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"

18 matching diseasesClear search ×

4H leukodystrophy

POLR-related leukodystrophy

ORPHA:289494

AKT2-related familial partial lipodystrophy

AKT2-related FPLD

ORPHA:79085

Alkaline ceramidase 3 deficiency

Leukodystrophy due to alkaline ceramidase 3 deficiency · ACER3-related early childhood-onset progressive leukodystrophy

ORPHA:502444

Bethlem muscular dystrophy

Bethlem myopathy · LGMD R22 collagen 6-related dystrophy

ORPHA:610

CIDEC-related familial partial lipodystrophy

FPLD5 · CIDEC-related FPLD

ORPHA:435651

Dermatoleukodystrophy

Cutis laxa-leukodystrophy

ORPHA:1659

FLNA-related X-linked myxomatous valvular dysplasia

Filamin A-related X-linked myxomatous valvular dysplasia · FLNA-related valvular dystrophy

ORPHA:555877

Krabbe disease

GALC deficiency · Galactocerebrosidase deficiency

ORPHA:487

Laminin subunit alpha 2-related muscular dystrophy

LAMA2-related muscular dystrophy · Qualitative or quantitative defects of merosin

ORPHA:207094

Leukodystrophy

ORPHA:68356

LIPE-related familial partial lipodystrophy

FPLD6 · LIPE-related FPLD

ORPHA:435660

Lipodystrophy-demyelinating peripheral sensory-motor neuropathy syndrome

PLAAT3-related lipodystrophy syndrome

ORPHA:686999

Metachromatic leukodystrophy

Arylsulfatase A deficiency · MLD

ORPHA:512

Odontoleukodystrophy

Dentoleukoencephalopathy · Leukodystrophy with oligodontia

ORPHA:77295

Ovarioleukodystrophy

ORPHA:99853

PLIN1-related familial partial lipodystrophy

FPLD4 · PLIN1-related FPLD

ORPHA:280356

POMGNT2-related limb-girdle muscular dystrophy R24

POMGNT2-related muscular dystrophy · POMGNT2-related LGMD R24

ORPHA:565899

PPARG-related familial partial lipodystrophy

FPLD3 · Familial partial lipodystrophy type 3

ORPHA:79083