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Details
Link-It Detail - Disease - Hypophosphatemia, Familial
Debug Stats
  • ### Total Build Time: 63 ms 25.437 KB
  • CONCEPT_NAME gt=10 ms Completed: 10 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 554 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=11 ms Completed: 11 ms rowSize= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 1.424 KB
  • CONCEPT_CHILDREN gt=3 ms Completed: 3 ms rowSize= 581 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 9.406 KB
  • CONCEPT_RELATIONSHIPS gt=23 ms Completed: 23 ms rowSize= 6.277 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 5.508 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hypophosphatemia, Familial C0020631
Definition (1)
An inherited condition of abnormally low serum levels of PHOSPHATES (below 1 mg/liter) which can occur in a number of genetic diseases with defective reabsorption of inorganic phosphorus by the PROXIMAL RENAL TUBULES. This leads to phosphaturia, HYPOPHOSPHATEMIA, and disturbances of cellular and organ functions such as those in X-LINKED HYPOPHOSPHATEMIC RICKETS; OSTEOMALACIA; and FANCONI SYNDROME.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Renal Tubular Transport, Inborn Errors C0035091
img Metal Metabolism, Inborn Errors C0025534
img Hypophosphatemia C0085682
Children (1)
img Hypophosphatemic Rickets, X-Linked Dominant C0733682
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Renal Tubular Transport, Inborn Errors C0035091
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Renal Tubular Transport, Inborn Errors C0035091
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208876img Renal Tubular Transport, Inborn Errors C0035091
img Male Urogenital Diseases C1720894img Urologic Diseases C00420755img Renal Tubular Transport, Inborn Errors C0035091
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Metal Metabolism, Inborn Errors C0025534
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Metal Metabolism, Inborn Errors C0025534
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Hypophosphatemia C0085682
Relationships (14)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 7
diso_​to_​diso : 4
diso_​to_​phen : 2


Relationships:
none : 13
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN54img genetic aspects C0017399
DISO_to_DISO33img Complication Aspects C1171258
DISO_to_CHEM20img Fibroblast Growth Factor C0016026
DISO_to_DISO17img Osteomalacia C0029442
DISO_to_ANAT14img In Blood C0005768
DISO_to_PHEN13img genetic aspects C0017399
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_CHEM10img Phosphates C0031603
DISO_to_CHEM10img Vitamin D C0042866
DISO_to_CHEM7img Fibroblast Growth Factor C0016026
DISO_to_CHEM7img Phosphates C0031603
DISO_to_CHEM7img Proteins C0033684
DISO_to_CHEM7img Receptors, Calcitriol C0108082
DISO_to_DISOpermuted_term_ofimg Familial hypophosphatemia C0020631
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanFGF238074fibroblast growth factor 23
img GENERIF, Score=771, Pubmed Id: 16055933, UMLKSK CUI: C0020631
img GENERIF, Score=734, Pubmed Id: 12854832, UMLKSK CUI: C0020631
HumanPHEX5251phosphate regulating endopeptidase homolog, X-linked
img GENERIF, Score=1000, Pubmed Id: 18625346, UMLKSK CUI: C0020631
img GENERIF, Score=1000, Pubmed Id: 18252791, UMLKSK CUI: C0020631
img GENERIF, Score=771, Pubmed Id: 16055933, UMLKSK CUI: C0020631
HumanCTNS1497cystinosin, lysosomal cystine transporter
INFERRED, Score=800, UMLKSK CUI: C0020631
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0020631Hypophosphatemia, Familial0self