Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Autosomal recessive spastic paraplegia type 9B
Autosomal recessive
Childhood, Infancy
Autosomal recessive spinocerebellar ataxia-blindness-deafness syndrome
Autosomal recessive
Childhood
Autosomal recessive spondylocostal dysostosis
Autosomal recessive
Antenatal, Neonatal
Autosomal recessive spondylometaphyseal dysplasia, Mégarbané type
Autosomal recessive
Antenatal
Autosomal recessive syndromic cerebellar ataxia
Autosomal recessive
Autosomal semi-dominant severe lipodystrophic laminopathy
Semi-dominant
Adult
Autosomal spastic paraplegia type 18
Autosomal dominant, Autosomal recessive
Childhood, Infancy
Autosomal spastic paraplegia type 30
Autosomal dominant, Autosomal recessive
Adolescent, Adult
Autosomal spastic paraplegia type 58
Autosomal dominant, Autosomal recessive
Adolescent, Adult, Childhood, Elderly, Infancy
Autosomal spastic paraplegia type 72
Autosomal dominant, Autosomal recessive
Childhood
Autosomal systemic lupus erythematosus
Autosomal dominant, Autosomal recessive
Childhood
Autosomal thrombocytopenia with normal platelets
Autosomal dominant, Autosomal recessive
Avian influenza
Not applicable
All ages
Axenfeld anomaly
Autosomal dominant
Childhood, Infancy, Neonatal
Axenfeld-Rieger syndrome
Autosomal dominant
Infancy, Neonatal
Axial mesodermal dysplasia spectrum
Antenatal
Axial spondylometaphyseal dysplasia
Autosomal recessive
Childhood, Infancy
Aymé-Gripp syndrome
Autosomal recessive
Infancy, Neonatal
B-cell chronic lymphocytic leukemia
Multigenic/multifactorial, Not applicable
Adult
B-cell immunodeficiency-limb anomaly-urogenital malformation syndrome
Autosomal dominant
Antenatal
B-cell non-Hodgkin lymphoma
B-cell prolymphocytic leukemia
Adult
B-lymphoblastic leukemia/lymphoma with hyperdiploidy
Adolescent, Adult, Childhood
B-lymphoblastic leukemia/lymphoma with hypodiploidy
Adolescent, Adult, Childhood