Disease association ontology term - MONDO:0013584 - hereditary sensory neuropathy-deafness-dementia syndrome
Term summary
- ID
- MONDO:0013584
- Name
- hereditary sensory neuropathy-deafness-dementia syndrome
- Ontology or CV name
- Disease association
- Definition
- A hereditary sensory neuropathy characterized by adult onset of progressive peripheral sensory loss, progressive hearing impairment, and early-onset dementia that has material basis in heterozygous mutation in the DNMT1 gene on chromosome 19p13.