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"

10,912 rare diseases

Legionella infection

Legionellosis

ORPHA:600832

Legionnaires disease

ORPHA:549

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

ORPHA:137605

Leigh syndrome with cardiomyopathy

Cardiomyopathy with hypotonia due to cytochrome C oxidase deficiency · Cardiomyopathy with myopathy due to COX deficiency

ORPHA:70474

Leigh syndrome with leukodystrophy

Infantile subacute necrotizing encephalopathy with leukodystrophy · Leigh disease with leukodystrophy

ORPHA:255241

Leigh syndrome with nephrotic syndrome

Infantile subacute necrotizing encephalopathy with nephrotic syndrome · Leigh disease with nephrotic syndrome

ORPHA:255249

Leiomyosarcoma

ORPHA:64720

Leiomyosarcoma of small intestine

ORPHA:104076

Leiomyosarcoma of the cervix uteri

Cervical leiomyosarcoma

ORPHA:213807

Leiomyosarcoma of the corpus uteri

ORPHA:213625

Leishmaniasis

ORPHA:507

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

ORPHA:140936

Lemierre syndrome

Lemierre postanginal sepsis · Postanginal sepsis secondary to orophyngeal infection

ORPHA:137839

Lennox-Gastaut syndrome

ORPHA:2382

Lens position anomaly

ORPHA:98653

Lens position anomaly of genetic origin

ORPHA:522552

Lens shape anomaly

ORPHA:98655

Lens size anomaly

ORPHA:98652

Lens size anomaly of genetic origin

ORPHA:522550

Lenz-Majewski hyperostotic dysplasia

Lenz-Majewski syndrome · Lenz-Majewski hyperostotic dwarfism

ORPHA:2658

Leprosy

ORPHA:548

Leptospirosis

ORPHA:509

Leri pleonosteosis

ORPHA:2900

Léri-Weill dyschondrosteosis

Léri-Weill syndrome

ORPHA:240

Lesch-Nyhan syndrome

HPRT complete deficiency · HPRT deficiency grade IV

ORPHA:510

Lethal acantholytic erosive disorder

ORPHA:158687

Lethal arteriopathy syndrome due to fibulin-4 deficiency

ORPHA:314718

Lethal ataxia with deafness and optic atrophy

Arts syndrome · Lethal ataxia with hearing loss and optic atrophy

ORPHA:1187

Lethal chondrodysplasia

ORPHA:93465

Lethal congenital contracture syndrome

LCCS

ORPHA:294965

Lethal congenital contracture syndrome type 1

Herva disease · LCCS1

ORPHA:1486

Lethal congenital contracture syndrome type 2

LCCS2 · Multiple contracture syndrome, Israeli-Bedouin type

ORPHA:137776

Lethal congenital contracture syndrome type 3

LCCS3

ORPHA:137783

Lethal faciocardiomelic dysplasia

ORPHA:1972

Lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome

ORPHA:444069

Lethal fetal cerebrorenogenitourinary agenesis/hypoplasia syndrome

ORPHA:439897

Lethal hemolytic anemia-genital anomalies syndrome

Water-West syndrome

ORPHA:1046

Lethal hydranencephaly-diaphragmatic hernia syndrome

ORPHA:480528

Lethal infantile mitochondrial myopathy

LIMM · LIMD

ORPHA:254857

Lethal intrauterine growth restriction-cortical malformation-congenital contractures syndrome

Morse-Rawnsley-Sargent syndrome

ORPHA:2570

Lethal Kniest-like dysplasia

ORPHA:2347

Lethal Larsen-like syndrome

ORPHA:2371

Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

ORPHA:478049

Lethal multiple congenital anomalies/dysmorphic syndrome

ORPHA:459787

Lethal multiple pterygium syndrome

Autosomal recessive lethal multiple pterygium syndrome · LMPS

ORPHA:33108

Lethal neonatal spasticity-epileptic encephalopathy syndrome

Lethal neonatal rigidity-multifocal seizure syndrome

ORPHA:435845

Lethal occipital encephalocele-skeletal dysplasia syndrome

ORPHA:293925

Lethal omphalocele-cleft palate syndrome

Czeizel syndrome

ORPHA:2736