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General Information
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| Term |
Axenfeld-Rieger syndrome type 3 |
ID (Ontology) |
DOID:0110122 (Human Disease) |
| Definition |
An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. |
| Also Known As |
"anterior chamber cleavage syndrome" ; "anterior segment mesenchymal dysgenesis" ; "Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss" (for all, see Synonyms field below) |
| Comment |
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Links to External Ontologies
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DO.org
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Annotations
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Records annotated with this term OR any of its CHILD TERMS
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Records annotated with this exact term (annotations to child terms are NOT included)
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No relevant records available
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Full annotation statements including this term (annotations to child terms are NOT included), and relevant FlyBase records
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| Full annotation statements | Relevant FlyBase reports |
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| Genes |
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Axenfeld-Rieger syndrome type 3 | 1 | for disease ribbon | Axenfeld-Rieger syndrome type 3 | 1 | model of | Axenfeld-Rieger syndrome type 3 | 1 |
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Relationships