Search Ontology:
Human Disease
Charcot-Marie-Tooth disease type 2I
- Term ID
- DOID:0110158
- Synonyms
-
- Charcot-Marie-Tooth neuropathy type 2I
- CMT2I
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. https://www.ncbi.nlm.nih.gov/pubmed/10071056
- References
-
- ICD10CM:G60.0
- MESH:C535416
- MIM:607677
- ORDO:99942
- Ontology
- Human Disease ( DOID:0110158 )
- is a type of
-
Other Pages
Genes Involved
Zebrafish Models