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Details
Link-It Detail - Disease - Bulbar Palsy, Progressive
Debug Stats
  • ### Total Build Time: 92 ms 19.002 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 390 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 838 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.795 KB
  • CONCEPT_RELATIONSHIPS gt=51 ms Completed: 51 ms rowSize= 9.309 KB
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 3.778 KB
  • CONCEPT_XREFS gt=10 ms Completed: 10 ms rowSize= 1.159 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Bulbar Palsy, Progressive C0030442
BULBAR PALSY
Definition (1)
A motor neuron disease marked by progressive weakness of the muscles innervated by cranial nerves of the lower brain stem. Clinical manifestations include dysarthria, dysphagia, facial weakness, tongue weakness, and fasciculations of the tongue and facial muscles. The adult form of the disease is marked initially by bulbar weakness which progresses to involve motor neurons throughout the neuroaxis. Eventually this condition may become indistinguishable from AMYOTROPHIC LATERAL SCLEROSIS. Fazio-Londe syndrome is an inherited form of this illness which occurs in children and young adults. (Adams et al., Principles of Neurology, 6th ed, p1091; Brain 1992 Dec;115(Pt 6):1889-1900)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Motor Neuron Disease C0085084
Ancestral Roots
RootRoot Plus OneDepthParent
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278684img Motor Neuron Disease C0085084
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img Motor Neuron Disease C0085084
Relationships (19)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 15
diso_​to_​phen : 2


Relationships:
none : 8
classifies : 2
is_​associated_​anatomic_​site_​of : 1
is_​finding_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 1
mapped_​to : 4
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO13img Complication Aspects C1171258
DISO_to_PHEN11img genetic aspects C0017399
DISO_to_DISO5img Amyotrophic Lateral Sclerosis C0002736
DISO_to_DISO5img Complication Aspects C1171258
DISO_to_DISO5img Hearing Loss, Sensorineural C0018784
DISO_to_PHEN5img genetic aspects C0017399
DISO_to_DISO4img Amyotrophic Lateral Sclerosis C0002736
DISO_to_DISO4img Deafness C0581883
DISO_to_ANATis_primary_anatomic_site_of_diseaseimg Cranial Nerves C0010268
DISO_to_ANATis_associated_anatomic_site_ofimg Nervous System C0027763
DISO_to_DISOused_forimg A-23 MOTOR NEURON DISEASES C0085084
DISO_to_DISOmapped_toimg BULBAR PALSY C0030442
DISO_to_DISOmapped_toimg BULBAR PALSY, PROGRESSIVE, WITH SENSORINEURAL DEAFNESS C0796274
DISO_to_DISOisaimg Bulbar Palsy, Progressive, Of Childhood C0393540
DISO_to_DISOmapped_toimg Cabot's ring body (morphologic abnormality) C0333813
DISO_to_DISOmapped_toimg Congenital suprabulbar paresis C0796204
DISO_to_DISOis_finding_of_diseaseimg NERVE PALSY C0262576
DISO_to_DISOclassifiesimg Other and unspecified hereditary and degenerative nervous conditions C0810267
DISO_to_DISOclassifiesimg Other hereditary and degenerative nervous system conditions C0809991
Genes (4)

Species:
human : 4
SpeciesGeneGeneIdGene NameEvidence
HumanTRPM754822transient receptor potential cation channel, subfamily M, member 7
img OMIM, Score=1000, UMLKSK CUI: C0030442
HumanATXN16310ataxin 1
img OMIM, Score=1000, UMLKSK CUI: C0030442
HumanGSN2934gelsolin
img OMIM, Score=1000, UMLKSK CUI: C0030442
HumanARSA410arylsulfatase A
img OMIM, Score=1000, UMLKSK CUI: C0030442
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0030442Bulbar Palsy, Progressive0self