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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:urticaria pigmentosa
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Accession:DOID:12309 term browser browse the term
Definition:The most common form of cutaneous mastocytosis (MASTOCYTOSIS, CUTANEOUS) that occurs primarily in children. It is characterized by the multiple small reddish-brown pigmented pruritic macules and papules.
Synonyms:exact_synonym: Maculopapular Cutaneous Mastocytoses;   Maculopapular Cutaneous Mastocytosis;   UP/MPCM
 primary_id: MESH:D014582
 xref: NCI:C3433;   ORDO:79457
For additional species annotation, visit the Alliance of Genome Resources.


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urticaria pigmentosa 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, MACULOPAPULAR CUTANEOUS ClinVar PMID:16307017, PMID:22703879, PMID:24728327, PMID:25741868, 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
    Pathological Conditions, Signs and Symptoms 8754
      Pathologic Processes 6130
        pigmentation disease 242
          urticaria pigmentosa 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      nervous system disease 10897
        sensory system disease 5231
          skin disease 2765
            mastocytosis 8
              cutaneous mastocytosis 2
                urticaria pigmentosa 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.