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
Combined oxidative phosphorylation defect type 8
Autosomal recessive
Infancy, Neonatal
Combined oxidative phosphorylation defect type 9
Autosomal recessive
Infancy
Combined pancreatic lipase-colipase deficiency
Neonatal
Combined pituitary hormone deficiencies, genetic forms
Autosomal dominant, Autosomal recessive, X-linked recessive
Infancy, Neonatal
Combined pulmonary fibrosis-emphysema syndrome
Not applicable
Adult
Common arterial trunk
Not applicable
Infancy, Neonatal
Common arterial trunk with aortic dominance
Common arterial trunk with pulmonary dominance and interrupted aortic arch
Common variable immunodeficiency phenotype due to CD19/CD81 deficiency
Autosomal recessive
Common variable immunodeficiency phenotype due to CD21 deficiency
Autosomal recessive
Common variable immunodeficiency phenotype due to IKAROS functional haploinsufficiency
Autosomal dominant
Adolescent, Adult, Childhood, Infancy, Neonatal
Common variable immunodeficiency phenotype due to IRF2BP2 deficiency
Autosomal dominant
Common variable immunodeficiency phenotype due to SEC61A1 deficiency
Autosomal dominant
Common variable immunodeficiency phenotype due to TWEAK deficiency
Autosomal dominant
Common variable immunodeficiency phenotype due to homozygous TACI deficiency
Autosomal recessive
Complement component 3 deficiency
Autosomal recessive
Childhood
Complement hyperactivation-angiopathic thrombosis-protein-losing enteropathy syndrome
Autosomal recessive
Childhood, Infancy
Complete androgen insensitivity syndrome
X-linked recessive
All ages
Complete atrioventricular septal defect
Not applicable
Infancy, Neonatal
Complete atrioventricular septal defect with ventricular hypoplasia
Autosomal dominant
Complete atrioventricular septal defect without ventricular hypoplasia
Complete atrioventricular septal defect-tetralogy of Fallot
Autosomal dominant, Not applicable
Complete congenital stationary night blindness, Schubert-Bornschein type
Complete cryptophthalmia
Antenatal, Neonatal