Disease

cataract 22 multiple types

Name: cataract 22 multiple types
Creator: Alliance of Genome Resources
License: CC BY 4.0
Keywords: disease DOID:0110268 cataract 22 multiple types A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11. autosomal recessive congenital nuclear cataract 2 CTRCT22 CATCN2

Definition

A cataract that has_material_basis_in heterozygous or homozygous mutation in the beta-B3 crystallin gene (CRYBB3) on chromosome 22q11.

Synonyms

autosomal recessive congenital nuclear cataract 2
CATCN2

Cross References

ICD10CM:Q12.0
MIM:609741

Parent Terms

autosomal dominant disease
autosomal recessive disease

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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