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:4870
Name:Frenkel Russe syndrome
Definition:
Alternative IDs:
ParentIDs:MESH:D000361|MESH:D012166|MESH:D013684
TreeNumbers:C11.290.807/C535638 |C11.768.710/C535638 |C14.907.823/C535638 |C15.378.147.142/C535638 |C15.604.515.032/C535638 |C20.673.088/C535638 |C23.550.414.756.775/C535638
Synonyms:Retinal Telangiectasia and Hypogammaglobulinemia |Retinal telangiectasia associated with hypogammaglobulinemia
Slim Mappings:Blood disease|Cardiovascular disease|Eye disease|Immune system disease|Lymphatic disease|Pathology (process)
Reference: MedGen: C535638
MeSH: C535638
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal