Charcot-Marie-Tooth disease
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
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
SPAC4F8.07c SPAC4G9.08c SPCC1672.05c SPBC32H8.07 SPCC1620.06c SPBC211.03c SPAC23C11.09 SPAC1565.08 SPCC1739.09c SPBC1215.01 SPAC23C11.04c SPCC736.06 SPCC18.08 SPBC17G9.03c SPAC26F1.14c SPAC19A8.03 SPBC1706.03 SPAC24H6.04 SPCC338.06c SPAC644.11c SPCC1442.15c SPBC3E7.02c SPBC2G2.12 SPAC1093.03 SPAC3F10.03 SPCC737.07c SPBC17A3.04c SPAC1093.06c SPAC3G6.05 SPBC405.04c SPBC3D6.06c SPAPB1A10.10c