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Metadata
ID	DOID:0070129
Name	autosomal recessive cutis laxa type IID
Definition	An autosomal recessive cutis laxa type II classic type that is characterized by generalized skin wrinkling with sparse subcutaneous fat and dysmorphic progeroid facial featuret and that has_material_basis_in homozygous mutation in the ATP6V1A gene on chromosome 3q13. https://www.ncbi.nlm.nih.gov/pubmed/28065471
Xrefs	ICD10CM:Q82.8 OMIM:617403
Synonyms	ARCL2D [EXACT]
Parent Relationships	is_a autosomal recessive cutis laxa type II classic type