Mosaic Variegated Aneuploidy Syndrome 1

Preferred Label : Mosaic Variegated Aneuploidy Syndrome 1;

NCIt synonyms : MVA1;

NCIt definition : An autosomal recessive genetic disorder caused by mutation(s) in the BUB1B gene, encoding mitotic checkpoint serine/threonine-protein kinase B. The condition is characterized by a predisposition to mitotic non-disjunction, resulting in a high percentage of aneuploid cells. The phenotype is variable and there is a predisposition to cancer.;

Détails

Origin ID

C128192;

UMLS CUI

C1850343;

Automatic exact mappings (from CISMeF team)
- Mosaic variegated aneuploidy syndrome [ICD-11 More detail]
Currated CISMeF NLP mapping
- Mosaic variegated aneuploidy syndrome [ORDO Disease]
- Mosaic variegated aneuploidy syndrome [MeSH concept]
- Mosaic variegated aneuploidy syndrome (disorder) [SNOMED CT concept]
- Mosaic variegated aneuploidy syndrome 1 [OMIM Phenotype]
- mosaic variegated aneuploidy syndrome [MeSH Supplementary Concept]
- mosaic variegated aneuploidy syndrome 1 [DO Concept]
- warburton anyane yeboa syndrome [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mosaic variegated aneuploidy syndrome [MeSH concept]
- Mosaic variegated aneuploidy syndrome 1 [OMIM Phenotype]
- mosaic variegated aneuploidy syndrome [MeSH Supplementary Concept]
- mosaic variegated aneuploidy syndrome 1 [DO Concept]
concept_is_in_subset
- CCPS Disease Terminology [NCIt concept]
- Cellosaurus Disease Terminology [NCIt concept]
- Childhood Cancer Predisposition Study Terminology [NCIt concept]
disease_mapped_to_gene
- BUB1B Gene [NCIt concept]
related_to_genetic_biomarker
- BUB1B Gene [NCIt concept]

Position du mot-clé dans l'(les) arborescence(s) :

Vous pouvez consulter :

recommendations
documents concerning education
documents for patients