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
Wound botulism
All ages
X-linked Emery-Dreifuss muscular dystrophy
X-linked recessive
Childhood
X-linked hypohidrotic ectodermal dysplasia
X-linked recessive
Childhood, Infancy
X-linked non-syndromic intellectual disability
X-linked recessive
Childhood, Infancy
X-linked thrombocytopenia with normal platelets
X-linked recessive
Xanthinuria type I
Autosomal recessive
Xanthinuria type II
Autosomal recessive
ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to 10p15.3 microdeletion
Autosomal dominant
ZMYND11-related developmental delay-speech delay-seizures-behavioral abnormalities-craniofacial dysmorphism syndrome due to a point mutation
Autosomal dominant