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.
An ocular motility disease that is characterized by the inability to move the eyes in certain directions, droopy eyelids and eyes that are fixed in an abnormal position. (DO)
Synonyms:
exact_synonym:
CFEOM; congenital external ophthalmoplegia; congenital fibrosis of extraocular muscles; congenital fibrosis syndrome; congenital ophthalmoplegia; general fibrosis syndrome
DNA:missense mutation:CDS:2860C>T (p.R954W) (human) ClinVar Annotator: match by term: BLEPHAROPTOSIS WITH ABSENT EYE MOVEMENTS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3b
ClinVar Annotator: match by term: FEOM3 LOCUS | ClinVar Annotator: match by term: Fibrosis of extraocular muscles, congenital, 3A, with or without extraocular involvement | ClinVar Annotator: match by term: TUBB3-Related Disorder | ClinVar Annotator: match by term: TUBB3-related tubulinopathy