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 Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). (DO)
Synonyms:
exact_synonym:
CMT1A; Charcot Marie Tooth disease, type IA; Charcot Marie Tooth neuropathy, type 1A; Charcot-Marie-Tooth disease, autosomal dominant, with focally folded myelin sheaths, type 1A; Charcot-Marie-Tooth disease, demyelinating, type 1A; Charcot-Marie-Tooth disease, type 1A, with focally folded myelin sheaths; HMSN 1A; HMSN IA; HMSN1A; hereditary motor and sensory neuropathy 1A; hereditary motor and sensory neuropathy IA; microduplication 17p12
OMIM:118220 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1a, with focally folded myelin sheaths | ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IA | ClinVar Annotator: match by term: HMSN 1A