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Details
Link-It Detail - Disease - Androgen-Insensitivity Syndrome
Debug Stats
  • ### Total Build Time: 150 ms 27.200 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 360 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 681 bytes
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  • Skipping details on: CONCEPT_TEXT gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
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  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=3 ms Completed: 3 ms rowSize= 1.560 KB
  • CONCEPT_RELATIONSHIPS gt=112 ms Completed: 112 ms rowSize= 13.257 KB
  • CONCEPT_GENES gt=15 ms Completed: 15 ms rowSize= 9.435 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.165 KB
  • CONCEPT_ANCILLARY gt=0 Completed: 0 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Androgen-Insensitivity Syndrome C0039585
Definition (1)
A disorder of sexual development transmitted as an X-linked recessive trait. These patients have a karyotype of 46,XY with end-organ resistance to androgen due to mutations in the androgen receptor (RECEPTORS, ANDROGEN) gene. Severity of the defect in receptor quantity or quality correlates with their phenotypes. In these genetic males, the phenotypic spectrum ranges from those with normal female external genitalia, through those with genital ambiguity as in Reifenstein Syndrome, to that of a normal male with INFERTILITY.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Genetic Diseases, X-Linked C1138434
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Genetic Diseases, X-Linked C1138434
Relationships (48)

Relation Types:
diso_​to_​anat : 2
diso_​to_​chem : 4
diso_​to_​diso : 36
diso_​to_​phen : 2
diso_​to_​phys : 4


Relationships:
none : 14
inheritance_​type_​of : 1
isa : 5
manifestation_​of : 25
mapped_​to : 2
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN97img genetic aspects C0017399
DISO_to_PHEN84img genetic aspects C0017399
DISO_to_CHEM78img Androgen Receptor C0034786
DISO_to_CHEM65img Androgen Receptor C0034786
DISO_to_DISO24img Complication Aspects C1171258
DISO_to_PHYS20img Mutation C0026882
DISO_to_DISO19img Complication Aspects C1171258
DISO_to_PHYS15img Mutation C0026882
DISO_to_PHYS12img Mutation, Missense C0599155
DISO_to_CHEM9img Androgens C0002844
DISO_to_ANAT8img In Blood C0005768
DISO_to_ANAT8img Testis C0039597
DISO_to_CHEM8img Androgens C0002844
DISO_to_PHYS8img Mutation, Point C0162735
DISO_to_DISOmanifestation_ofimg Abdominal, inguinal, or labial testes C1848181
DISO_to_DISOmanifestation_ofimg Absent facial hair C1848192
DISO_to_DISOisaimg Androgen receptor absent C0342531
DISO_to_DISOisaimg Androgen resistance - infertile male C0341794
DISO_to_DISOpermuted_term_ofimg Androgen-Insensitivity Syndrome C0039585
DISO_to_DISOmanifestation_ofimg Blind vagina C1848182
DISO_to_DISOmanifestation_ofimg Caused by mutation in the androgen receptor gene (AR, 313700.0001) C1848196
DISO_to_DISOmapped_toimg Complete testicular feminisation syndrome C0342529
DISO_to_DISOmanifestation_ofimg Elevated plasma estrogen C1848189
DISO_to_DISOmanifestation_ofimg Elevated plasma follicle stimulating hormone (FSH) C1848191
DISO_to_DISOmanifestation_ofimg Elevated plasma luteinizing hormone (LH) C1848190
Genes (2)

Species:
human : 2
SpeciesGeneGeneIdGene NameEvidence
HumanAKR1C38644aldo-keto reductase family 1, member C3
img GENERIF, Score=1000, Pubmed Id: 17071532, UMLKSK CUI: C0039585
HumanAR367androgen receptor
img GAD, Score=1000, Pubmed Id: 8096390, UMLKSK CUI: C0039585
img GENERIF, Score=1000, Pubmed Id: 18694860, UMLKSK CUI: C0039585
img GENERIF, Score=1000, Pubmed Id: 18270433, UMLKSK CUI: C0039585
img GENERIF, Score=1000, Pubmed Id: 15919721, UMLKSK CUI: C0039585
img GENERIF, Score=1000, Pubmed Id: 15046097, UMLKSK CUI: C0039585
img GENERIF, Score=694, Pubmed Id: 15053245, UMLKSK CUI: C0039585
img OMIM, Score=1000, UMLKSK CUI: C0039585
img GAD, Score=1000, Pubmed Id: 14974091, UMLKSK CUI: C0039585
img GENERIF, Score=1000, Pubmed Id: 11818512, UMLKSK CUI: C0039585
img GAD, Score=1000, Pubmed Id: 12843171, UMLKSK CUI: C0039585
img GENERIF, Score=1000, Pubmed Id: 17538927, UMLKSK CUI: C0039585
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0039585Androgen-Insensitivity Syndrome0self