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DOID:0070132 - autosomal recessive cutis laxa type IIIA
Disease Ontology Definition:A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24.
Synonyms: ARCL3A, De Barsy syndrome A,
Echinobase Genes :
MIM:219150 - cutis laxa, autosomal recessive, type iiia; arcl3a |
Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee