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Details
Link-It Detail - Human Phenotype - Abnormality of lysosomal metabolism
Debug Stats
  • ### Total Build Time: 24 ms 12.176 KB
  • CONCEPT_NAME gt=4 ms Completed: 4 ms rowSize= 210 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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= 1.133 KB
  • 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=6 ms Completed: 6 ms rowSize= 6.787 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.029 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of lysosomal metabolism HP:0004356
Parents (2)
img Abnormality of metabolism/homeostasis HP:0001939
img Abnormality of cell physiology HP:0011017
Children (3)
img Elevated serum acid phosphatase HP:0003148
img Deficiency of N-acetylglucosamine-1-phosphotransferase HP:0003264
img Granular osmiophilic deposits (GROD) in cells HP:0003657
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of cell physiology HP:0011017
Genes (7)

Species:
human : 7
SpeciesGeneGeneIdGene NameEvidence
HumanDNAJC580331DnaJ (Hsp40) homolog, subfamily C, member 5
img HP RolledUp, OMIM ID: 204300
img HP RolledUp, OMIM ID: 162350
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
img HP RolledUp, OMIM ID: 252600
img HP RolledUp, OMIM ID: 252500
HumanCLN654982ceroid-lipofuscinosis, neuronal 6, late infantile, variant
img HP RolledUp, OMIM ID: 204300
HumanTNFRSF11B4982tumor necrosis factor receptor superfamily, member 11b
img HP RolledUp, OMIM ID: 239000
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img HP RolledUp, OMIM ID: 309000
HumanCLCN71186chloride channel, voltage-sensitive 7
img HP RolledUp, OMIM ID: 166600
HumanCA2760carbonic anhydrase II
img HP RolledUp, OMIM ID: 259730
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004356Abnormality of lysosomal metabolism0self