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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:cutaneous mastocytosis
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Accession:DOID:3663 term browser browse the term
Definition:Skin lesions due to abnormal infiltration of MAST CELLS. Cutaneous mastocytosis is confined to the skin without the involvement of other tissues or organs, and is mostly found in children. The three major variants are: URTICARIA PIGMENTOSA; diffuse cutaneous mastocytosis; and SOLITARY MASTOCYTOMA OF SKIN.
Synonyms:exact_synonym: Bullous Mastocytoses;   Bullous Mastocytosis;   CM;   Cutaneous Mastocytoses;   Skin Mastocytoses;   Skin Mastocytosis
 primary_id: MESH:D034701;   RDO:0001448
 xref: GARD:7842;   NCI:C7137
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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, CUTANEOUS
ClinVar Annotator: match by term: Cutaneous mastocytosis
ClinVar PMID:7479840, PMID:7530509, PMID:7691885, PMID:8589724, PMID:9438854, PMID:9827716, PMID:9990072, PMID:11276010, PMID:11380399, PMID:11493470, PMID:11505412, PMID:12960119, PMID:15173254, PMID:15790786, PMID:15972446, PMID:16307017, PMID:16352739, PMID:16384925, PMID:16731599, PMID:16908931, PMID:16912224, PMID:17259998, PMID:17372901, PMID:18024392, PMID:18980976, PMID:18986703, PMID:19164557, PMID:19262599, PMID:19812602, PMID:19865100, PMID:20736294, PMID:21159146, PMID:21689725, PMID:22357254, PMID:22504184, PMID:22703879, PMID:23582185, PMID:23714533, PMID:24045550, PMID:24728327, PMID:24755198, 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
JBrowse link
G Kitlg KIT ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20559008 NCBI chr 7:42,269,784...42,351,054
Ensembl chr 7:42,269,784...42,351,054
JBrowse link
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
JBrowse link
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16035
    sensory system disease 5232
      skin disease 2765
        mastocytosis 8
          cutaneous mastocytosis 2
            Mastocytosis, Cutaneous, with Short Stature, Conductive Hearing Loss and Microtia 0
            cutaneous solitary mastocytoma 0
            diffuse cutaneous mastocytosis 1
            urticaria pigmentosa 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
              cutaneous mastocytosis 2
                Mastocytosis, Cutaneous, with Short Stature, Conductive Hearing Loss and Microtia 0
                cutaneous solitary mastocytoma 0
                diffuse cutaneous mastocytosis 1
                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.