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Details
Link-It Detail - Disease - BRACHYDACTYLY
Debug Stats
  • ### Total Build Time: 32 ms 42.471 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 209 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= 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=17 ms Completed: 17 ms rowSize= 13.037 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 27.695 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
BRACHYDACTYLY C0221357
Definition (1)
Congenital anomaly of abnormally short fingers or toes.
Relationships (44)

Relation Types:
diso_​to_​anat : 3
diso_​to_​diso : 40
diso_​to_​phen : 1


Relationships:
none : 2
associated_​with : 1
isa : 10
location_​of : 2
mapped_​to : 28
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN8img genetic aspects C0017399
DISO_to_ANAT3img Fingers C0016129
DISO_to_ANATlocation_ofimg Structure of all fingers C0230409
DISO_to_ANATlocation_ofimg Structure of all toes C0230507
DISO_to_DISOmapped_toimg ABSENT MIDDLE PHALANGES OF DIGITS 2-5 WITH NAIL DYSPLASIA C1862138
DISO_to_DISOassociated_withimg Abnormally short growth C0332895
DISO_to_DISOmapped_toimg Anonychia-onychodystrophy with brachydactyly type B and ectrodactyly C1862842
DISO_to_DISOmapped_toimg BDA3 C1862140
DISO_to_DISOmapped_toimg BDA4 C1862139
DISO_to_DISOmapped_toimg BDA6 C1862130
DISO_to_DISOmapped_toimg BILGINTURAN SYNDROME C1862170
DISO_to_DISOmapped_toimg BORK SYNDROME C1860605
DISO_to_DISOpermuted_term_ofimg BRACHYDACTYLY C0221357
DISO_to_DISOmapped_toimg BRACHYDACTYLY, BALLARD TYPE C1862163
DISO_to_DISOmapped_toimg BRACHYDACTYLY, TYPE A1 (disorder) C1862151
DISO_to_DISOmapped_toimg BRACHYDACTYLY, TYPE A2 C1832702
DISO_to_DISOmapped_toimg BRACHYDACTYLY-DISTAL SYMPHALANGISM SYNDROME C1862092
DISO_to_DISOmapped_toimg BRACHYDACTYLY-ECTRODACTYLY WITH FIBULAR APLASIA OR HYPOPLASIA C1862100
DISO_to_DISOmapped_toimg BRACHYDACTYLY-MENTAL RETARDATION SYNDROME C1838126
DISO_to_DISOmapped_toimg Berk Tabatznik syndrome C2930899
DISO_to_DISOmapped_toimg Brachydactyly and intraventricular conduction defect C1841657
DISO_to_DISOisaimg Brachydactyly of hand C0588368
DISO_to_DISOisaimg Brachydactyly of toes C0432029
DISO_to_DISOmapped_toimg Brachydactyly preaxial with hallux varus and thumb abduction C1862162
DISO_to_DISOisaimg Brachydactyly syndrome type B C1300267
Genes (52)

Species:
human : 52
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanBBS12166379Bardet-Biedl syndrome 12
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanBBS5129880Bardet-Biedl syndrome 5
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanTTC8123016tetratricopeptide repeat domain 8
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanTMEM6791147transmembrane protein 67
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanARL684100ADP-ribosylation factor-like 6
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanADAMTS1081794ADAM metallopeptidase with thrombospondin type 1 motif, 10
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanCEP29080184centrosomal protein 290kDa
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanEHMT179813euchromatic histone-lysine N-methyltransferase 1
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanBBS1079738Bardet-Biedl syndrome 10
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanPORCN64840porcupine homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanSLURP157152secreted LY6/PLAUR domain containing 1
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanBBS755212Bardet-Biedl syndrome 7
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanRAB2351715RAB23, member RAS oncogene family
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanMRPS1651021mitochondrial ribosomal protein S16
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanBBS927241Bardet-Biedl syndrome 9
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanTRIM3222954tripartite motif containing 32
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanRAI110743retinoic acid induced 1
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanCHST39469carbohydrate (chondroitin 6) sulfotransferase 3
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanNOG9241noggin
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanOFD18481oral-facial-digital syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanGDF58200growth differentiation factor 5
img GENERIF, Score=660, Pubmed Id: 14735582, UMLKSK CUI: C0221357
img OMIM, Score=1000, UMLKSK CUI: C0221357
img OMIM, Score=1000, UMLKSK CUI: C0221357
img GENERIF, Score=660, Pubmed Id: 18283415, UMLKSK CUI: C0221357
img GENERIF, Score=660, Pubmed Id: 12357473, UMLKSK CUI: C0221357
img OMIM, Score=1000, UMLKSK CUI: C0221357
img OMIM, Score=1000, UMLKSK CUI: C0221357
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanMKKS8195McKusick-Kaufman syndrome
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanTWIST17291twist basic helix-loop-helix transcription factor 1
img OMIM, Score=1000, UMLKSK CUI: C0221357
HumanRMRP6023RNA component of mitochondrial RNA processing endoribonuclease
img OMIM, Score=1000, UMLKSK CUI: C0221357
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0221357BRACHYDACTYLY0self