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DO Term : Axenfeld-Rieger syndrome type 3 [DOID:0110122] Disease Ontology

Namespace

disease_ontology

Obsolete

false

description

An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25.

synonyms:
OMIM:602482,
RIEG3,
anterior chamber cleavage syndrome,
Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss,
anterior segment mesenchymal dysgenesis,
602482,
ICD10CM:Q13.8,
Rieger syndrome type 3

Disease

Diseases --> Human genes

Diseases --> Mouse genes

Diseases --> Mouse models

Ontology

Ontology Term --> All ancestors

Ontology Term --> All descendants

Ontology Term --> Direct children

Ontology Term --> Direct parents

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