autosomal recessive cutis laxa type IIC

Summary

DOID:0070140 - autosomal recessive cutis laxa type IIC

Disease Ontology Definition:An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11.

Synonyms:

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

: atp6v1e1

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0027462 - autosomal recessive cutis laxa type 2C

MONDO:0027462 - autosomal recessive cutis laxa type 2C

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)