Charcot-Marie-Tooth disease axonal type 2S
Charcot-Marie-Tooth disease type 2 that has material basis in homozygous or compound heterozygous mutation in the IGHMBP2 gene on chromosome 11q13
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Charcot-Marie-Tooth disease axonal type 2S
Summary
Charcot-Marie-Tooth disease axonal type 2S is a rare disease[1].
Key Facts
- Charcot-Marie-Tooth disease axonal type 2S's instance of is recorded as rare disease[2].
- Charcot-Marie-Tooth disease axonal type 2S's instance of is recorded as class of disease[3].
- Charcot-Marie-Tooth disease axonal type 2S is a type of Charcot-Marie-Tooth disease type 2[4].
- Charcot-Marie-Tooth disease axonal type 2S is a type of autosomal recessive axonal hereditary motor and sensory neuropathy[5].
- Charcot-Marie-Tooth disease axonal type 2S is a type of autosomal recessive disease[6].
- Charcot-Marie-Tooth disease axonal type 2S's genetic association is recorded as IGHMBP2[7].
- Charcot-Marie-Tooth disease axonal type 2S's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110171[8].
- Charcot-Marie-Tooth disease axonal type 2S's exact match is recorded as http://identifiers.org/doid/DOID:0110171[9].
- Charcot-Marie-Tooth disease axonal type 2S's on focus list of Wikimedia project is recorded as WikiProject Medicine[10].