Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
4q21 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
4q25 proximal deletion syndrome
Infancy
5-fluorouracil poisoning
Not applicable
Adult, Elderly
5-oxoprolinase deficiency
Autosomal recessive
Childhood, Infancy, Neonatal
5p13 microduplication syndrome
Not applicable, Unknown
Infancy, Neonatal
5q14.3 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
5q22 microdeletion syndrome
Not applicable
Adult
5q35 microduplication syndrome
Not applicable, Unknown
Childhood
6-pyruvoyl-tetrahydropterin synthase deficiency
Autosomal recessive
Infancy, Neonatal
6p22 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
6q terminal deletion syndrome
Not applicable, Unknown
Infancy, Neonatal
6q16 microdeletion syndrome
Unknown
Antenatal, Infancy, Neonatal
6q25.1 microdeletion syndrome
Not applicable
6q25.2q25.3 microdeletion syndrome
Not applicable
Infancy, Neonatal
7p22.1 microduplication syndrome
Autosomal recessive
Infancy, Neonatal
7q11.23 microduplication syndrome
Infancy, Neonatal
7q31 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
8p inverted duplication/deletion syndrome
Not applicable, Unknown
Antenatal, Infancy, Neonatal
8p11.2 deletion syndrome
Not applicable, Unknown
Infancy, Neonatal
8p23.1 duplication syndrome
Not applicable, Unknown
Antenatal, Infancy, Neonatal
8p23.1 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
8q12 microduplication syndrome
Not applicable, Unknown
Infancy, Neonatal
8q21.11 microdeletion syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal
8q22.1 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal