Orphanet Database · Orphadata CC-BY-4.0
Rare (orphan) diseases
The full catalogue of 7,547 diseases with genetics, phenotypes, epidemiology, orphan drugs, and clinical trials.
7,547
Diseases
4 552
Genes
8 700
Phenotypes
140
Regions
All (7,547)Bio anomalyCategoryClinical groupClinical subtypeClinical syndromeDiseaseEtiological subtypeHistopathological subtypeMalformationMorphological anomalyClinical situation
Mosaic NF2-related schwannomatosis
Infancy, Neonatal
Mosaic genome-wide paternal uniparental disomy syndrome
Antenatal, Neonatal
Mosaic monosomy X syndrome
Not applicable
Antenatal, Childhood, Infancy, Neonatal
Mosaic neurofibromatosis type 1
Infancy, Neonatal
Mosaic schwannomatosis
Infancy, Neonatal
Mosaic trisomy 1 syndrome
Neonatal
Mosaic trisomy 10 syndrome
Antenatal, Neonatal
Mosaic trisomy 12 syndrome
Antenatal, Neonatal
Mosaic trisomy 14 syndrome
Antenatal, Neonatal
Mosaic trisomy 15 syndrome
Antenatal, Neonatal
Mosaic trisomy 16 syndrome
Antenatal, Neonatal
Mosaic trisomy 17 syndrome
Antenatal, Neonatal
Mosaic trisomy 2 syndrome
Antenatal, Neonatal
Mosaic trisomy 20 syndrome
Antenatal, Neonatal
Mosaic trisomy 22 syndrome
Antenatal, Neonatal
Mosaic trisomy 3 syndrome
Antenatal, Neonatal
Mosaic trisomy 4 syndrome
Antenatal, Neonatal
Mosaic trisomy 5 syndrome
Antenatal, Neonatal
Mosaic trisomy 7 syndrome
Antenatal, Neonatal
Mosaic trisomy 8 syndrome
Not applicable, Unknown
Antenatal, Infancy, Neonatal
Mosaic trisomy 9 syndrome
Infancy, Neonatal
Mosaic variegated aneuploidy syndrome
Autosomal dominant, Autosomal recessive
Antenatal, Neonatal
Motor delay-microcephaly-speech impairment-ocular abnormalities syndrome
Autosomal dominant
Motor incoordination-myopathy-respiratory insufficiency-progressive cerebellar atrophy syndrome
Autosomal recessive