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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 5
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Accession:DOID:0112132 term browser browse the term
Definition:A severe congenital neutropenia characterized by neutropenia and neutrophil dysfunction, a lack of response to G-CSF, life-threatening infections, bone marrow fibrosis, and renal extramedullary hematopoiesis that has_material_basis_in homozygous or compound heterozygous mutation in VPS45 on chromosome 1q21.2. (DO)
Synonyms:exact_synonym: SCN5;   VPS45 deficiency;   congenital neutropenia-bone marrow fibrosis-nephromegaly syndrome;   congenital neutropenia-myelofibrosis-nephromegaly syndrome;   severe congenital neutropenia 5, autosomal recessive
 primary_id: OMIM:615285
 xref: ORDO:369852
For additional species annotation, visit the Alliance of Genome Resources.


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severe congenital neutropenia 5 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Vps45 vacuolar protein sorting 45 homolog ISO ClinVar Annotator: match by OMIM:615285
ClinVar Annotator: match by term: Severe congenital neutropenia 5, autosomal recessive
OMIM
ClinVar
PMID:23599270 PMID:23738510 PMID:25741868 PMID:28492532 NCBI chr 2:198,123,747...198,184,739
Ensembl chr 2:198,123,748...198,184,739
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16091
    physical disorder 2462
      severe congenital neutropenia 11
        severe congenital neutropenia 5 1
Path 2
Term Annotations click to browse term
  disease 16091
    disease of anatomical entity 15341
      Hemic and Lymphatic Diseases 2059
        hematopoietic system disease 1642
          leukocyte disease 494
            leukopenia 123
              agranulocytosis 62
                neutropenia 58
                  severe congenital neutropenia 11
                    severe congenital neutropenia 5 1
paths to the root