Search Ontology:
Human Disease
Charcot-Marie-Tooth disease type 1A
- Term ID
- DOID:0110148
- Synonyms
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- autosomal dominant Charcot-Marie-Tooth disease with focally folded myelin sheaths type 1A
- Charcot-Marie-Tooth neuropathy type 1A
- CMT1A
- hereditary motor and sensory neuropathy 1A
- HMSN1A
- microduplication 17p12
- Definition
- A Charcot-Marie-Tooth disease type 1 that has_material_basis_in duplication of, or mutation in, the gene encoding peripheral myelin protein-22 (PMP22). (2)
- References
-
- GARD:1245
- ICD10CM:G60.0
- MIM:118220
- ORDO:101081
- Ontology
- Human Disease ( DOID:0110148 )
- is a type of
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Genes Involved
Zebrafish Models