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Details
Link-It Detail - Human Phenotype - Abnormality of proteoglycan metabolism
Debug Stats
  • ### Total Build Time: 31 ms 20.379 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 213 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=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=4 ms Completed: 4 ms rowSize= 1.116 KB
  • CONCEPT_CHILDREN gt=5 ms Completed: 5 ms rowSize= 1.116 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 3.055 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 13.707 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.032 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of proteoglycan metabolism HP:0004355
Parents (3)
img Abnormality of glycoprotein metabolism HP:0004367
img Abnormality of metabolism/homeostasis HP:0001939
img Abnormality of polysaccharide metabolism HP:0011012
Children (3)
img Urinary glycosaminoglycan excretion HP:0003541
img Increased serum iduronate sulfatase activity HP:0003538
img Heparan sulfate excretion in urine HP:0002159
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of glycoprotein metabolism HP:0004367
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
img All HP:0000001img Phenotypic abnormality HP:00001186img Abnormality of polysaccharide metabolism HP:0011012
Genes (16)

Species:
human : 16
SpeciesGeneGeneIdGene NameEvidence
HumanSUMF1285362sulfatase modifying factor 1
img HP RolledUp, OMIM ID: 272200
HumanHGSNAT138050heparan-alpha-glucosaminide N-acetyltransferase
img HP RolledUp, OMIM ID: 252930
HumanGNPTAB79158N-acetylglucosamine-1-phosphate transferase, alpha and beta subunits
img HP RolledUp, OMIM ID: 252600
img HP RolledUp, OMIM ID: 252500
HumanSGSH6448N-sulfoglucosamine sulfohydrolase
img HP RolledUp, OMIM ID: 252900
HumanRMRP6023RNA component of mitochondrial RNA processing endoribonuclease
img HP RolledUp, OMIM ID: 250250
HumanNAGLU4669N-acetylglucosaminidase, alpha
img HP RolledUp, OMIM ID: 252920
HumanIDUA3425iduronidase, alpha-L-
img HP RolledUp, OMIM ID: 607016
img HP RolledUp, OMIM ID: 607014
HumanIDS3423iduronate 2-sulfatase
img HP RolledUp, OMIM ID: 309900
HumanHYAL13373hyaluronoglucosaminidase 1
img HP RolledUp, OMIM ID: 601492
HumanGUSB2990glucuronidase, beta
img HP RolledUp, OMIM ID: 253220
HumanGNS2799glucosamine (N-acetyl)-6-sulfatase
img HP RolledUp, OMIM ID: 252940
HumanGLB12720galactosidase, beta 1
img HP RolledUp, OMIM ID: 253010
HumanGALNS2588galactosamine (N-acetyl)-6-sulfate sulfatase
img HP RolledUp, OMIM ID: 253000
HumanFUCA12517fucosidase, alpha-L- 1, tissue
img HP RolledUp, OMIM ID: 230000
HumanARSB411arylsulfatase B
img HP RolledUp, OMIM ID: 253200
HumanACP554acid phosphatase 5, tartrate resistant
img HP RolledUp, OMIM ID: 607944
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0004355Abnormality of proteoglycan metabolism0self