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Metadata
ID DOID:0110122
Name Axenfeld-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
Xrefs

ICD10CM:Q13.8

OMIM:602482

Synonyms

anterior chamber cleavage syndrome [EXACT]

anterior segment mesenchymal dysgenesis [EXACT]

Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss [EXACT]

RIEG3 [EXACT]

Rieger syndrome type 3 [EXACT]

Parent Relationships

is_a Axenfeld-Rieger syndrome

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