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Details
Link-It Detail - Disease - Deformity
Debug Stats
  • ### Total Build Time: 235 ms 23.858 KB
  • CONCEPT_NAME gt=5 ms Completed: 5 ms rowSize= 316 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 235 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=199 ms Completed: 199 ms rowSize= 12.272 KB
  • CONCEPT_GENES gt=18 ms Completed: 18 ms rowSize= 9.834 KB
  • CONCEPT_XREFS gt=11 ms Completed: 11 ms rowSize= 1.144 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Deformity C0302142
Definition (1)
An anatomic abnormality that is either present at birth or appears later in life.
Relationships (71)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 63
diso_​to_​phys : 6


Relationships:
isa : 63
sib_​in_​isa : 8
Page Size
Current 25
  Page 1 of 3
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Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATsib_in_isaimg Functional system C1180473
DISO_to_ANATsib_in_isaimg Segmental innervation C1179684
DISO_to_DISOisaimg ABDOMEN SCAPHOID C0238532
DISO_to_DISOisaimg ACQUIRED MUSCULOSKELETAL DEFORMITIES C0264132
DISO_to_DISOisaimg Abnormal shape of pupil C0271134
DISO_to_DISOisaimg Acquired deformity C0221430
DISO_to_DISOisaimg Acquired deformity of head C1290220
DISO_to_DISOisaimg Acquired deformity of trunk C0521526
DISO_to_DISOisaimg Big jaw C0033324
DISO_to_DISOisaimg Blepharoptosis C0005745
DISO_to_DISOisaimg Brachygnathia C0424720
DISO_to_DISOisaimg C/O: a deformity C0436564
DISO_to_DISOisaimg CHORDEE C0221182
DISO_to_DISOisaimg Carpus curvus C0152441
DISO_to_DISOisaimg Claw-shaped deformity C0333072
DISO_to_DISOisaimg Congenital Abnormalities C0000768
DISO_to_DISOisaimg Congenital abnormal long growth of bile duct C0685805
DISO_to_DISOisaimg Congenital angulated tail C0685611
DISO_to_DISOisaimg Congenital elongated innominate artery C0685757
DISO_to_DISOisaimg Congenital short hard palate C0266087
DISO_to_DISOisaimg Congenital short trunk C0685618
DISO_to_DISOisaimg Congenital shortening of tendon C0265522
DISO_to_DISOisaimg Congenitally short snout C0685886
DISO_to_DISOisaimg Corneal deformity C0155134
DISO_to_DISOisaimg Deformed duodenal bulb C0341254
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanHYLS1219844hydrolethalus syndrome 1
img OMIM, Score=770, UMLKSK CUI: C0302142
HumanPDB494003Paget disease of bone 4
img OMIM, Score=1000, UMLKSK CUI: C0302142
HumanANKH56172ANKH inorganic pyrophosphate transport regulator
img OMIM, Score=790, UMLKSK CUI: C0302142
HumanSQSTM18878sequestosome 1
img OMIM, Score=1000, UMLKSK CUI: C0302142
HumanTNFRSF11A8792tumor necrosis factor receptor superfamily, member 11a, NFKB activator
img OMIM, Score=1000, UMLKSK CUI: C0302142
HumanUPK3A7380uroplakin 3A
img OMIM, Score=1000, UMLKSK CUI: C0302142
HumanTEK7010TEK tyrosine kinase, endothelial
img OMIM, Score=833, UMLKSK CUI: C0302142
HumanRET5979ret proto-oncogene
img OMIM, Score=1000, UMLKSK CUI: C0302142
HumanGBA2629glucosidase, beta, acid
img OMIM, Score=790, UMLKSK CUI: C0302142
HumanCOL11A21302collagen, type XI, alpha 2
img OMIM, Score=833, UMLKSK CUI: C0302142
HumanCOL1A11277collagen, type I, alpha 1
img OMIM, Score=1000, UMLKSK CUI: C0302142
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0302142Deformity0self