Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
10p13-p14 deletion syndrome
Not applicable
10q22.3q23.3 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
10q22.3q23.3 microduplication syndrome
Not applicable, Unknown
Infancy, Neonatal
11p15.4 microduplication syndrome
Autosomal dominant
Infancy, Neonatal
11q22.2q22.3 microdeletion syndrome
Not applicable
Infancy, Neonatal
12p12.1 microdeletion syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal
12q14 microdeletion syndrome
Unknown
Childhood
12q15q21 microdeletion syndrome
Autosomal dominant
Infancy, Neonatal
13q12.3 microdeletion syndrome
Unknown
Neonatal
14q11.2 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
14q11.2 microduplication syndrome
Infancy, Neonatal
14q22q23 microdeletion syndrome
Not applicable
Antenatal, Infancy, Neonatal
14q24.1q24.3 microdeletion syndrome
Unknown
Neonatal
14q32 duplication syndrome
Adult
15q overgrowth syndrome
Not applicable, Unknown
Antenatal, Infancy, Neonatal
15q11.2 microdeletion syndrome
Not applicable
Infancy, Neonatal
15q11q13 microduplication syndrome
Not applicable, Unknown
Infancy, Neonatal
15q13.3 microdeletion syndrome
Autosomal dominant, Not applicable
Childhood
15q24 microdeletion syndrome
Not applicable, Unknown
Childhood
16p11.2p12.2 microdeletion syndrome
Not applicable, Unknown
Infancy, Neonatal
16p11.2p12.2 microduplication syndrome
Antenatal, Infancy, Neonatal
16p12.1p12.3 triplication syndrome
Antenatal, Neonatal
16p13.11 microdeletion syndrome
Autosomal dominant, Not applicable
Infancy, Neonatal
16p13.11 microduplication syndrome
Not applicable, Unknown
Infancy, Neonatal