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Details
Link-It Detail - Disease - Pure Autonomic Failure
Debug Stats
  • ### Total Build Time: 78 ms 15.693 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 359 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=11 ms Completed: 11 ms rowSize= 557 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=20 ms Completed: 20 ms rowSize= 1.524 KB
  • CONCEPT_RELATIONSHIPS gt=16 ms Completed: 16 ms rowSize= 3.768 KB
  • CONCEPT_GENES gt=16 ms Completed: 16 ms rowSize= 7.798 KB
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Pure Autonomic Failure C0393911
Definition (1)
A degenerative disease of the AUTONOMIC NERVOUS SYSTEM that is characterized by idiopathic ORTHOSTATIC HYPOTENSION and a greatly reduced level of CATECHOLAMINES. No other neurological deficits are present.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Primary Dysautonomias C0013363
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Autonomic Nervous System Diseases C11456284img Primary Dysautonomias C0013363
Relationships (7)

Relation Types:
diso_​to_​diso : 7


Relationships:
none : 4
associated_​with : 1
permuted_​term_​of : 1
related_​to : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO14img Complication Aspects C1171258
DISO_to_DISO5img Hypotension, Orthostatic C0020651
DISO_to_DISO5img Multiple System Atrophy C0393571
DISO_to_DISO5img Parkinson Disease C0030567
DISO_to_DISOrelated_toimg Multiple System Atrophy C0393571
DISO_to_DISOpermuted_term_ofimg Pure Autonomic Failure C0393911
DISO_to_DISOassociated_withimg Shy-Drager Syndrome C0037019
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanPHOX2B8929paired-like homeobox 2b
img OMIM, Score=819, UMLKSK CUI: C0393911
HumanRET5979ret proto-oncogene
img OMIM, Score=819, UMLKSK CUI: C0393911
HumanGDNF2668glial cell derived neurotrophic factor
img OMIM, Score=819, UMLKSK CUI: C0393911
HumanEDN31908endothelin 3
img OMIM, Score=819, UMLKSK CUI: C0393911
HumanDBH1621dopamine beta-hydroxylase (dopamine beta-monooxygenase)
img GENERIF, Score=1000, Pubmed Id: 12833405, UMLKSK CUI: C0393911
HumanBDNF627brain-derived neurotrophic factor
img OMIM, Score=819, UMLKSK CUI: C0393911
HumanASCL1429achaete-scute complex homolog 1 (Drosophila)
img OMIM, Score=819, UMLKSK CUI: C0393911
HumanAPP351amyloid beta (A4) precursor protein
img GENERIF, Score=1000, Pubmed Id: 18187157, UMLKSK CUI: C0393911
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0393911Pure Autonomic Failure0self