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 congenital fibrosis of the extraocular muscles that is characterized by bilateral blepharoptosis and ophthalmoplegia with the eyes fixed in an infraducted position about 20 to 30 degrees below the horizontal midline and that has_material_basis_in heterozygous mutation in the KIF21A gene on chromosome 12q12. (DO)
Synonyms:
exact_synonym:
CFEOM1; FEOM1; KIF21A-RELATED CONDITION; congenital fibrosis of extraocular muscles 1
broad_synonym:
blepharoptosis with absent eye movements
related_synonym:
CFEOM3B; congenital fibrosis of extraocular muscles 3B
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: KIF21A-related condition CTD Direct Evidence: marker/mechanism