Charcot-Marie-Tooth disease axonal type 2N
Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the AARS gene on chromosome 16q21
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Summary
Charcot-Marie-Tooth disease axonal type 2N is a rare disease[1].
Key Facts
- Charcot-Marie-Tooth disease axonal type 2N's instance of is recorded as rare disease[2].
- Charcot-Marie-Tooth disease axonal type 2N's instance of is recorded as class of disease[3].
- Charcot-Marie-Tooth disease axonal type 2N's subclass of is recorded as Charcot-Marie-Tooth disease type 2[4].
- Charcot-Marie-Tooth disease axonal type 2N's subclass of is recorded as autosomal dominant disease[5].
- Charcot-Marie-Tooth disease axonal type 2N's MeSH descriptor ID is recorded as C567653[6].
- Charcot-Marie-Tooth disease axonal type 2N's OMIM ID is recorded as 613287[7].
- Charcot-Marie-Tooth disease axonal type 2N's Disease Ontology ID is recorded as DOID:0110177[8].
- Charcot-Marie-Tooth disease axonal type 2N's Orphanet ID is recorded as 228174[9].
- Charcot-Marie-Tooth disease axonal type 2N's health specialty is recorded as neurology[10].
- Charcot-Marie-Tooth disease axonal type 2N's genetic association is recorded as AARS1[11].
- Charcot-Marie-Tooth disease axonal type 2N's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110177[12].
- Charcot-Marie-Tooth disease axonal type 2N's exact match is recorded as http://identifiers.org/doid/DOID:0110177[13].
- Charcot-Marie-Tooth disease axonal type 2N's UMLS CUI is recorded as C2750090[14].
- Charcot-Marie-Tooth disease axonal type 2N's ICD-10-CM is recorded as G60.0[15].
- Charcot-Marie-Tooth disease axonal type 2N's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
- Charcot-Marie-Tooth disease axonal type 2N's Mondo ID is recorded as MONDO_0013212[17].
- Charcot-Marie-Tooth disease axonal type 2N's UniProt disease ID is recorded as DI-02678[18].