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Details
Link-It Detail - Disease - Amyloid Neuropathies
Debug Stats
  • ### Total Build Time: 32 ms 18.076 KB
  • CONCEPT_NAME gt=1 ms Completed: 1 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 577 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 999 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 568 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=13 ms Completed: 13 ms rowSize= 2.803 KB
  • CONCEPT_RELATIONSHIPS gt=2 ms Completed: 2 ms rowSize= 7.393 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 4.092 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Amyloid Neuropathies C0206247
Definition (1)
Disorders of the peripheral nervous system associated with the deposition of AMYLOID in nerve tissue. Familial, primary (nonfamilial), and secondary forms have been described. Some familial subtypes demonstrate an autosomal dominant pattern of inheritance. Clinical manifestations include sensory loss, mild weakness, autonomic dysfunction, and CARPAL TUNNEL SYNDROME. (Adams et al., Principles of Neurology, 6th ed, p1349)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Peripheral Nervous System Diseases C0031117
img Amyloidosis C0002726
Children (1)
img Amyloid Neuropathies, Familial C0206245
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278684img Peripheral Nervous System Diseases C0031117
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Amyloidosis C0002726
Relationships (14)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 3
diso_​to_​diso : 7
diso_​to_​phen : 2


Relationships:
none : 8
associated_​with : 1
is_​associated_​anatomic_​site_​of : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 1
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN17img genetic aspects C0017399
DISO_to_PHEN15img genetic aspects C0017399
DISO_to_CHEM12img Prealbumin C0032923
DISO_to_CHEM8img Prealbumin C0032923
DISO_to_DISO7img Complication Aspects C1171258
DISO_to_DISO6img Complication Aspects C1171258
DISO_to_CHEM5img Amyloid C0002716
DISO_to_DISO5img Amyloidosis C0002726
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Peripheral Nerves C0031119
DISO_to_DISOassociated_withimg AA amyloidosis C0221014
DISO_to_DISOpermuted_term_ofimg Amyloid Neuropathies C0206247
DISO_to_DISOisaimg Amyloid Neuropathies, Familial C0206245
DISO_to_DISOmapped_toimg Amyloid Neuropathies, Primary (nonfamilial) C2930800
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanTTR7276transthyretin
img GAD, Score=1000, Pubmed Id: 11870693, UMLKSK CUI: C0206247
HumanRBP45950retinol binding protein 4, plasma
img GENERIF, Score=1000, Pubmed Id: 15649951, UMLKSK CUI: C0206247
HumanAPP351amyloid beta (A4) precursor protein
INFERRED, Score=800, UMLKSK CUI: C0206247
HumanAPCS325amyloid P component, serum
img GENERIF, Score=1000, Pubmed Id: 15649951, UMLKSK CUI: C0206247
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0206247Amyloid Neuropathies0self