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"

5 matching diseasesClear search ×

Primary lateral sclerosis

Adult-onset PLS · Adult-onset primary lateral sclerosis

ORPHA:35689

Amyotrophic lateral sclerosis

ALS · Charcot disease

ORPHA:803

Inclusion body myopathy with Paget disease of bone and frontotemporal dementia

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

ORPHA:52430

Juvenile primary lateral sclerosis

JPLS · Juvenile PLS

ORPHA:247604

Primary megaureter, adult-onset form

ORPHA:238642