MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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Parent Node:
expandgenetic neurodegenerative disease with dementia (MONDO:0021037)
Parent Node:
expandHuntington disease-like syndrome (MONDO:0015548)
Parent Node:
expandinherited tremor disorder (MONDO:0017663)
Parent Node:
expandneurodegenerative disease with chorea (MONDO:0017646)
..Starting node
..expandHuntington disease-like syndrome due to C9ORF72 expansions ()

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 Sister Nodes: 
..expandbrain-lung-thyroid syndrome ()
..expandchildhood-onset benign chorea with striatal involvement ()
..expandchorea ()
..expandchorea-acanthocytosis ()
..expandHuntington disease ()
..expandHuntington disease-like 1 ()
..expandHuntington disease-like syndrome due to C9ORF72 expansions ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18425
Name:Huntington disease-like syndrome due to C9ORF72 expansions
Definition:
Alternative IDs:
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Synonyms:C9ORF72-related Huntington disease phenocopy; C9ORF72-related Huntington disease-like syndrome; Huntington disease phenocopy due to C9ORF72 expansions
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal