autosomal recessive cutis laxa type IIIA

Term ID

DOID:0070132

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

• ICD10CM:Q82.8
• OMIM:219150
• ORDO:35664

Ontology

Human Disease   ( DOID:0070132 )