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loading...| Preferred Name |
Axenfeld-Rieger syndrome type 3 |
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| Synonyms |
anterior chamber cleavage syndrome |
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| Definitions |
An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. |
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| ID |
http://purl.obolibrary.org/obo/DOID_0110122 |
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| database_cross_reference |
OMIM:602482 ICD10CM:Q13.8 |
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| definition |
An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. |
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| disease has basis in | ||
| has exact synonym |
anterior chamber cleavage syndrome Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss Rieger syndrome type 3 anterior segment mesenchymal dysgenesis RIEG3 |
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| has_obo_namespace |
disease_ontology |
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| id |
DOID:0110122 |
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| label |
Axenfeld-Rieger syndrome type 3 |
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| notation |
DOID:0110122 |
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| prefLabel |
Axenfeld-Rieger syndrome type 3 |
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| subClassOf |
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