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Metadata
ID DOID:0070135
Name autosomal recessive cutis laxa type IA
Definition An autosomal recessive cutis laxa type I that has_material_basis_in homozygous or compound heterozygous mutation in the FBLN5 gene on chromosome 14q32.
https://www.ncbi.nlm.nih.gov/pubmed/12189163
Xrefs

ICD10CM:Q82.8

OMIM:219100

Synonyms

ARCL1A [EXACT]

Parent Relationships

is_a autosomal recessive cutis laxa type I

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