Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Primary Sjögren disease
Not applicable
Adult
Primary adult heart tumor
Not applicable
Adult
Primary anetoderma
Not applicable
All ages
Primary angiitis of the central nervous system
Not applicable
All ages
Primary biliary cholangitis
Multigenic/multifactorial, Unknown
Adolescent, Adult, Elderly
Primary biliary cholangitis/primary sclerosing cholangitis and autoimmune hepatitis overlap syndrome
All ages
Primary bone lymphoma
All ages
Primary central nervous system lymphoma
Not applicable
Adult, Elderly
Primary choroidal lymphoma
Not applicable
Primary ciliary dyskinesia
Autosomal dominant, Autosomal recessive, X-linked recessive
Neonatal
Primary ciliary dyskinesia-retinitis pigmentosa syndrome
X-linked recessive
Childhood
Primary condylar hyperplasia
All ages
Primary cutaneous anaplastic large cell lymphoma
Adolescent, Adult, Childhood
Primary cutaneous peripheral T-cell lymphoma not otherwise specified
Not applicable
Adult, Elderly
Primary cutaneous plasmacytosis
Not applicable
Adult, Elderly
Primary dystonia, DYT13 type
Autosomal dominant
Adolescent, Childhood
Primary dystonia, DYT17 type
Autosomal recessive
Adolescent, Adult
Primary dystonia, DYT2 type
Autosomal recessive
Childhood
Primary dystonia, DYT21 type
Autosomal dominant
Adult
Primary dystonia, DYT27 type
Autosomal recessive
Adult, Childhood
Primary dystonia, DYT4 type
Autosomal dominant
Adolescent, Adult
Primary dystonia, DYT6 type
Autosomal dominant
Adolescent, Adult, Childhood
Primary effusion lymphoma
Adult
Primary erythromelalgia
Autosomal dominant
All ages