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Details
Link-It Detail - Disease - Bone Diseases, Metabolic
Debug Stats
  • ### Total Build Time: 238 ms 39.068 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 399 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 256 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=0 Completed: 0 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= 549 bytes
  • CONCEPT_CHILDREN gt=6 ms Completed: 6 ms rowSize= 3.096 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.498 KB
  • CONCEPT_RELATIONSHIPS gt=183 ms Completed: 183 ms rowSize= 13.886 KB
  • CONCEPT_GENES gt=31 ms Completed: 31 ms rowSize= 18.044 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.158 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (2)
Bone Diseases, Metabolic C0005944
Metabolic Bone Disorder
Definition (1)
condition in which there is a deviation from or interruption of the normal metabolic pathways of bone.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Bone Diseases C0005940
Children (7)
img Pseudohypoparathyroidism C0033806
img Rickets C0035579
img Osteomalacia C0029442
img Osteoporosis C0029456
img Mucolipidoses C0026697
img Bone Demineralization, Pathologic C0242699
img Renal Osteodystrophy C0035086
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059403img Bone Diseases C0005940
Relationships (113)

Relation Types:
diso_​to_​anat : 13
diso_​to_​chem : 25
diso_​to_​diso : 63
diso_​to_​phen : 2
diso_​to_​phys : 10


Relationships:
none : 78
is_​normal_​tissue_​origin_​of_​disease : 1
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 22
mapped_​to : 7
may_​treat : 3
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 5
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHYS228img Bone Density C0005938
DISO_to_PHYS166img Bone Density C0005938
DISO_to_DISO139img Osteoporosis C0029456
DISO_to_DISO126img Complication Aspects C1171258
DISO_to_ANAT110img BONE BONES C0005931
DISO_to_ANAT103img In Blood C0005768
DISO_to_DISO102img Osteoporosis C0029456
DISO_to_CHEM99img Bone Density Conservation Agents C1563726
DISO_to_DISO83img Complication Aspects C1171258
DISO_to_ANAT75img BONE BONES C0005931
DISO_to_DISO73img chemically induced C0007994
DISO_to_DISO67img chemically induced C0007994
DISO_to_DISO61img Kidney Diseases C0022658
DISO_to_ANAT58img In Blood C0005768
DISO_to_PHEN57img genetic aspects C0017399
DISO_to_CHEM51img Diphosphonates C0012544
DISO_to_DISO46img Fracture C0016658
DISO_to_PHEN43img genetic aspects C0017399
DISO_to_DISO38img Kidney Failure, Chronic C0022661
DISO_to_CHEM34img Vitamin D C0042866
DISO_to_CHEM33img Calcium C0006675
DISO_to_PHYS33img Bone Remodeling C0085268
DISO_to_DISO31img AVITAMINOSIS D C0042870
DISO_to_DISO31img HIV Infections C0019693
DISO_to_PHYS31img Bone Formation C0029433
Genes (122)

Species:
human : 122
Page Size
Current 25
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Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanBMND8100188854bone mineral density quantiative trait locus 8
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanBMND7100188853bone mineral density quantiative trait locus 7
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanTHSD7A221981thrombospondin, type I, domain containing 7A
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanSLC34A3142680solute carrier family 34 (type II sodium/phosphate contransporter), member 3
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanCYP2R1120227cytochrome P450, family 2, subfamily R, polypeptide 1
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanANTXR2118429anthrax toxin receptor 2
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanMCOLN157192mucolipin 1
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanSLC22A1155867solute carrier family 22 (organic anion/urate transporter), member 11
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanPEX2655670peroxisomal biogenesis factor 26
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanBMP2K55589BMP2 inducible kinase
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanSOST50964sclerostin
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanPDE11A50940phosphodiesterase 11A
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanIL1F627179interleukin 36, alpha
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanQPCT25797glutaminyl-peptide cyclotransferase
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanRAB3GAP122930RAB3 GTPase activating protein subunit 1 (catalytic)
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanTCIRG110312T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanEIF2AK39451eukaryotic translation initiation factor 2-alpha kinase 3
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanRECQL49401RecQ protein-like 4
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanSLC9A3R19368solute carrier family 9, subfamily A (NHE3, cation proton antiporter 3), member 3 regulator 1
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanSLC7A79056solute carrier family 7 (amino acid transporter light chain, y+L system), member 7
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanAIP9049aryl hydrocarbon receptor interacting protein
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanIRS28660insulin receptor substrate 2
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanTNFSF118600tumor necrosis factor (ligand) superfamily, member 11
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanPDLIM48572PDZ and LIM domain 4
INFERRED, Score=800, UMLKSK CUI: C0005944
HumanFGF238074fibroblast growth factor 23
INFERRED, Score=800, UMLKSK CUI: C0005944
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0005944Bone Diseases, Metabolic0self