Disease association ontology term - MONDO:0007100 - familial amyloid neuropathy
Term summary
- ID
- MONDO:0007100
- Name
- familial amyloid neuropathy
- Ontology or CV name
- Disease association
- Definition
- A rare genetic systemic disease characterized by adult onset, progressive sensorimotor and autonomic neuropathy and infiltrative cardiomyopathy. Neurological involvement usually starts with sensory loss in the extremities and progresses with motor neuropathy. Cardiomyopathy presents with rhythm abnormalities and heart failure. The disease also frequently manifests with a range of additional clinical signs and symptoms due to associated ocular, renal, central nervous system and gastrointestinal involvement.
