Metadata | |
---|---|
ID | DOID:0070134 |
Name | autosomal recessive cutis laxa type IIA |
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. https://www.ncbi.nlm.nih.gov/pubmed/18157129, https://www.ncbi.nlm.nih.gov/pubmed/19401719 |
Xrefs | |
Synonyms |
ARCL2A [EXACT] |
Parent Relationships |