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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 4
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Accession:DOID:0112136 term browser browse the term
Definition:A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in G6PC3 on chromosome 17q21.31. (DO)
Synonyms:exact_synonym: SCN4;   autosomal recessive severe congenital neutropenia due to G6PC3 deficiency;   severe congenital neutropenia, autosomal recessive 4;   severe congenital neutropenia-pulmonary hypertension-superficial venous angiectasis syndrome
 primary_id: MESH:C567260
 alt_id: OMIM:612541
 xref: ORDO:331176
For additional species annotation, visit the Alliance of Genome Resources.


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severe congenital neutropenia 4 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Severe congenital neutropenia 4, autosomal recessive
ClinVar Annotator: match by OMIM:612541
OMIM
ClinVar
PMID:19118303 PMID:19775295 PMID:20616219 PMID:20717171 PMID:22050868 PMID:22469094 PMID:23180359 PMID:23298686 PMID:23441086 PMID:23758768 PMID:24033266 PMID:24549407 PMID:24750412 PMID:25326635 PMID:25391451 PMID:25492228 PMID:25741868 PMID:27577878 PMID:28492532 NCBI chr10:90,134,193...90,138,425
Ensembl chr10:90,134,193...90,138,425
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Dursun Syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G G6pc3 glucose 6 phosphatase catalytic subunit 3 ISO ClinVar Annotator: match by term: Dursun syndrome ClinVar PMID:19011569 PMID:20799326 PMID:25741868 NCBI chr10:90,134,193...90,138,425
Ensembl chr10:90,134,193...90,138,425
JBrowse link

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 4 1
          Dursun Syndrome 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 4 1
                      Dursun Syndrome 1
paths to the root