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

Laryngotracheoesophageal cleft

Laryngo-tracheo-esophageal cleft · LC

ORPHA:2004

Laryngotracheoesophageal cleft type 0

Laryngo-tracheo-esophageal cleft type 0 · LTEC0

ORPHA:280205

Laryngotracheoesophageal cleft type 1

Laryngo-tracheo-esophageal cleft type 1 · LTEC I

ORPHA:93938

Laryngotracheoesophageal cleft type 2

Laryngo-tracheo-esophageal cleft type 2 · LTEC II

ORPHA:93939

Laryngotracheoesophageal cleft type 3

Laryngo-tracheo-esophageal cleft type 3 · LTEC III

ORPHA:93940

Laryngotracheoesophageal cleft type 4

Laryngo-tracheo-esophageal cleft type 4 · LTEC IV

ORPHA:93941

Larynx anomaly

ORPHA:156249

Larynx atresia

ORPHA:1202

Lassa fever

LF · Lassa hemorrhagic fever

ORPHA:99824

Late infantile CACH syndrome

ORPHA:157716

Late infantile CLN1 disease

Late infantile neuronal ceroid lipofuscinosis type 1

ORPHA:699734

Late infantile CLN10 disease

Late infantile neuronal ceroid lipofuscinosis type 10

ORPHA:700492

Late infantile CLN2 disease

Infantile neuronal ceroid lipofuscinosis type 2

ORPHA:699761

Late infantile CLN5 disease

Late infantile neuronal ceroid lipofuscinosis type 5

ORPHA:699802

Late infantile CLN6 disease

Late infantile neuronal ceroid lipofuscinosis type 6

ORPHA:700467

Late infantile CLN8 disease

Late infantile neuronal ceroid lipofuscinosis type 8

ORPHA:700484

Late-infantile/juvenile Krabbe disease

Krabbe disease, late-onset

ORPHA:206443

Late-onset citrullinemia type I

Late-onset citrullinemia type 1

ORPHA:247573

Late-onset combined immunodeficiency due to ICOS deficiency

Late-onset CID due to ICOS deficiency · Late-onset combined immunodeficiency due to inducible T-cell costimulator protein deficiency

ORPHA:695183

Late-onset combined immunodeficiency due to ICOSL deficiency

Late-onset CID due to ICOSL deficiency · Late-onset combined immunodeficiency due to inducible T cell costimulator ligand protein deficiency

ORPHA:695191

Late-onset distal myopathy, Markesbery-Griggs type

ZASP-related myofibrillar myopathy

ORPHA:98912

Late-onset familial hypoaldosteronism

Mild aldosterone synthase deficiency · Late-onset familial hyperreninemic hypoaldosteronism

ORPHA:556037

Late-onset focal dermal elastosis

PXE-like late-onset focal dermal elastosis · Pseudoxanthoma-like late-onset focal dermal elastosis

ORPHA:228227

Late-onset idiopathic chronic pancreatitis

ORPHA:700139

Late-onset isolated ACTH deficiency

ORPHA:199299

Late-onset junctional epidermolysis bullosa

JEB-lo · Epidermolysis bullosa progressiva

ORPHA:79406

Late-onset localized junctional epidermolysis bullosa-intellectual disability syndrome

Late-onset localized JEB-intellectual disability syndrome

ORPHA:231556

Late-onset nephronophthisis

ORPHA:93589

Late-onset primary lymphedema without systemic or visceral involvement

ORPHA:289825

Late-onset retinal degeneration

Autosomal dominant late-onset retinal degeneration · LORD

ORPHA:67042

Late-onset scapuloperoneal muscular dystrophy with hyaline bodies

Late-onset scapuloperoneal syndrome, myopathic type · Late-onset SPMD with hyaline bodies

ORPHA:431263

Late-onset Steinert myotonic dystrophy

Late-onset Steinert disease · Late-onset myotonic dystrophy type 1

ORPHA:589833

Lateral facial cleft

ORPHA:141269

Lateral meningocele syndrome

Lehman syndrome

ORPHA:2789

Lathosterolosis

Sterol C5-desaturase deficiency

ORPHA:46059

Lattice corneal dystrophy type I

Biber-Haab-Dimmer dystrophy · Classic lattice corneal dystrophy

ORPHA:98964

Laubry-Pezzi syndrome

VSD with aortic insufficiency · Ventricular septal defect with aortic insufficiency

ORPHA:99094

Laurence-Moon syndrome

LMS

ORPHA:2377

Laurin-Sandrow syndrome

Mirror hands and feets-nasal defects syndrome · Sandrow syndrome

ORPHA:2378

LCAT deficiency

Lecithin-cholesterol acyltransferase deficiency

ORPHA:650

Lead poisoning

Lead intoxication · Plumbism

ORPHA:330015

Leber congenital amaurosis

Amaurosis congenita of Leber

ORPHA:65

Leber hereditary optic neuropathy

LHON · Leber optic atrophy

ORPHA:104

Leber plus disease

LHON plus disease

ORPHA:99718

Ledderhose disease

Plantar fibromatosis

ORPHA:199251

Left isomerism

LAI · Left atrial isomerism

ORPHA:566862

Left ventricular noncompaction

LVNC · Left ventricular hypertrabeculation

ORPHA:54260

Legg-Calvé-Perthes disease

Aseptic necrosis of the capital femoral epiphysis · Osteochondrosis of the capital femoral epiphysis

ORPHA:2380