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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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;   rhizomelic skeletal dysplasia with or without Pelger-Huet anomaly
 narrow_synonym: RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY
 primary_id: OMIM:618019
For additional species annotation, visit the Alliance of Genome Resources.



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PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor ISO ClinVar Annotator: match by term: PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES | ClinVar Annotator: match by term: RHIZOMELIC SKELETAL DYSPLASIA WITH PELGER-HUET ANOMALY OMIM
ClinVar
PMID:23824842 PMID:25741868 PMID:28492532 PMID:29068549 PMID:30448303 More... NCBI chr13:93,539,360...93,564,065
Ensembl chr13:93,538,920...93,564,017
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      bone development disease 1810
        PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 1
Path 2
Term Annotations click to browse term
  disease 18133
    Developmental Disease 12879
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 11579
        genetic disease 11109
          monogenic disease 8599
            autosomal genetic disease 7602
              autosomal dominant disease 5125
                Pelger-Huet anomaly 2
                  PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES 1
paths to the root