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Details
Link-It Detail - Disease - Osteomalacia
Debug Stats
  • ### Total Build Time: 184 ms 41.502 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 322 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 412 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=9 ms Completed: 9 ms rowSize= 1.411 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=9 ms Completed: 9 ms rowSize= 4.089 KB
  • CONCEPT_RELATIONSHIPS gt=139 ms Completed: 139 ms rowSize= 13.463 KB
  • CONCEPT_GENES gt=18 ms Completed: 18 ms rowSize= 20.457 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Osteomalacia C0029442
Definition (1)
A condition marked by softening of the bones (due to impaired mineralization, with excess accumulation of osteoid), with pain, tenderness, muscular weakness, anorexia, and loss of weight, resulting from deficiency of vitamin D and calcium. (Dorland, 27th ed)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (3)
img Calcium Metabolism Disorders C0006705
img Vitamin D Deficiency C0042870
img Bone Diseases, Metabolic C0005944
Ancestral Roots
RootRoot Plus OneDepthParent
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img Calcium Metabolism Disorders C0006705
img Nutritional and Metabolic Diseases C0028715img Nutrition Disorders C00287097img Vitamin D Deficiency C0042870
img Musculoskeletal Diseases C0026857img Bone Diseases C00059404img Bone Diseases, Metabolic C0005944
Relationships (48)

Relation Types:
diso_​to_​anat : 5
diso_​to_​chem : 4
diso_​to_​diso : 37
diso_​to_​gene : 2


Relationships:
none : 24
associated_​with : 1
classifies : 2
clinically_​similar : 5
gene_​associated_​with_​disease : 2
is_​associated_​anatomic_​site_​of : 2
isa : 4
location_​of : 1
mapped_​to : 7
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO37img Complication Aspects C1171258
DISO_to_DISO35img HYPOPHOSPHATAEMIA C0085682
DISO_to_CHEM33img Fibroblast Growth Factor C0016026
DISO_to_CHEM33img Fibroblast Growth Factors C0016026
DISO_to_DISO30img Complication Aspects C1171258
DISO_to_ANAT26img In Blood C0005768
DISO_to_DISO26img chemically induced C0007994
DISO_to_DISO24img Mesenchymoma C0025464
DISO_to_CHEM23img Fibroblast Growth Factor C0016026
DISO_to_DISO23img AVITAMINOSIS D C0042870
DISO_to_DISO23img PARANEOPL SYNDROMES C0030472
DISO_to_ANAT22img In Blood C0005768
DISO_to_DISO21img AVITAMINOSIS D C0042870
DISO_to_DISO21img Bone Neoplasms C0005967
DISO_to_DISO21img chemically induced C0007994
DISO_to_DISO18img HYPOPHOSPHATAEMIA C0085682
DISO_to_DISO17img Bone Neoplasms C0005967
DISO_to_DISO17img Familial hypophosphatemia C0020631
DISO_to_DISO17img PARANEOPL SYNDROMES C0030472
DISO_to_DISO17img Rickets C0035579
DISO_to_CHEM16img Vitamin D C0042866
DISO_to_DISO16img Mesenchymoma C0025464
DISO_to_DISO14img Osteoporosis C0029456
DISO_to_DISO14img Soft Tissue Neoplasms C0037579
DISO_to_ANATis_associated_anatomic_site_ofimg Connective and Soft Tissue C1516798
Genes (10)

Species:
human : 10
SpeciesGeneGeneIdGene NameEvidence
HumanFGF238074fibroblast growth factor 23
img OMIM, Score=1000, UMLKSK CUI: C0029442
img NCI, Score=801, Pubmed Id: 14733920, UMLKSK CUI: C0029442
img NCI, Score=801, Pubmed Id: 12032146, UMLKSK CUI: C0029442
img NCI, Score=801, Pubmed Id: 11344269, UMLKSK CUI: C0029442
img NCI, Score=801, Pubmed Id: 12130585, UMLKSK CUI: C0029442
img NCI, Score=801, Pubmed Id: 12854832, UMLKSK CUI: C0029442
img NCI, Score=801, Pubmed Id: 12187320, UMLKSK CUI: C0029442
img NCI, Score=801, Pubmed Id: 12952917, UMLKSK CUI: C0029442
img NCI, Score=801, Pubmed Id: 12105387, UMLKSK CUI: C0029442
img NCI, Score=801, Pubmed Id: 12791601, UMLKSK CUI: C0029442
img NCI, Score=801, Pubmed Id: 14730508, UMLKSK CUI: C0029442
HumanVDR7421vitamin D (1,25- dihydroxyvitamin D3) receptor
img GENERIF, Score=1000, Pubmed Id: 14691685, UMLKSK CUI: C0029442
HumanSLC4A16521solute carrier family 4 (anion exchanger), member 1
img OMIM, Score=1000, UMLKSK CUI: C0029442
HumanSLC2A26514solute carrier family 2 (facilitated glucose transporter), member 2
img OMIM, Score=1000, UMLKSK CUI: C0029442
HumanSFRP46424secreted frizzled-related protein 4
img NCI, Score=801, Pubmed Id: 14730508, UMLKSK CUI: C0029442
img NCI, Score=801, Pubmed Id: 12952927, UMLKSK CUI: C0029442
img NCI, Score=801, Pubmed Id: 15470265, UMLKSK CUI: C0029442
HumanPHEX5251phosphate regulating endopeptidase homolog, X-linked
img OMIM, Score=1000, UMLKSK CUI: C0029442
img NCI, Score=801, Pubmed Id: 12791601, UMLKSK CUI: C0029442
img NCI, Score=801, Pubmed Id: 14730508, UMLKSK CUI: C0029442
HumanOCRL4952oculocerebrorenal syndrome of Lowe
img OMIM, Score=1000, UMLKSK CUI: C0029442
HumanCLCN51184chloride channel, voltage-sensitive 5
img OMIM, Score=1000, UMLKSK CUI: C0029442
HumanATP7B540ATPase, Cu++ transporting, beta polypeptide
img OMIM, Score=1000, UMLKSK CUI: C0029442
HumanALPL249alkaline phosphatase, liver/bone/kidney
img OMIM, Score=1000, UMLKSK CUI: C0029442
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0029442Osteomalacia0self