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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 8
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Accession:DOID:0112135 term browser browse the term
Definition:An autosomal dominant severe congenital neutropenia characterized by decreased neutrophils and onset of recurrent bacterial infections in early infancy that has_material_basis_in heterozygous mutation in the SRP54 gene on chromosome 14q13.2. (DO)
Synonyms:exact_synonym: SCN8;   SDSL;   Shwachman-Diamond syndrome-like;   autosomal dominant severe congenital neutropenia 8 with or without pancreatic dysfunction and/or neurological abnormalities;   severe congenital neutropenia 8, autosomal dominant, with or without pancreatic dysfunction and/or neurologic abnormalities;   severe congenital neutropenia, autosomal dominant 8
 primary_id: OMIM:618752


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severe congenital neutropenia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srp54a signal recognition particle 54A ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 8, autosomal dominant | ClinVar Annotator: match by term: SHWACHMAN-DIAMOND SYNDROME-LIKE OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:28972538 PMID:29914977 NCBI chr 6:72,587,584...72,626,878
Ensembl chr 6:72,587,605...72,625,189 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    physical disorder 4965
      severe congenital neutropenia 296
        autosomal dominant severe congenital neutropenia 11
          severe congenital neutropenia 8 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18248
      Hemic and Lymphatic Diseases 3849
        hematopoietic system disease 3339
          leukocyte disease 1309
            leukopenia 559
              agranulocytosis 492
                neutropenia 488
                  severe congenital neutropenia 296
                    autosomal dominant severe congenital neutropenia 11
                      severe congenital neutropenia 8 1
paths to the root