Charcot-Marie-Tooth disease type 1C
Charcot-Marie-Tooth disease type 1 that has material basis in heterozygous mutation in the LITAF gene on chromosome 16p13
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Summary
Charcot-Marie-Tooth disease type 1C is a rare disease[1].
Key Facts
- Charcot-Marie-Tooth disease type 1C's instance of is recorded as rare disease[2].
- Charcot-Marie-Tooth disease type 1C's instance of is recorded as class of disease[3].
- Charcot-Marie-Tooth disease type 1C's subclass of is recorded as Charcot-Marie-Tooth disease type 1[4].
- Charcot-Marie-Tooth disease type 1C's subclass of is recorded as autosomal dominant disease[5].
- Charcot-Marie-Tooth disease type 1C's MeSH descriptor ID is recorded as C537984[6].
- Charcot-Marie-Tooth disease type 1C's OMIM ID is recorded as 601098[7].
- Charcot-Marie-Tooth disease type 1C's Disease Ontology ID is recorded as DOID:0110151[8].
- Charcot-Marie-Tooth disease type 1C's Orphanet ID is recorded as 101083[9].
- Charcot-Marie-Tooth disease type 1C's health specialty is recorded as neurology[10].
- Charcot-Marie-Tooth disease type 1C's genetic association is recorded as LITAF[11].
- Charcot-Marie-Tooth disease type 1C's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110151[12].
- Charcot-Marie-Tooth disease type 1C's exact match is recorded as http://identifiers.org/doid/DOID:0110151[13].
- Charcot-Marie-Tooth disease type 1C's exact match is recorded as http://www.orpha.net/ORDO/Orphanet_101083[14].
- Charcot-Marie-Tooth disease type 1C's UMLS CUI is recorded as C0270913[15].
- Charcot-Marie-Tooth disease type 1C's ICD-10-CM is recorded as G60.0[16].
- Charcot-Marie-Tooth disease type 1C's GARD rare disease ID is recorded as 1247[17].
- Charcot-Marie-Tooth disease type 1C's on focus list of Wikimedia project is recorded as WikiProject Medicine[18].
- Charcot-Marie-Tooth disease type 1C's Mondo ID is recorded as MONDO_0010995[19].
- Charcot-Marie-Tooth disease type 1C's UniProt disease ID is recorded as DI-00270[20].