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 growth retardation, alopecia, pseudoanodontia and ocular manifestations that has_material_basis_in homozygous or compound heterozygous mutation in the ANTXR1 gene on chromosome 2p13.3. (DO)
Synonyms:
exact_synonym:
GAPOS; Growth Retardation, Alopecia, Pseudoanodontia and Optic Atrophy; Odontotrichomelic Syndrome; growth delay-alopecia-pseudoanodontia-optic atrophy syndrome; tetramelic deficiencies, ectodermal dysplasia, deformed ears, and other abnormalities