Human Phenotype Ontology 
Grandparent Node:
expandAbnormal myeloid cell morphology (HP:0020047)help
Parent Node:
expandAbnormal erythroid lineage cell morphology (HP:0012130)help
..Starting node
..expandAbnormal proerythroblast morphology (HP:0025035)help
Term ID: 25035
Name: Abnormal proerythroblast morphology
Synonym:
Definition: Anomalous form of the proerythroblast, i.e., the immature, nucleated erythrocyte occupying the stage of erythropoeisis that follows formation of erythroid progenitor cells. This cell is CD71-positive, has both a nucleus and a nucleolus, and lacks hematopoeitic lineage markers.
Comments:
Reference: HP:0025035
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal morphology of erythroid progenitor cell (HP:0025034) help
..expandErythroid dysplasia (HP:0031688) 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:0025035HP:0025035Abnormal proerythroblast morphology0KIF23 CL E G H94936392ORPHA:98870Congenital dyserythropoietic anemia type IIIHP:0040282 - Frequent1
HP:0025035HP:0025035Abnormal proerythroblast morphology0RACGAP1 CL E G H291279804ORPHA:98870Congenital dyserythropoietic anemia type IIIHP:0040282 - Frequent


Genes (2) :KIF23 RACGAP1

Diseases (1) :ORPHA:98870
 

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