Charcot-Marie-Tooth disease axonal type 20
Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the DYNC1H1 gene on chromosome 14q32
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Summary
Charcot-Marie-Tooth disease axonal type 20 is a rare disease[1].
Key Facts
- Charcot-Marie-Tooth disease axonal type 20's instance of is recorded as rare disease[2].
- Charcot-Marie-Tooth disease axonal type 20's instance of is recorded as class of disease[3].
- Charcot-Marie-Tooth disease axonal type 20's subclass of is recorded as Charcot-Marie-Tooth disease type 2[4].
- Charcot-Marie-Tooth disease axonal type 20's subclass of is recorded as autosomal dominant disease[5].
- Charcot-Marie-Tooth disease axonal type 20's OMIM ID is recorded as 614228[6].
- Charcot-Marie-Tooth disease axonal type 20's Disease Ontology ID is recorded as DOID:0110175[7].
- Charcot-Marie-Tooth disease axonal type 20's Orphanet ID is recorded as 284232[8].
- Charcot-Marie-Tooth disease axonal type 20's health specialty is recorded as neurology[9].
- Charcot-Marie-Tooth disease axonal type 20's genetic association is recorded as DYNC1H1[10].
- Charcot-Marie-Tooth disease axonal type 20's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110175[11].
- Charcot-Marie-Tooth disease axonal type 20's exact match is recorded as http://identifiers.org/doid/DOID:0110175[12].
- Charcot-Marie-Tooth disease axonal type 20's UMLS CUI is recorded as C3280220[13].
- Charcot-Marie-Tooth disease axonal type 20's ICD-10-CM is recorded as G60.0[14].
- Charcot-Marie-Tooth disease axonal type 20's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- Charcot-Marie-Tooth disease axonal type 20's Mondo ID is recorded as MONDO_0013644[16].
- Charcot-Marie-Tooth disease axonal type 20's UniProt disease ID is recorded as DI-03264[17].