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Details
Link-It Detail - Disease - May-Hegglin anomaly
Debug Stats
  • ### Total Build Time: 30 ms 13.770 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 336 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=0 Completed: 0 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=21 ms Completed: 21 ms rowSize= 7.003 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 5.215 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.153 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
May-Hegglin anomaly C0340978
Relationships (14)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 12
diso_​to_​gene : 1


Relationships:
expanded_​form_​of : 1
manifestation_​of : 12
related_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATmanifestation_ofimg Giant platelet (morphologic abnormality) C0333864
DISO_to_DISOmanifestation_ofimg Abnormal or prolonged bleeding time C0151529
DISO_to_DISOmanifestation_ofimg Caused by mutation in the myosin, heavy polypeptide-9, nonmuscle gene (MYH9, 160775.0001) C1969569
DISO_to_DISOexpanded_form_ofimg May-Hegglin anomaly C0340978
DISO_to_DISOmanifestation_ofimg Median mean platelet volume (MPV) 12.5fL C2675050
DISO_to_DISOmanifestation_ofimg Mild-significant bleeding episodes (epistaxis, easy bruisability, postoperative hemorrhage, menorrhagia) C1969566
DISO_to_DISOmanifestation_ofimg Most common inherited giant platelet disorder C1969570
DISO_to_DISOmanifestation_ofimg Myocardial infarction (secondary to coronary artery thrombosis) C1969568
DISO_to_DISOmanifestation_ofimg No kidney disease C1838421
DISO_to_DISOmanifestation_ofimg Normal platelet aggregation response to epinephrine, ADP, collagen, and ristocetin C1969565
DISO_to_DISOmanifestation_ofimg Sky-blue leukocyte inclusion bodies (Dohle-like bodies) that contain clusters of ribosomes oriented along parallel microfilaments C1969567
DISO_to_DISOmanifestation_ofimg Thrombocytopenia C0040034
DISO_to_DISOmanifestation_ofimg Thrombocytopenia, mild-moderate (60-100 x 10(9)/L) C2675049
DISO_to_GENErelated_toimg FECHTNER SYNDROME, ARG702CYS C1834472
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanMYH94627myosin, heavy chain 9, non-muscle
img GENERIF, Score=1000, Pubmed Id: 11590545, UMLKSK CUI: C0340978
img GENERIF, Score=1000, Pubmed Id: 12649151, UMLKSK CUI: C0340978
img OMIM, Score=1000, UMLKSK CUI: C0340978
img OMIM, Score=1000, UMLKSK CUI: C0340978
img GENERIF, Score=1000, Pubmed Id: 12792306, UMLKSK CUI: C0340978
HumanCOL4A51287collagen, type IV, alpha 5
img OMIM, Score=1000, UMLKSK CUI: C0340978
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0340978May-Hegglin anomaly0self