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"

16 matching diseasesClear search ×

MADD-related developmental delay-endocrine dysfunction-hypohemoglobinemia syndrome

ORPHA:686495

Madras motor neuron disease

MMND

ORPHA:137867

Mandibuloacral dysplasia

MAD

ORPHA:2457

Lewis-Sumner syndrome

MADSAM · Multifocal acquired demyelinating sensory and motor neuropathy

ORPHA:48162

Mandibuloacral dysplasia associated to MTX2

Mandibuloacral dysplasia progeroid syndrome · MADaM

ORPHA:647667

Mandibuloacral dysplasia with type A lipodystrophy

MADA

ORPHA:90153

Multiple acyl-CoA dehydrogenase deficiency

Glutaric acidemia type 2 · Glutaric aciduria type 2

ORPHA:26791

Multiple acyl-CoA dehydrogenase deficiency, mild type

MAD deficiency, mild type · MADD, mild type

ORPHA:394532

Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type

MAD deficiency, severe neonatal type · Glutaric aciduria type 2, severe neonatal type

ORPHA:394529

Multiple symmetric lipomatosis

Cephalothoracic lipodystrophy · Familial benign cervical lipomatosis

ORPHA:2398

Mycetoma

Madura foot

ORPHA:2583

CANOMAD syndrome

Chronic ataxic neuropathy-ophthalmoplegia-IgM paraprotein-cold agglutinins-disialosyl antibodies syndrome · Chronic sensory ataxic neuropathy with anti-disialosyl IgM antibodies

ORPHA:71279

OBSOLETE: Madelung deformity

ORPHA:35688

OBSOLETE: Madelung deformity, bilateral

ORPHA:295223

OBSOLETE: Madelung deformity, unilateral

ORPHA:295221

Isolated micronodular adrenocortical disease

i-MAD

ORPHA:647782