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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:diffuse cutaneous mastocytosis
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Accession:DOID:3665 term browser browse the term
Synonyms:primary_id: RDO:9004888
 xref: GARD:12686;   ICD10CM:D47.01;   NCI:C3218
For additional species annotation, visit the Alliance of Genome Resources.


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diffuse cutaneous mastocytosis term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: MASTOCYTOSIS, DIFFUSE CUTANEOUS
ClinVar Annotator: match by term: Diffuse cutaneous mastocytosis
ClinVar PMID:7479840, PMID:7691885, PMID:8589724, PMID:9827716, PMID:9990072, PMID:11380399, PMID:11493470, PMID:15972446, PMID:16307017, PMID:16352739, PMID:16384925, PMID:16731599, PMID:16912224, PMID:17259998, PMID:18024392, PMID:18986703, PMID:19164557, PMID:19262599, PMID:19865100, PMID:21689725, PMID:22504184, PMID:22703879, PMID:23582185, PMID:23714533, PMID:24045550, PMID:24728327, PMID:25157968, PMID:25741868, PMID:26158763, PMID:26822237, PMID:27777718, PMID:28492532, PMID:31775759 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    sensory system disease 5231
      skin disease 2765
        mastocytosis 8
          cutaneous mastocytosis 2
            diffuse cutaneous mastocytosis 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          Connective Tissue Neoplasms 1388
            mastocytosis 8
              cutaneous mastocytosis 2
                diffuse cutaneous mastocytosis 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.