Human Phenotype Ontology 
..Starting node
..expandHypochromia (HP:0032231)help
Term ID: 32231
Name: Hypochromia
Synonym:
Definition: A qualitative impression that red blood cells have less color than normal when examined under a microscope, usually related to a reduced amount of hemoglobin in the red blood cells.
Comments:
Reference: HP:0032231
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
InputHPO IDHPO termDistanceGeneGene id entrezHGNC IDDiseaseIdDiseaseNameFrequencyOnsetHGMD variantsClinVar variants
 
HPO disease - gene - phenotype typical associations:
 
HPO disease - gene - phenotype less frequent non-typical associations:
HP:0032231HP:0032231Hypochromia0GLRX5 CL E G H5121820134OMIM:616860Anemia, sideroblastic, 3, pyridoxine-refractory.17
HP:0032231HP:0032231Hypochromia0HBB CL E G H30434827ORPHA:2133Hemoglobin E diseaseHP:0040281 - Very frequent580
HP:0032231HP:0032231Hypochromia0RHAG CL E G H600510006ORPHA:71275Rh deficiency syndromeHP:0040282 - Frequent13
HP:0032231HP:0032231Hypochromia0RHCE CL E G H600610008ORPHA:71275Rh deficiency syndromeHP:0040282 - Frequent8
HP:0032231HP:0032231Hypochromia0RHD CL E G H600710009ORPHA:71275Rh deficiency syndromeHP:0040282 - Frequent16
HP:0032231HP:0032231Hypochromia0SLC11A2 CL E G H489110908OMIM:206100Anemia, hypochromic microcytic, with iron overload 1.60
HP:0032231HP:0032231Hypochromia0SLC25A38 CL E G H5497726054OMIM:205950Anemia, sideroblastic, 2, pyridoxine-refractory.41
HP:0032231HP:0032231Hypochromia0STEAP3 CL E G H5524024592OMIM:615234Anemia, hypochromic microcytic, with iron overload 2.1
HP:0032231HP:0032231Hypochromia0UMPS CL E G H737212563OMIM:258900Orotic aciduria.135


Genes (9) :GLRX5 HBB RHAG RHCE RHD SLC11A2 SLC25A38 STEAP3 UMPS

Diseases (7) :OMIM:616860 ORPHA:2133 ORPHA:71275 OMIM:206100 OMIM:205950 OMIM:615234 OMIM:258900
 

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