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Details
Link-It Detail - Disease - Polyendocrinopathies, Autoimmune
Debug Stats
  • ### Total Build Time: 113 ms 23.127 KB
  • CONCEPT_NAME gt=21 ms Completed: 21 ms rowSize= 362 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 400 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=12 ms Completed: 12 ms rowSize= 998 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.790 KB
  • CONCEPT_RELATIONSHIPS gt=57 ms Completed: 57 ms rowSize= 12.920 KB
  • CONCEPT_GENES gt=13 ms Completed: 13 ms rowSize= 4.313 KB
  • CONCEPT_XREFS gt=8 ms Completed: 8 ms rowSize= 1.166 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Polyendocrinopathies, Autoimmune C0085409
Definition (1)
A rare genetic syndrome characterized by autoantibodies production against more than one endocrine organ. The range of endocrinopathies includes hypoparathyroidism, adrenal insufficiency, hypogonadism, type 1 diabetes mellitus and hypothyroidism.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Autoimmune Diseases C0004364
img Endocrine System Diseases C0014130
Ancestral Roots
RootRoot Plus OneDepthParent
img Immune System Diseases C0021053img Autoimmune Diseases C00043643img Autoimmune Diseases C0004364
img Endocrine System Diseases C0014130img Autoimmune Diseases C00043642img Endocrine System Diseases C0014130
Relationships (35)

Relation Types:
diso_​to_​anat : 4
diso_​to_​chem : 5
diso_​to_​diso : 21
diso_​to_​phen : 2
diso_​to_​phys : 3


Relationships:
none : 26
is_​primary_​anatomic_​site_​of_​disease : 1
isa : 4
mapped_​to : 3
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN120img genetic aspects C0017399
DISO_to_DISO92img Complication Aspects C1171258
DISO_to_PHEN75img genetic aspects C0017399
DISO_to_DISO62img Complication Aspects C1171258
DISO_to_CHEM38img TRANSCRIPTION FACTOR C0040648
DISO_to_CHEM29img Abs - Autoantibodies C0004358
DISO_to_CHEM29img TRANSCRIPTION FACTOR C0040648
DISO_to_DISO24img Disease, X-Linked Genetic C1138434
DISO_to_CHEM20img Forkhead Box Proteins C0118111
DISO_to_DISO20img Diabetes Mellitus, Insulin-Dependent C0011854
DISO_to_PHYS17img Mutation C0026882
DISO_to_CHEM16img Abs - Autoantibodies C0004358
DISO_to_DISO16img CHRONIC MUCOCUTANEOUS CANDIDIASIS C0006845
DISO_to_ANAT15img In Blood C0005768
DISO_to_ANAT15img Regulatory T-Lymphocytes C0039198
DISO_to_DISO15img Intestinal Diseases C0021831
DISO_to_ANAT12img In Blood C0005768
DISO_to_DISO12img Disease, X-Linked Genetic C1138434
DISO_to_DISO11img Addison Disease C0001403
DISO_to_DISO11img Diabetes Mellitus, Insulin-Dependent C0011854
DISO_to_DISO10img AUTOIMMUNE DIS C0004364
DISO_to_DISO9img Hypoparathyroidism C0020626
DISO_to_PHYS9img Mutation C0026882
DISO_to_DISO8img Addison Disease C0001403
DISO_to_DISO7img Autoimmune Status C0004368
Genes (3)

Species:
human : 3
SpeciesGeneGeneIdGene NameEvidence
HumanHLA-DRB13123
img GAD, Score=1000, Pubmed Id: 12734793, UMLKSK CUI: C0085409
HumanHLA-DQA13117
img GAD, Score=1000, Pubmed Id: 12734793, UMLKSK CUI: C0085409
HumanAIRE326autoimmune regulator
img GENERIF, Score=923, Pubmed Id: 18682433, UMLKSK CUI: C0085409
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0085409Polyendocrinopathies, Autoimmune0self