loading...| Preferred Name |
sideroblastic anemia |
|
| Synonyms |
anaemia sideroblastic anemia sideroblastic anemia, hypochromic with iron loading sideroblastic anemia |
|
| Definitions |
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. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0015194 |
|
| closeMatch | ||
| database_cross_reference |
MESH:D000756 NANDO:2100179 SCTID:41841004 UMLS:C0002896 NCIT:C36078 NANDO:2200616 Orphanet:1047 MedDRA:10040661 DOID:8955 GARD:18714 ICD9:285.0 |
|
| definition |
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. |
|
| exactMatch |
http://linkedlifedata.com/resource/umls/id/C0002896 http://purl.obolibrary.org/obo/Orphanet_1047 http://purl.obolibrary.org/obo/DOID_8955 http://purl.obolibrary.org/obo/NCIT_C36078 |
|
| has_exact_synonym |
anaemia sideroblastic anemia sideroblastic anemia, hypochromic with iron loading sideroblastic anemia |
|
| id |
MONDO:0015194 |
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#otar http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
sideroblastic anemia |
|
| notation |
MONDO:0015194 |
|
| prefLabel |
sideroblastic anemia |
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| subClassOf | ||
| excluded_subClassOf |