loading...| Preferred Name |
Pelger-Huet Anomaly [Disease/Finding] |
|
| Synonyms |
Pelger-Huët Nuclear Anomaly |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000002341 |
|
| altLabel |
Pelger-Huët Nuclear Anomaly Pelger-Huët Anomaly Pelger-Huet Anomaly Pelger-Huet Nuclear Anomaly Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy, and Skeletal Abnormalities Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities |
|
| cui |
C0030779 |
|
| MESH DEFINITION |
Autosomal dominant anomaly characterized by abnormal ovoid shape GRANULOCYTE nuclei and their clumping chromatin. Mutations in the LAMIN B receptor gene that results in reduced protein levels are associated with the disorder. Heterozygote individuals are healthy with normal granulocyte function while homozygote individuals occasionally have skeletal anomalies, developmental delay, and seizures. |
|
| MESH DUI |
D010381 |
|
| MeSH name |
Pelger-Huet Anomaly |
|
| MESH UI |
M0016097 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000002341 |
|
| NUI |
N0000002341 |
|
| prefLabel |
Pelger-Huet Anomaly [Disease/Finding] |
|
| SNOMED CID |
85559002 |
|
| tui |
T047 |
|
| subClassOf |