Charcot-Marie-Tooth disease recessive intermediate D
Charcot-Marie-Tooth disease intermediate type that has material basis in homozygous mutation in the COX6A1 gene on chromosome 12q24
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Summary
Charcot-Marie-Tooth disease recessive intermediate D is a developmental defect during embryogenesis[1]. It is known by 8 alternative names across languages and contexts.[2]
Key Facts
- Instance of: rare disease[3], class of disease[4]
- Subclass of: Charcot-Marie-Tooth disease intermediate type[5], autosomal recessive intermediate Charcot-Marie-Tooth disease[6], mitochondrial oxidative phosphorylation disorder due to nuclear DNA anomalies[7], rare genetic developmental defect during embryogenesis[8], autosomal recessive disease[9]
- Health specialty: neurology[10]
- Genetic association: COX6A1[11]
- Exact match: http://purl.obolibrary.org/obo/DOID_0110203[12], http://identifiers.org/doid/DOID:0110203[13]
- On focus list of Wikimedia project: WikiProject Medicine[14]