Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
X-linked calvarial hyperostosis
X-linked recessive
Infancy, Neonatal
X-linked central congenital hypothyroidism with late-onset testicular enlargement
X-linked recessive
Infancy, Neonatal
X-linked centronuclear myopathy
X-linked recessive
Antenatal, Neonatal
X-linked cerebral-cerebellar-coloboma syndrome
X-linked recessive
Infancy, Neonatal
X-linked combined immunodeficiency due to SASH3 deficiency
X-linked recessive
Adolescent, Adult, Childhood
X-linked common variable immunodeficiency phenotype due to SH3KBP1 deficiency
X-linked recessive
X-linked cone dysfunction syndrome with myopia
X-linked recessive
Childhood
X-linked corneal dermoid
X-linked recessive
Neonatal
X-linked creatine transporter deficiency
Not applicable, X-linked recessive
Childhood, Infancy
X-linked distal spinal muscular atrophy type 3
X-linked recessive
Adolescent, Adult, Childhood, Infancy
X-linked dominant chondrodysplasia punctata
X-linked dominant
Antenatal, Infancy, Neonatal
X-linked dominant chondrodysplasia, Chassaing-Lacombe type
X-linked dominant
Infancy, Neonatal
X-linked dyserythropoietic anemia with abnormal platelets and neutropenia
X-linked recessive
All ages
X-linked dystonia-parkinsonism
Not applicable, X-linked recessive
Adult
X-linked endothelial corneal dystrophy
X-linked recessive
Infancy, Neonatal
X-linked epilepsy-learning disabilities-behavior disorders syndrome
X-linked recessive
Childhood
X-linked erythropoietic protoporphyria
X-linked dominant
Childhood
X-linked hereditary sensory and autonomic neuropathy with deafness
X-linked recessive
Childhood
X-linked hypophosphatemia
X-linked dominant
Childhood, Infancy
X-linked immune dysregulation with inflammatory bowel disease due to ELF4 deficiency
X-linked recessive
Infancy
X-linked immunoneurologic disorder
X-linked dominant
Infancy, Neonatal
X-linked intellectual disability due to GRIA3 mutations
X-linked recessive
Infancy
X-linked intellectual disability, Cilliers type
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability, Hedera type
X-linked recessive
Infancy