has material basis in germline mutation in GARS1 Charcot-Marie-Tooth disease type 2D https://github.com/monarch-initiative/mondo/issues/4521 https://rarediseases.info.nih.gov/diseases/1251/charcot-marie-tooth-disease-type-2d https://www.malacards.org/card/charcot_marie_tooth_disease_axonal_type_2d https://www.malacards.org/card/charcot_marie_tooth_disease_type_2d GARS Charcot-Marie-Tooth disease type 2 Charcot-Marie-Tooth disease type 2 caused by mutation in GARS DOID:0110164 Autosomal dominant Charcot-Marie-Tooth disease type 2D (CMT2D) is a form of axonal Charcot-Marie-Tooth disease, a peripheral sensorimotor neuropathy, characterized by distal weakness primarily and predominantly occurring in the upper limbs and tendon reflexes absent or reduced in the arms and decreased in the legs. Progression is slow. OMIM:601472 icd11.foundation:1617529678 Orphanet:99938 CMT2D UMLS:C1832274 Charcot-Marie-Tooth disease, type 2D autosomal dominant Charcot-Marie-Tooth disease type 2D MESH:C537993 GARD:0001251 CMT 2D NCIT:C122659 SCTID:717011006 MONDO:0011091 Charcot-Marie-Tooth disease, axonal, type 2D MEDGEN:316946 Charcot Marie Tooth disease type 2D Charcot-Marie-Tooth disease type 2