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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
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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: PHA;   Pelger Huet nuclear anomaly;   Pelger Huët Anomaly;   Pelger Huët Nuclear Anomaly;   Pseudo Pelger Huet Anomaly;   ovoid neutrophil nuclei, developmental delay, epilepsy and skeletal abnormalities;   pseudo Pelger Huet nuclear anomaly;   pseudo Pelger Huët anomaly
 primary_id: MESH:D010381
 alt_id: OMIM:169400
 xref: GARD:9148;   NCI:C85002
For additional species annotation, visit the Alliance of Genome Resources.

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Pelger-Huet anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Lbr lamin B receptor susceptibility ISO DNA:splice-site mutations, frameshift mutations, nonsense mutations
ClinVar Annotator: match by OMIM:169400
DNA:nonsense mutation, frameshift mutations
DNA:missense mutation, splice-site mutation:exon, intron:p.P119L, IVS11-9A>G (human)
ClinVar Annotator: match by term: Pelger-Huët anomaly		 OMIM
ClinVar		 PMID:12118250 PMID:14617022 PMID:21327084 PMID:25741868 PMID:26938784, PMID:12118250, PMID:12490533, PMID:14617022 RGD:1600215, RGD:11061939, RGD:11062007 NCBI chr13:100,431,390...100,450,209 JBrowse link
PELGER-HUET ANOMALY WITH MILD SKELETAL ANOMALIES term browser
Symbol Object Name Qualifiers 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
OMIM		 PMID:23824842 NCBI chr13:100,431,390...100,450,209 JBrowse link
Short Stature, Optic Nerve Atrophy, and Pelger-Huet Anomaly term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nbas NBAS subunit of NRZ tethering complex ISO ClinVar Annotator: match by term: Short stature, optic nerve atrophy, and Pelger-Huet anomaly OMIM
ClinVar		 PMID:20577004 PMID:24884844 PMID:25741868 PMID:26073778 PMID:26541327 PMID:27789416 PMID:28031453 PMID:28115293 PMID:28425089 PMID:28492532 NCBI chr 6:38,474,773...38,777,146
Ensembl chr 6:38,474,804...38,777,806 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      hematopoietic system disease 1659
        leukocyte disease 497
          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 16085
    Developmental Diseases 9586
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8437
        genetic disease 7954
          monogenic disease 5748
            autosomal genetic disease 4766
              autosomal dominant disease 3058
                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