Disease association ontology term - MONDO:0008962 - Griscelli syndrome type 1
Term summary
- ID
- MONDO:0008962
- Name
- Griscelli syndrome type 1
- Ontology or CV name
- Disease association
- Definition
- A Griscelli syndrome characterized by silvery gray sheen of the hair, hypopigmentation of the skin and neurological impairment without immunodeficiency that has material basis in mutations in the MYO5A gene on chromosome 15q21.2.
