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- Bbae66ad1c0cbe754e278c3fe3bf6c875 hasDbXref "Orphanet:1047" @default.
- Bbae66ad1c0cbe754e278c3fe3bf6c875 type Axiom @default.
- Bbae66ad1c0cbe754e278c3fe3bf6c875 annotatedProperty IAO_0000115 @default.
- Bbae66ad1c0cbe754e278c3fe3bf6c875 annotatedSource MONDO_0015194 @default.
- Bbae66ad1c0cbe754e278c3fe3bf6c875 annotatedTarget "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." @default.