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Details
Link-It Detail - Disease - Neurofibromatoses
Debug Stats
  • ### Total Build Time: 218 ms 56.211 KB
  • CONCEPT_NAME gt=9 ms Completed: 9 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 572 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=0 Completed: 0 ms rowSize= 1.858 KB
  • CONCEPT_CHILDREN gt=13 ms Completed: 13 ms rowSize= 994 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15.778 KB
  • CONCEPT_RELATIONSHIPS gt=140 ms Completed: 140 ms rowSize= 13.874 KB
  • CONCEPT_GENES gt=39 ms Completed: 39 ms rowSize= 21.485 KB
  • CONCEPT_XREFS gt=16 ms Completed: 16 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Neurofibromatoses C0162678
Definition (1)
A group of disorders characterized by an autosomal dominant pattern of inheritance with high rates of spontaneous mutation and multiple neurofibromas or neurilemmomas. NEUROFIBROMATOSIS 1 (generalized neurofibromatosis) accounts for approximately 95% of cases, although multiple additional subtypes (e.g., NEUROFIBROMATOSIS 2, neurofibromatosis 3, etc.) have been described. (From Neurochirurgie 1998 Nov;44(4):267-72)
Semantic Types (1)
Neoplastic Process (T191)
Parents (4)
img Neoplastic Syndromes, Hereditary C0027672
img Neurofibroma C0027830
img Neurocutaneous Syndromes C0265316
img Heredodegenerative Disorders, Nervous System C0751870
Children (2)
img Neurofibromatosis 1 C0027831
img Neurofibromatosis 2 C0027832
Ancestral Roots
RootRoot Plus OneDepthParent
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 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
img Nervous System Diseases C0027765img Neurocutaneous Syndromes C02653163img Neurocutaneous Syndromes C0265316
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Neurocutaneous Syndromes C0265316
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372746img Neurocutaneous Syndromes C0265316
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Neurocutaneous Syndromes C0265316
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img Heredodegenerative Disorders, Nervous System C0751870
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Heredodegenerative Disorders, Nervous System C0751870
Relationships (59)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 2
diso_​to_​diso : 49
diso_​to_​gene : 3
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 36
associated_​with : 1
classifies : 1
is_​finding_​of_​disease : 1
isa : 6
mapped_​to : 7
permuted_​term_​of : 1
related_​to : 2
use : 4
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO54img Complication Aspects C1171258
DISO_to_DISO49img Complication Aspects C1171258
DISO_to_PHEN30img genetic aspects C0017399
DISO_to_PHEN20img genetic aspects C0017399
DISO_to_DISO12img Neurilemmoma C0027809
DISO_to_DISO10img Cutaneous tumor C0037286
DISO_to_DISO6img Cutaneous tumor C0037286
DISO_to_ANAT5img Skin C1123023
DISO_to_DISO5img Brain Neoplasms C0006118
DISO_to_DISO5img Peripheral Nervous System Neoplasms C0031118
DISO_to_DISO5img Scoliosis C0036439
DISO_to_DISO4img Kyphosis C0022821
DISO_to_DISO4img Nerve Sheath Neoplasms C0206727
DISO_to_DISO4img Noonan Syndrome C0028326
DISO_to_GENE4img Genes, Neurofibromatosis 1 C0085113
DISO_to_PHYS4img Mutation C0026882
DISO_to_CHEM3img Gene Products, ras C0242853
DISO_to_CHEM3img ras Proteins C0242853
DISO_to_DISO3img Aortic Diseases C0003493
DISO_to_DISO3img Esophageal Neoplasms C0014859
DISO_to_DISO3img Head and Neck Neoplasms C0018671
DISO_to_DISO3img Hemothorax C0019123
DISO_to_DISO3img Kyphosis C0022821
DISO_to_DISO3img Lung Neoplasms C0024121
DISO_to_DISO3img Meningeal Neoplasms C0025284
Genes (50)

Species:
human : 50
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSPRED1161742sprouty-related, EVH1 domain containing 1
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanINHBE83729inhibin, beta E
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanADAP255803ArfGAP with dual PH domains 2
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanIL23A51561interleukin 23, alpha subunit p19
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanSUZ1223512SUZ12 polycomb repressive complex 2 subunit
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanSPINK511005serine peptidase inhibitor, Kazal type 5
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanRGS69628regulator of G-protein signaling 6
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanIQGAP18826IQ motif containing GTPase activating protein 1
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanTP638626tumor protein p63
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanAKAP18165A kinase (PRKA) anchor protein 1
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanSCG27857secretogranin II
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanEZR7430ezrin
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanSYP6855synaptophysin
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanSTK116794serine/threonine kinase 11
img NCI, Score=801, Pubmed Id: 14518068, UMLKSK CUI: C0162678
HumanSRY6736sex determining region Y
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanSDHD6392succinate dehydrogenase complex, subunit D, integral membrane protein
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanRASA15921RAS p21 protein activator (GTPase activating protein) 1
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanQDPR5860quinoid dihydropteridine reductase
img NCI, Score=801, Pubmed Id: 8016912, UMLKSK CUI: C0162678
HumanPTPN115781protein tyrosine phosphatase, non-receptor type 11
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanPMS25395PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanPMS15378PMS1 postmeiotic segregation increased 1 (S. cerevisiae)
img NCI, Score=801, Pubmed Id: 14518068, UMLKSK CUI: C0162678
HumanPDGFRA5156platelet-derived growth factor receptor, alpha polypeptide
INFERRED, Score=800, UMLKSK CUI: C0162678
HumanPDGFB5155platelet-derived growth factor beta polypeptide
img NCI, Score=801, Pubmed Id: 3100017, UMLKSK CUI: C0162678
HumanOMG4974oligodendrocyte myelin glycoprotein
img NCI, Score=801, Pubmed Id: 9523589, UMLKSK CUI: C0162678
img NCI, Score=801, Pubmed Id: 10378372, UMLKSK CUI: C0162678
HumanNF24771neurofibromin 2 (merlin)
Click here to display 14 evidence detail records.
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0162678Neurofibromatoses0self