Disease association ontology term - MONDO:0018163 - autosomal recessive cutis laxa type 2A

Term summary

ID

MONDO:0018163

Name

autosomal recessive cutis laxa type 2A

Ontology or CV name

Disease association

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.

Parents

• excluded_subClassOf congenital disorder of glycosylation
• excluded_subClassOf defect in V-ATPase
• excluded_subClassOf obsolete congenital disorder of glycosylation-related bone disorder (obsolete MONDO:0018292)
• excluded_subClassOf obsolete neurometabolic disease (obsolete MONDO:0019058)
• is_a autosomal recessive cutis laxa type 2
• is_a hereditary skin disorder
• is_a osteogenesis imperfecta and a reduction of bone mineral density.

Annotation