Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Secondary neonatal autoimmune disease
Neonatal
Secondary polycythemia
Autosomal dominant, Autosomal recessive
All ages
Sideroblastic anemia
Autosomal dominant, Autosomal recessive, Mitochondrial inheritance, Not applicable, X-linked dominant, X-linked recessive
All ages
Spina bifida and other spinal dysraphisms
Multigenic/multifactorial, Not applicable
Infancy, Neonatal
Staphylococcal toxemia
All ages
Stromal corneal dystrophy
Autosomal dominant, Autosomal recessive
All ages
Superficial corneal dystrophy
Autosomal dominant, X-linked recessive
All ages
Syndrome with woolly hair
Neonatal
Syndromic hypothyroidism
Systemic diseases with anterior uveitis
Adolescent, Adult, Childhood, Elderly
T-cell non-Hodgkin lymphoma
Therapy related acute myeloid leukemia and myelodysplastic syndrome
All ages
Thymic epithelial neoplasm
Autosomal recessive, Not applicable
Adult
Toxic dermatosis
Not applicable
All ages
Transposition of the great arteries
Multigenic/multifactorial, Not applicable
Infancy, Neonatal
Tumor of cranial and spinal nerves
Tumor of endocrine glands
Tumor of testis and paratestis
Unclassified acute myeloid leukemia
Unclassified autoinflammatory syndrome
Antenatal, Infancy, Neonatal
Uveitis
Variant of Guillain-Barré syndrome
Multigenic/multifactorial, Not applicable
All ages
Vasculitis
Viral hemorrhagic fever
Not applicable
All ages