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Details
Link-It Detail - Disease - Costello Syndrome
Debug Stats
  • ### Total Build Time: 59 ms 31.374 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 581 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=1 ms Completed: 1 ms rowSize= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 1.412 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 5.498 KB
  • CONCEPT_RELATIONSHIPS gt=45 ms Completed: 45 ms rowSize= 13.852 KB
  • CONCEPT_GENES gt=3 ms Completed: 3 ms rowSize= 8.293 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Costello Syndrome C0587248
Definition (1)
Rare congenital disorder with multiple anomalies including: characteristic dysmorphic craniofacial features, musculoskeletal abnormalities, neurocognitive delay, and high prevalence of cancer. Germline mutations in H-Ras protein can cause Costello syndrome. Costello syndrome shows early phenotypic overlap with other disorders that involve MAP KINASE SIGNALING SYSTEM (e.g., NOONAN SYNDROME and cardiofaciocutaneous syndrome).
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (3)
img Craniofacial Abnormalities C0376634
img Genetic Diseases, Inborn C0950123
img Abnormalities, Multiple C0000772
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514914img Craniofacial Abnormalities C0376634
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Craniofacial Abnormalities C0376634
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
Relationships (98)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 1
diso_​to_​diso : 95
diso_​to_​phen : 1


Relationships:
none : 3
alias_​of : 1
inheritance_​type_​of : 1
manifestation_​of : 91
may_​be_​associated_​disease_​of_​disease : 1
related_​to : 1
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN21img genetic aspects C0017399
DISO_to_CHEM13img Proto-Oncogene Proteins p21(ras) C0080058
DISO_to_DISO9img Complication Aspects C1171258
DISO_to_ANATmanifestation_ofimg Palpebronasal fold C0229249
DISO_to_DISOmanifestation_ofimg Abnormally short neck C0521525
DISO_to_DISOmanifestation_ofimg Acanthosis Nigricans C0000889
DISO_to_DISOmanifestation_ofimg Acoustic Neuroma C0027859
DISO_to_DISOmanifestation_ofimg Alveolar capillary dysplasia C2677362
DISO_to_DISOmanifestation_ofimg Anteverted nostrils C1837721
DISO_to_DISOmanifestation_ofimg Arrhythmias, Cardiac C0003811
DISO_to_DISOmanifestation_ofimg Associated with advanced paternal age C1857548
DISO_to_DISOmanifestation_ofimg Atrial septal defect ICD10CM:Q21.1 C3276093
DISO_to_DISOmanifestation_ofimg Barrel chest C0264172
DISO_to_DISOmanifestation_ofimg Blepharoptosis C0005745
DISO_to_DISOmanifestation_ofimg Brain atrophy C0235946
DISO_to_DISOmanifestation_ofimg Bronchomalacia C0264353
DISO_to_DISOmanifestation_ofimg Byzanthine arch palate C0240635
DISO_to_DISOmanifestation_ofimg Carcinoma of bladder C0699885
DISO_to_DISOmanifestation_ofimg Cardiomyopathy, Hypertrophic C0007194
DISO_to_DISOmanifestation_ofimg Caused by mutation in the V-Ha-RAS Harvey rat sarcoma viral oncogene homolog gene (HRAS, 190020.0001) C1968783
DISO_to_DISOmanifestation_ofimg Cerebellar tonsillar herniation C3278025
DISO_to_DISOmanifestation_ofimg Cerebral ventriculomegaly C1531647
DISO_to_DISOmanifestation_ofimg Characteristic facial features become more apparent with age C2749706
DISO_to_DISOmanifestation_ofimg Cheeks full C1866231
DISO_to_DISOmanifestation_ofimg Chiari I malformation C1857474
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanPTPN115781protein tyrosine phosphatase, non-receptor type 11
img GENERIF, Score=1000, Pubmed Id: 12752577, UMLKSK CUI: C0587248
HumanMAP2K25605mitogen-activated protein kinase kinase 2
img GENERIF, Score=1000, Pubmed Id: 17366577, UMLKSK CUI: C0587248
img OMIM, Score=1000, UMLKSK CUI: C0587248
HumanKRAS3845Kirsten rat sarcoma viral oncogene homolog
img GENERIF, Score=1000, Pubmed Id: 17704260, UMLKSK CUI: C0587248
HumanHRAS3265Harvey rat sarcoma viral oncogene homolog
img GENERIF, Score=1000, Pubmed Id: 18039947, UMLKSK CUI: C0587248
img GENERIF, Score=1000, Pubmed Id: 16969868, UMLKSK CUI: C0587248
img GENERIF, Score=1000, Pubmed Id: 16881968, UMLKSK CUI: C0587248
img GENERIF, Score=1000, Pubmed Id: 18247425, UMLKSK CUI: C0587248
HumanBRAF673v-raf murine sarcoma viral oncogene homolog B
img OMIM, Score=1000, UMLKSK CUI: C0587248
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0587248Costello Syndrome0self