Orphanet Database · Orphadata CC-BY-4.0
Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
7,547
Diseases
4 552
Genes
8 700
Phenotypes
140
Regions
All (7,547)Bio anomalyCategoryClinical groupClinical subtypeClinical syndromeDiseaseEtiological subtypeHistopathological subtypeMalformationMorphological anomalyClinical situation
Laminin subunit alpha 2-related limb-girdle muscular dystrophy R23
Autosomal recessive
Laminopathy with lipodystrophy
Laminopathy with peripheral neuropathy
Laminopathy with premature aging
Laminopathy with striated muscle involvement
Landau-Kleffner syndrome
Autosomal dominant, Unknown
Childhood
Langer mesomelic dysplasia
Autosomal recessive
Antenatal
Langerhans cell histiocytosis
Unknown
All ages
Langerhans cell sarcoma
All ages
Large granular lymphocyte leukemia
Large/giant congenital melanocytic nevus
Multigenic/multifactorial
Infancy, Neonatal
Laron syndrome
Autosomal recessive
Infancy, Neonatal
Laron syndrome with immunodeficiency
Autosomal dominant, Autosomal recessive
Childhood, Infancy, Neonatal
Larsen syndrome
Autosomal dominant
Antenatal, Infancy, Neonatal
Larsen-like osseous dysplasia-short stature syndrome
Neonatal
Larsen-like syndrome, B3GAT3 type
Autosomal recessive
Infancy, Neonatal
Laryngeal abductor paralysis
Neonatal
Laryngeal abductor paralysis-intellectual disability syndrome
X-linked recessive
Childhood
Laryngeal neuroendocrine tumor
Adult
Laryngo-onycho-cutaneous syndrome
Autosomal recessive
Infancy, Neonatal
Laryngocele
All ages
Laryngotracheoesophageal cleft
Autosomal dominant, Not applicable
Antenatal, Neonatal
Laryngotracheoesophageal cleft type 0
Laryngotracheoesophageal cleft type 1
Infancy, Neonatal