Metadata | |
---|---|
ID | DOID:0070132 |
Name | autosomal recessive cutis laxa type IIIA |
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 |
Xrefs | |
Subsets |
DO_rare_slim |
Synonyms |
ARCL3A [EXACT] De Barsy syndrome A [EXACT] |
Parent Relationships |