MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:1292
Name:Beardwell syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D004057|MESH:D015776
TreeNumbers:C05.116.540.410/C537665 |C05.116.900.815.651/C537665 |C16.320.850.475.440/C537665 |C17.800.428.435.440/C537665 |C17.800.827.475.440/C537665
Synonyms:Familial ankylosing vertebral hyperostosis with tylosis
Slim Mappings:Genetic disease (inborn)|Musculoskeletal disease|Skin disease
Reference: MedGen: C537665
MeSH: C537665
OMIM:
MSeqDR LSDB:  
Genes: BCS1L;
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal