Charcot-Marie-Tooth disease type 2E
Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the light polypeptide neurofilament protein gene (NEFL) on chromosome 8p21
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Summary
Charcot-Marie-Tooth disease type 2E is a rare disease[1].
Key Facts
- Charcot-Marie-Tooth disease type 2E's instance of is recorded as rare disease[2].
- Charcot-Marie-Tooth disease type 2E's instance of is recorded as class of disease[3].
- Charcot-Marie-Tooth disease type 2E's subclass of is recorded as Charcot-Marie-Tooth disease type 2[4].
- Charcot-Marie-Tooth disease type 2E's subclass of is recorded as autosomal dominant disease[5].
- Charcot-Marie-Tooth disease type 2E's MeSH descriptor ID is recorded as C537994[6].
- Charcot-Marie-Tooth disease type 2E's OMIM ID is recorded as 607684[7].
- Charcot-Marie-Tooth disease type 2E's Disease Ontology ID is recorded as DOID:0110165[8].
- Charcot-Marie-Tooth disease type 2E's Orphanet ID is recorded as 99939[9].
- Charcot-Marie-Tooth disease type 2E's NCI Thesaurus ID is recorded as C134953[10].
- Charcot-Marie-Tooth disease type 2E's health specialty is recorded as neurology[11].
- Charcot-Marie-Tooth disease type 2E's genetic association is recorded as NEFL[12].
- Charcot-Marie-Tooth disease type 2E's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110165[13].
- Charcot-Marie-Tooth disease type 2E's exact match is recorded as http://identifiers.org/doid/DOID:0110165[14].
- Charcot-Marie-Tooth disease type 2E's UMLS CUI is recorded as C1843225[15].
- Charcot-Marie-Tooth disease type 2E's ICD-10-CM is recorded as G60.0[16].
- Charcot-Marie-Tooth disease type 2E's GARD rare disease ID is recorded as 9193[17].
- Charcot-Marie-Tooth disease type 2E's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- Charcot-Marie-Tooth disease type 2E's Mondo ID is recorded as MONDO_0011894[19].
- Charcot-Marie-Tooth disease type 2E's UniProt disease ID is recorded as DI-00279[20].