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Details
Link-It Detail - Disease - Ambiguities, Genital
Debug Stats
  • ### Total Build Time: 55 ms 13.804 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 338 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 294 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
  • 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=12 ms Completed: 12 ms rowSize= 1.871 KB
  • CONCEPT_GENES gt=24 ms Completed: 24 ms rowSize= 10.091 KB
  • CONCEPT_XREFS gt=11 ms Completed: 11 ms rowSize= 1.154 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Ambiguities, Genital C0266362
Definition (1)
A rare congenital abnormality in which the infant's external genitalia do not have the typical appearance of a male's or female's genitalia.
Relationships (2)

Relation Types:
diso_​to_​anat : 1
diso_​to_​diso : 1


Relationships:
location_​of : 1
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_ANATlocation_ofimg Genital system C0559522
DISO_to_DISOpermuted_term_ofimg Ambiguities, Genital C0266362
Genes (11)

Species:
human : 11
SpeciesGeneGeneIdGene NameEvidence
HumanMKS154903Meckel syndrome, type 1
img OMIM, Score=1000, UMLKSK CUI: C0266362
HumanWT17490Wilms tumor 1
img OMIM, Score=1000, UMLKSK CUI: C0266362
HumanTSPYL17259TSPY-like 1
img OMIM, Score=1000, UMLKSK CUI: C0266362
HumanSRD5A26716steroid-5-alpha-reductase, alpha polypeptide 2 (3-oxo-5 alpha-steroid delta 4-dehydrogenase alpha 2)
img OMIM, Score=1000, UMLKSK CUI: C0266362
HumanPOR5447P450 (cytochrome) oxidoreductase
img OMIM, Score=882, UMLKSK CUI: C0266362
HumanNR5A12516nuclear receptor subfamily 5, group A, member 1
img GENERIF, Score=901, Pubmed Id: 17488792, UMLKSK CUI: C0266362
HumanDHCR24171824-dehydrocholesterol reductase
img OMIM, Score=1000, UMLKSK CUI: C0266362
HumanDHCR717177-dehydrocholesterol reductase
img OMIM, Score=1000, UMLKSK CUI: C0266362
HumanCYP17A11586cytochrome P450, family 17, subfamily A, polypeptide 1
img OMIM, Score=1000, UMLKSK CUI: C0266362
HumanCYP11B11584cytochrome P450, family 11, subfamily B, polypeptide 1
img OMIM, Score=1000, UMLKSK CUI: C0266362
HumanBUB1B701BUB1 mitotic checkpoint serine/threonine kinase B
img OMIM, Score=1000, UMLKSK CUI: C0266362
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0266362Ambiguities, Genital0self