autosomal recessive cutis laxa type IID

Summary

DOID:0070129 - autosomal recessive cutis laxa type IID

Disease Ontology Definition:An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13.

Synonyms: ARCL2D

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

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0027451 - autosomal recessive cutis laxa type 2D

MONDO:0027451 - autosomal recessive cutis laxa type 2D

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

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

Parent(s): autosomal recessive cutis laxa type II classic type (is_a)