Charcot-Marie-Tooth disease X-linked dominant 1
Charcot-Marie-Tooth disease X-linked that has material basis in hemizygous or heterozygous mutation in the GJB1 gene on chromosome Xq13
Press Enter · cited answer in seconds
0 sources
Charcot-Marie-Tooth disease X-linked dominant 1
Summary
Charcot-Marie-Tooth disease X-linked dominant 1 is a rare disease[1].
Key Facts
- Charcot-Marie-Tooth disease X-linked dominant 1's instance of is recorded as rare disease[2].
- Charcot-Marie-Tooth disease X-linked dominant 1's instance of is recorded as class of disease[3].
- Charcot-Marie-Tooth disease X-linked dominant 1's subclass of is recorded as Charcot-Marie-Tooth disease type X[4].
- Charcot-Marie-Tooth disease X-linked dominant 1's subclass of is recorded as X-linked dominant disease[5].
- Charcot-Marie-Tooth disease X-linked dominant 1's OMIM ID is recorded as 302800[6].
- Charcot-Marie-Tooth disease X-linked dominant 1's Disease Ontology ID is recorded as DOID:0110209[7].
- Charcot-Marie-Tooth disease X-linked dominant 1's Orphanet ID is recorded as 101075[8].
- Charcot-Marie-Tooth disease X-linked dominant 1's NCI Thesaurus ID is recorded as C129068[9].
- Charcot-Marie-Tooth disease X-linked dominant 1's health specialty is recorded as neurology[10].
- Charcot-Marie-Tooth disease X-linked dominant 1's genetic association is recorded as GJB1[11].
- Charcot-Marie-Tooth disease X-linked dominant 1's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110209[12].
- Charcot-Marie-Tooth disease X-linked dominant 1's exact match is recorded as http://identifiers.org/doid/DOID:0110209[13].
- Charcot-Marie-Tooth disease X-linked dominant 1's UMLS CUI is recorded as C0393808[14].
- Charcot-Marie-Tooth disease X-linked dominant 1's ICD-10-CM is recorded as G60.0[15].
- Charcot-Marie-Tooth disease X-linked dominant 1's on focus list of Wikimedia project is recorded as WikiProject Medicine[16].
- Charcot-Marie-Tooth disease X-linked dominant 1's Mondo ID is recorded as MONDO_0010549[17].
- Charcot-Marie-Tooth disease X-linked dominant 1's UniProt disease ID is recorded as DI-00293[18].