Disease association ontology term - MONDO:0030045 - Liberfarb syndrome
Term summary
- ID
- MONDO:0030045
- Name
- Liberfarb syndrome
- Ontology or CV name
- Disease association
- Definition
- A progressive disorder involving connective tissue, bone, retina, ear, and brain, characterized by early-onset retinal degeneration, sensorineural hearing loss, microcephaly, intellectual disability, and skeletal dysplasia with scoliosis and short stature.
