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"

10 matching diseasesClear search ×

Huntington disease-like syndrome due to C9ORF72 expansions

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

ORPHA:401901

CPE-related Prader-Willi-like syndrome

BDV syndrome · Blakemore-Durmaz-Vasileiou syndrome

ORPHA:633028

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

Huntington disease phenocopy syndrome

ORPHA:158266

KLHL7-related Bohring-Opitz-like syndrome

KLHL7-related BOS-like syndrome

ORPHA:603689

KLHL7-related Crisponi/cold-induced sweating-like syndrome

KLHL7-related Crisponi-like syndrome

ORPHA:603694

NPHP3-related Meckel-like syndrome

Goldston syndrome · Meckel syndrome type 7

ORPHA:3032