RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.
A syndrome characterized by trichomegaly, severe chorioretinal atrophy and multiple pituitary hormone deficiencies that has_material_basis_in homozygous or compound heterozygous mutation in PNPLA6 on 19p13.2. (DO)
Synonyms:
exact_synonym:
OMCS; congenital trichomegaly, pigmentary retinal degeneration, and short stature; long eyelashes with mental retardation; long eyelashes, mental retardation; long eyelashes-intellectual disability syndrome; trichomegaly with mental retardation, dwarfism, and pigmentary degeneration of retina; trichomegaly, pigmentary retina degeneration, dwarfism; trichomegaly-retina pigmentary degeneration-dwarfism syndrome