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 ×

Inherited epidermodysplasia verruciformis

Lewandowsky-Lutz syndrome · Lutz-Lewandowsky epidermodysplasia verruciformis

ORPHA:302

Aymé-Gripp syndrome

Brachycephaly-hearing loss-cataract-intellectual disability syndrome · Fine-Lubinsky syndrome

ORPHA:1272

Biliary tract malformation-renal failure syndrome

Cholestatic jaundice-renal tubular insufficiency syndrome · Lutz-Richner-Landolt syndrome

ORPHA:3438

Hypergonadotropic hypogonadism-cataract syndrome

Lubinsky syndrome

ORPHA:2410

Keppen-Lubinsky syndrome

Generalized lipodystrophy-progeroid features-severe intellectual disability syndrome

ORPHA:435628

L1 syndrome

CRASH syndrome · Corpus callosum hypoplasia-retardation-adducted thumbs-spasticity-hydrocephalus syndrome

ORPHA:275543

Laryngo-onycho-cutaneous syndrome

LOGIC syndrome · Laryngeal and ocular granulation tissue in children from the Indian subcontinent syndrome

ORPHA:2407

Lateral meningocele syndrome

Lehman syndrome

ORPHA:2789

Legius syndrome

Nonmosaic Legius syndrome · NF1-like syndrome

ORPHA:137605

Leigh syndrome

Infantile subacute necrotizing encephalopathy · Leigh disease

ORPHA:506

Lelis syndrome

Ectodermal dysplasia-acanthosis nigricans syndrome

ORPHA:140936

Lewis-Sumner syndrome

MADSAM · Multifocal acquired demyelinating sensory and motor neuropathy

ORPHA:48162

LUMBAR syndrome

PELVIS syndrome · Perineal hemangioma-external genitalia malformations-lipomyelomeningocele-vesicorenal abnormalities-imperforate anus-skin tag syndrome

ORPHA:83628

Noonan syndrome with multiple lentigines

Cardiomyopathic lentiginosis · Familial multiple lentigines syndrome

ORPHA:500

Symphalangism with multiple anomalies of hands and feet

Learman syndrome

ORPHA:3246

VACTERL with hydrocephalus

Sujansky-Leonard syndrome

ORPHA:3412

X-linked dystonia-parkinsonism

DYT3 · Lubag

ORPHA:53351

Zimmermann-Laband syndrome

Gingival fibromatosis-hepatosplenomegaly-other anomalies syndrome · Laband syndrome

ORPHA:3473