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Summary Literature (1)
DOID:3144 - cutis laxa


Disease Ontology Definition:A skin disease characterized by loose, hanging, wrinkled skin lacking in elasticity.

Synonyms: Cutis laxa, loose skin

In OMIM:
OMIM:123700 - CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1
OMIM:219100 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A
OMIM:219150 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A
OMIM:219200 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A
OMIM:612940 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B
OMIM:613177 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC; ARCL1C

In Mondo Disease Ontology:
MONDO:0016175 - cutis laxa

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : atp6v1a, lox, atp6v0a2, fbln5, ltbp4, atp6v1e1, efemp2, pycr1, aldh18a1

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): skin disease (is_a)