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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 6
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Accession:DOID:0112134 term browser browse the term
Definition:A severe congenital neutropenia that has_material_basis_in homozygous or compound heterozygous mutation in JAGN1 on chromosome 3p25.3. (DO)
Synonyms:exact_synonym: SCN6;   autosomal recessive severe congenital neutropenia due to JAGN1 deficiency;   severe congenital neutropenia 6, autosomal recessive
 primary_id: OMIM:616022
 xref: ORDO:423384
For additional species annotation, visit the Alliance of Genome Resources.


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severe congenital neutropenia 6 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Jagn1 jagunal homolog 1 ISO ClinVar Annotator: match by OMIM:616022
DNA:missense mutation:exon:p.H44Y (human)
DNA:missense mutations: :multiple
ClinVar Annotator: match by term: Severe congenital neutropenia 6, autosomal recessive
ClinVar
OMIM
PMID:25129144 PMID:25741868 PMID:28492532 PMID:30044346, PMID:25851723, PMID:25129144 RGD:11531098, RGD:11531099 NCBI chr 4:145,399,885...145,404,605
Ensembl chr 4:145,399,913...145,404,617
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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 6 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 6 1
paths to the root