Search Ontology:
Human Disease
Charcot-Marie-Tooth disease axonal type 2P
- Term ID
- DOID:0110169
- Synonyms
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- Charcot-Marie-Tooth disease type 2P
- Charcot-Marie-Tooth neuropathy type 2P
- CMT2P
- Definition
- A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous or heterozygous mutation in the LRSAM1 gene on chromosome 9q33. https://www.ncbi.nlm.nih.gov/pubmed/20865121
- References
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- GARD:12435
- ICD10CM:G60.0
- MIM:614436
- ORDO:300319
- Ontology
- Human Disease ( DOID:0110169 )
- is a type of
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Genes Involved
Zebrafish Models