autosomal recessive cutis laxa type I

Summary

DOID:0070144 - autosomal recessive cutis laxa type I

Disease Ontology Definition:A cutis laxa characterized by wrinkled, redundant and sagging inelastic skin and severe systemic manifestations particularly in the lungs, vasculature, and gastrointestinal and genitourinary systems.

Synonyms: autosomal recessive cutis laxa type 1

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

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

: lox, fbln5, ltbp4, efemp2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0019572 - autosomal recessive cutis laxa type 1

MONDO:0019572 - autosomal recessive cutis laxa type 1

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

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

Parent(s): autosomal recessive disease (is_a), cutis laxa (is_a)