Disease association ontology term - MONDO:0027462 - autosomal recessive cutis laxa type 2C

Term summary

ID

MONDO:0027462

Name

autosomal recessive cutis laxa type 2C

Ontology or CV name

Disease association

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.

Parents

• excluded_subClassOf autosomal recessive cutis laxa type 2, classic type
• is_a autosomal recessive cutis laxa type 2

Annotation