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 neurologic disorder characterized by onset of peripheral neuropathy in the first years of life. Patients have difficulty walking due to distal muscle weakness; upper limbs may also be affected. Sensory impairment is more variable. Patients often have optic atrophy. (OMIM)
Synonyms:
exact_synonym:
AR-CMT2, Ouvrier type; CMT2A2B; SEOAN due to MFN2 deficiency; autosomal recessive Charcot-Marie-Tooth disease, Ouvrier type; axonal Charcot-Marie-Tooth disease, autosomal recessive, type 2A2B; axonal Charcot-Marie-Tooth disease, type 2A2B; severe early-onset axonal neuropathy due to MFN2 deficiency
narrow_synonym:
axonal Charcot-Marie-Tooth disease, type 2A2, autosomal recessive
ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b ClinVar Annotator: match by term: Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2A2B