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
ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome
Autosomal dominant
Zebra body myopathy
Unknown
Neonatal
Zellweger syndrome
Autosomal recessive
Neonatal
Zellweger-like syndrome without peroxisomal anomalies
Autosomal recessive, Mitochondrial inheritance
Childhood
Zika virus disease
Not applicable
All ages
Zollinger-Ellison syndrome
Not applicable
Adult, Elderly
Zygomycosis
Not applicable
All ages
Åland Islands eye disease
X-linked recessive
Infancy, Neonatal