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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:mastocytosis
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Accession:DOID:350 term browser browse the term
Definition:A heterogenous group of disorders characterized by the abnormal increase of MAST CELLS in only the skin (MASTOCYTOSIS, CUTANEOUS), in extracutaneous tissues involving multiple organs (MASTOCYTOSIS, SYSTEMIC), or in solid tumors (MASTOCYTOMA).
Synonyms:exact_synonym: Mast Cell Disease;   Mast-Cell Diseases;   Mastocytoses;   mast cell hyperplasia
 narrow_synonym: MASTOCYTOSIS URTICARIA PIGMENTOSA;   MASTOCYTOSIS, SPORADIC, CHILDHOOD-ONSET;   Mastocytosis, Adult Sporadic;   mastocytosis with associated hematologic disorder
 primary_id: MESH:D008415
 alt_id: OMIM:154800;   RDO:0001446
 xref: GARD:6987;   ICD10CM:Q82.2;   NCI:C84269
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
mastocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Foxf1 forkhead box F1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:18421012 NCBI chr19:53,012,306...53,016,100
Ensembl chr19:53,012,332...53,016,086
JBrowse link
G Il13 interleukin 13 ISO DNA:SNP:promoter:-1112C>T (rs1800925) (human) RGD PMID:19178408 RGD:8549523 NCBI chr10:38,982,909...38,985,466
Ensembl chr10:38,982,909...38,985,466
JBrowse link
G Il4r interleukin 4 receptor ISO RGD PMID:23149659 RGD:7829822 NCBI chr 1:196,942,343...196,967,221
Ensembl chr 1:196,942,364...196,967,220
JBrowse link
G Il5ra interleukin 5 receptor subunit alpha ISO RGD PMID:21762978 RGD:11354970 NCBI chr 4:138,796,165...138,834,164
Ensembl chr 4:138,795,327...138,830,117
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Mastocytosis
ClinVar Annotator: match by term: Mastocytosis, sporadic, childhood-onset
associated with Hematologic Diseases;mRNA:increased expression:peripheral blood mononuclear cell:
ClinVar Annotator: match by OMIM:154800
ClinVar
OMIM
PMID:7529964, PMID:8589724, PMID:11380399, PMID:15790786, PMID:16081693, PMID:16307017, PMID:17065430, PMID:17525721, PMID:20140688, PMID:20205869, PMID:20339585, PMID:20890793, PMID:22703879, PMID:23020152, PMID:23593539, PMID:24205792, PMID:24728327, PMID:25079768, PMID:25157968, PMID:25176472, PMID:25637381, PMID:25741868, PMID:25975190, PMID:26158763, PMID:27023146, PMID:27214377, PMID:27258816, PMID:28492532, PMID:31775759, PMID:9029028, PMID:9519779 RGD:1600046, RGD:12910724 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
cutaneous mastocytosis term browser
Symbol Object Name Qualifiers 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 Qualifiers 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
mast-cell leukemia term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Kit KIT proto-oncogene receptor tyrosine kinase ISO ClinVar Annotator: match by term: Mast cell leukemia ClinVar PMID:7479840, PMID:7691885, PMID:8589724, PMID:9827716, PMID:9990072, PMID:11380399, PMID:11493470, PMID:15972446, 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:23582185, PMID:23714533, PMID:24045550, PMID:25157968, PMID:26158763, PMID:26822237, PMID:27777718, PMID:28492532 NCBI chr14:35,072,131...35,149,638
Ensembl chr14:35,072,108...35,149,610
JBrowse link
SM-AHNMD term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Asxl1 ASXL transcriptional regulator 1 disease_progression ISO DNA:mutations: : RGD PMID:24465546 RGD:11038711 NCBI chr 3:148,832,231...148,902,356
Ensembl chr 3:148,837,814...148,900,452
JBrowse link
systemic mastocytosis term browser
Symbol Object Name Qualifiers Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hmox1 heme oxygenase 1 ISO CTD Direct Evidence: marker/mechanism CTD PMID:17420286 NCBI chr19:14,508,634...14,515,455
Ensembl chr19:14,508,616...14,515,456
JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Mast cell disease, systemic
CTD
ClinVar
PMID:16597595, PMID:18559612 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 Qualifiers 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 16023
    sensory system disease 5231
      skin disease 2765
        mastocytosis 8
          Mastocytic Enterocolitis 0
          cutaneous mastocytosis + 2
          mast-cell sarcoma 0
          systemic mastocytosis + 3
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
              Mastocytic Enterocolitis 0
              cutaneous mastocytosis + 2
              mast-cell sarcoma 0
              systemic mastocytosis + 3
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.