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Metadata
ID DOID:0070130
Name autosomal dominant cutis laxa 1
Definition An autosomal dominant cutis laxa that has_material_basis_in heterozygous mutations in the ELN gene on chromosome 7q11.
https://www.ncbi.nlm.nih.gov/pubmed/9580666, https://www.ncbi.nlm.nih.gov/pubmed/9873040
Xrefs

ICD10CM:Q82.8

OMIM:123700

Synonyms

ADCL1 [EXACT]

Parent Relationships

is_a autosomal dominant cutis laxa

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