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Details
Link-It Detail - Disease - Hyper-IgM Immunodeficiency Syndrome
Debug Stats
  • ### Total Build Time: 84 ms 17.025 KB
  • CONCEPT_NAME gt=8 ms Completed: 8 ms rowSize= 368 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 572 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= 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= 556 bytes
  • CONCEPT_CHILDREN gt=10 ms Completed: 10 ms rowSize= 581 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=9 ms Completed: 9 ms rowSize= 2.803 KB
  • CONCEPT_RELATIONSHIPS gt=21 ms Completed: 21 ms rowSize= 5.079 KB
  • CONCEPT_GENES gt=10 ms Completed: 10 ms rowSize= 5.735 KB
  • CONCEPT_XREFS gt=13 ms Completed: 13 ms rowSize= 1.169 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Hyper-IgM Immunodeficiency Syndrome C0272236
Definition (1)
A rare inherited immunodeficiency syndrome characterized by normal or elevated serum IMMUNOGLOBULIN M levels with absence of IMMUNOGLOBULIN G; IMMUNOGLOBULIN A; and IMMUNOGLOBULIN E. It results in a profound susceptibility to BACTERIAL INFECTIONS and an increased susceptibility to OPPORTUNISTIC INFECTIONS. Several subtypes of hyper-IgM immunodeficiency syndrome exist depending upon the location of genetic mutation.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (1)
img Dysgammaglobulinemia C0013374
Children (1)
img Hyper-IgM Immunodeficiency Syndrome, Type 1 C0398689
Ancestral Roots
RootRoot Plus OneDepthParent
img Immune System Diseases C0021053img Immunologic Deficiency Syndromes C00210514img Dysgammaglobulinemia C0013374
img Hemic and Lymphatic Diseases C0018981img Hematologic Diseases C00189395img Dysgammaglobulinemia C0013374
Relationships (9)

Relation Types:
diso_​to_​chem : 2
diso_​to_​diso : 4
diso_​to_​gene : 2
diso_​to_​phen : 1


Relationships:
none : 4
gene_​associated_​with_​disease : 2
isa : 2
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN17img genetic aspects C0017399
DISO_to_DISO11img Complication Aspects C1171258
DISO_to_CHEM7img CD40 Ligand C0167627
DISO_to_CHEM6img Immunoglobulin M C0020861
DISO_to_DISOisaimg Autosomal recessive hyper-IgM syndrome C1275128
DISO_to_DISOpermuted_term_ofimg Hyper-IgM Immunodeficiency Syndrome C0272236
DISO_to_DISOisaimg Hyper-IgM Immunodeficiency Syndrome, Type 1 C0398689
DISO_to_GENEgene_associated_with_diseaseimg CD40LG gene C1539082
DISO_to_GENEgene_associated_with_diseaseimg CD40LG wt Allele C1706005
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanAICDA57379activation-induced cytidine deaminase
img GENERIF, Score=911, Pubmed Id: 15372234, UMLKSK CUI: C0272236
HumanICOS29851inducible T-cell co-stimulator
img GENERIF, Score=1000, Pubmed Id: 14610488, UMLKSK CUI: C0272236
img GAD, Score=1000, Pubmed Id: 14610488, UMLKSK CUI: C0272236
HumanREL5966v-rel avian reticuloendotheliosis viral oncogene homolog
INFERRED, Score=800, UMLKSK CUI: C0272236
HumanFCER22208Fc fragment of IgE, low affinity II, receptor for (CD23)
INFERRED, Score=800, UMLKSK CUI: C0272236
HumanCD40LG959CD40 ligand
img GAD, Score=1000, Pubmed Id: 10559240, UMLKSK CUI: C0272236
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0272236Hyper-IgM Immunodeficiency Syndrome0self