Disease association ontology term - MONDO:0012991 - Kahrizi syndrome
Term summary
- ID
- MONDO:0012991
- Name
- Kahrizi syndrome
- Ontology or CV name
- Disease association
- Definition
- An autosomal recessive disease that is characterized by mental retardation, cataracts, coloboma, kyphosis, and coarse facial features and has material basis in mutation in the SRD5A3 gene.
