Charcot-Marie-Tooth disease
An inherited degenerative disorder involving the peripheral nerves. It is caused by mutations in the genes that are responsible for the production of proteins necessary for the function and structure of the peripheral nerves. It is characterized by muscle atrophy and weakness in the feet, legs, hands, and arms and loss of sensation in the limbs.
MONDO:0020127
hereditary peripheral neuropathy
is_a
CMT
exact
CMT/HMSN
exact
Charcot Marie Tooth disease
related
Charcot Marie Tooth muscular atrophy
exact
Charcot-Marie-Tooth disease
exact
Charcot-Marie-Tooth hereditary neuropathy
exact
hereditary motor and sensory neuropathy
broad
hereditary sensorimotor neuropathy
broad
peroneal muscular atrophy
exact
SPAC1565.08 SPCC737.07c SPAPB1A10.10c SPBC2G2.12 SPAC4F8.07c SPCC1442.15c SPAC1093.03 SPAC3F10.03 SPBC211.03c SPBC1706.03 SPCC736.06 SPAC4G9.08c SPAC1093.06c SPCC1620.06c SPCC18.08 SPAC26F1.14c SPAC24H6.04 SPAC3G6.05 SPBC32H8.07 SPBC17A3.04c SPBC3E7.02c SPBC3D6.06c SPBC17G9.03c SPAC644.11c SPCC338.06c SPBC1215.01 SPBC405.04c SPCC1672.05c SPAC19A8.03 SPCC1739.09c SPAC23C11.09 SPAC23C11.04c