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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

ICD10CM:Q82.8

OMIM:219200

Synonyms

ARCL2A [EXACT]

Parent Relationships

is_a autosomal recessive cutis laxa type II classic type

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