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.
Term:
Autosomal Recessive Peripheral Neuropathy with or without Impaired Intellectual Development
An early childhood-onset neurologic disorder characterized by slowly progressive distal motor impairment resulting in gait difficulties, often with loss of ambulation, and difficulties using the hands in most patients. (OMIM)
ClinVar Annotator: match by term: MCM3AP-related condition | ClinVar Annotator: match by term: Peripheral neuropathy, autosomal recessive, with or without impaired intellectual development