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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:SM-AHNMD
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Accession:DOID:4797 term browser browse the term
Synonyms:exact_synonym: systemic mastocytosis with associated clonal haematological non-mast cell lineage disease;   systemic mastocytosis with associated clonal, hematologic non-mast-cell lineage disease
 primary_id: RDO:9003602
 xref: NCI:C9284
For additional species annotation, visit the Alliance of Genome Resources.


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SM-AHNMD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 disease_progression ISO DNA:mutations: : RGD PMID:24465546 RGD:11038711 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    sensory system disease 5232
      skin disease 2765
        mastocytosis 8
          systemic mastocytosis 3
            SM-AHNMD 1
Path 2
Term Annotations click to browse term
  disease 16035
    disease of anatomical entity 15289
      musculoskeletal system disease 5761
        connective tissue disease 4105
          Connective Tissue Neoplasms 1388
            mastocytosis 8
              systemic mastocytosis 3
                SM-AHNMD 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.