autosomal recessive cutis laxa type II classic type

Summary

DOID:0070141 - autosomal recessive cutis laxa type II classic type

Disease Ontology Definition:A cutis laxa characterized by generalized skin wrinkling, sparse subcutaneous fat, dysmorphic progeroid facial features and severe hypotonia.

Synonyms: ARCL2, classic type, ARCL2, Debre type

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

: atp6v1a, atp6v0a2, atp6v1e1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0009054 - autosomal recessive cutis laxa type 2, classic type

MONDO:0009054 - autosomal recessive cutis laxa type 2, classic type

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)