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Details
Link-It Detail - Disease - Peutz-Jeghers Syndrome
Debug Stats
  • ### Total Build Time: 147 ms 25.174 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • CONCEPT_RELATIONSHIPS gt=115 ms Completed: 115 ms rowSize= 14.209 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 2.049 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Peutz-Jeghers Syndrome C0031269
Definition (1)
A hereditary disease caused by autosomal dominant mutations involving CHROMOSOME 19. It is characterized by the presence of INTESTINAL POLYPS, consistently in the JEJUNUM, and mucocutaneous pigmentation with MELANIN spots of the lips, buccal MUCOSA, and digits.
Semantic Types (1)
Neoplastic Process (T191)
Parents (3)
img Intestinal Polyposis C1257915
img Neoplastic Syndromes, Hereditary C0027672
img Lentigo C0023321
Ancestral Roots
RootRoot Plus OneDepthParent
img Digestive System Diseases C0012242img Gastrointestinal Diseases C00171785img Intestinal Polyposis C1257915
img Neoplasms C0027651img Neoplastic Syndromes, Hereditary C00276723img Neoplastic Syndromes, Hereditary C0027672
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Neoplastic Syndromes, Hereditary C0027672
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372747img Lentigo C0023321
Relationships (68)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 60
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 19
disease_​has_​associated_​disease : 4
gene_​product_​malfunction_​associated_​with_​disease : 1
is_​associated_​disease_​of : 1
is_​finding_​of_​disease : 1
manifestation_​of : 32
may_​be_​associated_​disease_​of_​disease : 6
permuted_​term_​of : 1
used_​for : 3
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN83img genetic aspects C0017399
DISO_to_DISO75img Complication Aspects C1171258
DISO_to_PHEN67img genetic aspects C0017399
DISO_to_DISO65img Complication Aspects C1171258
DISO_to_CHEM51img Protein-Serine-Threonine Kinases C0072402
DISO_to_CHEM39img Protein-Serine-Threonine Kinases C0072402
DISO_to_DISO27img INTUSSUSCEPTION C0021933
DISO_to_DISO23img Intestinal Polyp C0021846
DISO_to_DISO22img INTUSSUSCEPTION C0021933
DISO_to_DISO18img Intestinal Polyp C0021846
DISO_to_PHYS14img Mutation C0026882
DISO_to_DISO12img Adenocarcinoma C0001418
DISO_to_DISO12img Adenomatous Polyposis Coli C0032580
DISO_to_DISO11img Adenocarcinoma C0001418
DISO_to_DISO11img Hamartoma C0018552
DISO_to_DISO10img Jejunal Diseases C0022373
DISO_to_DISO9img Disease, Jejunal C0022373
DISO_to_DISO9img Jejunal Neoplasms C0022374
DISO_to_PHYS9img Germ-Line Mutation C0206530
DISO_to_ANATmanifestation_ofimg Lung C0024109
DISO_to_CHEMgene_product_malfunction_associated_with_diseaseimg Serine/Threonine Protein Kinase 11 C0669470
DISO_to_DISOmanifestation_ofimg Anemia, Iron-Deficiency C0162316
DISO_to_DISOmanifestation_ofimg Biliary tract polyps C1868009
DISO_to_DISOmanifestation_ofimg Bladder polyp C0586737
DISO_to_DISOmay_be_associated_disease_of_diseaseimg Breast Carcinoma C0678222
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanTSC27249tuberous sclerosis 2
img GENERIF, Score=1000, Pubmed Id: 15231735, UMLKSK CUI: C0031269
HumanSTK116794serine/threonine kinase 11
Click here to display 21 evidence detail records.
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0031269Peutz-Jeghers Syndrome0self