Charcot-Marie-Tooth disease axonal type 2CC
Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the NEFH gene on chromosome 22q12
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Summary
Charcot-Marie-Tooth disease axonal type 2CC is a rare disease[1].
Key Facts
- Charcot-Marie-Tooth disease axonal type 2CC's instance of is recorded as rare disease[2].
- Charcot-Marie-Tooth disease axonal type 2CC's instance of is recorded as class of disease[3].
- Charcot-Marie-Tooth disease axonal type 2CC's subclass of is recorded as Charcot-Marie-Tooth disease type 2[4].
- Charcot-Marie-Tooth disease axonal type 2CC's subclass of is recorded as autosomal dominant disease[5].
- Charcot-Marie-Tooth disease axonal type 2CC's OMIM ID is recorded as 616924[6].
- Charcot-Marie-Tooth disease axonal type 2CC's Disease Ontology ID is recorded as DOID:0110180[7].
- Charcot-Marie-Tooth disease axonal type 2CC's genetic association is recorded as NEFH[8].
- Charcot-Marie-Tooth disease axonal type 2CC's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110180[9].
- Charcot-Marie-Tooth disease axonal type 2CC's exact match is recorded as http://identifiers.org/doid/DOID:0110180[10].
- Charcot-Marie-Tooth disease axonal type 2CC's UMLS CUI is recorded as C4310790[11].
- Charcot-Marie-Tooth disease axonal type 2CC's on focus list of Wikimedia project is recorded as WikiProject Medicine[12].
- Charcot-Marie-Tooth disease axonal type 2CC's Mondo ID is recorded as MONDO_0014836[13].
- Charcot-Marie-Tooth disease axonal type 2CC's UniProt disease ID is recorded as DI-04709[14].