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Details
Link-It Detail - Disease - Osteochondrodysplasias
Debug Stats
  • ### Total Build Time: 566 ms 42.701 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 197 bytes
  • Skipping details on: CONCEPT_SYNONYM gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_TEXT gt=NONE 1 ms Completed: 1 ms rowSize= 0 bytes
  • CONCEPT_SEMANTIC_TYPE gt=180 ms Completed: 180 ms rowSize= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 564 bytes
  • CONCEPT_CHILDREN gt=35 ms Completed: 35 ms rowSize= 6.594 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.513 KB
  • CONCEPT_RELATIONSHIPS gt=285 ms Completed: 285 ms rowSize= 13.710 KB
  • CONCEPT_GENES gt=51 ms Completed: 51 ms rowSize= 18.383 KB
  • CONCEPT_XREFS gt=5 ms Completed: 5 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Osteochondrodysplasias C0029422
Definition (1)
Abnormal development of cartilage and bone.
Semantic Types (2)
Disease or Syndrome (T047)
Congenital Abnormality (T019)
Parents (1)
img Bone Diseases, Developmental C0005941
Children (15)
img Camurati-Engelmann Syndrome C0011989
img Achondroplasia C0001080
img Langer-Giedion Syndrome C0023003
img Osteosclerosis C0029464
img Hyperostosis, Cortical, Congenital C0020497
img Hyperostosis Frontalis Interna C0020494
img Acquired Hyperostosis Syndrome C0263859
img Ellis-Van Creveld Syndrome C0013903
img Cleidocranial Dysplasia C0008928
img Osteochondroma C0029423
img Enchondromatosis C0014084
img Fibrous Dysplasia of Bone C0016063
img Osteogenesis Imperfecta C0029434
img Chondrodysplasia Punctata C0008445
img Short Rib-Polydactyly Syndrome C0036996
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059404img Bone Diseases, Developmental C0005941
Relationships (163)

Relation Types:
diso_​to_​anat : 6
diso_​to_​chem : 14
diso_​to_​diso : 138
diso_​to_​phen : 2
diso_​to_​phys : 3


Relationships:
none : 40
associated_​with : 1
isa : 18
mapped_​to : 103
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 7
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN249img genetic aspects C0017399
DISO_to_PHEN228img genetic aspects C0017399
DISO_to_DISO72img Complication Aspects C1171258
DISO_to_PHYS67img Mutation C0026882
DISO_to_DISO61img Complication Aspects C1171258
DISO_to_PHYS55img Mutation C0026882
DISO_to_DISO44img Abnormalities, Multiple C0000772
DISO_to_DISO29img Abnormalities, Multiple C0000772
DISO_to_DISO25img Dwarfism C0013336
DISO_to_CHEM23img Extracellular Matrix Protein C0079323
DISO_to_CHEM21img Homeo Domain Proteins C0242617
DISO_to_CHEM18img TRANSCRIPTION FACTOR C0040648
DISO_to_CHEM17img Membrane Transport Proteins C0596902
DISO_to_DISO17img Disease, X-Linked Genetic C1138434
DISO_to_ANAT16img Growth Plate C0018283
DISO_to_CHEM16img Carrier Protein C0007292
DISO_to_CHEM16img Collagen Type II C0009331
DISO_to_DISO16img Disease, Poultry C0032851
DISO_to_DISO15img Immunologic Deficiency Syndromes C0021051
DISO_to_CHEM14img Extracellular Matrix Protein C0079323
DISO_to_CHEM14img Homeo Domain Proteins C0242617
DISO_to_CHEM14img Homeodomain Proteins C0242617
DISO_to_DISO14img Dwarfism C0013336
DISO_to_DISO13img Poultry Diseases C0032851
DISO_to_DISO13img Tracheal Diseases C0040580
Genes (65)

Species:
human : 65
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanSUMF1285362sulfatase modifying factor 1
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanEVC2132884Ellis van Creveld syndrome 2
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanPDB494003Paget disease of bone 4
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanTUBA1C84790tubulin, alpha 1c
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanFAM20C56975family with sequence similarity 20, member C
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanPEX2655670peroxisomal biogenesis factor 26
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanDYM54808dymeclin
img GENERIF, Score=812, Pubmed Id: 12491225, UMLKSK CUI: C0029422
HumanSOST50964sclerostin
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanOSTM128962osteopetrosis associated transmembrane protein 1
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanLEMD323592LEM domain containing 3
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanTCIRG110312T-cell, immune regulator 1, ATPase, H+ transporting, lysosomal V0 subunit A3
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanPLEKHM19842pleckstrin homology domain containing, family M (with RUN domain) member 1
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanSQSTM18878sequestosome 1
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanWISP38838WNT1 inducible signaling pathway protein 3
img GENERIF, Score=1000, Pubmed Id: 17363178, UMLKSK CUI: C0029422
HumanTNFRSF11A8792tumor necrosis factor receptor superfamily, member 11a, NFKB activator
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanTNFSF118600tumor necrosis factor (ligand) superfamily, member 11
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanAGPS8540alkylglycerone phosphate synthase
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanPEX38504peroxisomal biogenesis factor 3
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanALMS17840Alstrom syndrome 1
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanTRPS17227trichorhinophalangeal syndrome I
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanTHRB7068thyroid hormone receptor, beta
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanTGFB27042transforming growth factor, beta 2
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanTGFB17040transforming growth factor, beta 1
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanTBXAS16916thromboxane A synthase 1 (platelet)
INFERRED, Score=800, UMLKSK CUI: C0029422
HumanSRC6714v-src avian sarcoma (Schmidt-Ruppin A-2) viral oncogene homolog
INFERRED, Score=800, UMLKSK CUI: C0029422
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0029422Osteochondrodysplasias0self