Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
Isolated distal symphalangism
Autosomal dominant
Infancy, Neonatal
Isolated female hypospadias
Neonatal
Isolated femoral agenesis/hypoplasia
Antenatal, Neonatal
Isolated fibular hemimelia
Not applicable
Antenatal
Isolated gallbladder duplication
Not applicable
Isolated gastric duplication
Not applicable
Adult, Childhood, Infancy, Neonatal
Isolated geographic pattern capillary malformation
Not applicable
Isolated hemihyperplasia
Autosomal dominant
Adolescent, Childhood, Infancy
Isolated hereditary congenital facial paralysis
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Isolated humero-radial synostosis
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Isolated humero-radio-ulnar synostosis
Unknown
Antenatal, Neonatal
Isolated humero-ulnar synostosis
Not applicable
No data available
Isolated left bronchial isomerism
Adult, Elderly
Isolated multiple intestinal atresia
Autosomal recessive
Antenatal, Neonatal
Isolated nail clubbing
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
Isolated optic nerve aplasia
Infancy, Neonatal
Isolated optic nerve hypoplasia
Isolated partial vaginal agenesis
Isolated patella aplasia/hypoplasia
Autosomal dominant
Infancy, Neonatal
Isolated posterior meningocele
Multigenic/multifactorial, Not applicable
Infancy, Neonatal
Isolated proximal femoral focal deficiency
Neonatal
Isolated pyloric duplication
Not applicable
Neonatal
Isolated radial hemimelia
Multigenic/multifactorial, X-linked recessive
Antenatal, Infancy, Neonatal
Isolated radio-ulnar synostosis
Unknown
Childhood, Infancy