Human Phenotype Ontology 
Grandparent Node:
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Abnormal myeloid cell morphology (HP:0020047)help
Parent Node:
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Abnormal erythroid lineage cell morphology (HP:0012130)help
..Starting node
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Erythroid dysplasia (HP:0031688)help
Term ID: 31688
Name: Erythroid dysplasia
Synonym:
Definition: Dysplasia in the erythroid lineage, which presents with a variety of morphological changes in the bone marrow, including nuclear budding or irregular nuclear contour in erythroblasts.
Comments:
Reference: HP:0031688
Genes and Diseases:
 
       Child Nodes:

 Sister Nodes: 
..expandAbnormal morphology of erythroid progenitor cell (HP:0025034) help
..expandAbnormal proerythroblast morphology (HP:0025035) 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:0031688HP:0031688Erythroid dysplasia0DDX41 CL E G H5142818674OMIM:616871Myeloproliferative/lymphoproliferative neoplasms, familial (multiple types), susceptibility to.23
HP:0031688HP:0031688Erythroid dysplasia0MYSM1 CL E G H11480329401ORPHA:508542Congenital progressive bone marrow failure-B-cell immunodeficiency-skeletal dysplasia syndromeHP:0040282 - Frequent
HP:0031688HP:0031688Erythroid dysplasia0SLC19A1 CL E G H657310937OMIM:601775FOLATE LEVEL IN ERYTHROCYTES1
HP:0031688HP:0031688Erythroid dysplasia0UBA1 CL E G H731712469OMIM:301054VEXAS SYNDROME; VEXAS35


Genes (4) :DDX41 MYSM1 SLC19A1 UBA1

Diseases (4) :OMIM:616871 ORPHA:508542 OMIM:601775 OMIM:301054
 

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