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
Seborrhea-like dermatitis with psoriasiform elements
Autosomal dominant
Childhood
Seckel syndrome
Autosomal recessive
Antenatal
Secondary erythromelalgia
All ages
Secondary hypereosinophilic syndrome
All ages
Secondary hypoparathyroidism due to impaired parathormon secretion
Not applicable
Adolescent, Adult, Childhood, Elderly
Secondary intestinal lymphangiectasia
Adult, Elderly
Secondary neonatal autoimmune disease
Neonatal
Secondary non-traumatic avascular necrosis
Not applicable
Adult
Secondary polyarteritis nodosa
Not applicable
Secondary polycythemia
Autosomal dominant, Autosomal recessive
All ages
Secondary pulmonary alveolar proteinosis
Not applicable
Secondary sclerosing cholangitis
Not applicable
Secondary short bowel syndrome
Not applicable
All ages
Secondary syringomyelia
Adult
Segmental odontomaxillary dysplasia
Not applicable
Childhood
Segmental outgrowth-lipomatosis-arteriovenous malformation-epidermal nevus syndrome
Not applicable
Neonatal
Segmental progressive overgrowth syndrome with fibroadipose hyperplasia
Not applicable
Antenatal, Neonatal
Segmental venous malformation
Not applicable
Childhood, Neonatal
Seizures-intellectual disability due to hydroxylysinuria syndrome
Autosomal recessive
Infancy
Seizures-scoliosis-macrocephaly syndrome
Autosomal recessive
Infancy
Selective IgM deficiency
All ages
Selective intrauterine growth restriction
Antenatal
Self-healing papular mucinosis
All ages
Self-improving collodion baby
Autosomal recessive
Neonatal