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Human Disease
Axenfeld-Rieger syndrome type 3
- Term ID
- DOID:0110122
- Synonyms
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- 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
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- ICD10CM:Q13.8
- MIM:602482
- Ontology
- Human Disease ( DOID:0110122 )
- is a type of
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Other Pages
Genes Involved
Zebrafish Models