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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 the G6PC3 gene 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


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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: Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:19011569 PMID:19118303 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 21108
    physical disorder 4883
      severe congenital neutropenia 295
        severe congenital neutropenia 4 1
          Dursun Syndrome 0
Path 2
Term Annotations click to browse term
  disease 21108
    disease of anatomical entity 18147
      Hemic and Lymphatic Diseases 3821
        hematopoietic system disease 3312
          leukocyte disease 1288
            leukopenia 556
              agranulocytosis 489
                neutropenia 485
                  severe congenital neutropenia 295
                    severe congenital neutropenia 4 1
                      Dursun Syndrome 0
paths to the root