autosomal recessive cutis laxa type IIIA Disease Ontology Browser

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Disease Ontology Browser

autosomal recessive cutis laxa type IIIA (DOID:0070132)
Alliance: disease page
Synonyms: ARCL3A; De Barsy syndrome A
Alt IDs: OMIM:219150, ICD10CM:Q82.8, ORDO:35664
Definition: A autosomal recessive cutis laxa type III that has_material_basis_in homozygous mutation in the ALDH18A1 gene on chromosome 10q24.

Contributing Projects: Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
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