name: Axenfeld-Rieger syndrome type 1 Search Ontology:
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 Axenfeld-Rieger syndrome type 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PITX2 Axenfeld-Rieger syndrome, type 1 180500
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None
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