About   Help   FAQ
Disease Ontology Browser
sideroblastic anemia 1 (DOID:0060063)
Alliance: disease page
Synonyms: sideroblastic anaemia 1; X-linked sideroblastic anaemia; X-linked sideroblastic anemia; XLSA
Alt IDs: OMIM:300751
Definition: A sideoblastic anemia that is characterized by the presence of microcytic hypochromic anemia and iron overload, and has_material_basis_in X-linked inheritance of mutation in the ALAS2 gene that enocdes aminolevulinic acid synthase that catalyzes the first step in heme production.

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)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
12/10/2024
MGI 6.24 		The Jackson Laboratory