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Details
Link-It Detail - Disease - Disorders of Sex Development
Debug Stats
  • ### Total Build Time: 44 ms 41.491 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 354 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 456 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=0 Completed: 0 ms rowSize= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=3 ms Completed: 3 ms rowSize= 1.407 KB
  • CONCEPT_CHILDREN gt=1 ms Completed: 1 ms rowSize= 996 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 6.717 KB
  • CONCEPT_RELATIONSHIPS gt=17 ms Completed: 17 ms rowSize= 12.812 KB
  • CONCEPT_GENES gt=14 ms Completed: 14 ms rowSize= 17.360 KB
  • CONCEPT_XREFS gt=1 ms Completed: 1 ms rowSize= 1.162 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Disorders of Sex Development C0036875
Definition (1)
In gonochoristic organisms, congenital conditions in which development of chromosomal, gonadal, or anatomical sex is atypical. Effects from exposure to abnormal levels of GONADAL HORMONES in the maternal environment, or disruption of the function of those hormones by ENDOCRINE DISRUPTORS are included.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (3)
img Urogenital Abnormalities C0042063
img Gonadal Disorders C0018050
img Sexual and Gender Disorders C0525047
Children (2)
img Adrenogenital Syndrome C0302280
img Gonadal Dysgenesis C0018051
Ancestral Roots
RootRoot Plus OneDepthParent
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
img Endocrine System Diseases C0014130img Gonadal Disorders C00180503img Gonadal Disorders C0018050
img Mental Disorders C0004936img Sexual and Gender Disorders C05250473img Sexual and Gender Disorders C0525047
Relationships (37)

Relation Types:
diso_​to_​anat : 9
diso_​to_​chem : 8
diso_​to_​diso : 10
diso_​to_​gene : 1
diso_​to_​phen : 2
diso_​to_​phys : 7


Relationships:
none : 34
mapped_​to : 1
permuted_​term_​of : 1
use : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN171img genetic aspects C0017399
DISO_to_PHEN154img genetic aspects C0017399
DISO_to_PHYS48img Gender Identities C0017249
DISO_to_DISO36img chemically induced C0007994
DISO_to_PHYS33img Gender Identities C0017249
DISO_to_CHEM32img CHEM WATER POLLUTANTS C0043054
DISO_to_DISO32img Complication Aspects C1171258
DISO_to_DISO31img Adrenal Hyperplasia, Congenital C0001627
DISO_to_DISO30img chemically induced C0007994
DISO_to_PHYS28img Determination Process, Sex C0524972
DISO_to_ANAT27img Female genitalia C0017421
DISO_to_CHEM27img TRANSCRIPTION FACTOR C0040648
DISO_to_ANAT25img Genitalia C0017420
DISO_to_ANAT24img Genitalia C0017420
DISO_to_PHYS23img DIFFER SEX C0036874
DISO_to_ANAT21img Mullerian Ducts C0026732
DISO_to_CHEM21img Compounds, Trialkyltin C0040863
DISO_to_DISO21img Adrenal Hyperplasia, Congenital C0001627
DISO_to_PHYS21img Mutation C0026882
DISO_to_CHEM20img Binding Protein, DNA C0012940
DISO_to_DISO20img Complication Aspects C1171258
DISO_to_ANAT19img Gonadal structure C0018067
DISO_to_ANAT19img Testis C0039597
DISO_to_CHEM18img CHEM WATER POLLUTANTS C0043054
DISO_to_PHYS18img DIFFER SEX C0036874
Genes (58)

Species:
human : 58
Page Size
Current 25
  Page 1 of 3
Prior Page
Current 1
SpeciesGeneGeneIdGene NameEvidence
HumanPALM2-AKAP2445815
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanRSPO1284654R-spondin 1
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanPROKR2128674prokineticin receptor 2
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanKISS1R84634KISS1 receptor
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanPROK260675prokineticin 2
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanRETN56729resistin
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanCHD755636chromodomain helicase DNA binding protein 7
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanWNT454361wingless-type MMTV integration site family, member 4
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanUQCRQ27089ubiquinol-cytochrome c reductase, complex III subunit VII, 9.5kDa
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanRAB3GAP225782RAB3 GTPase activating protein subunit 2 (non-catalytic)
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanSORBS110580sorbin and SH3 domain containing 1
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanNAMPT10135nicotinamide phosphoribosyltransferase
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanCTDP19150CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanHESX18820HESX homeobox 1
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanIRS28660insulin receptor substrate 2
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanAKR1C38644aldo-keto reductase family 1, member C3
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanTP638626tumor protein p63
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanIRS48471insulin receptor substrate 4
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanWT17490Wilms tumor 1
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanUQCRB7381ubiquinol-cytochrome c reductase binding protein
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanTNFRSF1B7133tumor necrosis factor receptor superfamily, member 1B
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanSTK116794serine/threonine kinase 11
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanSTAT16772signal transducer and activator of transcription 1, 91kDa
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanSTAR6770steroidogenic acute regulatory protein
INFERRED, Score=800, UMLKSK CUI: C0036875
HumanSRY6736sex determining region Y
INFERRED, Score=800, UMLKSK CUI: C0036875
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0036875Disorders of Sex Development0self