cataract 9 multiple types

Summary

DOID:0110266 - cataract 9 multiple types

Disease Ontology 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.

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

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: pax6, mip, bfsp2, cryaa

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0011413 - cataract 9 multiple types

MONDO:0011413 - cataract 9 multiple types

MIM:

MIM:604219 - CATARACT 9, MULTIPLE TYPES; CTRCT9

MIM:604219 - CATARACT 9, MULTIPLE TYPES; CTRCT9

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view

Parent(s): autosomal dominant disease (is_a), autosomal recessive disease (is_a), cataract (is_a)