Search Ontology:
Human Disease
Charcot-Marie-Tooth disease axonal type 2L
- Term ID
- DOID:0110174
- Synonyms
-
- autosomal dominant axonal Charcot-Marie-Tooth disease type 2L
- autosomal dominant Charcot-Marie-Tooth disease type 2L
- Charcot-Marie-Tooth neuropathy axonal type 2L
- CMT2L
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the HSPB8 gene. https://www.ncbi.nlm.nih.gov/pubmed/15565283
- References
-
- ICD10CM:G60.0
- MIM:608673
- ORDO:99945
- Ontology
- Human Disease ( DOID:0110174 )
- is a type of
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Genes Involved
Zebrafish Models