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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.



show annotations for term's descendants           Sort by:
 
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:9536098 PMID:17576681 PMID:19118303 PMID:19775295 PMID:20616219 More... NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221
JBrowse link
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:19118303 PMID:20799326 PMID:25491320 PMID:25741868 More... NCBI chr10:87,146,987...87,151,223
Ensembl chr10:87,146,901...87,151,221
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17435
    physical disorder 3130
      severe congenital neutropenia 11
        severe congenital neutropenia 4 1
          Dursun Syndrome 1
Path 2
Term Annotations click to browse term
  disease 17435
    disease of anatomical entity 16766
      Hemic and Lymphatic Diseases 2394
        hematopoietic system disease 1969
          leukocyte disease 517
            leukopenia 128
              agranulocytosis 64
                neutropenia 60
                  severe congenital neutropenia 11
                    severe congenital neutropenia 4 1
                      Dursun Syndrome 1
paths to the root