Disease association ontology term - MONDO:0010152 - trichomegaly-retina pigmentary degeneration-dwarfism syndrome
Term summary
- ID
- MONDO:0010152
- Name
- trichomegaly-retina pigmentary degeneration-dwarfism syndrome
- Ontology or CV name
- Disease association
- Definition
- Trichomegaly-retina pigmentary degeneration-dwarfism syndrome, also known as Oliver-McFarlane syndrome, is an extremely rare genetic disorder characterized by hair abnormalities, severe chorioretinal atrophy, hypopituitarism, short stature, and intellectual disability.
