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"

10,911 rare diseases

OBSOLETE: Leptomyelolipoma

ORPHA:268838

OBSOLETE: Lethal brachymelia-polycystic kidney disease-congenital heart defect syndrome

OBSOLETE: Gillessen-Kaesbach-Nishimura syndrome

ORPHA:466732

OBSOLETE: Lethal chondrodysplasia, Moerman type

OBSOLETE: Moerman-Vandenberghe-Fryns syndrome

ORPHA:1420

OBSOLETE: Lethal chondrodysplasia, Seller type

ORPHA:1421

OBSOLETE: Lethal idiopathic viral infection

ORPHA:35064

OBSOLETE: Letterer-Siwe disease

OBSOLETE: Acute and disseminated Langerhans cell histiocytosis

ORPHA:99870

OBSOLETE: Levodopa-unresponsive juvenile parkinsonism

OBSOLETE: L-DOPA-unresponsive juvenile parkinsonism

ORPHA:352504

OBSOLETE: Limb dystonia

ORPHA:93957

OBSOLETE: Limb-girdle bone anomaly

ORPHA:93466

OBSOLETE: Limbic encephalitis

ORPHA:163892

OBSOLETE: Limbic encephalitis associated with antibodies to cell membrane antigens

ORPHA:163903

OBSOLETE: Limbic encephalitis with caspr2 antibodies

ORPHA:276402

OBSOLETE: Limbic encephalitis with DPP6 antibodies

OBSOLETE: Limbic encephalitis with dipeptidyl-peptidase 6 antibodies · OBSOLETE: Limbic encephalitis with DPPX antibodies

ORPHA:329341

OBSOLETE: Limbic encephalitis with LGI1 antibodies

OBSOLETE: Limbic encephalitis with leucine-rich glioma-inactivated 1 antibodies

ORPHA:163908

OBSOLETE: Limbic encephalitis with nCMAgs antibodies

OBSOLETE: Limbic encephalitis with novel cell membrane antigen antibodies

ORPHA:163914

OBSOLETE: Limbic encephalitis with neurexin-3 antibodies

ORPHA:498700

OBSOLETE: LIMS2-related myopathy

ORPHA:466801

OBSOLETE: Lipoma associated with neurospinal dysraphism

ORPHA:268832

OBSOLETE: Lissencephaly-demyelinating axonal neuropathy syndrome

ORPHA:101356

OBSOLETE: Localized epiphyseal dysplasia

ORPHA:1823

OBSOLETE: Low birth weight-dwarfism-dysgammaglobulinemia syndrome

OBSOLETE: Christian-Rosenberg syndrome

ORPHA:2621

OBSOLETE: Low isolated anorectal malformation

ORPHA:171215

OBSOLETE: Low-grade ependymoma

ORPHA:251633

OBSOLETE: Lown-Ganong-Levine syndrome

OBSOLETE: LGL syndrome · OBSOLETE: Atrial tachyarrhythmia with short PR interval

ORPHA:844

OBSOLETE: Lumbosacral spina bifida aperta

ORPHA:268388

OBSOLETE: Lumbosacral spina bifida cystica

ORPHA:268758

OBSOLETE: Lymphedema

ORPHA:79383

OBSOLETE: Lymphedema praecox

ORPHA:77241

OBSOLETE: Lymphedema tarda

ORPHA:77242

OBSOLETE: Lymphedema-cleft palate syndrome

ORPHA:86917

OBSOLETE: Lymphoadenopathic mastocytosis with eosinophilia

ORPHA:158793

OBSOLETE: Lymphocytic colitis

ORPHA:65279

OBSOLETE: Lymphomatous meningitis

ORPHA:329998

OBSOLETE: Lymphoproliferative syndrome

ORPHA:238510

OBSOLETE: Macrocephaly-immune deficiency-anemia syndrome

ORPHA:94061

OBSOLETE: Maculopapular lupus rash

ORPHA:90287

OBSOLETE: Madelung deformity

ORPHA:35688

OBSOLETE: Madelung deformity, bilateral

ORPHA:295223

OBSOLETE: Madelung deformity, unilateral

ORPHA:295221

OBSOLETE: Major induction processes eye anomaly

ORPHA:98554

OBSOLETE: Malignant tumor of palpebral epidermis

ORPHA:98584

OBSOLETE: Mandibular arteriovenous malformation

OBSOLETE: Arteriovenous malformation of mandible

ORPHA:141174

OBSOLETE: Mandibulofacial dysostosis-deafness-postaxial polydactyly syndrome

OBSOLETE: Opitz-Reynolds-Fitzgerald syndrome

ORPHA:2458

OBSOLETE: Mandibulofacial dysostosis-lymphedema syndrome

ORPHA:99143

OBSOLETE: Marseilles fever

ORPHA:101337

OBSOLETE: Maternally-inherited mitochondrial hypertrophic cardiomyopathy

ORPHA:255225

OBSOLETE: Maxillary arteriovenous malformation

OBSOLETE: Arteriovenous malformation of maxilla

ORPHA:141171

OBSOLETE: McLain-Dekaban syndrome

OBSOLETE: Intellectual disability-coloboma-slimness syndrome

ORPHA:2474