Summary Literature (0)

DOID:3144 - cutis laxa

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

Synonyms: loose skin, Cutis laxa

Xenbase Genes : atp6v1a, lox, atp6v0a2, fbln5, ltbp4, atp6v1e1, efemp2, pycr1, aldh18a1, eln1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0016175 - cutis laxa

MIM:

MIM:123700 - CUTIS LAXA, AUTOSOMAL DOMINANT 1; ADCL1

MIM:219100 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IA; ARCL1A

MIM:219150 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIIA; ARCL3A

MIM:219200 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIA; ARCL2A

MIM:612940 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IIB; ARCL2B

MIM:613177 - CUTIS LAXA, AUTOSOMAL RECESSIVE, TYPE IC; ARCL1C

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

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