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loading...| Preferred Name |
Charcot-Marie-Tooth disease dominant intermediate B |
| Synonyms |
DI-CMTB |
| Definitions |
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2). |
| ID |
http://purl.obolibrary.org/obo/DOID_0110197 |
| database_cross_reference |
ORDO:100044 ICD10CM:G60.0 MESH:C564703 OMIM:606482 |
| definition |
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in mutation in the gene encoding dynamin-2 (DNM2). |
| has exact synonym |
DI-CMTB CMTDIB Charcot-Marie-Tooth neuropathy dominant intermediate B CMTDI1 |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0110197 |
| in_subset | |
| label |
Charcot-Marie-Tooth disease dominant intermediate B |
| notation |
DOID:0110197 |
| prefLabel |
Charcot-Marie-Tooth disease dominant intermediate B |
| subClassOf |
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| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C564703 | Medical Subject Headings | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/606482 | Online Mendelian Inheritance in Man | LOOM |