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Details
Link-It Detail - Human Phenotype - Abnormality of glycosphingolipid metabolism
Debug Stats
  • ### Total Build Time: 24 ms 12.761 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 218 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 217 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 791 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 802 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.104 KB
  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 7.494 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.037 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of glycosphingolipid metabolism HP:0004343
Definition (1)
An abnormality of `glycosphingolipid` (CHEBI:24402) metabolism.
Parents (2)
img Abnormality of lipid metabolism HP:0003119
img Abnormality of glycolipid metabolism HP:0010969
Children (2)
img Abnormality of ganglioside metabolism HP:0004345
img Abnormality of cerebrosidase metabolism HP:0004344
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of lipid metabolism HP:0003119
img All HP:0000001img Phenotypic abnormality HP:00001187img Abnormality of glycolipid metabolism HP:0010969
Genes (8)

Species:
human : 8
SpeciesGeneGeneIdGene NameEvidence
HumanGNPTG84572N-acetylglucosamine-1-phosphate transferase, gamma subunit
img HP RolledUp, OMIM ID: 252605
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
img HP RolledUp, OMIM ID: 252600
img HP RolledUp, OMIM ID: 252500
HumanMCOLN157192mucolipin 1
img HP RolledUp, OMIM ID: 252650
HumanPSAP5660prosaposin
img HP PCS, OMIM ID: 611721
HumanHEXB3074hexosaminidase B (beta polypeptide)
img HP IEA, OMIM ID: 268800
HumanHEXA3073hexosaminidase A (alpha polypeptide)
img HP RolledUp, OMIM ID: 272800
HumanGM2A2760GM2 ganglioside activator
img HP RolledUp, OMIM ID: 272750
HumanGBA2629glucosidase, beta, acid
img HP RolledUp, OMIM ID: 231000
img HP RolledUp, OMIM ID: 608013
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004343Abnormality of glycosphingolipid metabolism0self