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Details
Link-It Detail - Disease - beta-Mannosidosis
Debug Stats
  • ### Total Build Time: 41 ms 15.306 KB
  • CONCEPT_NAME gt=11 ms Completed: 11 ms rowSize= 332 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 433 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=2 ms Completed: 2 ms rowSize= 567 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=5 ms Completed: 5 ms rowSize= 2.860 KB
  • CONCEPT_RELATIONSHIPS gt=18 ms Completed: 18 ms rowSize= 9.730 KB
  • CONCEPT_GENES gt=1 ms Completed: 1 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.151 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
beta-Mannosidosis C0342849
Definition (1)
An autosomal recessive lysosomal storage disease characterized by a deficient activity of the enzyme beta-mannosidase. It is caused by mutations in the MANBA gene. Common features of this disorder are mental retardation, developmental delays and recurrent respiratory infections.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Mannosidase Deficiency Diseases C1257960
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Mannosidase Deficiency Diseases C1257960
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Mannosidase Deficiency Diseases C1257960
Relationships (22)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 20
diso_​to_​phen : 1


Relationships:
none : 2
manifestation_​of : 18
mapped_​to : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM4img Beta-mannosidase C0053413
DISO_to_PHEN4img genetic aspects C0017399
DISO_to_DISOmanifestation_ofimg Aggression C0001807
DISO_to_DISOmanifestation_ofimg Angiokeratoma C0002985
DISO_to_DISOpermuted_term_ofimg BETA MANNOSIDASE DEFIC C0342849
DISO_to_DISOmanifestation_ofimg Caused by mutation in the beta-mannosidase gene (MANBA, 609489.0001) C2673439
DISO_to_DISOmanifestation_ofimg Cytoplasmic Vacuolation C0010840
DISO_to_DISOmanifestation_ofimg Deafness C0011053
DISO_to_DISOmanifestation_ofimg Decreased beta-mannosidase activity in plasma, fibroblasts, and leukocytes C1855393
DISO_to_DISOmanifestation_ofimg Demyelinating peripheral neuropathy, progressive (rare) C1855389
DISO_to_DISOmanifestation_ofimg Gilles de la Tourette syndrome (reported in 1 patient) C2673438
DISO_to_DISOmanifestation_ofimg Hyperactive behavior C0424295
DISO_to_DISOmanifestation_ofimg INFECTION, RECURRENT C0239998
DISO_to_DISOmanifestation_ofimg Increased urinary disaccharides (mannosyl-N-acetylglucosamine) C1855394
DISO_to_DISOmanifestation_ofimg Intellectual Disability C0025362
DISO_to_DISOmapped_toimg Lysosomal beta-mannosidase deficiency C2931893
DISO_to_DISOmanifestation_ofimg Mild facial dysmorphism may occur C1855390
DISO_to_DISOmanifestation_ofimg Muscle Hypotonia C0026827
DISO_to_DISOmanifestation_ofimg Seizures (rare) C1855388
DISO_to_DISOmanifestation_ofimg Speech impairment C0233715
DISO_to_DISOmanifestation_ofimg Thenar amyotrophy (rare) C1855392
DISO_to_DISOmanifestation_ofimg Tortuosity of conjunctival vessels C1855391
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0342849beta-Mannosidosis0self