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Details
Link-It Detail - Disease - Galactosemias
Debug Stats
  • ### Total Build Time: 50 ms 34.446 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 629 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=8 ms Completed: 8 ms rowSize= 1.001 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 6.806 KB
  • CONCEPT_RELATIONSHIPS gt=25 ms Completed: 25 ms rowSize= 13.264 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 11.079 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Galactosemias C0016952
Definition (1)
group of inherited enzyme deficiencies which feature elevations of galactose in the blood; this condition may be associated with deficiencies of galactokinase, UDP glucose-hexose-1-phosphate uridylyltransferase (classic form), or UDP glucose 4-epimerase; the classic form presents in infancy with failure to thrive, vomiting, and intracranial hypertension; affected individuals also may develop mental retardation, jaundice, hepatosplenomegaly, ovarian failure and cataracts.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Carbohydrate Metabolism, Inborn Errors C0007001
img Brain Diseases, Metabolic, Inborn C0752109
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Carbohydrate Metabolism, Inborn Errors C0007001
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Carbohydrate Metabolism, Inborn Errors C0007001
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Brain Diseases, Metabolic, Inborn C0752109
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Brain Diseases, Metabolic, Inborn C0752109
img Nervous System Diseases C0027765img Central Nervous System Diseases C00076826img Brain Diseases, Metabolic, Inborn C0752109
Relationships (29)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 7
diso_​to_​diso : 15
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 15
associated_​with : 1
classifies : 2
clinically_​similar : 1
expanded_​form_​of : 1
mapped_​to : 9
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN49img genetic aspects C0017399
DISO_to_PHEN45img genetic aspects C0017399
DISO_to_DISO35img Complication Aspects C1171258
DISO_to_ANAT25img In Blood C0005768
DISO_to_CHEM22img UTP-Hexose-1-Phosphate Uridylyltransferase C0016953
DISO_to_DISO19img Complication Aspects C1171258
DISO_to_CHEM17img Galactose C0016945
DISO_to_CHEM17img UTP-Hexose-1-Phosphate Uridylyltransferase C0016953
DISO_to_CHEM15img Galactose C0016945
DISO_to_ANAT12img In Blood C0005768
DISO_to_PHYS11img Mutation C0026882
DISO_to_CHEM8img Galactosephosphates C0016954
DISO_to_PHYS7img Mutation C0026882
DISO_to_ANAT6img Lens, Crystalline C0023317
DISO_to_CHEM6img UDPglucose-Hexose-1-Phosphate Uridylyltransferase C0019492
DISO_to_CHEMassociated_withimg Galactose C0016945
DISO_to_DISOmapped_toimg Classical galactosaemia, heterozygous type C0268154
DISO_to_DISOmapped_toimg Classical galactosaemia, homozygous Duarte-type C0268152
DISO_to_DISOmapped_toimg Classical galactosaemia, homozygous Negro-type C0268153
DISO_to_DISOmapped_toimg Classical galactosemia C0268151
DISO_to_DISOmapped_toimg Deficiency of galactokinase C0268155
DISO_to_DISOmapped_toimg Disorder of galactose metabolism C0342745
DISO_to_DISOexpanded_form_ofimg Galactosemias C0016952
DISO_to_DISOmapped_toimg Galactosuria C0268157
DISO_to_DISOmapped_toimg Generalised uridine diphosphate galactose-4-epimerase deficiency C0574089
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanSLC25A1310165solute carrier family 25 (aspartate/glutamate carrier), member 13
img OMIM, Score=1000, UMLKSK CUI: C0016952
HumanUGT87368UDP glycosyltransferase 8
img GENERIF, Score=1000, Pubmed Id: 16125333, UMLKSK CUI: C0016952
HumanGALT2592galactose-1-phosphate uridylyltransferase
img GAD, Score=1000, Pubmed Id: 14614623, UMLKSK CUI: C0016952
img GAD, Score=833, Pubmed Id: 8198125, UMLKSK CUI: C0016952
img GAD, Score=1000, Pubmed Id: 11511927, UMLKSK CUI: C0016952
img GAD, Score=1000, Pubmed Id: 11919338, UMLKSK CUI: C0016952
img GAD, Score=1000, Pubmed Id: 7887417, UMLKSK CUI: C0016952
img GENERIF, Score=1000, Pubmed Id: 15506833, UMLKSK CUI: C0016952
HumanGALK12584galactokinase 1
img OMIM, Score=1000, UMLKSK CUI: C0016952
img OMIM, Score=1000, UMLKSK CUI: C0016952
HumanGALE2582UDP-galactose-4-epimerase
img GENERIF, Score=827, Pubmed Id: 16302980, UMLKSK CUI: C0016952
img OMIM, Score=1000, UMLKSK CUI: C0016952
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0016952Galactosemias0self