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
Ulnar hypoplasia-split foot syndrome
Neonatal
Ulnar-mammary syndrome
Autosomal dominant
Adolescent, Antenatal, Infancy, Neonatal
Ulnar/fibula ray defect-brachydactyly syndrome
Autosomal dominant
Infancy, Neonatal
Umbilical cord ulceration-intestinal atresia syndrome
Unknown
Antenatal
Unclassified acute myeloid leukemia
Unclassified autoinflammatory syndrome
Antenatal, Infancy, Neonatal
Unclassified myelodysplastic syndrome
Not applicable
All ages
Unclassified vasculitis
Not applicable
Uncombable hair syndrome
Autosomal recessive
Childhood
Undifferentiated carcinoma of esophagus
Not applicable
Adult, Elderly
Undifferentiated carcinoma of liver and intrahepatic biliary tract
Not applicable
Adult
Undifferentiated carcinoma of stomach
Not applicable
Adult
Undifferentiated carcinoma with osteoclast-like giant cells of pancreas
Not applicable
Adult
Undifferentiated pleomorphic sarcoma
Not applicable
Adolescent, Adult, Childhood, Elderly
Unexplained long-lasting fever/inflammatory syndrome
All ages
Unicentric Castleman disease
All ages
Unifocal Langerhans cell histiocytosis
Not applicable
Unilateral focal polymicrogyria
Antenatal, Infancy, Neonatal
Unilateral hemispheric polymicrogyria
Antenatal, Infancy, Neonatal
Unilateral multicystic dysplastic kidney
Autosomal dominant
All ages
Unilateral ocular duplication
Autosomal dominant
Neonatal
Unilateral polymicrogyria
Infancy, Neonatal
Univentricular heart
Not applicable
Infancy, Neonatal
Unspecified juvenile idiopathic arthritis
Childhood, Infancy