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Details
Link-It Detail - Disease - X-Linked Combined Immunodeficiency Diseases
Debug Stats
  • ### Total Build Time: 42 ms 20.344 KB
  • CONCEPT_NAME gt=12 ms Completed: 12 ms rowSize= 384 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 340 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=6 ms Completed: 6 ms rowSize= 1,012 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=4 ms Completed: 4 ms rowSize= 5.488 KB
  • CONCEPT_RELATIONSHIPS gt=9 ms Completed: 9 ms rowSize= 5.718 KB
  • CONCEPT_GENES gt=7 ms Completed: 7 ms rowSize= 6.047 KB
  • CONCEPT_XREFS gt=2 ms Completed: 2 ms rowSize= 1.177 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
X-Linked Combined Immunodeficiency Diseases C1279481
Definition (1)
Forms of combined immunodeficiency caused by mutations in the gene for INTERLEUKIN RECEPTOR COMMON GAMMA SUBUNIT. Both severe and non-severe subtypes of the disease have been identified.
Semantic Types (1)
Disease or Syndrome (T047)
Parents (2)
img Severe Combined Immunodeficiency C0085110
img Genetic Diseases, X-Linked C1138434
Ancestral Roots
RootRoot Plus OneDepthParent
img Immune System Diseases C0021053img Immunologic Deficiency Syndromes C00210514img Severe Combined Immunodeficiency C0085110
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Infant, Newborn, Diseases C00212904img Severe Combined Immunodeficiency C0085110
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255175img Severe Combined Immunodeficiency C0085110
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Genetic Diseases, Inborn C09501234img Genetic Diseases, X-Linked C1138434
Relationships (11)

Relation Types:
diso_​to_​anat : 1
diso_​to_​chem : 3
diso_​to_​diso : 5
diso_​to_​phen : 1
diso_​to_​phys : 1


Relationships:
none : 8
mapped_​to : 2
permuted_​term_​of : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN43img genetic aspects C0017399
DISO_to_ANAT10img T-Lymphocyte C0039194
DISO_to_CHEM9img Interleukin 2 Receptor Gamma C1334204
DISO_to_DISO8img Complication Aspects C1171258
DISO_to_CHEM5img GENET VECTORS C0017397
DISO_to_CHEM4img Forkhead Box Proteins C0118111
DISO_to_DISO4img Agammaglobulinaemia C0001768
DISO_to_PHYS4img Mutation C0026882
DISO_to_DISOmapped_toimg Neonatal death immune deficiency C1848144
DISO_to_DISOpermuted_term_ofimg X-Linked Combined Immunodeficiency Diseases C1279481
DISO_to_DISOmapped_toimg X-Linked Severe Combined Immunodeficiency C2931540
Genes (5)

Species:
human : 5
SpeciesGeneGeneIdGene NameEvidence
HumanFRMD790167FERM domain containing 7
img GENERIF, Score=694, Pubmed Id: 16240070, UMLKSK CUI: C1279481
HumanIL2RG3561interleukin 2 receptor, gamma
img GAD, Score=1000, Pubmed Id: 11426455, UMLKSK CUI: C1279481
HumanG6PD2539glucose-6-phosphate dehydrogenase
img GENERIF, Score=756, Pubmed Id: 17660836, UMLKSK CUI: C1279481
HumanEDA1896ectodysplasin A
img GENERIF, Score=717, Pubmed Id: 18688569, UMLKSK CUI: C1279481
HumanCHM1121choroideremia (Rab escort protein 1)
img GENERIF, Score=694, Pubmed Id: 18487380, UMLKSK CUI: C1279481
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C1279481X-Linked Combined Immunodeficiency Diseases0self