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Details
Link-It Detail - Disease - Connective Tissue Diseases
Debug Stats
  • ### Total Build Time: 115 ms 46.567 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 377 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=0 Completed: 0 ms rowSize= 571 bytes
  • CONCEPT_CHILDREN gt=4 ms Completed: 4 ms rowSize= 9.934 KB
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 1.139 KB
  • CONCEPT_RELATIONSHIPS gt=32 ms Completed: 32 ms rowSize= 14.313 KB
  • CONCEPT_GENES gt=75 ms Completed: 75 ms rowSize= 18.543 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Connective Tissue Diseases C0009782
Definition (1)
A heterogeneous group of disorders, some hereditary, others acquired, characterized by abnormal structure or function of one or more of the elements of connective tissue, i.e., collagen, elastin, or the mucopolysaccharides.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Skin and Connective Tissue Diseases C0175166
Children (23)
img Pseudoxanthoma Elasticum C0033847
img Cutis Laxa C0010495
img Scleroderma, Systemic C0036421
img Osteopoikilosis C0029455
img Dermatomyositis C0011633
img Cellulitis C0007642
img Lupus Erythematosus, Systemic C0024141
img Mucinoses C0162855
img Cartilage Diseases C0007302
img Marfan Syndrome C0024796
img Noonan Syndrome C0028326
img Neoplasms, Connective Tissue C0027656
img Scleroderma, Localized C0036420
img Lupus Erythematosus, Cutaneous C0024137
img Panniculitis C0030326
img Anetoderma C1288283
img Weill-Marchesani Syndrome C0265313
img Collagen Diseases C0009326
img Mixed Connective Tissue Disease C0026272
img Homocystinuria C0019880
img Penile Induration C0030848
img Rheumatic Diseases C0035435
img Dupuytren Contracture C0013312
Ancestral Roots
RootRoot Plus OneDepthParent
img Skin and Connective Tissue Diseases C01751662img Skin and Connective Tissue Diseases C0175166
Relationships (179)

Relation Types:
diso_​to_​anat : 17
diso_​to_​chem : 11
diso_​to_​diso : 148
diso_​to_​phen : 2
diso_​to_​phys : 1


Relationships:
none : 66
associated_​with : 3
entry_​version_​of : 1
is_​associated_​anatomic_​site_​of : 2
isa : 94
mapped_​to : 4
parent_​is_​cdrh : 1
related_​to : 8
Page Size
Current 25
  Page 1 of 8
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO201img Complication Aspects C1171258
DISO_to_DISO169img Complication Aspects C1171258
DISO_to_PHEN61img genetic aspects C0017399
DISO_to_PHEN49img genetic aspects C0017399
DISO_to_DISO48img Hypertension, Pulmonary C0020542
DISO_to_DISO39img AUTOIMMUNE DIS C0004364
DISO_to_DISO37img Lung Diseases, Interstitial C0206062
DISO_to_ANAT30img In Blood C0005768
DISO_to_CHEM26img Abs - Autoantibodies C0004358
DISO_to_DISO25img AUTOIMMUNE DIS C0004364
DISO_to_ANAT24img In Blood C0005768
DISO_to_CHEM24img Antibodies, Antinuclear C0003243
DISO_to_CHEM21img Antibodies, Antinuclear C0003243
DISO_to_DISO20img Dermatologic disorders C0037274
DISO_to_DISO20img Hypertension, Pulmonary C0020542
DISO_to_DISO19img Pregnancy Complications C0032962
DISO_to_CHEM18img Abs - Autoantibodies C0004358
DISO_to_DISO18img Vasculitis C0042384
DISO_to_ANAT17img Elastic Tissue C0013762
DISO_to_DISO16img Calcinosis C0006663
DISO_to_DISO16img Dermatologic disorders C0037274
DISO_to_DISO16img Lupus Erythematosus, Systemic C0024141
DISO_to_ANAT15img Elastic Tissue C0013762
DISO_to_DISO15img Lung Diseases, Interstitial C0206062
DISO_to_ANAT14img Connective Tissue C0009780
Genes (1216)

Species:
human : 1216
Page Size
Current 25
  Page 1 of 49
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanLOC100507436100507436
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanSLEB5100188798Systemic lupus erythematosus, susceptibility to, 5
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanCD24100133941CD24 molecule
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanKIR2DS2100132285killer cell immunoglobulin-like receptor, two domains, short cytoplasmic tail, 2
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanCCR2729230chemokine (C-C motif) receptor 2
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanCSAG2728461CSAG family, member 2
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanNCF1653361neutrophil cytosolic factor 1
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanXAGE1B653220X antigen family, member 1B
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanBPY2C442868basic charge, Y-linked, 2C
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanMIR16-1406950
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanMIR146A406938microRNA 146a
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanSLEB4404714systemic lupus erythematosus, susceptibility to, 4
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanNCR3259197natural cytotoxicity triggering receptor 3
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanAQPEP206338laeverin
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanADAMTS19171019ADAM metallopeptidase with thrombospondin type 1 motif, 19
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanZNF384171017zinc finger protein 384
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanSLEH1170682systemic lupus erythematosus with hemolytic anemia 1
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanCLEC4C170482C-type lectin domain family 4, member C
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanOLIG3167826oligodendrocyte transcription factor 3
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanTMEM30B161291transmembrane protein 30B
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanCSAG1158511chondrosarcoma associated gene 1
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanIL23R149233interleukin 23 receptor
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanPTPRVP148713protein tyrosine phosphatase, receptor type, V, pseudogene
INFERRED, Score=800, UMLKSK CUI: C0009782
HumanHGSNAT138050heparan-alpha-glucosaminide N-acetyltransferase
INFERRED, Score=800, UMLKSK CUI: C0009782
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0009782Connective Tissue Diseases0self