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Details
Link-It Detail - Disease - Cafe-au-Lait Spots
Debug Stats
  • ### Total Build Time: 95 ms 39.606 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 334 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 279 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=8 ms Completed: 8 ms rowSize= 995 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=19 ms Completed: 19 ms rowSize= 2.811 KB
  • CONCEPT_RELATIONSHIPS gt=33 ms Completed: 33 ms rowSize= 8.863 KB
  • CONCEPT_GENES gt=19 ms Completed: 19 ms rowSize= 24.991 KB
  • CONCEPT_XREFS gt=12 ms Completed: 12 ms rowSize= 1.152 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Cafe-au-Lait Spots C0221263
Definition (1)
A light brown, sharply demarcated skin patch. It is a manifestation of neurofibromatosis type 1 and McCune-Albright syndrome.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Pigmentation Disorders C0549567
img Skin Manifestations C0037285
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372744img Pigmentation Disorders C0549567
img Pathological Conditions, Signs and Symptoms C0039058img Signs and Symptoms C00370884img Skin Manifestations C0037285
Relationships (18)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 12
diso_​to_​phen : 2


Relationships:
none : 8
disease_​has_​finding : 2
disease_​may_​have_​finding : 2
location_​of : 1
mapped_​to : 3
may_​prevent : 1
mth_​has_​plain_​text_​form : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO18img Complication Aspects C1171258
DISO_to_PHEN17img genetic aspects C0017399
DISO_to_DISO16img Neurofibromatosis 1 C0027831
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_DISO10img Neurofibromatosis 1 C0027831
DISO_to_PHEN9img genetic aspects C0017399
DISO_to_CHEM7img Intracellular Signaling Peptides and Proteins C1449791
DISO_to_CHEM7img Membrane Associated Proteins C0025252
DISO_to_ANATlocation_ofimg Skin C1123023
DISO_to_CHEMmay_preventimg ZINC (AS ZINC OXIDE) C1177228
DISO_to_DISOmth_has_plain_text_formimg CAFE AU LAIT SPOT C0221263
DISO_to_DISOmapped_toimg Cafe au lait spots, multiple C1861975
DISO_to_DISOmapped_toimg Gastrocutaneous syndrome C1850899
DISO_to_DISOdisease_may_have_findingimg Juvenile Myelomonocytic Leukemia C0349639
DISO_to_DISOdisease_has_findingimg McCune-Albright Syndrome C0242292
DISO_to_DISOmapped_toimg NEUROFIBROMATOSIS, TYPE 1-LIKE SYNDROME C1969623
DISO_to_DISOdisease_has_findingimg Neurofibromatosis 1 C0027831
DISO_to_DISOdisease_may_have_findingimg Turcot Syndrome Type 1 C1519702
Genes (26)

Species:
human : 26
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanKIF1B23095kinesin family member 1B
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanVHL7428von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanTSC27249tuberous sclerosis 2
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanTSC17248tuberous sclerosis 1
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanSDHD6392succinate dehydrogenase complex, subunit D, integral membrane protein
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanSDHB6390succinate dehydrogenase complex, subunit B, iron sulfur (Ip)
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanRET5979ret proto-oncogene
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanPTPN115781protein tyrosine phosphatase, non-receptor type 11
img GENERIF, Score=1000, Pubmed Id: 12161596, UMLKSK CUI: C0221263
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanPTEN5728phosphatase and tensin homolog
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanPMS25395PMS2 postmeiotic segregation increased 2 (S. cerevisiae)
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanNF14763neurofibromin 1
img GENERIF, Score=1000, Pubmed Id: 17914445, UMLKSK CUI: C0221263
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanNBN4683nibrin
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanMSH24436mutS homolog 2, colon cancer, nonpolyposis type 1 (E. coli)
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanMLH14292mutL homolog 1, colon cancer, nonpolyposis type 2 (E. coli)
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanIFNG3458interferon, gamma
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanMSH62956mutS homolog 6 (E. coli)
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanGNAS2778GNAS complex locus
img OMIM, Score=926, UMLKSK CUI: C0221263
HumanGDNF2668glial cell derived neurotrophic factor
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanFANCA2175Fanconi anemia, complementation group A
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanEP3002033E1A binding protein p300
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanCREBBP1387CREB binding protein
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanBLM641Bloom syndrome, RecQ helicase-like
img OMIM, Score=1000, UMLKSK CUI: C0221263
HumanATM472ataxia telangiectasia mutated
img OMIM, Score=1000, UMLKSK CUI: C0221263
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0221263Cafe-au-Lait Spots0self