autosomal recessive cutis laxa type IIA

Summary

DOID:0070134 - autosomal recessive cutis laxa type IIA

Disease Ontology Definition:An autosomal recessive cutis laxa type II classic type that has_material_basis_in homozygous or compound heterozygous mutations in the ATP6V0A2 gene on chromosome 12q24.

Synonyms: ARCL2A

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

: atp6v0a2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0018163 - autosomal recessive cutis laxa type 2A

MONDO:0018163 - autosomal recessive cutis laxa type 2A

MIM:

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

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

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)