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Details
Link-It Detail - Disease - Adrenal Hyperplasia, Congenital
Debug Stats
  • ### Total Build Time: 358 ms 71.947 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 360 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 302 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=5 ms Completed: 5 ms rowSize= 1.848 KB
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=21 ms Completed: 21 ms rowSize= 11.948 KB
  • CONCEPT_RELATIONSHIPS gt=248 ms Completed: 248 ms rowSize= 14.754 KB
  • CONCEPT_GENES gt=67 ms Completed: 67 ms rowSize= 41.367 KB
  • CONCEPT_XREFS gt=9 ms Completed: 9 ms rowSize= 1.165 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Adrenal Hyperplasia, Congenital C0001627
Definition (1)
A genetic disorder characterized by defects in the synthesis of cortisol and/or aldosterone, resulting in hyperplasia of the adrenal cortical cells.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (4)
img Adrenogenital Syndrome C0302280
img Steroid Metabolism, Inborn Errors C1257809
img Genetic Diseases, Inborn C0950123
img Adrenal Gland Diseases C0001621
Ancestral Roots
RootRoot Plus OneDepthParent
img Female Urogenital Diseases and Pregnancy Complications C1720765img Female Urogenital Diseases C17208876img Adrenogenital Syndrome C0302280
img Male Urogenital Diseases C1720894img Urogenital Abnormalities C00420635img Adrenogenital Syndrome C0302280
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007686img Adrenogenital Syndrome C0302280
img Endocrine System Diseases C0014130img Gonadal Disorders C00180505img Adrenogenital Syndrome C0302280
img Mental Disorders C0004936img Sexual and Gender Disorders C05250475img Adrenogenital Syndrome C0302280
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501235img Steroid Metabolism, Inborn Errors C1257809
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Steroid Metabolism, Inborn Errors C1257809
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501233img Genetic Diseases, Inborn C0950123
img Endocrine System Diseases C0014130img Adrenal Gland Diseases C00016213img Adrenal Gland Diseases C0001621
Relationships (110)

Relation Types:
diso_​to_​anat : 8
diso_​to_​chem : 72
diso_​to_​diso : 25
diso_​to_​phen : 2
diso_​to_​phys : 3


Relationships:
none : 27
associated_​with : 1
disease_​has_​associated_​disease : 1
entry_​version_​of : 1
is_​associated_​anatomic_​site_​of : 2
is_​primary_​anatomic_​site_​of_​disease : 2
isa : 9
location_​of : 1
mapped_​to : 5
may_​treat : 60
use : 1
Page Size
Current 25
  Page 1 of 5
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN294img genetic aspects C0017399
DISO_to_PHEN179img genetic aspects C0017399
DISO_to_DISO150img Complication Aspects C1171258
DISO_to_CHEM148img Steroid 21-Hydroxylase C0038304
DISO_to_DISO120img Complication Aspects C1171258
DISO_to_CHEM114img Steroid 21-Hydroxylase C0038304
DISO_to_PHYS68img Mutation C0026882
DISO_to_ANAT61img In Blood C0005768
DISO_to_ANAT53img In Blood C0005768
DISO_to_CHEM41img GLUCOCORTICOIDS C0017710
DISO_to_CHEM40img Steroid 17-alpha-Hydroxylase C0038302
DISO_to_PHYS38img Mutation C0026882
DISO_to_DISO31img Disorders of Sex Development C0036875
DISO_to_CHEM28img 17 Hydroxyprogesterone C0045010
DISO_to_CHEM28img Dexamethasone C0011777
DISO_to_CHEM26img Steroid 11-beta-Hydroxylase C0038296
DISO_to_CHEM25img Hydrocortisone C0020268
DISO_to_DISO24img Adrenal Cortical Rest Tumor C0001630
DISO_to_DISO24img Testicular Neoplasms C0039590
DISO_to_CHEM22img 17 Hydroxyprogesterone C0045010
DISO_to_CHEM22img Steroid 17-alpha-Hydroxylase C0038302
DISO_to_DISO21img Disorders of Sex Development C0036875
DISO_to_CHEM20img Steroid 11-beta-Hydroxylase C0038296
DISO_to_ANAT19img Female genitalia C0017421
DISO_to_PHYS18img Missense Mutation C0599155
Genes (18)

Species:
human : 17
mouse : 1
SpeciesGeneGeneIdGene NameEvidence
MouseCYP21A21589cytochrome P450, family 21, subfamily A, polypeptide 2
img NCI, Score=801, Pubmed Id: 7925109, UMLKSK CUI: C0001627
HumanNEWENTRY192343Record to support submission of GeneRIFs for a gene not in Gene (human; man).
img GENERIF, Score=679, Pubmed Id: 18777204, UMLKSK CUI: C0001627
HumanTNXB7148tenascin XB
img NCI, Score=801, Pubmed Id: 15639189, UMLKSK CUI: C0001627
HumanSTAR6770steroidogenic acute regulatory protein
img GENERIF, Score=923, Pubmed Id: 17666473, UMLKSK CUI: C0001627
img GENERIF, Score=923, Pubmed Id: 15546900, UMLKSK CUI: C0001627
HumanPOR5447P450 (cytochrome) oxidoreductase
img GENERIF, Score=1000, Pubmed Id: 15220035, UMLKSK CUI: C0001627
HumanHSD3B23284hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 2
img NCI, Score=801, Pubmed Id: 15585552, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 11196452, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 12608938, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 12428206, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 8004103, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 10843183, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 10599696, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 8004103, UMLKSK CUI: C0001627
HumanHSD3B13283hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 1
img NCI, Score=801, Pubmed Id: 12428206, UMLKSK CUI: C0001627
img GENERIF, Score=809, Pubmed Id: 12050213, UMLKSK CUI: C0001627
HumanHLA-DQA13117
img NCI, Score=801, Pubmed Id: 15027205, UMLKSK CUI: C0001627
HumanHLA-B3106
img GENERIF, Score=679, Pubmed Id: 18777204, UMLKSK CUI: C0001627
img GENERIF, Score=717, Pubmed Id: 17551464, UMLKSK CUI: C0001627
HumanGLO12739glyoxalase I
img NCI, Score=801, Pubmed Id: 6130199, UMLKSK CUI: C0001627
HumanCYP21A1P1590cytochrome P450, family 21, subfamily A, polypeptide 1 pseudogene
img GAD, Score=1000, Pubmed Id: 14502362, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 1905948, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 14502362, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 10859342, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 10794740, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 1978631, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 14730433, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 2913051, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 1978247, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 8081391, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 8034294, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 9836705, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 9518489, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 10222348, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 15639189, UMLKSK CUI: C0001627
HumanCYP21A21589cytochrome P450, family 21, subfamily A, polypeptide 2
Click here to display 263 evidence detail records.
HumanCYP11B21585cytochrome P450, family 11, subfamily B, polypeptide 2
img NCI, Score=801, Pubmed Id: 15134805, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 11549691, UMLKSK CUI: C0001627
HumanCYP11B11584cytochrome P450, family 11, subfamily B, polypeptide 1
Click here to display 27 evidence detail records.
HumanCYP11A11583cytochrome P450, family 11, subfamily A, polypeptide 1
img NCI, Score=801, Pubmed Id: 3077248, UMLKSK CUI: C0001627
img NCI, Score=801, Pubmed Id: 7877888, UMLKSK CUI: C0001627
HumanAR367androgen receptor
img GENERIF, Score=1000, Pubmed Id: 12050225, UMLKSK CUI: C0001627
HumanAMELY266amelogenin, Y-linked
img NCI, Score=801, Pubmed Id: 9604546, UMLKSK CUI: C0001627
HumanAMELX265amelogenin, X-linked
img NCI, Score=801, Pubmed Id: 9604546, UMLKSK CUI: C0001627
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0001627Adrenal Hyperplasia, Congenital0self