autosomal recessive cutis laxa type IIA Disease Ontology Browser

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Disease Ontology Browser

autosomal recessive cutis laxa type IIA (DOID:0070134)
Alliance: disease page
Synonyms: ARCL2A
Alt IDs: OMIM:219200, ICD10CM:Q82.8
Definition: An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.

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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