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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
 xref: EFO:1000559;   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 2:153,187,750...153,245,927
Ensembl chr 2:153,187,749...153,245,927 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18301
    sensory system disease 6747
      skin disease 3826
        mastocytosis 9
          systemic mastocytosis 3
            SM-AHNMD 1
Path 2
Term Annotations click to browse term
  disease 18301
    disease of anatomical entity 15631
      nervous system disease 13500
        Neurologic Manifestations 9790
          sensory system disease 6747
            skin disease 3826
              mastocytosis 9
                systemic mastocytosis 3
                  SM-AHNMD 1
paths to the root