Term Name: autosomal recessive cutis laxa type IIA
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.
Ontology: Human Disease [DOID:0070134]   ( DOID:0070134 )

Relationships
is a type of: autosomal recessive cutis laxa type II classic type