Search Ontology:
Human Disease

autosomal recessive cutis laxa type IIIB

Term ID
DOID:0070138
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 )
Relationships
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Other Pages
Genes Involved
Zebrafish Models