autosomal recessive cutis laxa type IIA

Term ID

DOID:0070134

Synonyms

• ARCL2A

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. (2)

References

• ICD10CM:Q82.8
• OMIM:219200

Ontology

Human Disease   ( DOID:0070134 )