autosomal recessive cutis laxa type IIA

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Summary

Literature (0)

DOID:0070134 - autosomal recessive cutis laxa type IIA

Disease Ontology 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.

Synonyms: ARCL2A,

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

OMIM:

MIM:219200 - cutis laxa, autosomal recessive, type iia; arcl2a

MIM:219200 - cutis laxa, autosomal recessive, type iia; arcl2a

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

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

Parent(s): autosomal recessive cutis laxa type II classic type (is_a)