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Details
Link-It Detail - Disease - Arthrogryposis
Debug Stats
  • ### Total Build Time: 70 ms 33.557 KB
  • CONCEPT_NAME gt=2 ms Completed: 2 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 218 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= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 1.399 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=1 ms Completed: 1 ms rowSize= 6.672 KB
  • CONCEPT_RELATIONSHIPS gt=60 ms Completed: 60 ms rowSize= 13.537 KB
  • CONCEPT_GENES gt=5 ms Completed: 5 ms rowSize= 10.047 KB
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Arthrogryposis C0003886
Definition (1)
Persistent flexure or contracture of a joint. (Dorland, 27th ed)
Semantic Types (1)
Congenital Abnormality (T019)
Parents (3)
img Joint Diseases C0022408
img Muscular Diseases C0026848
img Musculoskeletal Abnormalities C0151491
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Joint Diseases C00224083img Joint Diseases C0022408
img Nervous System Diseases C0027765img Neuromuscular Diseases C00278684img Muscular Diseases C0026848
img Musculoskeletal Diseases C0026857img Muscular Diseases C00268483img Muscular Diseases C0026848
img Musculoskeletal Diseases C0026857img Musculoskeletal Abnormalities C01514913img Musculoskeletal Abnormalities C0151491
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Musculoskeletal Abnormalities C0151491
Relationships (77)

Relation Types:
diso_​to_​anat : 6
diso_​to_​chem : 2
diso_​to_​diso : 65
diso_​to_​phen : 2
diso_​to_​phys : 2


Relationships:
none : 25
associated_​with : 2
entry_​version_​of : 1
isa : 5
location_​of : 2
mapped_​to : 41
used_​for : 1
Page Size
Current 25
  Page 1 of 4
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN46img genetic aspects C0017399
DISO_to_PHEN44img genetic aspects C0017399
DISO_to_DISO22img Complication Aspects C1171258
DISO_to_DISO18img Complication Aspects C1171258
DISO_to_DISO17img Abnormalities, Multiple C0000772
DISO_to_DISO16img Abnormalities, Multiple C0000772
DISO_to_DISO9img BILIARY STASIS C0008370
DISO_to_PHYS9img Mutation C0026882
DISO_to_ANAT8img Muscle, Skeletal C0242692
DISO_to_DISO8img BILIARY STASIS C0008370
DISO_to_DISO8img Clubfoot C0009081
DISO_to_DISO8img Hereditary Motor and Sensory Neuropathies C0027888
DISO_to_DISO7img Contracture C0009917
DISO_to_DISO7img Trismus C0041105
DISO_to_ANAT6img Elbow Joint C0013770
DISO_to_ANAT6img Knee Joint C0022745
DISO_to_DISO6img Angiomyxoma C0027149
DISO_to_ANAT5img Muscle, Skeletal C0242692
DISO_to_CHEM5img Myosin Heavy Chains C0027100
DISO_to_CHEM5img Tropomyosin C0041197
DISO_to_DISO5img Acidosis, Renal Tubular C0001126
DISO_to_DISO5img Charcot-Marie-Tooth Disease C0007959
DISO_to_DISO5img Clubfoot C0009081
DISO_to_DISO5img Kidney Diseases C0022658
DISO_to_PHYS5img Mutation C0026882
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanVPS33B26276vacuolar protein sorting 33 homolog B (yeast)
img OMIM, Score=1000, UMLKSK CUI: C0003886
HumanNEB4703nebulin
img OMIM, Score=1000, UMLKSK CUI: C0003886
HumanMYH34621myosin, heavy chain 3, skeletal muscle, embryonic
img GENERIF, Score=683, Pubmed Id: 16642020, UMLKSK CUI: C0003886
HumanMPZ4359myelin protein zero
img OMIM, Score=1000, UMLKSK CUI: C0003886
HumanITGB43691integrin, beta 4
img OMIM, Score=1000, UMLKSK CUI: C0003886
HumanITGA63655integrin, alpha 6
img OMIM, Score=1000, UMLKSK CUI: C0003886
HumanGLE12733GLE1 RNA export mediator
img OMIM, Score=1000, UMLKSK CUI: C0003886
HumanGBA2629glucosidase, beta, acid
img OMIM, Score=1000, UMLKSK CUI: C0003886
HumanERBB32065v-erb-b2 avian erythroblastic leukemia viral oncogene homolog 3
img OMIM, Score=1000, UMLKSK CUI: C0003886
HumanEGR21959early growth response 2
img OMIM, Score=1000, UMLKSK CUI: C0003886
HumanCHRNG1146cholinergic receptor, nicotinic, gamma (muscle)
img OMIM, Score=1000, UMLKSK CUI: C0003886
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0003886Arthrogryposis0self