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"

6 matching diseasesClear search ×

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

IBMPFD · Limb-girdle muscular dystrophy with Paget disease of bone

ORPHA:52430

Amyotrophic lateral sclerosis

ALS · Charcot disease

ORPHA:803

Amyotrophic lateral sclerosis type 4

ALS · ALS4

ORPHA:357043

Frontotemporal dementia with motor neuron disease

FTD-ALS · FTD-MND

ORPHA:275872

Juvenile amyotrophic lateral sclerosis

ALS · Charcot disease

ORPHA:300605

Primary lateral sclerosis

Adult-onset PLS · Adult-onset primary lateral sclerosis

ORPHA:35689