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Summary Literature (0)
DOID:0070136 - autosomal dominant cutis laxa 2

Disease Ontology Definition:An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutation in the FBLN5 gene on chromosome 14q32.

Synonyms: ADCL2,

Xenbase Genes : atp6v1a, atp6v0a2, atp6v1e1

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0009054 - autosomal recessive cutis laxa type 2, classic type

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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal dominant cutis laxa (is_a)