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severe congenital hypochromic anemia with ringed sideroblasts
Disease Summary
Associated Targets (1)
Tbio
1
Mondo Description STEAP3/TSAP6-related sideroblastic anemia is a very rare severe non-syndromic hypochromic anemia, which is characterized by transfusion-dependent hypochromic, poorly regenerative anemia, iron overload, resembling non-syndromic sideroblastic anemia except for increased erythrocyte protoporphyrin levels.
Uniprot Description A hematologic disease characterized by abnormal hemoglobin content in the erythrocytes which are reduced in size, severe anemia, erythropoietic hyperplasia of bone marrow, massive hepatic iron deposition, and hepatosplenomegaly.
Mondo Term and Equivalent IDs
MONDO:0014094: severe congenital hypochromic anemia with ringed sideroblasts
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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 UniProt.
DataSources which have contributed target associations to this disease, and the identifiers by which the disease is referenced.
OMIM:615234
Orphanet:300298
SCTID:725463007
UMLS:C3808920
UMLS:C4511137
MONDO:0014094
High level summary of knowledge for a disease, including descriptions and datasource references.