Term Name: | autosomal recessive cutis laxa type IIA |
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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 ) |