Bloom Syndrome

Preferred Label : Bloom Syndrome;

NCIt synonyms : Congenital Telangiectatic Erythema Syndrome;

NCIt related terms : Bloom-Torre-Machacek syndrome;

NCIt definition : Bloom syndrome is an autosomal recessive disorder associated with mutations in BLM gene encoding protein that belongs to the family of DNA helicases. It is characterized by predisposition to cancer, immunodeficiency, high sensitivity to UV and genomic instability of somatic cells. (Oncogene 2001 Dec 13;20(57):8276-80);

Alternative definition : NCI-GLOSS: A rare, inherited disorder marked by height that is shorter than average, a narrow face with redness and a rash, a high-pitched voice, and fertility problems. Patients with this disorder have an increased risk of cancer, especially leukemia and osteosarcoma (bone cancer). Bloom syndrome is caused by changes in a protein that normally helps cells make copies of the DNA. Changes in this protein cause many breaks, rearrangements, and other mutations in the DNA. It is a type of autosomal recessive genetic disease.;

Codes from synonyms : CDR0000666663; CDR0000666662;

Details

Origin ID

C2903;

UMLS CUI

C0005859;

Currated CISMeF NLP mapping
- Bloom syndrome [MedDRA Preferred Term]
- Bloom syndrome [PASCAL descriptor]
- Bloom syndrome [DO Concept]
- Bloom syndrome [Disease (Nov.)]
- Bloom syndrome [ICD-11 More detail]
- Bloom syndrome [OMIM Phenotype]
- Bloom syndrome [ORDO Disease]
- Bloom syndrome (disorder) [SNOMED CT concept]
- bloom syndrome [MeSH Descriptor]
- bloom syndrome [MeSH concept]
- bloom syndrome [SNOMED Notion]
DO Cross reference
- Bloom syndrome [DO Concept]
Disease may have findings
- Kidney Wilms Tumor [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Bloom syndrome [ORDO Disease]
- Bloom syndrome [MedDRA Preferred Term]
- Bloom syndrome [OMIM Phenotype]
- Bloom syndrome [PASCAL descriptor]
- Bloom syndrome [DO Concept]
- Bloom syndrome [Disease (Nov.)]
- Bloom syndrome [ICD-11 More detail]
- Bloom syndrome (disorder) [SNOMED CT concept]
- Congenital telangiectatic erythema [MedDRA LLT]
- bloom syndrome [MeSH Descriptor]
- bloom syndrome [MeSH concept]
- bloom syndrome [SNOMED Notion]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
- OS Authorized Value Terminology [NCIt concept]
- OS Medical History Table [NCIt concept]
disease_has_finding
- Hereditary Lesion [NCIt concept]
disease_has_molecular_abnormality
- BLM Gene Mutation [NCIt concept]
disease_mapped_to_chromosome
- Human Chromosome 15 [NCIt concept]
disease_mapped_to_gene
- BLM Gene [NCIt concept]
disease_may_have_associated_disease
- Colon Carcinoma [NCIt concept]
- Leukemia [NCIt concept]
- Tongue Carcinoma [NCIt concept]
pathogenesis_of_disease_involves_gene
- BLM Gene [NCIt concept]
- BLM wt Allele [NCIt concept]
related_to_genetic_biomarker
- BLM Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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