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Details
Link-It Detail - Disease - Epstein syndrome (disorder)
Debug Stats
  • ### Total Build Time: 56 ms 16.095 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 352 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=43 ms Completed: 43 ms rowSize= 9.248 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 5.271 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.161 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Epstein syndrome (disorder) C0398641
Relationships (21)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 20


Relationships:
alias_​of : 1
manifestation_​of : 19
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATmanifestation_ofimg Giant platelet (morphologic abnormality) C0333864
DISO_to_DISOmanifestation_ofimg Bleeding episodes occur early in life and may disappear with age C1969591
DISO_to_DISOmanifestation_ofimg Cataract (Alport syndrome with macrothrombocytopenia) C1969583
DISO_to_DISOmanifestation_ofimg Caused by mutation in the myosin, heavy polypeptide-9, nonmuscle gene (MYH9, 160775.0006) C1969590
DISO_to_DISOmanifestation_ofimg Deafness, bilateral sensorineural, high frequency (100% of patients) C2675056
DISO_to_DISOmanifestation_ofimg End stage renal disease (33% of patients) C1969580
DISO_to_DISOalias_ofimg Epstein syndrome (disorder) C0398641
DISO_to_DISOmanifestation_ofimg HEMATURIA, MICROSCOPIC C0239937
DISO_to_DISOmanifestation_ofimg Hypertension, moderate C1969581
DISO_to_DISOmanifestation_ofimg Hypertension, moderate, secondary to renal disease C1969589
DISO_to_DISOmanifestation_ofimg MYH9-positive inclusions on immunohistochemical staining C3149506
DISO_to_DISOmanifestation_ofimg Mild bleeding episodes (epistaxis, GI bleeding, menorrhagia) C1969587
DISO_to_DISOmanifestation_ofimg Nephritis C0027697
DISO_to_DISOused_forimg Nephrotic Syndrome C0027726
DISO_to_DISOmanifestation_ofimg No cataract (Epstein syndrome) C1969584
DISO_to_DISOmanifestation_ofimg No leukocyte inclusion bodies on Giemsa staining C3149505
DISO_to_DISOmanifestation_ofimg Normal to prolonged bleeding time C1838423
DISO_to_DISOmanifestation_ofimg Proteinuria C0033687
DISO_to_DISOmanifestation_ofimg Reduced platelet aggregation response to ADP, collagen, epinephrine C1969586
DISO_to_DISOmanifestation_ofimg Severe thrombocytopenia (30-60 x 10(9)/L) C1969585
DISO_to_DISOmanifestation_ofimg Thrombocytopenia C0040034
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanMYH94627myosin, heavy chain 9, non-muscle
img OMIM, Score=1000, UMLKSK CUI: C0398641
img OMIM, Score=1000, UMLKSK CUI: C0398641
img GENERIF, Score=1000, Pubmed Id: 12649151, UMLKSK CUI: C0398641
img OMIM, Score=1000, UMLKSK CUI: C0398641
img GENERIF, Score=1000, Pubmed Id: 12792306, UMLKSK CUI: C0398641
img OMIM, Score=1000, UMLKSK CUI: C0398641
img GENERIF, Score=1000, Pubmed Id: 11935325, UMLKSK CUI: C0398641
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0398641Epstein syndrome (disorder)0self