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Details
Link-It Detail - Human Phenotype - Abnormality of carbohydrate metabolism/homeostasis
Debug Stats
  • ### Total Build Time: 41 ms 25.806 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 225 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 347 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 458 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 3.346 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 1.173 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=28 ms Completed: 28 ms rowSize= 19.093 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.044 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of carbohydrate metabolism/homeostasis HP:0011013
Definition (1)
An abnormality of the metabolism (include abnormality of the concentration) of a carbohydrate, including monosaccharides, oligosaccharides and polysaccharides, and substances derived from them.
Parents (1)
img Abnormality of metabolism/homeostasis HP:0001939
Children (10)
img Glycopeptiduria HP:0012067
img Impairment of fructose metabolism HP:0011033
img Abnormality of polysaccharide metabolism HP:0011012
img Glyoxalase deficiency HP:0003258
img Abnormality of glycoside metabolism HP:0003649
img Impairment of galactose metabolism HP:0004915
img Abnormal glycosylation HP:0012345
img Oligosacchariduria HP:0010471
img Abnormality of glycolysis HP:0004366
img Abnormal glucose homeostasis HP:0011014
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
Genes (429)

Species:
human : 429
Page Size
Current 25
  Page 1 of 18
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanDEL17Q12100884130Chromosome 17q12 deletion syndrome
img HP RolledUp, OMIM ID: 614527
HumanDEL2P21100415942Hypotonia-cystinuria syndrome
img HP RolledUp, OMIM ID: 606407
HumanDEL11P15P14100240736Chromosome 11p15-p14 deletion syndrome
HumanNIDDM4100188782Diabetes mellitus, noninsulin-dependent
img HP RolledUp, OMIM ID: 125853
HumanSNORD116-1100033413
HumanPWRN1791114Prader-Willi region non-protein coding RNA 1
HumanDUPC1780895Dupuytren contracture 1
img HP RolledUp, OMIM ID: 126900
HumanGCCD3619477glucocorticoid deficiency 3
HumanMPDMRS574047Martin-Probst deafness-mental retardation syndrome
HumanCISD2493856CDGSH iron sulfur domain 2
img HP RolledUp, OMIM ID: 604928
HumanCOA5493753cytochrome c oxidase assembly factor 5
img HP RolledUp, OMIM ID: 220110
HumanALG11440138ALG11, alpha-1,2-mannosyltransferase
HumanSLC16A12387700solute carrier family 16, member 12
img HP RolledUp, OMIM ID: 612018
HumanLCRB387281locus control region, beta
img HP RolledUp, OMIM ID: 613985
HumanZFP57346171ZFP57 zinc finger protein
HumanSNORD115-1338433
HumanMMAB326625methylmalonic aciduria (cobalamin deficiency) cblB type
HumanSUMF1285362sulfatase modifying factor 1
img HP RolledUp, OMIM ID: 272200
HumanKCTD1284252potassium channel tetramerization domain containing 1
img HP RolledUp, OMIM ID: 181270
HumanPTRF284119polymerase I and transcript release factor
img HP RolledUp, OMIM ID: 613327
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img HP RolledUp, OMIM ID: 130650
HumanRAB40AL282808RAB40A, member RAS oncogene family-like
HumanGCCD2282631Glucocorticoid deficiency 2
HumanPTF1A256297pancreas specific transcription factor, 1a
img HP RolledUp, OMIM ID: 609069
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img HP RolledUp, OMIM ID: 243800
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0011013Abnormality of carbohydrate metabolism/homeostasis0self