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Details
Link-It Detail - Disease - Bulbo-Spinal Atrophy, X-Linked
Debug Stats
  • ### Total Build Time: 57 ms 30.421 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 434 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 276 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=6 ms Completed: 6 ms rowSize= 1.433 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=6 ms Completed: 6 ms rowSize= 9.353 KB
  • CONCEPT_RELATIONSHIPS gt=29 ms Completed: 29 ms rowSize= 13.421 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 4.139 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.164 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Bulbo-Spinal Atrophy, X-Linked C1839259
SPINAL AND BULBAR MUSCULAR ATROPHY, X-LINKED 1
Definition (1)
An X-linked recessive form of spinal muscular atrophy. It is due to a mutation of the gene encoding the ANDROGEN RECEPTOR.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Genetic Diseases, X-Linked C1138434
img Muscular Atrophy, Spinal C0026847
img Heredodegenerative Disorders, Nervous System C0751870
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Genetic Diseases, X-Linked C1138434
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278684img Muscular Atrophy, Spinal C0026847
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278685img Muscular Atrophy, Spinal C0026847
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248515img Muscular Atrophy, Spinal C0026847
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076825img Muscular Atrophy, Spinal C0026847
img Nervous System Diseases C0027765img Neurodegenerative Diseases C05248514img Heredodegenerative Disorders, Nervous System C0751870
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Heredodegenerative Disorders, Nervous System C0751870
Relationships (39)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 1
diso_​to_​diso : 35
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 5
alias_​of : 1
inheritance_​type_​of : 1
manifestation_​of : 31
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN26img genetic aspects C0017399
DISO_to_CHEM11img Androgen Receptor C0034786
DISO_to_DISO8img Complication Aspects C1171258
DISO_to_ANAT4img Muscle, Skeletal C0242692
DISO_to_DISO4img Expanded Trinucleotide Repeat C0524894
DISO_to_DISOmanifestation_ofimg ATROPHY OF TESTICLE C0156312
DISO_to_DISOmanifestation_ofimg Abnormal lipid profile C0740400
DISO_to_DISOmanifestation_ofimg Allelic disorder to androgen insensitivity syndrome (AIS, 300068) C2677680
DISO_to_DISOmanifestation_ofimg Atrophy and weakness of limb musculature C2677668
DISO_to_DISOmanifestation_ofimg Atrophy and weakness of the tongue, jaw, and throat muscles C2677671
DISO_to_DISOmanifestation_ofimg Bulbar weakness C1301959
DISO_to_DISOpermuted_term_ofimg Bulbo-Spinal Atrophy, X-Linked C1839259
DISO_to_DISOalias_ofimg Bulbospinal neuronopathy, X-linked recessive C2931395
DISO_to_DISOmanifestation_ofimg Calf hypertrophy (uncommon) C2677674
DISO_to_DISOmanifestation_ofimg Caused by a trinucleotide repeat expnasion CAG(n) in the androgen receptor gene (AR, 313700.0014) C2677676
DISO_to_DISOmanifestation_ofimg Childhood onset has been reported C1858490
DISO_to_DISOmanifestation_ofimg Choking C0008301
DISO_to_DISOmanifestation_ofimg Decreased Reflex C0151888
DISO_to_DISOmanifestation_ofimg Decreased or increased serum testosterone C2677675
DISO_to_DISOmanifestation_ofimg Decreased sensory nerve action potentials C1850305
DISO_to_DISOmanifestation_ofimg Deglutition Disorders C0011168
DISO_to_DISOmanifestation_ofimg Distal weakness occurs later C2677670
DISO_to_DISOmanifestation_ofimg Dysarthria C0013362
DISO_to_DISOmanifestation_ofimg Facial Paresis C0427055
DISO_to_DISOmanifestation_ofimg Fasciculation C0015644
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanCASP3836caspase 3, apoptosis-related cysteine peptidase
img GENERIF, Score=1000, Pubmed Id: 12824190, UMLKSK CUI: C1839259
HumanAR367androgen receptor
img GENERIF, Score=734, Pubmed Id: 14999487, UMLKSK CUI: C1839259
img GENERIF, Score=734, Pubmed Id: 17073759, UMLKSK CUI: C1839259
img GAD, Score=1000, Pubmed Id: 14999487, UMLKSK CUI: C1839259
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1839259Bulbo-Spinal Atrophy, X-Linked0self