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 anophthalmia and defects in the skeletal and genitourinary system that has_material_basis_in mutation in NAA10 on chromosome Xq28. (DO)
Comment:
type 4 obsoleted by omim, merged into type 1[LS]
Synonyms:
exact_synonym:
ANOP1; ANOPHTHALMIA - MICROPHTHALMIA; Lenz dysmorphogenic syndrome; Lenz dysplasia; Lenz microphthalmia; Lenz microphthalmia syndrome; Lenz syndrome; Lenz type microphthalmia; MAA; MCOPS1; microphthalmia or anophthalmos with associated anomalies; microphthalmia with ankyloblepharon and mental retardation; microphthalmia-ankyloblepharon-intellectual disability syndrome