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Details
Link-It Detail - Disease - Ellis-Van Creveld Syndrome
Debug Stats
  • ### Total Build Time: 37 ms 24.939 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 350 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 306 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_RELATIONSHIPS gt=15 ms Completed: 15 ms rowSize= 12.823 KB
  • CONCEPT_GENES gt=2 ms Completed: 2 ms rowSize= 3.696 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.160 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Ellis-Van Creveld Syndrome C0013903
Definition (1)
Dwarfism occurring in association with defective development of skin, hair, and teeth, polydactyly, and defect of the cardiac septum. (Dorland, 27th ed)
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Osteochondrodysplasias C0029422
img Ectodermal Dysplasia C0013575
Ancestral Roots
RootRoot Plus OneDepthParent
img Musculoskeletal Diseases C0026857img Bone Diseases C00059405img Osteochondrodysplasias C0029422
img Skin and Connective Tissue Diseases C0175166img Skin Diseases C00372745img Ectodermal Dysplasia C0013575
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Ectodermal Dysplasia C0013575
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Ectodermal Dysplasia C0013575
Relationships (45)

Relation Types:
diso_​to_​chem : 1
diso_​to_​diso : 42
diso_​to_​phen : 2


Relationships:
none : 4
alias_​of : 1
classifies : 2
manifestation_​of : 34
mapped_​to : 4
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO19img Complication Aspects C1171258
DISO_to_PHEN17img genetic aspects C0017399
DISO_to_PHEN8img genetic aspects C0017399
DISO_to_CHEM7img Proteins C0033684
DISO_to_DISOmapped_toimg ATD3 C2751311
DISO_to_DISOclassifiesimg All other congenital anomalies C0810365
DISO_to_DISOmanifestation_ofimg Atrial septal defect ICD10CM:Q21.1 C3276093
DISO_to_DISOmanifestation_ofimg Average adult height, 109 to 152 cm C1856995
DISO_to_DISOmanifestation_ofimg Capitate-hamate fusion C1857002
DISO_to_DISOmanifestation_ofimg Caused by mutation in the EVC gene (EVC, 604831.0001) C2749664
DISO_to_DISOmanifestation_ofimg Centrifugal shortening of limbs C1857001
DISO_to_DISOmanifestation_ofimg Clubfoot C0009081
DISO_to_DISOmanifestation_ofimg Cone-shaped epiphyses of phalanges 2 to 5 C1857005
DISO_to_DISOmanifestation_ofimg Congenital pectus carinatum C0158731
DISO_to_DISOmanifestation_ofimg Cryptorchidism C0010417
DISO_to_DISOmanifestation_ofimg Dandy-Walker Syndrome C0010964
DISO_to_DISOmanifestation_ofimg Defect in alveolar ridge C1856998
DISO_to_DISOmanifestation_ofimg Delayed eruption C1839943
DISO_to_DISOmanifestation_ofimg Difficulty forming a fist C1857004
DISO_to_DISOalias_ofimg Ellis-Van Creveld Syndrome C0013903
DISO_to_DISOmanifestation_ofimg Epispadias C0014588
DISO_to_DISOmanifestation_ofimg Genu valga ICD10CM:M21.06 C3276330
DISO_to_DISOmanifestation_ofimg Hypodontia C0020608
DISO_to_DISOmanifestation_ofimg Hypospadias C0848558
DISO_to_DISOmanifestation_ofimg Increased frequency in eastern Pennsylvania Amish C1857009
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanEVC2132884Ellis van Creveld syndrome 2
img GENERIF, Score=1000, Pubmed Id: 12468274, UMLKSK CUI: C0013903
img GENERIF, Score=901, Pubmed Id: 12571802, UMLKSK CUI: C0013903
HumanEVC2121Ellis van Creveld syndrome
img OMIM, Score=1000, UMLKSK CUI: C0013903
img GENERIF, Score=937, Pubmed Id: 18947413, UMLKSK CUI: C0013903
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0013903Ellis-Van Creveld Syndrome0self