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Details
Link-It Detail - Disease - Fechtner syndrome (disorder)
Debug Stats
  • ### Total Build Time: 33 ms 14.406 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 354 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=28 ms Completed: 28 ms rowSize= 8.535 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 4.293 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Fechtner syndrome (disorder) C0403445
Relationships (19)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 18


Relationships:
alias_​of : 1
manifestation_​of : 18
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATmanifestation_ofimg Giant platelet (morphologic abnormality) C0333864
DISO_to_DISOmanifestation_ofimg Allelic to May-Heglin anomaly (155100), Sebastian syndrome (605249), Epstein syndrome (153650), and deafness, autosomal dominant 17 (603622) C2675058
DISO_to_DISOmanifestation_ofimg Cataracts, congenital ICD10CM:Q12.0 C3275988
DISO_to_DISOmanifestation_ofimg Caused by mutation in the myosin, heavy chain 9, non-muscle gene (MYH9, 160775.0005) C1835187
DISO_to_DISOmanifestation_ofimg End stage renal disease (20-40 years)(28% of patients) C1835181
DISO_to_DISOalias_ofimg Fechtner syndrome (disorder) C0403445
DISO_to_DISOmanifestation_ofimg Glaucoma of childhood C2981140
DISO_to_DISOmanifestation_ofimg Hematuria C0018965
DISO_to_DISOmanifestation_ofimg High-tone sensorineural deafness (67% of patients) C2675057
DISO_to_DISOmanifestation_ofimg Leukocyte inclusion bodies (Dohle-like bodies) C1854529
DISO_to_DISOmanifestation_ofimg Leukocyte inclusion bodies (EM) - intermediate filaments and ribosome clusters irregularly dispersed in cytoplasm C1835184
DISO_to_DISOmanifestation_ofimg Median mean platelet volume (MPV) 20fl C1835186
DISO_to_DISOmanifestation_ofimg Moderate to severe thrombocytopenia (30-90 x 10(9)/l) C3149504
DISO_to_DISOmanifestation_ofimg Nephritis C0027697
DISO_to_DISOmanifestation_ofimg Normal platelet aggregation response to epinephrine, arachidonic acid (AA), adenosine 5'-diphosphate (ADP), collagen, and ristocetin C1854527
DISO_to_DISOmanifestation_ofimg Normal to prolonged bleeding time C1838423
DISO_to_DISOmanifestation_ofimg Proteinuria C0033687
DISO_to_DISOmanifestation_ofimg Thrombocytopenia C0040034
DISO_to_DISOmanifestation_ofimg Variable bleeding episodes (menorrhagia, easy bruisability, postoperative hemorrhage) C1835183
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanMYH94627myosin, heavy chain 9, non-muscle
img GENERIF, Score=1000, Pubmed Id: 12649151, UMLKSK CUI: C0403445
img GENERIF, Score=1000, Pubmed Id: 12500226, UMLKSK CUI: C0403445
img OMIM, Score=1000, UMLKSK CUI: C0403445
img GENERIF, Score=1000, Pubmed Id: 12792306, UMLKSK CUI: C0403445
img OMIM, Score=1000, UMLKSK CUI: C0403445
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0403445Fechtner syndrome (disorder)0self