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Details
Link-It Detail - Disease - Hypospadias
Debug Stats
  • ### Total Build Time: 153 ms 48.763 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 320 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 434 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=15 ms Completed: 15 ms rowSize= 993 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=11 ms Completed: 11 ms rowSize= 5.435 KB
  • CONCEPT_RELATIONSHIPS gt=64 ms Completed: 64 ms rowSize= 12.370 KB
  • CONCEPT_GENES gt=48 ms Completed: 48 ms rowSize= 27.885 KB
  • CONCEPT_XREFS gt=7 ms Completed: 7 ms rowSize= 1.146 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hypospadias C0848558
Definition (1)
A birth defect due to malformation of the URETHRA in which the urethral opening is below its normal location. In the male, the malformed urethra generally opens on the ventral surface of the PENIS or on the PERINEUM. In the female, the malformed urethral opening is in the VAGINA.
Semantic Types (1)
Congenital Abnormality (T019)
Parents (2)
img Penile Diseases C0030846
img Urogenital Abnormalities C0042063
Ancestral Roots
RootRoot Plus OneDepthParent
img Male Urogenital Diseases C1720894img Genital Diseases, Male C00174124img Penile Diseases C0030846
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 (50)

Relation Types:
diso_​to_​anat : 11
diso_​to_​chem : 2
diso_​to_​diso : 35
diso_​to_​phen : 2


Relationships:
none : 35
isa : 6
mapped_​to : 8
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANAT109img Urethra C0041967
DISO_to_ANAT81img Surgical Flaps C0038925
DISO_to_ANAT79img Surgical Flaps C0038925
DISO_to_PHEN74img genetic aspects C0017399
DISO_to_ANAT66img Penis C0030851
DISO_to_ANAT58img Penis C0030851
DISO_to_DISO43img Complication Aspects C1171258
DISO_to_PHEN43img genetic aspects C0017399
DISO_to_DISO38img Cryptorchidism C0010417
DISO_to_DISO37img COMPL POSTOP C0032787
DISO_to_DISO31img chemically induced C0007994
DISO_to_DISO30img COMPL POSTOP C0032787
DISO_to_ANAT27img Mouth Mucosa C0026639
DISO_to_DISO24img Urinary Fistula C0042021
DISO_to_DISO24img chemically induced C0007994
DISO_to_DISO23img Complication Aspects C1171258
DISO_to_DISO21img Cutaneous Fistula C0423772
DISO_to_DISO20img Abnormalities, Multiple C0000772
DISO_to_DISO20img Urethral Diseases C0041969
DISO_to_DISO17img Stenoses, Urethral C0041974
DISO_to_ANAT16img Foreskin C0227952
DISO_to_CHEM16img Endocrine Disruptors C1568245
DISO_to_DISO16img Urethral Diseases C0041969
DISO_to_ANAT15img Mouth Mucosa C0026639
DISO_to_DISO15img Abnormalities, Multiple C0000772
Genes (68)

Species:
human : 68
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanFREM2341640FRAS1 related extracellular matrix protein 2
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanH19283120H19, imprinted maternally expressed transcript (non-protein coding)
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanHYLS1219844hydrolethalus syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanUBR1197131ubiquitin protein ligase E3 component n-recognin 1
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanESCO2157570establishment of sister chromatid cohesion N-acetyltransferase 2
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanEVC2132884Ellis van Creveld syndrome 2
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanDNAJC19131118DnaJ (Hsp40) homolog, subfamily C, member 19
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanFRAS180144Fraser syndrome 1
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanPEX2655670peroxisomal biogenesis factor 26
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanZMPSTE2410269zinc metallopeptidase STE24
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanPQBP110084polyglutamine binding protein 1
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanMAMLD110046mastermind-like domain containing 1
img GENERIF, Score=861, Pubmed Id: 18635673, UMLKSK CUI: C0848558
img GENERIF, Score=1000, Pubmed Id: 17086185, UMLKSK CUI: C0848558
HumanZEB29839zinc finger E-box binding homeobox 2
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanCUL79820cullin 7
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanWTAP9589Wilms tumor 1 associated protein
img GENERIF, Score=861, Pubmed Id: 14675924, UMLKSK CUI: C0848558
HumanTP638626tumor protein p63
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanPEX38504peroxisomal biogenesis factor 3
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanCUL4B8450cullin 4B
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanWT17490Wilms tumor 1
img OMIM, Score=1000, UMLKSK CUI: C0848558
img GAD, Score=1000, Pubmed Id: 15266301, UMLKSK CUI: C0848558
HumanWNT7A7476wingless-type MMTV integration site family, member 7A
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanWHSC17468Wolf-Hirschhorn syndrome candidate 1
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanHNF1B6928HNF1 homeobox B
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanSTAR6770steroidogenic acute regulatory protein
img OMIM, Score=1000, UMLKSK CUI: C0848558
HumanSRD5A26716steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
img GENERIF, Score=827, Pubmed Id: 16174723, UMLKSK CUI: C0848558
img GAD, Score=1000, Pubmed Id: 16174723, UMLKSK CUI: C0848558
img GAD, Score=1000, Pubmed Id: 15266301, UMLKSK CUI: C0848558
HumanSRD5A16715steroid-5-alpha-reductase, alpha polypeptide 1 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 1)
img GENERIF, Score=1000, Pubmed Id: 14739525, UMLKSK CUI: C0848558
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0848558Hypospadias0self