Charcot-Marie-Tooth disease type 2A2
Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the MFN2 gene on chromosome 1p36.2
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Summary
Charcot-Marie-Tooth disease type 2A2 is a rare disease[1].
Key Facts
- Charcot-Marie-Tooth disease type 2A2's instance of is recorded as rare disease[2].
- Charcot-Marie-Tooth disease type 2A2's instance of is recorded as class of disease[3].
- Charcot-Marie-Tooth disease type 2A2's subclass of is recorded as Charcot-Marie-Tooth disease type 2[4].
- Charcot-Marie-Tooth disease type 2A2's subclass of is recorded as autosomal dominant disease[5].
- Charcot-Marie-Tooth disease type 2A2's OMIM ID is recorded as 609260[6].
- Charcot-Marie-Tooth disease type 2A2's Disease Ontology ID is recorded as DOID:0110155[7].
- Charcot-Marie-Tooth disease type 2A2's Orphanet ID is recorded as 99947[8].
- Charcot-Marie-Tooth disease type 2A2's NCI Thesaurus ID is recorded as C150646[9].
- Charcot-Marie-Tooth disease type 2A2's health specialty is recorded as neurology[10].
- Charcot-Marie-Tooth disease type 2A2's genetic association is recorded as MFN2[11].
- Charcot-Marie-Tooth disease type 2A2's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110155[12].
- Charcot-Marie-Tooth disease type 2A2's exact match is recorded as http://identifiers.org/doid/DOID:0110155[13].
- Charcot-Marie-Tooth disease type 2A2's UMLS CUI is recorded as C4721887[14].
- Charcot-Marie-Tooth disease type 2A2's ICD-10-CM is recorded as G60.0[15].
- Charcot-Marie-Tooth disease type 2A2's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].