Search Ontology:
Human Disease
Charcot-Marie-Tooth disease type 1D
- Term ID
- DOID:0110150
- Synonyms
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- Charcot-Marie-Tooth neuropathy type 1D
- CMT1D
- hereditary motor and sensory neuropathy 1D
- HMSN ID
- HMSN1D
- Definition
- A Charcot-Marie-Tooth disease type 1 that has_material_basis_in mutation in the early growth response gene-2 (EGR2). https://www.ncbi.nlm.nih.gov/pubmed/9537424
- References
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- ICD10CM:G60.0
- MESH:C537985
- MIM:607678
- ORDO:101084
- Ontology
- Human Disease ( DOID:0110150 )
- is a type of
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Genes Involved
Zebrafish Models