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loading...| Preferred Name |
Charcot-Marie-Tooth disease type 2D |
| Synonyms |
Charcot-Marie-Tooth disease neuronal type 2D |
| Definitions |
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene. |
| ID |
http://purl.obolibrary.org/obo/DOID_0110164 |
| database_cross_reference |
ICD10CM:G60.0 OMIM:601472 ORDO:99938 |
| definition |
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in mutation in the GARS1 gene. |
| has exact synonym |
Charcot-Marie-Tooth disease neuronal type 2D autosomal dominant Charcot-Marie-Tooth disease type 2D Charcot-Marie-Tooth neuropathy type 2D CMT2D |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0110164 |
| in_subset | |
| label |
Charcot-Marie-Tooth disease type 2D |
| notation |
DOID:0110164 |
| prefLabel |
Charcot-Marie-Tooth disease type 2D |
| subClassOf |
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