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Details
Link-It Detail - Disease - Bloom Syndrome
Debug Stats
  • ### Total Build Time: 45 ms 19.393 KB
  • CONCEPT_NAME gt=3 ms Completed: 3 ms rowSize= 326 bytes
  • CONCEPT_SOLR_HIT_STATS gt=0 Completed: 0 ms rowSize= 14 bytes
  • CONCEPT_DEFINITION gt=0 Completed: 0 ms rowSize= 402 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= 247 bytes
  • Skipping details on: CONCEPT_NAMESPACE gt=NONE 0 Completed: 0 ms rowSize= 0 bytes
  • CONCEPT_PARENTS gt=4 ms Completed: 4 ms rowSize= 1,008 bytes
  • CONCEPT_CHILDREN gt=0 Completed: 0 ms rowSize= 8 bytes
  • CONCEPT_ANCESTRAL_ROOTS gt=0 Completed: 0 ms rowSize= 2.853 KB
  • CONCEPT_RELATIONSHIPS gt=36 ms Completed: 36 ms rowSize= 13.376 KB
  • CONCEPT_GENES gt=1 ms Completed: 1 ms rowSize= 45 bytes
  • CONCEPT_XREFS gt=0 Completed: 0 ms rowSize= 1.148 KB
  • CONCEPT_ANCILLARY gt=1 ms Completed: 1 ms rowSize= 14 bytes
  • Reload Stats
Disease (1)
Bloom Syndrome C0005859
Definition (1)
An autosomal recessive disorder characterized by telangiectatic ERYTHEMA of the face, photosensitivity, DWARFISM and other abnormalities, and a predisposition toward developing cancer. The Bloom syndrome gene (BLM) encodes a RecQ-like DNA helicase.
Semantic Types (2)
Congenital Abnormality (T019)
Disease or Syndrome (T047)
Parents (2)
img Abnormalities, Multiple C0000772
img DNA Repair-Deficiency Disorders C1563696
Ancestral Roots
RootRoot Plus OneDepthParent
img Congenital, Hereditary, and Neonatal Diseases and Abnormalities C0027612img Congenital Abnormalities C00007684img Abnormalities, Multiple C0000772
img Nutritional and Metabolic Diseases C0028715img Metabolic Diseases C00255174img DNA Repair-Deficiency Disorders C1563696
Relationships (48)

Relation Types:
diso_​to_​chem : 4
diso_​to_​diso : 42
diso_​to_​phen : 2


Relationships:
none : 6
associated_​with : 1
is_​finding_​of_​disease : 1
manifestation_​of : 36
may_​be_​associated_​disease_​of_​disease : 2
may_​be_​finding_​of_​disease : 1
permuted_​term_​of : 1
Page Size
Current 25
  Page 1 of 2
Prior Page
Current 1
Relation TypeCo-Occuring
Concept Count
RelationshipConcept
DISO_to_PHEN39img genetic aspects C0017399
DISO_to_PHEN34img genetic aspects C0017399
DISO_to_CHEM28img DNA Helicases C0920283
DISO_to_CHEM23img Adenosine Triphosphatases C0001473
DISO_to_CHEM17img DNA Helicases C0920283
DISO_to_CHEM12img Helicases, RecQ C0084304
DISO_to_DISOmanifestation_ofimg Absent upper lateral incisors C1849950
DISO_to_DISOmanifestation_ofimg Adenocarcinoma C0001418
DISO_to_DISOmanifestation_ofimg Average adult female height 144cm C1859418
DISO_to_DISOmanifestation_ofimg Average adult male height 151cm C1859417
DISO_to_DISOmanifestation_ofimg Azoospermia C0004509
DISO_to_DISOmanifestation_ofimg BRONCHIECTASIS C0006267
DISO_to_DISOpermuted_term_ofimg Bloom Syndrome C0005859
DISO_to_DISOmanifestation_ofimg Carcinoma, Squamous Cell C0007137
DISO_to_DISOmanifestation_ofimg Caused by mutations in the RecQ protein-like 3 gene (RECQL3, 604610.0001) C1859429
DISO_to_DISOassociated_withimg Chromosome Disorders C0008626
DISO_to_DISOmanifestation_ofimg Chronic lung disease C0746102
DISO_to_DISOmanifestation_ofimg Clinodactyly (fifth finger) C1857528
DISO_to_DISOmay_be_associated_disease_of_diseaseimg Colon Carcinoma C0699790
DISO_to_DISOmanifestation_ofimg Cryptorchidism C0010417
DISO_to_DISOmanifestation_ofimg DOLICHOCEPHALY C0221358
DISO_to_DISOmanifestation_ofimg Decreased IgA, IgG, IgM C1859425
DISO_to_DISOmanifestation_ofimg Diabetes Mellitus, Non-Insulin-Dependent C0011860
DISO_to_DISOmanifestation_ofimg Growth failure C0878787
DISO_to_DISOis_finding_of_diseaseimg Hereditary Lesion C1708351
XRefs (1)

XRef Types:
cui : 1


ToppGene Datasets:
none : 1
ToppGene DatasetsXRef TypeXRef IdXRefValuesSourceTop % Rank
CUIimg C0005859Bloom Syndrome0self