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sideroblastic anemia
Disease Summary
Associated Targets (15)
Tbio
13
Tchem
2
Mondo Description Sideroblastic anemias (SA) are a group of rare heterogeneous inherited or acquired bone marrow disorders, isolated or part of a syndrome, characterized by decreased hemoglobin synthesis, because of defective use of iron (although plasmatic iron levels may be normal or elevated) and the presence of ringed sideroblasts in the bone marrow due to the pathologic iron overload in mitochondria as visualized by Perls' staining. The group encompasses (idiopathic) acquired sideroblastic anemia and constitutional sideroblastic anemias. The latter include syndromic sideroblastic anemias such as Pearson syndrome, mitochondrial mypathy and sideroblastic anemias, x-linked sideroblastic anemia-ataxia, thiamine responsive megaloblastic anemia syndrome and nonsyndromic sideroblastic anemias comprising x-linked and autosomal recessive sideroblastic anemias.
Disease Ontology Description An aplastic anemia where the bone marrow produces ringed sideroblasts rather than healthy red blood cells (erythrocytes).
Counts of Target Development Levels for diseases known to be associated with this disease. If the disease has a valid DOID, targets known to be associated with all child diseases are aggregated. Click "Explore Associated Targets" to view more facets and details for the target list.
Description from Mondo Disease Ontology.
Description from Disease Ontology
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
COHD:432282
DOID:8955
GARD:0000667
ICD9:285.0
MESH:D000756
NCIT:C36078
Orphanet:1047
SCTID:41841004
UMLS:C0002896
MONDO:0015194
High level summary of knowledge for a disease, including descriptions and datasource references.