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Ontology Browser

Term:
Parent Terms Term With Siblings Child Terms
Axenfeld-Rieger Anomaly with Cardiac Defects and Sensorineural Hearing Loss 
Axenfeld-Rieger syndrome type 1  
Axenfeld-Rieger syndrome type 2 
Axenfeld-Rieger syndrome type 3  
An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. (DO)

Synonyms
Exact Synonyms: Axenfeld-Rieger anomaly with cardiac defects and/or sensorineural hearing loss ;   RIEG3 ;   Rieger syndrome type 3 ;   anterior chamber cleavage syndrome ;   anterior segment mesenchymal dysgenesis
Primary IDs: OMIM:602482
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/9792859 "DO" "DO"

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