Visualize Submit Comment
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

MIM:614438

Synonyms

ARCL3B [EXACT]

De Barsy syndrome B [EXACT]

Parent Relationships

is_a autosomal recessive cutis laxa type III

Add an item to the term tracker