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Details
Link-It Detail - Disease - Adrenogenital Syndrome
Debug Stats
  • ### Total Build Time: 89 ms 18.933 KB
  • CONCEPT_NAME gt=7 ms Completed: 7 ms rowSize= 342 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 544 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= 188 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=8 ms Completed: 8 ms rowSize= 564 bytes
  • CONCEPT_CHILDREN gt=12 ms Completed: 12 ms rowSize= 1,003 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 6.740 KB
  • CONCEPT_RELATIONSHIPS gt=46 ms Completed: 46 ms rowSize= 5.371 KB
  • CONCEPT_GENES gt=8 ms Completed: 8 ms rowSize= 3.059 KB
  • CONCEPT_XREFS gt=6 ms Completed: 6 ms rowSize= 1.156 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Adrenogenital Syndrome C0302280
Definition (1)
Abnormal SEX DIFFERENTIATION or congenital DISORDERS OF SEX DEVELOPMENT caused by abnormal levels of steroid hormones expressed by the GONADS or the ADRENAL GLANDS, such as in CONGENITAL ADRENAL HYPERPLASIA and ADRENAL CORTEX NEOPLASMS. Due to abnormal steroid biosynthesis, clinical features include VIRILISM in females; FEMINIZATION in males; or precocious sexual development in children.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Disorders of Sex Development C0036875
Children (2)
img Adrenal Hyperplasia, Congenital C0001627
img Hyperandrogenism C0206081
Ancestral Roots
RootRoot Plus OneDepthParent
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208875img Disorders of Sex Development C0036875
img Male Urogenital Diseases C1720894img Urogenital Abnormalities C00420634img Disorders of Sex Development C0036875
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007685img Disorders of Sex Development C0036875
img Endocrine System Diseases C0014130img Gonadal Disorders C00180504img Disorders of Sex Development C0036875
img Mental Disorders C0004936img Sexual and Gender Disorders C05250474img Disorders of Sex Development C0036875
Relationships (9)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 1
diso_​to_​diso : 6
diso_​to_​phen : 1


Relationships:
none : 3
associated_​with : 1
isa : 2
location_​of : 1
permuted_​term_​of : 1
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_CHEM5img Steroid 21-Hydroxylase C0038304
DISO_to_DISO5img Complication Aspects C1171258
DISO_to_PHEN5img genetic aspects C0017399
DISO_to_ANATlocation_ofimg Adrenal Glands C0001625
DISO_to_DISOused_forimg Adrenal Hyperplasia, Congenital C0001627
DISO_to_DISOpermuted_term_ofimg Adrenogenital Syndrome C0302280
DISO_to_DISOisaimg CAH - desmolase deficiency C0342472
DISO_to_DISOassociated_withimg Congenital hyperplasia C0332905
DISO_to_DISOisaimg Virilisation - adrenogenital C0342460
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanSTAR6770steroidogenic acute regulatory protein
img OMIM, Score=1000, UMLKSK CUI: C0302280
HumanCYP17A11586cytochrome P450, family 17, subfamily A, polypeptide 1
img OMIM, Score=1000, UMLKSK CUI: C0302280
HumanCYP11A11583cytochrome P450, family 11, subfamily A, polypeptide 1
img OMIM, Score=1000, UMLKSK CUI: C0302280
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0302280Adrenogenital Syndrome0self