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Metadata
ID DOID:0070138
Name autosomal recessive cutis laxa type IIIB
Definition An autosomal recessive cutis laxa type III that has_material_basis_in homozygous or compound heterozygous mutation in the PYCR1 gene on chromosome 17q25.
https://www.ncbi.nlm.nih.gov/pubmed/19648921
Xrefs

ICD10CM:Q82.8

OMIM:614438

Synonyms

ARCL3B [EXACT]

De Barsy syndrome B [EXACT]

Parent Relationships

is_a autosomal recessive cutis laxa type III

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