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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: MIM:154800
 xref: EFO:0009001;   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 chr19:66,062,635...66,066,427
Ensembl chr19:49,153,699...49,157,738 		JBrowse link
G Il13 interleukin 13 ISO DNA:SNP:promoter:-1112C>T (rs1800925) (human) RGD PMID:19178408 RGD:8549523 NCBI chr10:38,290,926...38,293,483
Ensembl chr10:37,790,130...37,792,737 		JBrowse link
G Il2rb interleukin 2 receptor subunit beta ISO RGD PMID:21301182 RGD:42724469 NCBI chr 7:111,913,828...111,928,537
Ensembl chr 7:110,033,341...110,048,054 		JBrowse link
G Il4r interleukin 4 receptor ISO RGD PMID:23149659 RGD:7829822 NCBI chr 1:189,545,739...189,570,639
Ensembl chr 1:180,115,120...180,139,980 		JBrowse link
G Il5ra interleukin 5 receptor subunit alpha ISO RGD PMID:21762978 RGD:11354970 NCBI chr 4:139,630,652...139,664,593
Ensembl chr 4:139,632,066...139,668,544 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO
ISS		 ClinVar Annotator: match by term: Mast cell disease | ClinVar Annotator: match by term: Mastocytosis
OMIM:154800
CTD Direct Evidence: marker/mechanism
associated with Hematologic Diseases;mRNA:increased expression:peripheral blood mononuclear cell:		 ClinVar
MouseDO
CTD
OMIM
RGD		 PMID:7529964 PMID:8589724 PMID:10554798 PMID:11380399 PMID:16081693 More... RGD:1600046, RGD:12910724 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652 		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: Cutaneous mastocytosis 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
G Kitlg KIT ligand ISO CTD Direct Evidence: marker/mechanism CTD PMID:20559008 NCBI chr 7:36,782,621...36,863,796
Ensembl chr 7:34,896,053...34,977,214 		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 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
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 3:162,273,828...162,341,742
Ensembl chr 3:141,813,433...141,881,538 		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 chr19:13,452,365...13,479,823
Ensembl chr19:13,467,244...13,474,079 		JBrowse link
G Kit KIT proto-oncogene receptor tyrosine kinase ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Systemic mast cell disease		 CTD
ClinVar		 PMID:16597595 NCBI chr14:32,901,615...32,978,895
Ensembl chr14:32,548,877...32,624,652 		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: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 19141
    sensory system disease 7375
      skin disease 4319
        mastocytosis 9
          Mastocytic Enterocolitis 0
          cutaneous mastocytosis + 2
          mast-cell sarcoma 0
          systemic mastocytosis + 3
Path 2
Term Annotations click to browse term
  disease 19141
    disease of anatomical entity 18453
      nervous system disease 14360
        Neurologic Manifestations 10450
          sensory system disease 7375
            skin disease 4319
              mastocytosis 9
                Mastocytic Enterocolitis 0
                cutaneous mastocytosis + 2
                mast-cell sarcoma 0
                systemic mastocytosis + 3
paths to the root