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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 3
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Accession:DOID:0112133 term browser browse the term
Definition:A severe congenital neutropenia characterized by bone marrow failure resulting in low numbers of neutrophils, increased susceptibility to bacterial and fungal infections, and increased risk of developing myelodysplastic syndrome or acute myeloid leukemia that has_material_basis_in homozygous or compound heterozygous mutation in HAX1 on chromosome 1q21.3. (DO)
Synonyms:exact_synonym: Kostmann disease;   Kostmann syndrome;   Kostmann's agranulocytosis;   Kostmann's syndrome;   SCN3;   autosomal dominant or sporadic congenital neutropenia;   congenital agranulocytosis;   infantile agranulocytosis;   infantile genetic agranulocytosis;   severe congenital neutropenia 3, autosomal recessive
 broad_synonym: severe infantile genetic neutropenia
 primary_id: MESH:C537592
 alt_id: OMIM:610738
 xref: GARD:302;   ORDO:99749
For additional species annotation, visit the Alliance of Genome Resources.


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severe congenital neutropenia 3 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hax1 HCLS1 associated protein X-1 ISO ClinVar Annotator: match by term: Kostmann syndrome OMIM
ClinVar		 PMID:10581030 PMID:11519978 PMID:16199547 PMID:17187068 PMID:18055975 More... NCBI chr 2:175,434,242...175,437,926
Ensembl chr 2:175,434,238...175,437,714 		JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23599270 NCBI chr 2:183,555,919...183,616,312
Ensembl chr 2:183,555,921...183,616,295 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    physical disorder 4115
      severe congenital neutropenia 223
        severe congenital neutropenia 3 2
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      Hemic and Lymphatic Diseases 3279
        hematopoietic system disease 2822
          leukocyte disease 876
            leukopenia 382
              agranulocytosis 316
                neutropenia 312
                  severe congenital neutropenia 223
                    severe congenital neutropenia 3 2
paths to the root