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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:severe congenital neutropenia 7
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Accession:DOID:0112129 term browser browse the term
Definition:A severe congenital neutropenia characterized by onset of recurrent infections in infancy or early childhood, peripheral neutropenia but normal granulocyte maturation in the bone marrow that has_material_basis_in homozygous or compound heterozygous mutation in CSF3R on chromosome 1p34.3. (DO)
Synonyms:exact_synonym: SCN7;   autosomal recessive severe congenital neutropenia 7;   autosomal recessive severe congenital neutropenia due to CSF3R deficiency
 primary_id: OMIM:617014
 xref: ORDO:420702
For additional species annotation, visit the Alliance of Genome Resources.


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severe congenital neutropenia 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Csf3r colony stimulating factor 3 receptor ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 7, autosomal recessive ClinVar
OMIM
PMID:10449521 PMID:23604229 PMID:23634996 PMID:23656643 PMID:24081659 PMID:24403076 PMID:24614839 PMID:24753537 PMID:24854193 PMID:25491280 PMID:25741868 PMID:25932451 PMID:26324699 PMID:26875968 PMID:27148573 PMID:27352967 PMID:27581359 PMID:28209919 PMID:28219221 PMID:28492532 PMID:28762112 PMID:30967555 PMID:32581362 NCBI chr 5:144,031,353...144,051,966
Ensembl chr 5:144,031,402...144,051,600
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16092
    physical disorder 2459
      severe congenital neutropenia 11
        severe congenital neutropenia 7 1
Path 2
Term Annotations click to browse term
  disease 16092
    disease of anatomical entity 15341
      Hemic and Lymphatic Diseases 2056
        hematopoietic system disease 1639
          leukocyte disease 493
            leukopenia 122
              agranulocytosis 62
                neutropenia 58
                  severe congenital neutropenia 11
                    severe congenital neutropenia 7 1
paths to the root