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Details
Link-It Detail - Disease - Congenital neck webbing, unspecified
Debug Stats
  • ### Total Build Time: 9 ms 15.343 KB
  • CONCEPT_NAME gt=0 Completed: 0 ms rowSize= 370 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 340 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
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  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
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  • CONCEPT_RELATIONSHIPS gt=1 ms Completed: 1 ms rowSize= 4.172 KB
  • CONCEPT_GENES gt=6 ms Completed: 6 ms rowSize= 9.237 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.170 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Congenital neck webbing, unspecified C0221217
Definition (1)
A congenital, usually bilateral, thick web-like fold of skin that extends from the acromion to the mastoid process. This deformity is associated with Turner Syndrome and Noonan Syndrome.
Relationships (7)

Relation Types:
diso_​to_​anat : 2
diso_​to_​diso : 5


Relationships:
associated_​with : 1
classifies : 2
expanded_​form_​of : 1
isa : 1
location_​of : 2
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Neck C0027530
DISO_to_ANATlocation_ofimg Shoulder C0037004
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOexpanded_form_ofimg Congenital neck webbing, unspecified C0221217
DISO_to_DISOisaimg Congenital web of larynx C0152416
DISO_to_DISOassociated_withimg Congenital webbing C0332875
DISO_to_DISOclassifiesimg Other and unspecified congenital anomalies C0158795
Genes (10)

Species:
human : 10
SpeciesGeneGeneIdGene NameEvidence
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0221217
HumanWHSC17468Wolf-Hirschhorn syndrome candidate 1
img OMIM, Score=1000, UMLKSK CUI: C0221217
HumanTPM27169tropomyosin 2 (beta)
img OMIM, Score=1000, UMLKSK CUI: C0221217
HumanTNNT37140troponin T type 3 (skeletal, fast)
img OMIM, Score=1000, UMLKSK CUI: C0221217
HumanTNNI27136troponin I type 2 (skeletal, fast)
img OMIM, Score=1000, UMLKSK CUI: C0221217
HumanPTPN115781protein tyrosine phosphatase, non-receptor type 11
img OMIM, Score=1000, UMLKSK CUI: C0221217
img OMIM, Score=1000, UMLKSK CUI: C0221217
HumanNF14763neurofibromin 1
img OMIM, Score=1000, UMLKSK CUI: C0221217
HumanMYH34621myosin, heavy chain 3, skeletal muscle, embryonic
img OMIM, Score=1000, UMLKSK CUI: C0221217
HumanKRAS3845Kirsten rat sarcoma viral oncogene homolog
img OMIM, Score=1000, UMLKSK CUI: C0221217
HumanHRAS3265Harvey rat sarcoma viral oncogene homolog
img OMIM, Score=1000, UMLKSK CUI: C0221217
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0221217Congenital neck webbing, unspecified0self