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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: Infantile genetic agranulocytosis;   Kostmann disease;   Kostmann syndrome;   Kostmann's agranulocytosis;   Kostmann's syndrome;   SCN3;   autosomal dominant or sporadic congenital neutropenia;   congenital agranulocytosis;   infantile 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 OMIM:610738
ClinVar Annotator: match by term: Severe congenital neutropenia 3, autosomal recessive		 OMIM
ClinVar		 PMID:10581030 PMID:11519978 PMID:17187068 PMID:18055975 PMID:18330843 PMID:18337561 PMID:18611981 PMID:19036076 PMID:19118303 PMID:19499579 PMID:20065084 PMID:20220065 PMID:21108402 PMID:21344642 PMID:22102707 PMID:24482108 PMID:25326635 PMID:25741868 PMID:28102861 PMID:28492532 PMID:32581362 NCBI chr 2:189,330,900...189,333,305
Ensembl chr 2:189,330,902...189,333,322 		JBrowse link
G Vps45 vacuolar protein sorting 45 homolog ISO CTD Direct Evidence: marker/mechanism CTD PMID:23599270 NCBI chr 2:198,123,747...198,184,739
Ensembl chr 2:198,123,748...198,184,739 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    physical disorder 2526
      severe congenital neutropenia 11
        severe congenital neutropenia 3 2
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Hemic and Lymphatic Diseases 2075
        hematopoietic system disease 1659
          leukocyte disease 497
            leukopenia 126
              agranulocytosis 64
                neutropenia 60
                  severe congenital neutropenia 11
                    severe congenital neutropenia 3 2
paths to the root