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Details
Link-It Detail - Human Phenotype - Abnormality of calcium-phosphate metabolism
Debug Stats
  • ### Total Build Time: 49 ms 18.983 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 218 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=24 ms Completed: 24 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 791 bytes
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 797 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 2.104 KB
  • CONCEPT_RELATIONSHIPS gt=0 Completed: 0 ms rowSize= 106 bytes
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 13.934 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.037 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Human Phenotype (1)
Abnormality of calcium-phosphate metabolism HP:0100530
Parents (2)
img Abnormality of ion homeostasis HP:0003111
img Abnormality of metabolism/homeostasis HP:0001939
Children (2)
img Elevated calcitonin HP:0003528
img Elevated circulating parathyroid hormone (PTH) level HP:0003165
Ancestral Roots
RootRoot Plus OneDepthParent
img All HP:0000001img Phenotypic abnormality HP:00001185img Abnormality of ion homeostasis HP:0003111
img All HP:0000001img Phenotypic abnormality HP:00001184img Abnormality of metabolism/homeostasis HP:0001939
Genes (16)

Species:
human : 16
SpeciesGeneGeneIdGene NameEvidence
HumanHPRHP100188880Hypophosphatemic rickets and hyperparathyroidism
img HP RolledUp, OMIM ID: 612089
HumanGNAS-AS1149775
img HP RolledUp, OMIM ID: 603233
HumanCLDN19149461claudin 19
img HP TAS, OMIM ID: 248190
HumanSOST50964sclerostin
img HP RolledUp, OMIM ID: 122860
HumanSTX168675syntaxin 16
img HP RolledUp, OMIM ID: 603233
HumanVDR7421vitamin D (1,25- dihydroxyvitamin D3) receptor
img HP RolledUp, OMIM ID: 277440
HumanRET5979ret proto-oncogene
img HP RolledUp, OMIM ID: 171400
img HP RolledUp, OMIM ID: 162300
HumanPTH1R5745parathyroid hormone 1 receptor
img HP TAS, OMIM ID: 156400
HumanPRKAR1A5573protein kinase, cAMP-dependent, regulatory, type I, alpha
img HP RolledUp, OMIM ID: 101800
HumanPHEX5251phosphate regulating endopeptidase homolog, X-linked
img HP RolledUp, OMIM ID: 307800
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img HP TAS, OMIM ID: 309000
HumanHPT3258hypoparathyroidism
img HP TAS, OMIM ID: 307700
HumanGNAS2778GNAS complex locus
img HP RolledUp, OMIM ID: 603233
img HP RolledUp, OMIM ID: 612462
img HP TAS, OMIM ID: 103580
HumanCYP27B11594cytochrome P450, family 27, subfamily B, polypeptide 1
img HP RolledUp, OMIM ID: 264700
HumanCASR846calcium-sensing receptor
img HP TAS, OMIM ID: 239200
HumanAIRE326autoimmune regulator
img HP TAS, OMIM ID: 240300
XRefs (1)

XRef Types:
hp : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
HPimg HP:0100530Abnormality of calcium-phosphate metabolism0self