Charcot-Marie-Tooth disease type 2B1
Charcot-Marie-Tooth disease type 2 that has material basis in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22
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Charcot-Marie-Tooth disease type 2B1
Summary
Charcot-Marie-Tooth disease type 2B1 is a rare disease[1].
Key Facts
- Charcot-Marie-Tooth disease type 2B1's instance of is recorded as rare disease[2].
- Charcot-Marie-Tooth disease type 2B1's instance of is recorded as class of disease[3].
- Charcot-Marie-Tooth disease type 2B1 is a type of Charcot-Marie-Tooth disease type 2[4].
- Charcot-Marie-Tooth disease type 2B1 is a type of autosomal recessive axonal hereditary motor and sensory neuropathy[5].
- Charcot-Marie-Tooth disease type 2B1 is a type of autosomal recessive disease[6].
- Charcot-Marie-Tooth disease type 2B1's health specialty is recorded as neurology[7].
- Charcot-Marie-Tooth disease type 2B1's genetic association is recorded as LMNA[8].
- Charcot-Marie-Tooth disease type 2B1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110156[9].
- Charcot-Marie-Tooth disease type 2B1's exact match is recorded as http://identifiers.org/doid/DOID:0110156[10].
- Charcot-Marie-Tooth disease type 2B1's on focus list of Wikimedia project is recorded as WikiProject Medicine[11].