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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,
Xenbase Genes : atp6v0a2
MONDO:0018163 - autosomal recessive cutis laxa type 2A |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee