Charcot-Marie-Tooth disease type 2B
Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the RAB7 gene on chromosome 3q21
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Summary
Charcot-Marie-Tooth disease type 2B is a rare disease[1].
Key Facts
- Charcot-Marie-Tooth disease type 2B's instance of is recorded as rare disease[2].
- Charcot-Marie-Tooth disease type 2B's instance of is recorded as class of disease[3].
- Charcot-Marie-Tooth disease type 2B's subclass of is recorded as Charcot-Marie-Tooth disease type 2[4].
- Charcot-Marie-Tooth disease type 2B's subclass of is recorded as autosomal dominant disease[5].
- Charcot-Marie-Tooth disease type 2B's MeSH descriptor ID is recorded as C537989[6].
- Charcot-Marie-Tooth disease type 2B's OMIM ID is recorded as 600882[7].
- Charcot-Marie-Tooth disease type 2B's Disease Ontology ID is recorded as DOID:0110159[8].
- Charcot-Marie-Tooth disease type 2B's Orphanet ID is recorded as 99936[9].
- Charcot-Marie-Tooth disease type 2B's health specialty is recorded as neurology[10].
- Charcot-Marie-Tooth disease type 2B's genetic association is recorded as RAB7A[11].
- Charcot-Marie-Tooth disease type 2B's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110159[12].
- Charcot-Marie-Tooth disease type 2B's exact match is recorded as http://identifiers.org/doid/DOID:0110159[13].
- Charcot-Marie-Tooth disease type 2B's UMLS CUI is recorded as C1833219[14].
- Charcot-Marie-Tooth disease type 2B's ICD-10-CM is recorded as G60.0[15].
- Charcot-Marie-Tooth disease type 2B's GARD rare disease ID is recorded as 9192[16].
- Charcot-Marie-Tooth disease type 2B's on focus list of Wikimedia project is recorded as WikiProject Medicine[17].
- Charcot-Marie-Tooth disease type 2B's Mondo ID is recorded as MONDO_0010949[18].
- Charcot-Marie-Tooth disease type 2B's UniProt disease ID is recorded as DI-00276[19].