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
X-linked congenital generalized hypertrichosis
X-linked dominant
X-linked hyper-IgM syndrome
X-linked recessive
X-linked intellectual disability with isolated growth hormone deficiency
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability, Golabi-Ito-Hall type
X-linked recessive
Infancy, Neonatal
X-linked intellectual disability, Porteous type
X-linked recessive
Infancy
X-linked intellectual disability, Sutherland-Haan type
X-linked recessive
Antenatal, Infancy, Neonatal
Zygodactyly type 3
Autosomal dominant