ONTOLOGY REPORT - ANNOTATIONS


Term:PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES
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Accession:DOID:9009255 term browser browse the term
Definition:A disease characterized by abnormal nuclear shape and chromatin organization in blood granulocytes (PHA), short stature, and mild skeletal anomalies.
Synonyms:exact_synonym: PHASK
 primary_id: OMIM:618019
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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

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Term Annotations click to browse term
  disease 14920
    disease of anatomical entity 14086
      hematopoietic system disease 1375
        leukocyte disease 438
          Pelger-Huet anomaly 2
            PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 1
Path 2
Term Annotations click to browse term
  disease 14920
    Developmental Diseases 7769
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7091
        genetic disease 6451
          monogenic disease 3222
            autosomal genetic disease 2160
              autosomal dominant disease 1111
                Pelger-Huet anomaly 2
                  PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.