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EXPERIMENTAL FACTOR ONTOLOGY - ANNOTATIONS

Term:familial hemolytic anemia
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Accession:EFO:MONDO:0003689 term browser browse the term
Definition:A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies.
Synonyms:exact_synonym: DOID:589;   NCIT:C34379;   hereditary hemolytic anaemia;   hereditary hemolytic anemia;   http://identifiers.org/medgen/1919;   http://identifiers.org/mesh/D000745;   http://identifiers.org/snomedct/42601008;   http://linkedlifedata.com/resource/umls/id/C0002881
 related_synonym: anaemia hemolytic congenital;   anemia hemolytic congenital
 alt_id: MONDO:0003689
 xref: DOID:589;   GARD:6167;   ICD9:282;   ICD9:282.9;   MEDGEN:1919;   MESH:D000745;   NANDO:2100183;   NCI:C34379;   SCTID:42601008;   UMLS:C0002881
 see_also: https://rarediseases.info.nih.gov/diseases/6167/congenital-hemolytic-anemia" xsd:anyURI {source="GARD:0006167


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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
            familial hemolytic anemia 0
              Rh deficiency syndrome 0
              abetalipoproteinemia 0
              congenital dyserythropoietic anemia + 0
              congenital nonspherocytic hemolytic anemia + 0
              cryohydrocytosis 0
              cutaneous porphyria 0
              dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0
              elliptocytosis 2 0
              familial pseudohyperkalemia 0
              glycogen storage disease VII 0
              glycogen storage disease due to aldolase A deficiency 0
              hemolytic anemia due to adenylate kinase deficiency 0
              hemolytic anemia due to diphosphoglycerate mutase deficiency 0
              hemolytic anemia due to erythrocyte adenosine deaminase overproduction 0
              hemolytic anemia due to glutathione reductase deficiency 0
              hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 0
              hereditary cryohydrocytosis with reduced stomatin 0
              hereditary spherocytosis + 0
              non-spherocytic hemolytic anemia due to hexokinase deficiency 0
              overhydrated hereditary stomatocytosis 0
              primary CD59 deficiency 0
              renal tubular acidosis, distal, 4, with hemolytic anemia 0
              southeast Asian ovalocytosis 0
              triosephosphate isomerase deficiency 0
Path 2
Term Annotations click to browse term
  experimental factor 0
    material property 0
      disposition 0
        disease 0
          hematologic disease 0
            anemia 0
              normocytic anemia 0
                familial hemolytic anemia 0
                  Rh deficiency syndrome 0
                  abetalipoproteinemia 0
                  congenital dyserythropoietic anemia + 0
                  congenital nonspherocytic hemolytic anemia + 0
                  cryohydrocytosis 0
                  cutaneous porphyria 0
                  dehydrated hereditary stomatocytosis with or without pseudohyperkalemia and/or perinatal edema 0
                  elliptocytosis 2 0
                  familial pseudohyperkalemia 0
                  glycogen storage disease VII 0
                  glycogen storage disease due to aldolase A deficiency 0
                  hemolytic anemia due to adenylate kinase deficiency 0
                  hemolytic anemia due to diphosphoglycerate mutase deficiency 0
                  hemolytic anemia due to erythrocyte adenosine deaminase overproduction 0
                  hemolytic anemia due to glutathione reductase deficiency 0
                  hemolytic anemia due to pyrimidine 5' nucleotidase deficiency 0
                  hereditary cryohydrocytosis with reduced stomatin 0
                  hereditary spherocytosis + 0
                  non-spherocytic hemolytic anemia due to hexokinase deficiency 0
                  overhydrated hereditary stomatocytosis 0
                  primary CD59 deficiency 0
                  renal tubular acidosis, distal, 4, with hemolytic anemia 0
                  southeast Asian ovalocytosis 0
                  triosephosphate isomerase deficiency 0
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