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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:autosomal dominant severe congenital neutropenia
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Accession:DOID:0112130 term browser browse the term
Definition:A severe congenital neutropenia that has_material_basis_in heterozygous mutation of an autosomal gene. (DO)
Synonyms:xref: GARD:9558

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show annotations for term's descendants           Sort by:
severe congenital neutropenia 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G LOC102018844 neutrophil elastase ISO ClinVar Annotator: match by term: ELANE-related condition | ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant OMIM
ClinVar		 PMID:3229910 PMID:9536098 PMID:10581030 PMID:11001877 PMID:11278653 More... NCBI chrNW_004955495:6,964,577...6,967,208
Ensembl chrNW_004955495:6,964,667...6,967,106 		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 chrNW_004955422:17,768,469...17,778,976
Ensembl chrNW_004955422:17,768,469...17,779,003 		JBrowse link
G Vps13b vacuolar protein sorting 13 homolog B ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 1, autosomal dominant ClinVar PMID:16648375 PMID:25741868 PMID:28492532 NCBI chrNW_004955417:14,570,399...15,228,106
Ensembl chrNW_004955417:14,570,904...15,227,877 		JBrowse link
Severe Congenital Neutropenia 11, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sec61a1 SEC61 translocon subunit alpha 1 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 11, autosomal dominant OMIM
ClinVar		 PMID:32325141 NCBI chrNW_004955429:15,637,461...15,652,556
Ensembl chrNW_004955429:15,637,325...15,652,556 		JBrowse link
severe congenital neutropenia 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:25741868 PMID:28492532 NCBI chrNW_004955414:18,968,144...19,106,241
Ensembl chrNW_004955414:18,967,435...19,106,241 		JBrowse link
G Dipk1a divergent protein kinase domain 1A ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004955423:1,651,562...1,748,651
Ensembl chrNW_004955423:1,710,257...1,748,651 		JBrowse link
G Evi5 ecotropic viral integration site 5 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004955423:1,784,255...1,997,561
Ensembl chrNW_004955423:1,784,264...1,997,561 		JBrowse link
G Gfi1 growth factor independent 1 transcriptional repressor ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant OMIM
ClinVar		 PMID:9536098 PMID:11807637 PMID:12778173 PMID:17576681 PMID:20560965 More... NCBI chrNW_004955423:2,024,084...2,032,530
Ensembl chrNW_004955423:2,022,417...2,033,149 		JBrowse link
G Rpl5 ribosomal protein L5 ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 2, autosomal dominant ClinVar PMID:28492532 NCBI chrNW_004955423:1,748,809...1,758,622
Ensembl chrNW_004955423:1,748,809...1,758,622 		JBrowse link
severe congenital neutropenia 8 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Srp54 signal recognition particle 54 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 chrNW_004955409:25,977,226...26,016,351
Ensembl chrNW_004955409:25,977,226...26,016,351 		JBrowse link
Severe Congenital Neutropenia 9, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Clpb ClpB family mitochondrial disaggregase ISO ClinVar Annotator: match by term: Neutropenia, severe congenital, 9, autosomal dominant OMIM
ClinVar		 PMID:25741868 PMID:28492532 PMID:32313153 PMID:34115842 PMID:34140661 NCBI chrNW_004955414:18,968,144...19,106,241
Ensembl chrNW_004955414:18,967,435...19,106,241 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14195
    physical disorder 4611
      severe congenital neutropenia 265
        autosomal dominant severe congenital neutropenia 10
          Severe Congenital Neutropenia 11, Autosomal Dominant 1
          Severe Congenital Neutropenia 9, Autosomal Dominant 1
          severe congenital neutropenia 1 3
          severe congenital neutropenia 2 5
          severe congenital neutropenia 8 1
Path 2
Term Annotations click to browse term
  disease 14195
    disease of anatomical entity 13850
      Hemic and Lymphatic Diseases 3389
        hematopoietic system disease 2943
          leukocyte disease 1139
            leukopenia 468
              agranulocytosis 433
                neutropenia 430
                  severe congenital neutropenia 265
                    autosomal dominant severe congenital neutropenia 10
                      Severe Congenital Neutropenia 11, Autosomal Dominant 1
                      Severe Congenital Neutropenia 9, Autosomal Dominant 1
                      severe congenital neutropenia 1 3
                      severe congenital neutropenia 2 5
                      severe congenital neutropenia 8 1
paths to the root