Disease

Axenfeld-Rieger syndrome type 3

Name: Axenfeld-Rieger syndrome type 3
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0110122 Axenfeld-Rieger syndrome type 3 An Axenfeld-Rieger syndrome that has_material_basis_in heterozygous mutation in the FOXC1 gene on chromosome 6p25. Axenfeld-Rieger anomaly with or without cardiac defects and/or sensorineural hearing loss Rieger syndrome type 3 anterior chamber cleavage syndrome RIEG3 anterior segment mesenchymal dysgenesis

Definition

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

Synonyms

anterior chamber cleavage syndrome
anterior segment mesenchymal dysgenesis

Cross References

ICD10CM:Q13.8
MIM:602482

Parent Terms

Axenfeld-Rieger syndrome

Child Terms

None

Sources of Associations

RGD
MGI
ZFIN
FB
WB
SGD

Associated Genes

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Associated Alleles

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Associated Models

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