Bietti crystalline corneoretinal dystrophy Disease Ontology Browser

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Disease Ontology Browser

Bietti crystalline corneoretinal dystrophy (DOID:0050664)
Alliance: disease page
Synonyms: Bietti's crystalline dystrophy
Alt IDs: OMIM:210370
Definition: A retinal degeneration that is characterized by crystals in the cornea, shiny deposits on the retina and progressive atrophy of the retina, choriocapillaris and choroid, has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the CYP4V2 gene on chromosome 4q35.

Disease References using Mouse Models (2)

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources Funding Information Warranty Disclaimer, Privacy Notice, Licensing, & Copyright Send questions and comments to User Support.	last database update 04/16/2024 MGI 6.23

Allelic Composition	Genetic Background	Reference	Phenotypes
Cyp4v3tm1(KOMP)Vlcg/Cyp4v3tm1(KOMP)Vlcg	B6(Cg)-Cyp4v3^{tm1(KOMP)Vlcg}	J:230232	View
Cyp4v3em1Xsu/Cyp4v3em1Xsu	C57BL/6J-Cyp4v3^em1Xsu	J:321817	View