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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 1
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Accession:DOID:0080625 term browser browse the term
Definition:A severe congenital neutropenia that has_material_basis_in heterozygous mutation in the neutrophil elastase gene on chromosome 19p13. (DO)
Synonyms:exact_synonym: SCN1;   severe congenital neutropenia, autosomal dominant 1
 primary_id: MESH:C565969
 alt_id: OMIM:202700
For additional species annotation, visit the Alliance of Genome Resources.


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severe congenital neutropenia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Elane elastase, neutrophil expressed ISO ClinVar Annotator: match by OMIM:202700
ClinVar Annotator: match by term: Neutropenia, severe congenital 1, autosomal dominant
OMIM
ClinVar
PMID:10581030 PMID:11001877 PMID:11675333 PMID:14962902 PMID:15657182 PMID:16079102 PMID:16551967 PMID:16737875 PMID:17053055 PMID:18028488 PMID:18611981 PMID:20301705 PMID:20582973 PMID:21425445 PMID:22758217 PMID:23463630 PMID:24523240 PMID:24616599 PMID:25427142 PMID:25741868 PMID:26567890 PMID:28073911 PMID:28492532 PMID:30040071 NCBI chr 7:12,638,320...12,640,168
Ensembl chr 7:12,638,322...12,640,232
JBrowse link
G Tcirg1 T-cell immune regulator 1, ATPase H+ transporting V0 subunit A3 ISO ClinVar Annotator: match by term: NEUTROPENIA, SEVERE CONGENITAL, 1, AUTOSOMAL DOMINANT ClinVar PMID:24753205 NCBI chr 1:219,126,687...219,139,466
Ensembl chr 1:219,127,602...219,139,464
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17129
    physical disorder 3071
      severe congenital neutropenia 11
        severe congenital neutropenia 1 2
Path 2
Term Annotations click to browse term
  disease 17129
    disease of anatomical entity 16476
      Hemic and Lymphatic Diseases 2218
        hematopoietic system disease 1797
          leukocyte disease 519
            leukopenia 126
              agranulocytosis 63
                neutropenia 59
                  severe congenital neutropenia 11
                    severe congenital neutropenia 1 2
paths to the root