Charcot-Marie-Tooth disease axonal type 2C
Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the TRPV4 gene on chromosome 12q24
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Summary
Charcot-Marie-Tooth disease axonal type 2C is a rare disease[1]. It is known by 18 alternative names across languages and contexts.[2]
Key Facts
- Instance of: class of disease[3]
- Subclass of: Charcot-Marie-Tooth disease type 2[4], autosomal dominant disease[5]
- Prevalence: 0.000001[6]
- Health specialty: neurology[7]
- Genetic association: TRPV4[8]
- Age of onset: juvenile onset[9], adult onset[10], childhood onset[11], infantile onset[12]
- Exact match: http://purl.obolibrary.org/obo/DOID_0110182[13], http://identifiers.org/doid/DOID:0110182[14]
- On focus list of Wikimedia project: WikiProject Medicine[15]
- Has phenotype: short stature[16]
- P14914: D99937[17]