Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
46,XX difference of sex development-skeletal anomalies syndrome
Unknown
No data available
46,XX gonadal dysgenesis
Autosomal dominant, Autosomal recessive, Not applicable, X-linked recessive
Adolescent, Adult
46,XX ovarian dysgenesis-short stature syndrome
Autosomal recessive
Adolescent
46,XX ovotesticular difference of sex development
Autosomal dominant, Autosomal recessive
Adolescent, Antenatal, Neonatal
46,XX testicular difference of sex development
Autosomal dominant
Adolescent, Antenatal, Neonatal
46,XY complete gonadal dysgenesis
Autosomal dominant, Autosomal recessive, X-linked recessive, Y-linked
Adolescent, Adult
46,XY difference of sex development
46,XY difference of sex development due to 17-beta-hydroxysteroid dehydrogenase 3 deficiency
Autosomal recessive
Adolescent, Neonatal
46,XY difference of sex development due to 5-alpha-reductase 2 deficiency
Autosomal recessive
Adolescent, Childhood, Infancy, Neonatal
46,XY difference of sex development due to isolated 17,20-lyase deficiency
Autosomal recessive
Neonatal
46,XY difference of sex development due to testicular 17,20-desmolase deficiency
Autosomal recessive
Neonatal
46,XY difference of sex development-adrenal insufficiency due to CYP11A1 deficiency
Autosomal dominant, Autosomal recessive
Infancy, Neonatal
46,XY gonadal dysgenesis-motor and sensory neuropathy syndrome
Autosomal recessive
Infancy, Neonatal
46,XY ovotesticular difference of sex development
Antenatal, Neonatal
46,XY partial gonadal dysgenesis
Autosomal dominant, Autosomal recessive, X-linked recessive, Y-linked
Infancy, Neonatal
47,XYY syndrome
Not applicable
All ages
48,XXXY syndrome
Not applicable, Unknown
Antenatal, Infancy, Neonatal
48,XXYY syndrome
Not applicable, Unknown
Adolescent, Childhood, Infancy, Neonatal
48,XYYY syndrome
Antenatal, Infancy, Neonatal
49,XXXXY syndrome
Not applicable, Unknown
Childhood
49,XXXYY syndrome
Neonatal
49,XYYYY syndrome
Antenatal, Infancy, Neonatal
4H leukodystrophy
Adolescent, Adult, Childhood, Infancy
4p16.3 microduplication syndrome
Infancy, Neonatal