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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: EFO:1001229;   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:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 More... NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19139
    sensory system disease 7383
      skin disease 4322
        pigmentation disease 312
          urticaria pigmentosa 1
Path 2
Term Annotations click to browse term
  disease 19139
    disease of anatomical entity 18451
      nervous system disease 14361
        Neurologic Manifestations 10463
          sensory system disease 7383
            skin disease 4322
              mastocytosis 9
                cutaneous mastocytosis 2
                  urticaria pigmentosa 1
paths to the root