Disease association ontology term - MONDO:0027451 - autosomal recessive cutis laxa type 2D

Term summary

ID

MONDO:0027451

Name

autosomal recessive cutis laxa type 2D

Ontology or CV name

Disease association

Definition

An autosomal recessive cutis laxa type II classic type characterized by cardiovascular and neurologic involvement and that has material basis in homozygous mutation in the ATP6V1A gene on chromosome 3q13.

Parents

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

Annotation