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Details
Link-It Detail - Disease - Neurocutaneous Syndromes
Debug Stats
  • ### Total Build Time: 120 ms 41.139 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 346 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 292 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= 997 bytes
  • CONCEPT_CHILDREN gt=13 ms Completed: 13 ms rowSize= 2.696 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 5.036 KB
  • CONCEPT_RELATIONSHIPS gt=63 ms Completed: 63 ms rowSize= 12.320 KB
  • CONCEPT_GENES gt=32 ms Completed: 32 ms rowSize= 18.121 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Neurocutaneous Syndromes C0265316
Definition (1)
A group of disorders characterized by ectodermal-based malformations and neoplastic growths in the skin, nervous system, and other organs.
Semantic Types (1)
Neoplastic Process (T191)
Parents (2)
img Nervous System Diseases C0027765
img Ectodermal Dysplasia C0013575
Children (6)
img Sturge-Weber Syndrome C0038505
img Neurofibromatoses C0162678
img Ataxia Telangiectasia C0004135
img Tuberous Sclerosis C0041341
img Nevus, Sebaceous of Jadassohn C0265318
img von Hippel-Lindau Disease C0019562
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C00277652img Nervous System Diseases C0027765
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Ectodermal Dysplasia C0013575
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Ectodermal Dysplasia C0013575
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Ectodermal Dysplasia C0013575
Relationships (41)

Relation Types:
diso_​to_​diso : 39
diso_​to_​phen : 2


Relationships:
none : 20
is_​finding_​of_​disease : 1
isa : 8
mapped_​to : 11
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO56img Complication Aspects C1171258
DISO_to_DISO53img Complication Aspects C1171258
DISO_to_DISO44img Melanosis C0025209
DISO_to_DISO42img Melanosis C0025209
DISO_to_DISO30img Cutaneous tumor C0037286
DISO_to_DISO29img Cutaneous tumor C0037286
DISO_to_PHEN24img genetic aspects C0017399
DISO_to_DISO23img Melanocytic nevus C0027962
DISO_to_DISO22img Melanocytic nevus C0027962
DISO_to_DISO20img Abnormalities, Multiple C0000772
DISO_to_DISO17img Lipomatosis C0023801
DISO_to_PHEN17img genetic aspects C0017399
DISO_to_DISO16img Eye Abnormalities C0015393
DISO_to_DISO14img Abnormalities, Multiple C0000772
DISO_to_DISO13img Aortic Coarctation C0003492
DISO_to_DISO12img Disorder of eye C0015397
DISO_to_DISO12img Hemangioma C0018916
DISO_to_DISO12img Lipomatosis C0023801
DISO_to_DISO10img Hemangioma C0018916
DISO_to_DISO10img Melanoma C0025202
DISO_to_DISOmapped_toimg AADH SYNDROME C0796002
DISO_to_DISOmapped_toimg Angioma hereditary neurocutaneous C1275084
DISO_to_DISOmapped_toimg Arteriovenous aneurysm of mid-brain and retina, facial nevi and mental changes C0265321
DISO_to_DISOisaimg Ataxia Telangiectasia C0004135
DISO_to_DISOisaimg Basal Cell Nevus Syndrome C0004779
Genes (97)

Species:
human : 97
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSPRED1161742sprouty-related, EVH1 domain containing 1
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanINHBE83729inhibin, beta E
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanRPTOR57521regulatory associated protein of MTOR, complex 1
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanNLGN4X57502neuroligin 4, X-linked
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanADAP255803ArfGAP with dual PH domains 2
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanNLRP255655NLR family, pyrin domain containing 2
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanAGGF155109angiogenic factor with G patch and FHA domains 1
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanDDIT454541DNA-damage-inducible transcript 4
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanNLGN354413neuroligin 3
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanIL23A51561interleukin 23, alpha subunit p19
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanPPP1R15A23645protein phosphatase 1, regulatory subunit 15A
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanSUZ1223512SUZ12 polycomb repressive complex 2 subunit
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanSPINK511005serine peptidase inhibitor, Kazal type 5
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanRGS69628regulator of G-protein signaling 6
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanNRXN19378neurexin 1
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanSNAP299342synaptosomal-associated protein, 29kDa
img GENERIF, Score=901, Pubmed Id: 15968592, UMLKSK CUI: C0265316
HumanIQGAP18826IQ motif containing GTPase activating protein 1
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanTP638626tumor protein p63
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanAKAP18165A kinase (PRKA) anchor protein 1
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanSCG27857secretogranin II
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanZNF1487707zinc finger protein 148
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanYWHAB7529tyrosine 3-monooxygenase/tryptophan 5-monooxygenase activation protein, beta polypeptide
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanEZR7430ezrin
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanVHL7428von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
INFERRED, Score=800, UMLKSK CUI: C0265316
HumanTYR7299tyrosinase
INFERRED, Score=800, UMLKSK CUI: C0265316
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0265316Neurocutaneous Syndromes0self