Charcot-Marie-Tooth disease axonal type 2U
Charcot-Marie-Tooth disease type 2 that has material basis in heterozygous mutation in the MARS gene on chromosome 12q13
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Summary
Charcot-Marie-Tooth disease axonal type 2U is a rare disease[1].
Key Facts
- Charcot-Marie-Tooth disease axonal type 2U's instance of is recorded as rare disease[2].
- Charcot-Marie-Tooth disease axonal type 2U's instance of is recorded as class of disease[3].
- Charcot-Marie-Tooth disease axonal type 2U's subclass of is recorded as Charcot-Marie-Tooth disease type 2[4].
- Charcot-Marie-Tooth disease axonal type 2U's subclass of is recorded as autosomal dominant disease[5].
- Charcot-Marie-Tooth disease axonal type 2U's OMIM ID is recorded as 616280[6].
- Charcot-Marie-Tooth disease axonal type 2U's Disease Ontology ID is recorded as DOID:0110173[7].
- Charcot-Marie-Tooth disease axonal type 2U's Orphanet ID is recorded as 397735[8].
- Charcot-Marie-Tooth disease axonal type 2U's health specialty is recorded as neurology[9].
- Charcot-Marie-Tooth disease axonal type 2U's genetic association is recorded as MARS1[10].
- Charcot-Marie-Tooth disease axonal type 2U's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0110173[11].
- Charcot-Marie-Tooth disease axonal type 2U's exact match is recorded as http://identifiers.org/doid/DOID:0110173[12].
- Charcot-Marie-Tooth disease axonal type 2U's UMLS CUI is recorded as C4084821[13].
- Charcot-Marie-Tooth disease axonal type 2U's ICD-10-CM is recorded as G60.0[14].
- Charcot-Marie-Tooth disease axonal type 2U's on focus list of Wikimedia project is recorded as WikiProject Medicine[15].
- Charcot-Marie-Tooth disease axonal type 2U's Mondo ID is recorded as MONDO_0014566[16].
- Charcot-Marie-Tooth disease axonal type 2U's UniProt disease ID is recorded as DI-04362[17].