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Details
Link-It Detail - Disease - Hypophosphatemic Rickets, X-Linked Dominant
Debug Stats
  • ### Total Build Time: 220 ms 30.663 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 452 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 297 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
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  • CONCEPT_RELATIONSHIPS gt=147 ms Completed: 147 ms rowSize= 14.338 KB
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 2.219 KB
  • CONCEPT_XREFS gt=18 ms Completed: 18 ms rowSize= 1.177 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Hypophosphatemic Rickets, X-Linked Dominant C0733682
Familial hypophosphatemic bone disease
Definition (1)
group of disorders characterized by rickets but not responding to high doses of vitamin D; most are forms of familial hypophosphatemic rickets.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Hypophosphatemia, Familial C0020631
img Rickets C0035579
img Genetic Diseases, X-Linked C1138434
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501236img Hypophosphatemia, Familial C0020631
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255176img Hypophosphatemia, Familial C0020631
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208877img Hypophosphatemia, Familial C0020631
img Male Urogenital Diseases C1720894img Urologic Diseases C00420756img Hypophosphatemia, Familial C0020631
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Rickets C0035579
img Nutritional and Metabolic Diseases C0028715img Nutrition Disorders C00287098img Rickets C0035579
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Rickets C0035579
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Genetic Diseases, X-Linked C1138434
Relationships (58)

Relation Types:
diso_​to_​anat : 3
diso_​to_​chem : 6
diso_​to_​diso : 47
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 10
clinically_​similar : 1
inheritance_​type_​of : 1
is_​associated_​anatomic_​site_​of : 1
is_​normal_​tissue_​origin_​of_​disease : 1
isa : 1
manifestation_​of : 39
use : 4
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN87img genetic aspects C0017399
DISO_to_DISO47img Complication Aspects C1171258
DISO_to_CHEM26img PHEX Phosphate Regulating Neutral Endopeptidase C1621912
DISO_to_CHEM24img Fibroblast Growth Factor C0016026
DISO_to_CHEM24img Fibroblast Growth Factors C0016026
DISO_to_PHYS23img Mutation C0026882
DISO_to_ANAT20img In Blood C0005768
DISO_to_CHEM16img Extracellular Matrix Protein C0079323
DISO_to_CHEM13img Receptors, Calcitriol C0108082
DISO_to_CHEM12img Phosphates C0031603
DISO_to_ANATis_normal_tissue_origin_of_diseaseimg Connective and Soft Tissue C1516798
DISO_to_ANATis_associated_anatomic_site_ofimg Skeletal bone C0262950
DISO_to_DISOmanifestation_ofimg ALKALINE PHOSPHASTASE SERUM INCREASE C0750857
DISO_to_DISOmanifestation_ofimg Abnormal response of 25-hydroxyvitamin D-1-alpha-hydroxylase activity (609506) to hypophosphatemia C1843989
DISO_to_DISOmanifestation_ofimg Arthralgia C0003862
DISO_to_DISOmanifestation_ofimg Bone pain C0151825
DISO_to_DISOmanifestation_ofimg Bossed forehead C0221354
DISO_to_DISOmanifestation_ofimg Bowed legs ICD10CM:M21.16 C3276225
DISO_to_DISOmanifestation_ofimg Calcification of entheses (tendons, ligaments, joint capsules), more common in adults C1843981
DISO_to_DISOmanifestation_ofimg Caused by mutation in the phosphate regulating endopeptidase homolog, X-linked, gene (PHEX, 300550.0001) C1843990
DISO_to_DISOmanifestation_ofimg Compression of spinal cord C0037926
DISO_to_DISOmanifestation_ofimg Curvatures of the femur, tibia, fibula C1833330
DISO_to_DISOmanifestation_ofimg Decreased tubular maximum for phosphate reabsorption per glomerular filtration rate (TmP/GFR) C1843974
DISO_to_DISOmanifestation_ofimg Defect in dentin maturation C1843976
DISO_to_DISOmanifestation_ofimg Deformity of lower limb C1096086
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanFGF238074fibroblast growth factor 23
img OMIM, Score=1000, UMLKSK CUI: C0733682
HumanCTNS1497cystinosin, lysosomal cystine transporter
img OMIM, Score=1000, UMLKSK CUI: C0733682
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0733682Hypophosphatemic Rickets, X-Linked Dominant0self