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Details
Link-It Detail - Disease - alpha-Mannosidosis
Debug Stats
  • ### Total Build Time: 35 ms 19.101 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 334 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 504 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=0 Completed: 0 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 567 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 2.860 KB
  • CONCEPT_RELATIONSHIPS gt=24 ms Completed: 24 ms rowSize= 13.453 KB
  • CONCEPT_GENES gt=1 ms Completed: 1 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.152 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
alpha-Mannosidosis C0024748
Definition (1)
An inborn error of metabolism marked by a defect in the lysosomal isoform of ALPHA-MANNOSIDASE activity that results in lysosomal accumulation of mannose-rich intermediate metabolites. Virtually all patients have psychomotor retardation, facial coarsening, and some degree of dysostosis multiplex. It is thought to be an autosomal recessive disorder.
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 (71)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 2
diso_​to_​diso : 66
diso_​to_​phen : 2


Relationships:
none : 4
alias_​of : 1
associated_​with : 2
manifestation_​of : 61
mapped_​to : 2
related_​to : 1
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN10img genetic aspects C0017399
DISO_to_PHEN9img genetic aspects C0017399
DISO_to_DISO8img Complication Aspects C1171258
DISO_to_CHEM6img Alpha-mannosidase C0051350
DISO_to_ANATmanifestation_ofimg Palpebronasal fold C0229249
DISO_to_CHEMassociated_withimg Alpha-mannosidase C0051350
DISO_to_DISOassociated_withimg 270 CONGENITAL DEFICIENCIES C0333006
DISO_to_DISOrelated_toimg ALPHA-MANNOSIDOSIS, TYPE II C1855396
DISO_to_DISOmanifestation_ofimg ATAXIC GAIT C0751837
DISO_to_DISOmanifestation_ofimg Abnormal vertebral bodies (ovoid, flat, beaked) C1855416
DISO_to_DISOmapped_toimg Alpha-mannosidosis type 1 C2931251
DISO_to_DISOmapped_toimg Alpha-mannosidosis, adult-onset form C2931252
DISO_to_DISOmanifestation_ofimg Anterior hair whorl C1855421
DISO_to_DISOmanifestation_ofimg Appendicular Ataxia C0750937
DISO_to_DISOmanifestation_ofimg Babinski Reflex C0034935
DISO_to_DISOmanifestation_ofimg Bacterial infections, recurrent C1844383
DISO_to_DISOmanifestation_ofimg Big jaw C0033324
DISO_to_DISOmanifestation_ofimg Bossed forehead C0221354
DISO_to_DISOmanifestation_ofimg Bowed femora C1859461
DISO_to_DISOmanifestation_ofimg Broad forehead C1855408
DISO_to_DISOmanifestation_ofimg Caused by mutation in the alpha-mannosidase gene (MAN2B1, 609458.0001) C1855422
DISO_to_DISOmanifestation_ofimg Coarse facial features C1854600
DISO_to_DISOmanifestation_ofimg Congenital macroglossia C0009677
DISO_to_DISOmanifestation_ofimg Congenital pectus carinatum C0158731
DISO_to_DISOmanifestation_ofimg Corticospinal tract disease in lower limbs (in adulthood) C1855399
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0024748alpha-Mannosidosis0self