Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources
Advanced Search (OLGA)

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
go back to main search page
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 Mastocytosis;   CM;   Cutaneous Mastocytoses;   Skin Mastocytoses;   bullous mastocytoses;   skin mastocytosis
 primary_id: MESH:D034701
 xref: EFO:1000886;   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: Cutaneous mastocytosis ClinVar PMID:7479840 PMID:7530509 PMID:7691885 PMID:8589724 PMID:9438854 More... NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
G Kitl kit ligand EXP CTD Direct Evidence: marker/mechanism CTD PMID:20559008 NCBI chr10:99,851,477...99,936,278
Ensembl chr10:99,851,492...99,936,278 		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 PMID:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 More... NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		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:7479840 PMID:7691885 PMID:8589724 PMID:9827716 PMID:9990072 More... NCBI chr 5:75,735,647...75,817,382
Ensembl chr 5:75,735,576...75,817,382 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16237
    sensory system disease 7152
      skin disease 4178
        mastocytosis 9
          cutaneous mastocytosis 2
            Mastocytosis, Cutaneous, with Short Stature, Conductive Hearing Loss and Microtia 0
            diffuse cutaneous mastocytosis 1
            solitary mastocytoma of the skin 0
            urticaria pigmentosa 1
Path 2
Term Annotations click to browse term
  disease 16237
    disease of anatomical entity 15856
      nervous system disease 13788
        Neurologic Manifestations 10187
          sensory system disease 7152
            skin disease 4178
              mastocytosis 9
                cutaneous mastocytosis 2
                  Mastocytosis, Cutaneous, with Short Stature, Conductive Hearing Loss and Microtia 0
                  diffuse cutaneous mastocytosis 1
                  solitary mastocytoma of the skin 0
                  urticaria pigmentosa 1
paths to the root