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Metadata
ID DOID:0070132
Name autosomal recessive cutis laxa type IIIA
Definition A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24.
https://www.ncbi.nlm.nih.gov/pubmed/11092761
Xrefs

ICD10CM:Q82.8

OMIM:219150

ORDO:35664

Subsets

DO_rare_slim

Synonyms

ARCL3A [EXACT]

De Barsy syndrome A [EXACT]

Parent Relationships

is_a autosomal recessive cutis laxa type III

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