OBO ID: DOID:0110122
Term Name: Axenfeld-Rieger syndrome type 3 Search Ontology:
Synonyms:
  • anterior chamber cleavage syndrome
  • anterior segment mesenchymal dysgenesis
  • Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss
  • RIEG3
  • Rieger syndrome type 3
Definition: An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. https://www.ncbi.nlm.nih.gov/pubmed/9792859
References:
Ontology: Human Disease   ( DOID:0110122 )
Relationships
is a type of:
OTHER Axenfeld-Rieger syndrome type 3 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
FOXC1 Axenfeld-Rieger syndrome, type 3 602482
PHENOTYPE No data available

CITATIONS (1)
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