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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:inherited hemoglobinopathy
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Accession:EFO:MONDO:0019050 term browser browse the term
Definition:An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.
Synonyms:exact_synonym: DOID:2860;   Hemoglobinopathies / iron metabolism;   NCIT:C3092;   Orphanet:68364;   hemoglobinopathies;   hereditary hemoglobinopathy;   http://identifiers.org/mesh/D006453;   http://identifiers.org/snomedct/427306008
 synonym: http://identifiers.org/meddra/10060892
 related_synonym: hemoglobinopathy
 alt_id: MONDO:0019050
 xref: DOID:2860;   GARD:18883;   ICD10CM:D58.0;   ICD10CM:D58.1;   ICD9:282.7;   MESH:D006453;   MedDRA:10060892;   NCI:C3092;   ORDO:68364;   SCTID:427306008


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Path 1
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          genetic disorder 0
            inherited hemoglobinopathy 0
              Thalassemia + 0
              beta-thalassemia and related diseases + 0
              congenital nonspherocytic hemolytic anemia + 0
              hemoglobin C disease 0
              hemoglobin D disease 0
              hemoglobin E disease 0
              hemoglobinopathy Toms River 0
              hereditary methemoglobinemia + 0
              hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 0
              sickle cell anemia + 0
              sickle cell disease and related diseases 0
              sickle cell-beta-thalassemia disease syndrome 0
              sickle cell-hemoglobin E disease syndrome 0
              sickle cell-hemoglobin d disease syndrome 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          hematologic disease 0
            erythrocyte disorder 0
              hemoglobinopathy 0
                inherited hemoglobinopathy 0
                  Thalassemia + 0
                  beta-thalassemia and related diseases + 0
                  congenital nonspherocytic hemolytic anemia + 0
                  hemoglobin C disease 0
                  hemoglobin D disease 0
                  hemoglobin E disease 0
                  hemoglobinopathy Toms River 0
                  hereditary methemoglobinemia + 0
                  hereditary persistence of fetal hemoglobin-sickle cell disease syndrome 0
                  sickle cell anemia + 0
                  sickle cell disease and related diseases 0
                  sickle cell-beta-thalassemia disease syndrome 0
                  sickle cell-hemoglobin E disease syndrome 0
                  sickle cell-hemoglobin d disease syndrome 0
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