OBO ID: DOID:0070138
Term Name: autosomal recessive cutis laxa type IIIB Search Ontology:
Synonyms:
  • ARCL3B
  • De Barsy syndrome B
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
References:
Ontology: Human Disease   (DOID:0070138)
OTHER autosomal recessive cutis laxa type IIIB PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
PYCR1 Cutis laxa, autosomal recessive, type IIIB 614438
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None