Search Ontology:
Human Disease
Charcot-Marie-Tooth disease axonal type 2U
- Term ID
- DOID:0110173
- Synonyms
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- autosomal dominant axonal Charcot-Marie-Tooth disease type 2U
- autosomal dominant Charcot-Marie-Tooth disease type 2U
- Charcot-Marie-Tooth neuropathy type 2U
- CMT2U
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the MARS gene on chromosome 12q13. https://www.ncbi.nlm.nih.gov/pubmed/23729695
- References
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- ICD10CM:G60.0
- MIM:616280
- ORDO:397735
- Ontology
- Human Disease ( DOID:0110173 )
- is a type of
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Genes Involved
Zebrafish Models