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:151
Name:Achromatopsia 1
Definition:
Alternative IDs:
ParentIDs:MESH:D003117
TreeNumbers:C10.597.751.941.256/C536021 |C11.270.151.500/C536021 |C11.966.256/C536021 |C23.888.592.763.941.256/C536021
Synonyms:Rod monochromacy |Rod monochromatism
Slim Mappings:Eye disease|Nervous system disease|Signs and symptoms
Reference: MedGen: C536021
MeSH: C536021
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal