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Metadata
ID	DOID:0070140
Name	autosomal recessive cutis laxa type IIC
Definition	An autosomal recessive cutis laxa type II classic type characterized by cardiovascular involvement that has_material_basis_in homozygous mutation in the ATP6V1E1 gene on chromosome 22q11. https://www.ncbi.nlm.nih.gov/pubmed/28065471
Xrefs	ICD10CM:Q82.8 MIM:617402
Parent Relationships	is_a autosomal recessive cutis laxa type II classic type