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Details
Link-It Detail - Disease - Autosomal recessive centronuclear myopathy
Debug Stats
  • ### Total Build Time: 16 ms 15.363 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 382 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
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  • 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
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  • Reload Stats
Disease (1)
Autosomal recessive centronuclear myopathy C0410204
Relationships (35)

Relation Types:
diso_​to_​diso : 35


Relationships:
expanded_​form_​of : 1
manifestation_​of : 34
Page Size
Current 25
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Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg Absent reflex C0234146
DISO_to_DISOexpanded_form_ofimg Autosomal recessive centronuclear myopathy C0410204
DISO_to_DISOmanifestation_ofimg Axial muscle weakness C1843697
DISO_to_DISOmanifestation_ofimg Blepharoptosis C0005745
DISO_to_DISOmanifestation_ofimg Caused by mutation in the bridging integrator 1 gene (BIN1, 601248.0001) C1968627
DISO_to_DISOmanifestation_ofimg Contracture of joint C0009918
DISO_to_DISOmanifestation_ofimg Decremental response to repetitive stimulation at neuromuscular junction C3278539
DISO_to_DISOmanifestation_ofimg Delay in motor development C1864913
DISO_to_DISOmanifestation_ofimg Distal muscle weakness may occur C1968625
DISO_to_DISOmanifestation_ofimg Dysphonia C1527344
DISO_to_DISOmanifestation_ofimg EMG may showed myotonic discharges C3278538
DISO_to_DISOmanifestation_ofimg EMG shows myopathic changes C1864713
DISO_to_DISOmanifestation_ofimg Facial Paresis C0427055
DISO_to_DISOmanifestation_ofimg Feeding difficulties C0232466
DISO_to_DISOmanifestation_ofimg Generalized muscle atrophy C1864915
DISO_to_DISOmanifestation_ofimg Gower sign C0234182
DISO_to_DISOmanifestation_ofimg High-arched palate (1 patient) C3278542
DISO_to_DISOmanifestation_ofimg Hyperlordosis C1846834
DISO_to_DISOmanifestation_ofimg Kyphosis C0022821
DISO_to_DISOmanifestation_ofimg Long face (1 patient) C3278541
DISO_to_DISOmanifestation_ofimg Mental retardation, mild (1 patient) Dysarthria C3278536
DISO_to_DISOmanifestation_ofimg Muscle biopsy shows centralized nuclei C1968626
DISO_to_DISOmanifestation_ofimg Muscle weakness, predominantly proximal C1837234
DISO_to_DISOmanifestation_ofimg Myofibrillar disorganization C3278537
DISO_to_DISOmanifestation_ofimg Neonatal Hypotonia C2267233
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanBIN1274bridging integrator 1
img GENERIF, Score=1000, Pubmed Id: 17676042, UMLKSK CUI: C0410204
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0410204Autosomal recessive centronuclear myopathy0self