Details of Disease

General Information of Disease (ID: DIS6BW88)

Disease Name Huntington disease-like syndrome
Synonyms Huntington disease phenocopy syndrome
Disease Hierarchy
DISYMF71: Huntington disease and related disorders
DISFWL8F: Hereditary dementia
DIS6BW88: Huntington disease-like syndrome
Disease Identifiers
MONDO ID
MONDO_0015548
MESH ID
C580174
UMLS CUI
C3711380
MedGen ID
777988
Orphanet ID
158266
SNOMED CT ID
702376003

Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 1 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
C9orf72 TTA4SHR Strong Biomarker [1]
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References

1 Clinical spectrum of C9orf72 expansion in a cohort of Huntington's disease phenocopies.Neurol Sci. 2018 Apr;39(4):741-744. doi: 10.1007/s10072-018-3268-7. Epub 2018 Feb 13.