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 heterozygous mutation in the LITAF gene on chromosome 16p13. (DO)
Synonyms:
exact_synonym:
CHARCOT-MARIE-TOOTH DISEASE, TYPE IC; CMT, slow nerve conduction type C; CMT1C; Charcot-Marie-Tooth disease, demyelinating, type 1C; Charcot-Marie-Tooth neuropathy, type 1C; HMSN IC; HMSN1C; HMSNIC; hereditary motor and sensory neuropathy type 1C; hereditary motor and sensory neuropathy type IC
ClinVar Annotator: match by OMIM:601098 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 1C ClinVar Annotator: match by term: NEUROPATHY, HEREDITARY MOTOR AND SENSORY, TYPE IC ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type IC