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Details
Link-It Detail - Disease - Mastocytosis, Cutaneous
Debug Stats
  • ### Total Build Time: 37 ms 67.924 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 396 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 460 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=0 Completed: 0 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 548 bytes
  • CONCEPT_CHILDREN gt=2 ms Completed: 2 ms rowSize= 993 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 4.058 KB
  • CONCEPT_RELATIONSHIPS gt=9 ms Completed: 9 ms rowSize= 14.825 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 45.332 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Mastocytosis, Cutaneous C1136033
Cutaneous Mastocytosis
Definition (1)
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.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Mastocytosis C0024899
Children (2)
img Urticaria Pigmentosa C0042111
img Mastocytoma, Skin C0343115
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Mastocytosis C0024899
img Skin and Connective Tissue Diseases C0175166img Connective Tissue Diseases C00097825img Mastocytosis C0024899
img Neoplasms C0027651img Neoplasms by Histologic Type C00276526img Mastocytosis C0024899
Relationships (38)

Relation Types:
diso_​to_​anat : 17
diso_​to_​chem : 1
diso_​to_​diso : 18
diso_​to_​phen : 2


Relationships:
none : 8
eo_​disease_​maps_​to_​human_​disease : 1
is_​abnormal_​cell_​of_​disease : 5
is_​associated_​anatomic_​site_​of : 3
is_​finding_​of_​disease : 3
is_​normal_​cell_​origin_​of_​disease : 3
is_​normal_​tissue_​origin_​of_​disease : 2
is_​not_​finding_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 2
isa : 8
mapped_​to : 1
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO20img Complication Aspects C1171258
DISO_to_PHEN17img genetic aspects C0017399
DISO_to_DISO13img CANINE DIS C0012979
DISO_to_ANAT12img Mast Cells C0024880
DISO_to_ANAT11img Skin C1123023
DISO_to_CHEM10img Proto-Oncogene Protein c-kit C0072470
DISO_to_DISO8img Cutaneous tumor C0037286
DISO_to_DISO8img Telangiectasis C0039446
DISO_to_ANATis_associated_anatomic_site_ofimg Bone Marrow C0005953
DISO_to_ANATis_normal_cell_origin_of_diseaseimg Bone Marrow Stem Cell C1511246
DISO_to_ANATis_abnormal_cell_of_diseaseimg Cancer Cell C0334227
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Dermis C0011646
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg HEMOLYMPHORETICULAR TISSUE C1512398
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg Haematopoietic tissue C0229619
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Hematopoietic and Lymphatic System C1512394
DISO_to_ANATis_normal_cell_origin_of_diseaseimg Hematopoietic and Lymphoid Cell C1512385
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary System C0037267
DISO_to_ANATis_normal_cell_origin_of_diseaseimg Mast Cells C0024880
DISO_to_ANATis_abnormal_cell_of_diseaseimg Neoplastic Cell C0597032
DISO_to_ANATis_abnormal_cell_of_diseaseimg Neoplastic Hematopoietic and Lymphoid Cell C1513983
DISO_to_ANATis_abnormal_cell_of_diseaseimg Neoplastic Mast Cell C1514012
DISO_to_ANATis_abnormal_cell_of_diseaseimg Neoplastic Myeloid Cell C1514039
DISO_to_ANATis_associated_anatomic_site_ofimg Skin C1123023
DISO_to_DISOis_finding_of_diseaseimg Cutaneous Involvement C1511567
DISO_to_DISOpermuted_term_ofimg Cutaneous Mastocytosis C1136033
Genes (60)

Species:
human : 54
mouse : 6
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
MouseTNFRSF1B7133tumor necrosis factor receptor superfamily, member 1B
img NCI, Score=801, Pubmed Id: 9129203, UMLKSK CUI: C1136033
img NCI, Score=801, Pubmed Id: 9247583, UMLKSK CUI: C1136033
img NCI, Score=801, Pubmed Id: 9129203, UMLKSK CUI: C1136033
img NCI, Score=801, Pubmed Id: 9042106, UMLKSK CUI: C1136033
img NCI, Score=801, Pubmed Id: 9042106, UMLKSK CUI: C1136033
MouseSNAP256616synaptosomal-associated protein, 25kDa
img NCI, Score=801, Pubmed Id: 10654661, UMLKSK CUI: C1136033
MousePXMP25827peroxisomal membrane protein 2, 22kDa
img NCI, Score=801, Pubmed Id: 11470509, UMLKSK CUI: C1136033
MouseITGAL3683integrin, alpha L (antigen CD11A (p180), lymphocyte function-associated antigen 1; alpha polypeptide)
img NCI, Score=801, Pubmed Id: 1679716, UMLKSK CUI: C1136033
MouseHSP90AA23324heat shock protein 90kDa alpha (cytosolic), class A member 2
img NCI, Score=801, Pubmed Id: 12460799, UMLKSK CUI: C1136033
MouseERCC52073excision repair cross-complementing rodent repair deficiency, complementation group 5
img NCI, Score=801, Pubmed Id: 7590748, UMLKSK CUI: C1136033
HumanPTPRVP148713protein tyrosine phosphatase, receptor type, V, pseudogene
img NCI, Score=801, Pubmed Id: 6371643, UMLKSK CUI: C1136033
HumanCTNNBIP156998catenin, beta interacting protein 1
img NCI, Score=801, Pubmed Id: 15507458, UMLKSK CUI: C1136033
HumanLRP1229967low density lipoprotein receptor-related protein 12
img NCI, Score=801, Pubmed Id: 12545169, UMLKSK CUI: C1136033
HumanEBAG99166estrogen receptor binding site associated, antigen, 9
img NCI, Score=801, Pubmed Id: 11705872, UMLKSK CUI: C1136033
HumanDLEU28847deleted in lymphocytic leukemia 2 (non-protein coding)
img NCI, Score=801, Pubmed Id: 6357942, UMLKSK CUI: C1136033
HumanIQGAP18826IQ motif containing GTPase activating protein 1
img NCI, Score=801, Pubmed Id: 12189501, UMLKSK CUI: C1136033
img NCI, Score=801, Pubmed Id: 12189501, UMLKSK CUI: C1136033
img NCI, Score=801, Pubmed Id: 12189501, UMLKSK CUI: C1136033
img NCI, Score=801, Pubmed Id: 12189501, UMLKSK CUI: C1136033
HumanTNFRSF11A8792tumor necrosis factor receptor superfamily, member 11a, NFKB activator
img NCI, Score=801, Pubmed Id: 10615125, UMLKSK CUI: C1136033
HumanADAM98754ADAM metallopeptidase domain 9
img NCI, Score=801, Pubmed Id: 12484779, UMLKSK CUI: C1136033
HumanTOC7149tylosis with oesophageal cancer
img NCI, Score=801, Pubmed Id: 9798681, UMLKSK CUI: C1136033
HumanTNNI37137troponin I type 3 (cardiac)
img NCI, Score=801, Pubmed Id: 8903721, UMLKSK CUI: C1136033
HumanTNFRSF1B7133tumor necrosis factor receptor superfamily, member 1B
img NCI, Score=801, Pubmed Id: 9247583, UMLKSK CUI: C1136033
img NCI, Score=801, Pubmed Id: 14504653, UMLKSK CUI: C1136033
img NCI, Score=801, Pubmed Id: 9129203, UMLKSK CUI: C1136033
img NCI, Score=801, Pubmed Id: 9247583, UMLKSK CUI: C1136033
img NCI, Score=801, Pubmed Id: 9129203, UMLKSK CUI: C1136033
HumanTK17083thymidine kinase 1, soluble
img NCI, Score=801, Pubmed Id: 9177778, UMLKSK CUI: C1136033
HumanSLC18A26571solute carrier family 18 (vesicular monoamine transporter), member 2
img NCI, Score=801, Pubmed Id: 15150286, UMLKSK CUI: C1136033
HumanSDHD6392succinate dehydrogenase complex, subunit D, integral membrane protein
img NCI, Score=801, Pubmed Id: 9683583, UMLKSK CUI: C1136033
HumanSAA16288serum amyloid A1
img NCI, Score=801, Pubmed Id: 7361840, UMLKSK CUI: C1136033
img NCI, Score=801, Pubmed Id: 7361840, UMLKSK CUI: C1136033
img NCI, Score=801, Pubmed Id: 7361840, UMLKSK CUI: C1136033
img NCI, Score=801, Pubmed Id: 7361840, UMLKSK CUI: C1136033
HumanSAA@6287serum amyloid A1 cluster
img NCI, Score=801, Pubmed Id: 7361840, UMLKSK CUI: C1136033
img NCI, Score=801, Pubmed Id: 7361840, UMLKSK CUI: C1136033
img NCI, Score=801, Pubmed Id: 7361840, UMLKSK CUI: C1136033
img NCI, Score=801, Pubmed Id: 7361840, UMLKSK CUI: C1136033
HumanS100P6286S100 calcium binding protein P
img NCI, Score=801, Pubmed Id: 11168760, UMLKSK CUI: C1136033
HumanS100A96280S100 calcium binding protein A9
img NCI, Score=801, Pubmed Id: 9845287, UMLKSK CUI: C1136033
HumanS100A86279S100 calcium binding protein A8
img NCI, Score=801, Pubmed Id: 9845287, UMLKSK CUI: C1136033
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1136033Mastocytosis, Cutaneous0self