Brown-Vialetto-Van Laere Syndrome 2

Preferred Label : Brown-Vialetto-Van Laere Syndrome 2;

NCIt synonyms : BVVLS2;

NCIt definition : A rare autosomal recessive condition caused by mutation(s) in the SLC52A2 gene, encoding solute carrier family 52, riboflavin transporter, member 2. It is characterized by progressive pontobulbar palsy associated with sensorineural deafness, which may include respiratory compromise.;

Details

Origin ID

C183529;

UMLS CUI

C3553538;

Currated CISMeF NLP mapping
- Brown-Vialetto-Van Laere syndrome 2 [DO Concept]
- Brown-vialetto-van laere syndrome 2 [OMIM Phenotype]
Has associated anatomic sites
- Nervous System [NCIt concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Brown-vialetto-van laere syndrome 2 [OMIM Phenotype]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_has_finding
- Rare Lesion [NCIt concept]
disease_mapped_to_gene
- SLC52A2 Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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