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Details
Link-It Detail - Disease - ALEUKOCYTOSIS
Debug Stats
  • ### Total Build Time: 77 ms 10.108 KB
  • CONCEPT_NAME gt=6 ms Completed: 6 ms rowSize= 324 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 359 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= 14 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=0 Completed: 0 ms rowSize= 7 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 15 bytes
  • CONCEPT_RELATIONSHIPS gt=57 ms Completed: 57 ms rowSize= 5.967 KB
  • CONCEPT_GENES gt=9 ms Completed: 9 ms rowSize= 2.257 KB
  • CONCEPT_XREFS gt=3 ms Completed: 3 ms rowSize= 1.147 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
ALEUKOCYTOSIS C0272167
Definition (1)
A rare severe combined immunodeficiency disorder characterized by congenital agranulocytosis, lymphoid tissue and thymic tissue hypoplasia, and lymphopenia. Both cellular and humoral immunities are absent.
Relationships (13)

Relation Types:
diso_​to_​diso : 13


Relationships:
alias_​of : 1
isa : 2
manifestation_​of : 9
used_​for : 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_DISOalias_ofimg ALEUKOCYTOSIS C0272167
DISO_to_DISOmanifestation_ofimg Absent bone marrow myeloid elements C1849428
DISO_to_DISOmanifestation_ofimg Absent cellular immunity C1849426
DISO_to_DISOmanifestation_ofimg Absent humoral immunity C1849427
DISO_to_DISOmanifestation_ofimg Congenital hypoplasia of thymus C0685891
DISO_to_DISOmanifestation_ofimg Congenital neutropenia C0340970
DISO_to_DISOisaimg De Vaal syndrome C1282908
DISO_to_DISOmanifestation_ofimg Early death in the first few weeks of life C1849429
DISO_to_DISOmanifestation_ofimg Leukopenia C0023530
DISO_to_DISOmanifestation_ofimg Lymphoid hypoplasia C1849425
DISO_to_DISOmanifestation_ofimg Lymphopenia C0024312
DISO_to_DISOisaimg Reticular dysgenesis with congenital aleucocytosis C0272168
DISO_to_DISOused_forimg Severe Combined Immunodeficiency C0085110
Genes (1)

Species:
human : 1
SpeciesGeneGeneIdGene NameEvidence
HumanAK2204adenylate kinase 2
img GENERIF, Score=1000, Pubmed Id: 19043417, UMLKSK CUI: C0272167
img GENERIF, Score=1000, Pubmed Id: 19043416, UMLKSK CUI: C0272167
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0272167ALEUKOCYTOSIS0self