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Details
Link-It Detail - Disease - Autosomal dominant hypophosphatemic rickets
Debug Stats
  • ### Total Build Time: 13 ms 15.336 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 384 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=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=9 ms Completed: 9 ms rowSize= 10.005 KB
  • CONCEPT_GENES gt=1 ms Completed: 1 ms rowSize= 3.709 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.177 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Autosomal dominant hypophosphatemic rickets C0342642
Relationships (24)

Relation Types:
diso_​to_​diso : 24


Relationships:
alias_​of : 1
manifestation_​of : 23
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOmanifestation_ofimg ALKALINE PHOSPHASTASE SERUM INCREASE C0750857
DISO_to_DISOalias_ofimg Autosomal dominant hypophosphatemic rickets C0342642
DISO_to_DISOmanifestation_ofimg Bone pain C0151825
DISO_to_DISOmanifestation_ofimg Caused by mutation in the fibroblast growth factor 23 gene (FGF23, 605380.0001) C1860416
DISO_to_DISOmanifestation_ofimg DENTAL ABSCESS C0518988
DISO_to_DISOmanifestation_ofimg Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate (TmP/GFR) C1843974
DISO_to_DISOmanifestation_ofimg Generalized weakness (adult-onset) C1860415
DISO_to_DISOmanifestation_ofimg Growth retardation (childhood-onset) C1860408
DISO_to_DISOmanifestation_ofimg HYPOPHOSPHATAEMIA C0085682
DISO_to_DISOmanifestation_ofimg Highly variable phenotype C1865012
DISO_to_DISOmanifestation_ofimg Inappropriately normal serum 1,25-dihydroxyvitamin D3 C1860412
DISO_to_DISOmanifestation_ofimg Incomplete penetrance C1836598
DISO_to_DISOmanifestation_ofimg Lower limb deformities (childhood-onset) C1860410
DISO_to_DISOmanifestation_ofimg Normal serum parathyroid hormone (PTH) C1860414
DISO_to_DISOmanifestation_ofimg Normocalcemia C1860413
DISO_to_DISOmanifestation_ofimg Osteomalacia C0029442
DISO_to_DISOmanifestation_ofimg Pseudofractures (adult-onset) C1860411
DISO_to_DISOmanifestation_ofimg Rarely, patients with childhood-onset may lose the renal phosphate-wasting defect C1860418
DISO_to_DISOmanifestation_ofimg Renal phosphate wasting C1843973
DISO_to_DISOmanifestation_ofimg Rickets (childhood-onset) C1860409
DISO_to_DISOmanifestation_ofimg Short stature (in patients with childhood-onset) C1860407
DISO_to_DISOmanifestation_ofimg Similar phenotype to X-linked hypophosphatemia (XLH, 307800) C1860420
DISO_to_DISOmanifestation_ofimg Treatment with vitamin D and phosphate is effective C1860419
DISO_to_DISOmanifestation_ofimg Two main groups defined by age at onset: childhood (1 to 3 years) and onset after puberty C1860417
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanFGF238074fibroblast growth factor 23
img GENERIF, Score=1000, Pubmed Id: 11805436, UMLKSK CUI: C0342642
img GENERIF, Score=1000, Pubmed Id: 11062477, UMLKSK CUI: C0342642
img GENERIF, Score=771, Pubmed Id: 11737582, UMLKSK CUI: C0342642
HumanPHEX5251phosphate regulating endopeptidase homolog, X-linked
img OMIM, Score=926, UMLKSK CUI: C0342642
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0342642Autosomal dominant hypophosphatemic rickets0self