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 4 that has_material_basis_in mutation in the SBF2 gene. (DO)
Synonyms:
exact_synonym:
CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2 CHARCOT-MARIE-TOOTH DISEASE, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 4B2, WITH EARLY-ONSET GLAUCOMA; CMT4B2; Charcot-Marie-Tooth Disease Type 4B2, with Early-Onset Glaucoma; Charcot-Marie-Tooth Disease, With Focally Folded Myelin Sheaths, Autosomal Recessive, Type 4B2; Charcot-Marie-Tooth Neuropathy, Type 4B2
ClinVar Annotator: match by null ClinVar Annotator: match by term: Charcot-Marie-Tooth disease type 4B2 with early-onset glaucoma ClinVar Annotator: match by OMIM:604563 ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, type 4B2