autosomal recessive cutis laxa type IIC Disease Ontology Browser

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Disease Ontology Browser

autosomal recessive cutis laxa type IIC (DOID:0070140)
Alliance: disease page
Alt IDs: OMIM:617402, ICD10CM:Q82.8
Definition: An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.

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)
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