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autosomal recessive cutis laxa type IIIA
Summary
- Synonym
-
- 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.
- Super Class
- autosomal recessive cutis laxa type III
External Links
- Disease Ontology
- DOID:0070132
- ORDO
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| P54886 | Delta-1-pyrroline-5-carboxylate synthase |
