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loading...| Preferred Name |
Charcot-Marie-Tooth disease type 2I |
| Synonyms |
Charcot-Marie-Tooth neuropathy type 2I |
| Definitions |
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. |
| ID |
http://purl.obolibrary.org/obo/DOID_0110158 |
| database_cross_reference |
ICD10CM:G60.0 OMIM:607677 ORDO:99942 MESH:C535416 |
| 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. |
| has exact synonym |
Charcot-Marie-Tooth neuropathy type 2I CMT2I |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0110158 |
| in_subset | |
| label |
Charcot-Marie-Tooth disease type 2I |
| notation |
DOID:0110158 |
| prefLabel |
Charcot-Marie-Tooth disease type 2I |
| subClassOf |