Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Gorlin syndrome
Autosomal dominant
Adolescent, Adult
Grange syndrome
Autosomal dominant, Autosomal recessive
Childhood
Grant syndrome
Unknown
Neonatal
Greig cephalopolysyndactyly syndrome
Autosomal dominant
Antenatal
Greig cephalopolysyndactyly-contiguous gene syndrome
Antenatal
Growth delay-hydrocephaly-lung hypoplasia syndrome
Antenatal
Grubben-de Cock-Borghgraef syndrome
Antenatal, Neonatal
Guttmacher syndrome
Autosomal dominant
Infancy, Neonatal
Gómez-López-Hernández syndrome
Not applicable
Neonatal
H syndrome
Autosomal recessive
Childhood
HEC syndrome
Unknown
Neonatal
HIDEA syndrome
Autosomal recessive
Infancy, Neonatal
Haddad syndrome
Autosomal dominant, Multigenic/multifactorial
Infancy, Neonatal
Hajdu-Cheney syndrome
Autosomal dominant
Childhood, Infancy
Hall-Riggs syndrome
Autosomal recessive
Neonatal
Hallermann-Streiff syndrome
Not applicable, Unknown
Antenatal, Infancy, Neonatal
Hallermann-Streiff-like syndrome
Antenatal, Neonatal
Hallux varus-preaxial polysyndactyly syndrome
Neonatal
Hand-foot-genital syndrome
Autosomal dominant
Antenatal, Neonatal
Hardikar syndrome
X-linked dominant
Neonatal
Harrod syndrome
Infancy, Neonatal
Hartsfield syndrome
Autosomal dominant, Autosomal recessive
Antenatal
Hearing loss-familial salivary gland insensitivity to aldosterone syndrome
Infancy, Neonatal
Heart defect-tongue hamartoma-polysyndactyly syndrome
Autosomal recessive
Neonatal