Term Name: | autosomal recessive cutis laxa type IIIA |
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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. |
Ontology: | Human Disease [DOID:0070132] ( DOID:0070132 ) |