Human Phenotype Ontology 
Grandparent Node:
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Anemia (HP:0001903)help
Parent Node:
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Anemia of inadequate production (HP:0010972)help
..Starting node
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Normocytic anemia (HP:0001897)help
Term ID: 1897
Name: Normocytic anemia
Synonym: Normocytic anaemia
Definition: A kind of anemia in which the volume of the red blood cells is normal.
Comments:
Reference: HP:0001897
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandHypochromic anemia (HP:0001931) help
..expandHypoplastic anemia (HP:0001908) help
..expandMacrocytic anemia (HP:0001972) help
..expandMicrocytic anemia (HP:0001935) help
..expandNormochromic anemia (HP:0001895) help
..expandSideroblastic anemia (HP:0001924) help
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0001897HP:0001897Normocytic anemia0ALDOA CL E G H226414OMIM:611881Glycogen storage disease XII.50
HP:0001897HP:0001897Normocytic anemia0ASXL1 CL E G H17102318318ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent145
HP:0001897HP:0001897Normocytic anemia0ATP6AP1 CL E G H537868OMIM:300972IMMUNODEFICIENCY 47; IMD475
HP:0001897HP:0001897Normocytic anemia0DNAJC21 CL E G H13421827030ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent5
HP:0001897HP:0001897Normocytic anemia0EFL1 CL E G H7963125789ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent1
HP:0001897HP:0001897Normocytic anemia0EFL1 CL E G H7963125789OMIM:617941Shwachman-Diamond syndrome 2.1
HP:0001897HP:0001897Normocytic anemia0HK1 CL E G H30984922OMIM:235700Hemolytic anemia, nonspherocytic, due to hexokinase deficiency.11
HP:0001897HP:0001897Normocytic anemia0KIT CL E G H38156342ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent327
HP:0001897HP:0001897Normocytic anemia0MYD88 CL E G H46157562ORPHA:33226Waldenström macroglobulinemiaHP:0040282 - Frequent9
HP:0001897HP:0001897Normocytic anemia0RPS29 CL E G H623510419OMIM:615909Diamond-Blackfan anemia 13.3
HP:0001897HP:0001897Normocytic anemia0SBDS CL E G H5111919440ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent26
HP:0001897HP:0001897Normocytic anemia0SF3B1 CL E G H2345110768ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040282 - Frequent19
HP:0001897HP:0001897Normocytic anemia0SRP54 CL E G H672911301ORPHA:811Shwachman-Diamond syndromeHP:0040282 - Frequent
HP:0001897HP:0001897Normocytic anemia0SRSF2 CL E G H642710783ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent1
HP:0001897HP:0001897Normocytic anemia0TET2 CL E G H5479025941ORPHA:75564Acquired idiopathic sideroblastic anemiaHP:0040282 - Frequent3
HP:0001897HP:0001897Normocytic anemia0TET2 CL E G H5479025941ORPHA:98826Refractory anemiaHP:0040283 - Occasional3
HP:0001897HP:0001897Normocytic anemia0TET2 CL E G H5479025941ORPHA:98849Systemic mastocytosis with associated hematologic neoplasmHP:0040282 - Frequent3
HP:0001897HP:0001897Normocytic anemia0TOR1A CL E G H18613098OMIM:618947ARTHROGRYPOSIS MULTIPLEX CONGENITA 5; AMC547
HP:0001897HP:0001897Normocytic anemia0TPI1 CL E G H716712009OMIM:615512Triosephosphate isomerase deficiency.28
HP:0001897HP:0001897Normocytic anemia0TREX1 CL E G H1127712269ORPHA:247691Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestationsHP:0040282 - Frequent56


Genes (17) :ALDOA ASXL1 ATP6AP1 DNAJC21 EFL1 HK1 KIT MYD88 RPS29 SBDS SF3B1 SRP54 SRSF2 TET2 TOR1A TPI1 TREX1

Diseases (13) :OMIM:611881 ORPHA:98849 OMIM:300972 ORPHA:811 OMIM:617941 OMIM:235700 ORPHA:33226 OMIM:615909 ORPHA:75564 ORPHA:98826 OMIM:618947 OMIM:615512 ORPHA:247691
 

Human Phenotype Ontology(HPO) is developed by the Human Phenotype Ontology Consortium. The version used here is December 15 2022 release.