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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
For additional species annotation, visit the Alliance of Genome Resources.


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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 neuroblastoma amplified sequence 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 14759
    disease of anatomical entity 13978
      hematopoietic system disease 1355
        leukocyte disease 433
          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 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        genetic disease 5913
          monogenic disease 2854
            autosomal genetic disease 2132
              autosomal dominant disease 1092
                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