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ONTOLOGY REPORT - ANNOTATIONS


Term:Pelger-Huet anomaly
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Accession:DOID:9631 term browser browse the term
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.
Synonyms:exact_synonym: Ovoid Neutrophil Nuclei, Developmental Delay, Epilepsy and Skeletal Abnormalities;   PHA;   Pelger Huet nuclear anomaly;   Pelger Huët Anomaly;   Pelger Huët Nuclear Anomaly;   Pseudo Pelger Huet Anomaly;   Pseudo Pelger Huet Nuclear Anomaly;   pseudo Pelger Huët anomaly
 primary_id: MESH:D010381
 alt_id: OMIM:169400;   RDO:0000191
 xref: GARD:9148;   NCI:C85002
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Pelger-Huet anomaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:1600215
RGD:7240710
RGD:8554872
RGD:11061939
RGD:11062007
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Lbr lamin B receptor JBrowse link 13 100,431,390 100,450,209 RGD:8554872
RGD:7240710
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nbas NBAS subunit of NRZ tethering complex JBrowse link 6 38,474,773 38,777,146 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15620
    disease of anatomical entity 14949
      hematopoietic system disease 1451
        leukocyte disease 443
          Pelger-Huet anomaly 2
            PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 1
            Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 1
Path 2
Term Annotations click to browse term
  disease 15620
    Developmental Diseases 8739
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7521
        genetic disease 7009
          monogenic disease 4562
            autosomal genetic disease 3515
              autosomal dominant disease 2079
                Pelger-Huet anomaly 2
                  PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 1
                  Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.