OBO ID: DOID:0060063
Term Name: sideroblastic anemia 1 Search Ontology:
Synonyms:
  • sideroblastic anaemia 1
  • X-linked sideroblastic anaemia
  • X-linked sideroblastic anemia
  • XLSA
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. https://rarediseases.info.nih.gov/diseases/9456/x-linked-sideroblastic-anemia
References:
Ontology: Human Disease   ( DOID:0060063 )
Relationships
is a type of:
OTHER sideroblastic anemia 1 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
ALAS2 Anemia, sideroblastic, 1 300751
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS (1)
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