Mosaic Variegated Aneuploidy Syndrome 2

Preferred Label : Mosaic Variegated Aneuploidy Syndrome 2;

NCIt definition : An autosomal recessive condition caused by mutation(s) in the CEP57 gene, encoding centrosomal protein of 57 kDa. It is characterized by variable phenotypes, associated with mosaic aneuploidies.;

Details

Origin ID

C168989;

UMLS CUI

C3279843;

Currated CISMeF NLP mapping
- Mosaic variegated aneuploidy syndrome 2 [OMIM Phenotype]
- mosaic variegated aneuploidy syndrome 2 [DO Concept]
- mosaic variegated aneuploidy syndrome 2 [Disease (Nov.)]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Mosaic variegated aneuploidy syndrome 2 [OMIM Phenotype]
- mosaic variegated aneuploidy syndrome 2 [DO Concept]
- mosaic variegated aneuploidy syndrome 2 [Disease (Nov.)]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- CEP57 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

You can consult :

recommendations
documents concerning education
documents for patients