Rare diseases · Sign or symptom

Abnormal erythroid lineage cell morphology

HP:0012130

What it means

An anomaly of erythroid lineage cells, that is, of the erythropoietic cells in the lineage leading to and including erythrocytes.

Proerythroblasts are the earliest recognizable erythroid precursors. They are followined during the process of hematopoiesis by basophilic erythroblasts, polychromatic (polychromatophilic) erythroblasts, orthochromatic erythroblasts (normoblasts), reticulocytes, and finally mature erythrocytes (red blood cells). This term encompasses structural anomalies of erythroblast precursors in the bone marrow.

Rare diseases that can present with this1

The range is how often this sign appears among people diagnosed with each disease — it is not a probability of having any of them. Many of these signs also occur in common, non-rare conditions. A sign on this page is a conversation to have with a clinician, not a conclusion.

Part of the broader category

Also called: Abnormality of cells of the erythroid lineage

Abnormal erythroid lineage cell morphology

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This page uses the Human Phenotype Ontology (2026-06-23) — Human Phenotype Ontology Consortium, hpo.jax.org. Disease associations from Orphanet (INSERM), CC BY 4.0. Content is educational and is not medical advice.