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Details
Link-It Detail - Disease - Ectrodactyly
Debug Stats
  • ### Total Build Time: 30 ms 17.396 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 322 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • Skipping details on: CONCEPT_DEFINITION gt=NONE 0 Completed: 0 ms rowSize= 0 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=25 ms Completed: 25 ms rowSize= 7.333 KB
  • CONCEPT_GENES gt=4 ms Completed: 4 ms rowSize= 8.531 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Ectrodactyly C0265554
Relationships (16)

Relation Types:
diso_​to_​anat : 3
diso_​to_​diso : 13


Relationships:
associated_​with : 2
classifies : 2
isa : 7
location_​of : 3
mapped_​to : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Digit structure C0582802
DISO_to_ANATlocation_ofimg Hand C0018563
DISO_to_ANATlocation_ofimg Metacarpal Bones C0025526
DISO_to_DISOassociated_withimg Absence, congenital, partial C0332908
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOisaimg Cleft hand - central C0431872
DISO_to_DISOmapped_toimg Cleft hand - first cleft C0431871
DISO_to_DISOisaimg Cleft hand with polydactyly C0431874
DISO_to_DISOisaimg Cleft hand with syndactyly C0431873
DISO_to_DISOisaimg Cleft lip-cleft palate-lobster claw deformity syndrome C0406704
DISO_to_DISOassociated_withimg Congenital failure of fusion C0332915
DISO_to_DISOmapped_toimg Ectrodactyly C0265554
DISO_to_DISOisaimg Lobster claw foot C0432028
DISO_to_DISOclassifiesimg Other and unspecified congenital anomalies C0158795
DISO_to_DISOisaimg Partial aphalangia of lower limb C0265640
DISO_to_DISOisaimg Partial aphalangia of upper limb C0265591
Genes (7)

Species:
human : 7
SpeciesGeneGeneIdGene NameEvidence
HumanSHFM5171157split hand/foot malformation (ectrodactyly) type 5
img OMIM, Score=1000, UMLKSK CUI: C0265554
HumanPORCN64840porcupine homolog (Drosophila)
img OMIM, Score=1000, UMLKSK CUI: C0265554
HumanSNX38724sorting nexin 3
img OMIM, Score=1000, UMLKSK CUI: C0265554
img GENERIF, Score=1000, Pubmed Id: 12471201, UMLKSK CUI: C0265554
HumanTP638626tumor protein p63
img OMIM, Score=1000, UMLKSK CUI: C0265554
img OMIM, Score=1000, UMLKSK CUI: C0265554
img GENERIF, Score=861, Pubmed Id: 14656652, UMLKSK CUI: C0265554
HumanWNT7A7476wingless-type MMTV integration site family, member 7A
img OMIM, Score=1000, UMLKSK CUI: C0265554
HumanFBXW46468F-box and WD repeat domain containing 4
img OMIM, Score=1000, UMLKSK CUI: C0265554
HumanCDH31001cadherin 3, type 1, P-cadherin (placental)
img GENERIF, Score=1000, Pubmed Id: 15805154, UMLKSK CUI: C0265554
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0265554Ectrodactyly0self