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Details
Link-It Detail - Disease - Epispadias
Debug Stats
  • ### Total Build Time: 16 ms 18.383 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 318 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 526 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= 191 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=2 ms Completed: 2 ms rowSize= 995 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=2 ms Completed: 2 ms rowSize= 6.742 KB
  • CONCEPT_RELATIONSHIPS gt=6 ms Completed: 6 ms rowSize= 6.338 KB
  • CONCEPT_GENES gt=1 ms Completed: 1 ms rowSize= 2.141 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.145 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Epispadias C0014588
Definition (1)
A birth defect due to malformation of the URETHRA in which the urethral opening is above its normal location. In the male, the malformed urethra generally opens on the top or the side of the PENIS, but the urethra can also be open the entire length of the penis. In the female, the malformed urethral opening is often between the CLITORIS and the labia, or in the ABDOMEN.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (2)
img Urethral Diseases C0041969
img Urogenital Abnormalities C0042063
Ancestral Roots
RootRoot Plus OneDepthParent
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208875img Urethral Diseases C0041969
img Male Urogenital Diseases C1720894img Urologic Diseases C00420754img Urethral Diseases C0041969
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208874img Urogenital Abnormalities C0042063
img Male Urogenital Diseases C1720894img Urogenital Abnormalities C00420633img Urogenital Abnormalities C0042063
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Urogenital Abnormalities C0042063
Relationships (13)

Relation Types:
diso_​to_​anat : 4
diso_​to_​diso : 8
diso_​to_​phen : 1


Relationships:
none : 7
associated_​with : 1
isa : 2
location_​of : 2
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISO46img Bladder Exstrophy C0005689
DISO_to_DISO43img Bladder Exstrophy C0005689
DISO_to_DISO22img Complication Aspects C1171258
DISO_to_DISO20img Complication Aspects C1171258
DISO_to_ANAT18img Urethra C0041967
DISO_to_ANAT10img Penis C0030851
DISO_to_PHEN10img genetic aspects C0017399
DISO_to_ANATlocation_ofimg Male urethral structure C0458452
DISO_to_ANATlocation_ofimg Structure of dorsum of penis C0227929
DISO_to_DISOassociated_withimg Congenital Abnormalities C0000768
DISO_to_DISOpermuted_term_ofimg Epispadias C0014588
DISO_to_DISOisaimg Epispadias, female C0345346
DISO_to_DISOisaimg Epispadias, male (disorder) C0563449
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanEVC2132884Ellis van Creveld syndrome 2
img OMIM, Score=1000, UMLKSK CUI: C0014588
HumanEVC2121Ellis van Creveld syndrome
img OMIM, Score=1000, UMLKSK CUI: C0014588
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0014588Epispadias0self