Rare Disease Library

Browse Orphanet-curated rare diseases with HPO phenotype annotations, synonyms, and linked support programs. Search by name, abbreviation, or synonym.

Try: "IgA nephropathy", "C3G", "Berger's disease", "PKU", "Duchenne"

9 matching diseasesClear search ×

Huntington disease-like syndrome

Huntington disease phenocopy syndrome

ORPHA:158266

Huntington disease

Huntington chorea

ORPHA:399

Huntington disease-like 1

Early-onset prion disease with prominent psychiatric features · HDL1

ORPHA:157941

Huntington disease-like 2

HDL2

ORPHA:98934

Huntington disease-like 3

HDL3

ORPHA:157946

Huntington disease-like syndrome due to C9ORF72 expansions

C9ORF72-related Huntington disease phenocopy · C9ORF72-related Huntington disease-like syndrome

ORPHA:401901

Juvenile Huntington disease

JHD · Juvenile Huntington chorea

ORPHA:248111

Partington syndrome

Partington-Mulley syndrome · X-linked intellectual disability-dystonia-dysarthria syndrome

ORPHA:94083

X-linked reticulate pigmentary disorder

Familial cutaneous amyloidosis · PDR

ORPHA:85453