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 syndromic microphthalmia characterized by unilateral or bilateral microphthalmia or clinical anophthalmia and variable additional features that has_material_basis_in heterozygous mutation in OTX2 on chromosome 14q22.3. (DO)
Synonyms:
exact_synonym:
ANOPHTHALMIA-MICROPHTHALMIA SYNDROME; MCOPS5; MCOPS5 RETINAL DYSTROPHY, EARLY-ONSET, WITH OR WITHOUT PITUITARY DYSFUNCTION,; OTX2-RELATED SYNDROMIC MICROPHTHALMIA; syndromic microphthalmia type 5; syndromic microphthalmia/anophthalmia due to OTX2 mutation
narrow_synonym:
early-onset retinal dystrophy and pituitary dysfunction
ClinVar Annotator: match by OMIM:610125 ClinVar Annotator: match by term: Syndromic microphthalmia type 5 ClinVar Annotator: match by term: Anophthalmia-microphthalmia syndrome ClinVar Annotator: match by term: OTX2-Related Syndromic Microphthalmia ClinVar Annotator: match by term: Microphthalmia syndromic 5