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Details
Link-It Detail - Disease - Anemia, Sideroblastic
Debug Stats
  • ### Total Build Time: 25 ms 23.415 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 340 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 260 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=1 ms Completed: 1 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 985 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.788 KB
  • CONCEPT_RELATIONSHIPS gt=10 ms Completed: 10 ms rowSize= 13.893 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 3.812 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.155 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Anemia, Sideroblastic C0002896
Definition (1)
Anemia characterized by the presence of erythroblasts containing excessive deposits of iron in the marrow.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Anemia C0002871
img Myelodysplastic Syndromes C0026986
Ancestral Roots
RootRoot Plus OneDepthParent
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189394img Anemia C0002871
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189395img Myelodysplastic Syndromes C0026986
Relationships (43)

Relation Types:
diso_​to_​anat : 6
diso_​to_​chem : 2
diso_​to_​diso : 29
diso_​to_​phen : 3
diso_​to_​phys : 3


Relationships:
none : 19
associated_​with : 1
classifies : 2
clinically_​similar : 1
is_​associated_​anatomic_​site_​of : 1
is_​normal_​cell_​origin_​of_​disease : 1
is_​normal_​tissue_​origin_​of_​disease : 1
isa : 3
mapped_​to : 14
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN46img genetic aspects C0017399
DISO_to_PHEN42img genetic aspects C0017399
DISO_to_DISO28img Anemia, Refractory C0002893
DISO_to_CHEM16img 5-Aminolevulinate Synthetase C0002565
DISO_to_DISO16img Complication Aspects C1171258
DISO_to_DISO15img Complication Aspects C1171258
DISO_to_DISO14img Anemia, Refractory C0002893
DISO_to_DISO11img Dysmyelopoietic Syndromes C0026986
DISO_to_PHYS11img Mutation C0026882
DISO_to_ANAT9img In Blood C0005768
DISO_to_DISO9img Dysmyelopoietic Syndromes C0026986
DISO_to_ANAT8img In Blood C0005768
DISO_to_DISO8img Thrombocytosis C0836924
DISO_to_PHYS8img Mutation C0026882
DISO_to_ANAT7img Erythroblasts C0014762
DISO_to_CHEM7img Janus Kinase 2 C0169661
DISO_to_DISO7img Disease, X-Linked Genetic C1138434
DISO_to_DISO7img Thrombocytosis C0836924
DISO_to_PHYS7img Mutation, Point C0162735
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg HEMOLYMPHORETICULAR TISSUE C1512398
DISO_to_ANATis_associated_anatomic_site_ofimg Hematopoietic and Lymphatic System C1512394
DISO_to_ANATis_normal_cell_origin_of_diseaseimg Hematopoietic and Lymphoid Cell C1512385
DISO_to_DISOmapped_toimg AFRICAN IRON OVERLOAD C0268063
DISO_to_DISOmapped_toimg ANEMIA, SIDEROBLASTIC, AND SPINOCEREBELLAR ATAXIA C1845028
DISO_to_DISOclinically_similarimg Acquired sideroblastic anaemia C0272024
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanPUS180324pseudouridylate synthase 1
img OMIM, Score=1000, UMLKSK CUI: C0002896
img GENERIF, Score=1000, Pubmed Id: 15108122, UMLKSK CUI: C0002896
HumanWFS17466Wolfram syndrome 1 (wolframin)
img OMIM, Score=1000, UMLKSK CUI: C0002896
HumanJAK23717Janus kinase 2
img GENERIF, Score=1000, Pubmed Id: 16990759, UMLKSK CUI: C0002896
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0002896Anemia, Sideroblastic0self