Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Primary hyperoxaluria type 1
Autosomal recessive
All ages
Primary hyperoxaluria type 2
Autosomal recessive
Childhood
Primary hyperoxaluria type 3
Autosomal recessive
Childhood, Infancy
Primary hypertrophic osteoarthropathy
Autosomal recessive
Infancy, Neonatal
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis
Autosomal recessive
Childhood, Infancy
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis with severe ocular involvement
Autosomal recessive
Childhood
Primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement
Autosomal recessive
Childhood
Primary hypomagnesemia with secondary hypocalcemia
Autosomal recessive
Infancy, Neonatal
Primary hypomagnesemia-generalized seizures-intellectual disability-obesity syndrome
Autosomal dominant, Autosomal recessive
Childhood, Infancy
Primary hypomagnesemia-refractory seizures-intellectual disability syndrome
Autosomal dominant
Infancy, Neonatal
Primary hypophysitis
Not applicable
Adult
Primary immunodeficiency
Primary immunodeficiency syndrome due to P14/LAMTOR2 deficiency
Autosomal recessive
Infancy, Neonatal
Primary immunodeficiency with natural-killer cell deficiency and adrenal insufficiency
Autosomal recessive
Childhood
Primary immunodeficiency with post-measles-mumps-rubella vaccine viral infection
Autosomal recessive
Infancy
Primary intestinal lymphangiectasia
All ages
Primary laryngeal lymphangioma
Infancy, Neonatal
Primary lateral sclerosis
Autosomal dominant, Autosomal recessive, Not applicable
Adult, Elderly
Primary lipodystrophy
All ages
Primary localized amyloidosis
Not applicable
Primary lymphedema
Autosomal dominant, Autosomal recessive
All ages
Primary mediastinal large B-cell lymphoma
Multigenic/multifactorial, Not applicable
Adult
Primary megaureter, adult-onset form
Unknown
Adult