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Details
Link-It Detail - Disease - Pilomatrixoma
Debug Stats
  • ### Total Build Time: 68 ms 36.891 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 615 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= 187 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 557 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 1.506 KB
  • CONCEPT_RELATIONSHIPS gt=47 ms Completed: 47 ms rowSize= 15.873 KB
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 16.686 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pilomatrixoma C0206711
Definition (1)
A tumor composed of cells resembling those of the hair matrix, which undergo 'mummification' and may calcify. It is a relatively uncommon tumor, which may occur at any age from infancy. The majority of patients are under 20, and females are affected more than males. The lesion is usually a solitary deep dermal or subcutaneous tumor 3-30 mm in diameter, situated in the head, neck, or upper extremity. (From Rook et al., Textbook of Dermatology, 4th ed, p2401)
Semantic Types (1)
Neoplastic Process (T191)
Parents (1)
img Neoplasms, Basal Cell C0206710
Ancestral Roots
RootRoot Plus OneDepthParent
img Neoplasms C0027651img Neoplasms by Histologic Type C00276525img Neoplasms, Basal Cell C0206710
Relationships (50)

Relation Types:
diso_​to_​anat : 14
diso_​to_​chem : 1
diso_​to_​diso : 31
diso_​to_​gene : 2
diso_​to_​phen : 2


Relationships:
none : 11
expanded_​form_​of : 1
gene_​associated_​with_​disease : 2
gene_​product_​malfunction_​associated_​with_​disease : 1
inheritance_​type_​of : 1
is_​abnormal_​cell_​of_​disease : 2
is_​associated_​anatomic_​site_​of : 2
is_​finding_​of_​disease : 7
is_​normal_​cell_​origin_​of_​disease : 1
is_​normal_​tissue_​origin_​of_​disease : 2
is_​not_​abnormal_​cell_​of_​disease : 3
is_​not_​finding_​of_​disease : 3
is_​primary_​anatomic_​site_​of_​disease : 3
isa : 1
manifestation_​of : 9
may_​be_​finding_​of_​disease : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO135img Cutaneous tumor C0037286
DISO_to_DISO117img Hair Diseases C0018500
DISO_to_DISO111img Cutaneous tumor C0037286
DISO_to_DISO103img Hair Diseases C0018500
DISO_to_DISO16img Head and Neck Neoplasms C0018671
DISO_to_PHEN12img genetic aspects C0017399
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_DISO11img FACIAL NEOPL C0015461
DISO_to_ANAT9img Melanocytes C0025201
DISO_to_PHEN9img genetic aspects C0017399
DISO_to_DISO8img EYELID NEOPL C0015424
DISO_to_ANATis_not_abnormal_cell_of_diseaseimg Cancer Cell C0334227
DISO_to_ANATis_not_abnormal_cell_of_diseaseimg Carcinoma Cell C1518174
DISO_to_ANATis_normal_cell_origin_of_diseaseimg Epithelial Cells C0014597
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg Epithelial Tissue C0014609
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Exocrine System C1516995
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg Germinative Follicular Epithelium C1880954
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Hair C0018494
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Hair Follicle C0221971
DISO_to_ANATis_associated_anatomic_site_ofimg Integumentary System C0037267
DISO_to_ANATis_abnormal_cell_of_diseaseimg Neoplastic Cell C0597032
DISO_to_ANATis_abnormal_cell_of_diseaseimg Neoplastic Epithelial Cell C1513959
DISO_to_ANATis_not_abnormal_cell_of_diseaseimg Neoplastic Smooth Muscle Cell C1514098
DISO_to_ANATis_associated_anatomic_site_ofimg Skin C1123023
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg beta Catenin C0105770
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanTCHH7062trichohyalin
img NCI, Score=801, Pubmed Id: 8734653, UMLKSK CUI: C0206711
img NCI, Score=801, Pubmed Id: 10228630, UMLKSK CUI: C0206711
img NCI, Score=801, Pubmed Id: 10228630, UMLKSK CUI: C0206711
HumanS100A36274S100 calcium binding protein A3
img NCI, Score=801, Pubmed Id: 15727645, UMLKSK CUI: C0206711
img NCI, Score=801, Pubmed Id: 15727645, UMLKSK CUI: C0206711
HumanS100A26273S100 calcium binding protein A2
img NCI, Score=801, Pubmed Id: 15727645, UMLKSK CUI: C0206711
img NCI, Score=801, Pubmed Id: 15727645, UMLKSK CUI: C0206711
HumanMUTYH4595mutY homolog (E. coli)
img OMIM, Score=1000, UMLKSK CUI: C0206711
HumanKRT353886keratin 35
img GENERIF, Score=966, Pubmed Id: 15140206, UMLKSK CUI: C0206711
HumanKRT313881keratin 31
img GENERIF, Score=966, Pubmed Id: 15140206, UMLKSK CUI: C0206711
HumanIVL3713involucrin
img NCI, Score=801, Pubmed Id: 10228630, UMLKSK CUI: C0206711
img NCI, Score=801, Pubmed Id: 7524610, UMLKSK CUI: C0206711
HumanCTNNB11499catenin (cadherin-associated protein), beta 1, 88kDa
img GENERIF, Score=966, Pubmed Id: 16378715, UMLKSK CUI: C0206711
img OMIM, Score=1000, UMLKSK CUI: C0206711
HumanCOL2A11280collagen, type II, alpha 1
img GENERIF, Score=1000, Pubmed Id: 15102076, UMLKSK CUI: C0206711
HumanBMP4652bone morphogenetic protein 4
img GENERIF, Score=1000, Pubmed Id: 15102076, UMLKSK CUI: C0206711
HumanAPC324adenomatous polyposis coli
img GENERIF, Score=861, Pubmed Id: 12575848, UMLKSK CUI: C0206711
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0206711Pilomatrixoma0self