Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
X-linked intellectual disability, Najm type
X-linked dominant
Infancy, Neonatal
X-linked intellectual disability, Nascimento type
X-linked recessive
Infancy
X-linked intellectual disability, Seemanova type
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability, Snyder type
X-linked recessive
Adolescent, Childhood, Infancy
X-linked intellectual disability-acromegaly-hyperactivity syndrome
X-linked recessive
Childhood
X-linked intellectual disability-ataxia-apraxia syndrome
X-linked recessive
Childhood
X-linked intellectual disability-cardiomegaly-congestive heart failure syndrome
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability-cerebellar hypoplasia syndrome
X-linked dominant
Infancy, Neonatal
X-linked intellectual disability-craniofacioskeletal syndrome
Unknown
Antenatal, Infancy, Neonatal
X-linked intellectual disability-hypotonia-movement disorder syndrome
X-linked dominant
Adolescent, Childhood
X-linked intellectual disability-limb spasticity-retinal dystrophy-arginine vasopressin deficiency
X-linked recessive
Antenatal, Neonatal
X-linked intellectual disability-retinitis pigmentosa syndrome
X-linked recessive
Antenatal, Infancy, Neonatal
X-linked intellectual disability-seizures-psoriasis syndrome
X-linked recessive
Infancy, Neonatal
X-linked lymphoproliferative disease due to SAP deficiency
X-linked recessive
Adolescent, Adult, Childhood, Infancy
X-linked lymphoproliferative disease due to XIAP deficiency
X-linked recessive
Adolescent, Adult, Childhood, Infancy
X-linked mendelian susceptibility to mycobacterial diseases
X-linked recessive
Adolescent, Childhood, Infancy
X-linked myopathy with excessive autophagy
X-linked recessive
Adolescent, Adult, Childhood, Infancy, Neonatal
X-linked myopathy with postural muscle atrophy
X-linked recessive
Adult
X-linked myotubular myopathy-abnormal genitalia syndrome
Unknown
Antenatal, Neonatal
X-linked neurodegenerative syndrome, Bertini type
X-linked recessive
Infancy, Neonatal
X-linked neurodegenerative syndrome, Hamel type
X-linked recessive
Infancy, Neonatal
X-linked non progressive cerebellar ataxia
X-linked recessive
Infancy, Neonatal
X-linked osteoporosis with fractures
X-linked recessive
Childhood
X-linked parkinsonism-spasticity syndrome
X-linked recessive
Adolescent, Adult