OBO ID: DOID:0070132
Term Name: autosomal recessive cutis laxa type IIIA Search Ontology:
Synonyms:
  • ARCL3A
  • De Barsy syndrome A
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
References:
Ontology: Human Disease   (DOID:0070132)
Relationships
is a type of:
OTHER autosomal recessive cutis laxa type IIIA PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALDH18A1 Cutis laxa, autosomal recessive, type IIIA 219150
ZEBRAFISH MODELSNo data available
PHENOTYPE No data available

CITATIONS: None