cataract 9 multiple types

Term ID

DOID:0110266

Synonyms

autosomal recessive congenital cataract 1
cataract 9 multiple types with or without microcornea
CATC1
CTRCT9

Definition

A cataract that has_material_basis_in autosomal recessive or autosomal dominant inheritance of heterozygous or homozygous mutation in the CRYAA gene, which encodes alpha-A-crystallin, on chromosome 21q22. (2)

References

ICD10CM:Q12.0
MIM:604219

Ontology

Human Disease ( DOID:0110266 )

Relationships

is a type of: autosomal dominant disease autosomal recessive disease cataract

autosomal dominant disease autosomal recessive disease cataract Show first 5 Terms

Other Pages

Alliance (1)

Genes Involved

Zebrafish Models