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Details
Link-It Detail - Disease - Neurofibroma, Plexiform
Debug Stats
  • ### Total Build Time: 159 ms 32.351 KB
  • CONCEPT_NAME gt=11 ms Completed: 11 ms rowSize= 344 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 622 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=6 ms Completed: 6 ms rowSize= 548 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 5.293 KB
  • CONCEPT_RELATIONSHIPS gt=99 ms Completed: 99 ms rowSize= 14.271 KB
  • CONCEPT_GENES gt=26 ms Completed: 26 ms rowSize= 9.934 KB
  • CONCEPT_XREFS gt=15 ms Completed: 15 ms rowSize= 1.157 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Neurofibroma, Plexiform C0206728
Definition (1)
A type of neurofibroma manifesting as a diffuse overgrowth of subcutaneous tissue, usually involving the face, scalp, neck, and chest but occasionally occurring in the abdomen or pelvis. The tumors tend to progress, and may extend along nerve roots to eventually involve the spinal roots and spinal cord. This process is almost always a manifestation of NEUROFIBROMATOSIS 1. (From Adams et al., Principles of Neurology, 6th ed, p1016; J Pediatr 1997 Nov;131(5):678-82)
Semantic Types (1)
Neoplastic Process (T191)
Parents (1)
img Neurofibroma C0027830
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278687img Neurofibroma C0027830
img Neoplasms C0027651img Neoplasms by Site C00276537img Neurofibroma C0027830
img Nervous System Diseases C0027765img Nervous System Neoplasms C00277666img Neurofibroma C0027830
img Neoplasms C0027651img Neoplasms by Histologic Type C00276526img Neurofibroma C0027830
Relationships (33)

Relation Types:
diso_​to_​anat : 12
diso_​to_​diso : 19
diso_​to_​phen : 2


Relationships:
none : 16
is_​abnormal_​cell_​of_​disease : 6
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 2
is_​normal_​cell_​origin_​of_​disease : 2
is_​normal_​tissue_​origin_​of_​disease : 2
is_​not_​finding_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
may_​be_​molecular_​abnormality_​of_​disease : 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_DISO55img Neurofibromatosis 1 C0027831
DISO_to_DISO46img Neurofibromatosis 1 C0027831
DISO_to_DISO29img Complication Aspects C1171258
DISO_to_DISO16img Complication Aspects C1171258
DISO_to_PHEN11img genetic aspects C0017399
DISO_to_DISO9img Cutaneous tumor C0037286
DISO_to_DISO9img Soft Tissue Neoplasms C0037579
DISO_to_DISO8img Cutaneous tumor C0037286
DISO_to_DISO8img Neoplasm of PNS C0031118
DISO_to_PHEN8img genetic aspects C0017399
DISO_to_DISO6img Facial Neoplasms C0015461
DISO_to_DISO6img Head and Neck Neoplasms C0018671
DISO_to_DISO6img Nerve Sheath Neoplasms C0206727
DISO_to_DISO6img Soft Tissue Neoplasms C0037579
DISO_to_DISO5img Neoplasm of peritoneum C0031149
DISO_to_DISO5img Orbital Neoplasms C0029185
DISO_to_ANATis_abnormal_cell_of_diseaseimg Neoplastic Cell C0597032
DISO_to_ANATis_abnormal_cell_of_diseaseimg Neoplastic Fibroblast-Like Cell C1513966
DISO_to_ANATis_abnormal_cell_of_diseaseimg Neoplastic Neuroepithelial Cell and Neoplastic Perineural Cell C1514049
DISO_to_ANATis_abnormal_cell_of_diseaseimg Neoplastic Perineural Cell C1514056
DISO_to_ANATis_abnormal_cell_of_diseaseimg Neoplastic Perineurial-Like Cell C1518984
DISO_to_ANATis_abnormal_cell_of_diseaseimg Neoplastic Schwann Cell C1514080
DISO_to_ANATis_normal_cell_origin_of_diseaseimg Nerve Cell, Neuroepithelial Cell, and Supporting Cell of the Nervous System C1518293
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg Nerve Tissue and Nerve Sheaths C1518249
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg Nerve Tissue, Neuroepithelial Tissue, and Nerve Sheaths C1518250
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanUHMK1127933U2AF homology motif (UHM) kinase 1
img GENERIF, Score=861, Pubmed Id: 12782393, UMLKSK CUI: C0206728
HumanTNXB7148tenascin XB
img GENERIF, Score=1000, Pubmed Id: 17202312, UMLKSK CUI: C0206728
HumanTIMP37078TIMP metallopeptidase inhibitor 3
img NCI, Score=801, Pubmed Id: 12883734, UMLKSK CUI: C0206728
HumanNF14763neurofibromin 1
img GENERIF, Score=1000, Pubmed Id: 11857752, UMLKSK CUI: C0206728
HumanMSH24436mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
img OMIM, Score=1000, UMLKSK CUI: C0206728
HumanTNC3371tenascin C
img GENERIF, Score=1000, Pubmed Id: 17202312, UMLKSK CUI: C0206728
HumanDAPK11612death-associated protein kinase 1
img NCI, Score=801, Pubmed Id: 12883734, UMLKSK CUI: C0206728
HumanANK3288ankyrin 3, node of Ranvier (ankyrin G)
img NCI, Score=801, Pubmed Id: 15519868, UMLKSK CUI: C0206728
img NCI, Score=801, Pubmed Id: 15519868, UMLKSK CUI: C0206728
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0206728Neurofibroma, Plexiform0self