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loading...| Preferred Name |
Charcot-Marie-Tooth disease type 2B |
| Synonyms |
HMSN IIB |
| Definitions |
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21. |
| ID |
http://purl.obolibrary.org/obo/DOID_0110159 |
| database_cross_reference |
OMIM:600882 GARD:9192 ICD10CM:G60.0 MESH:C537989 ORDO:99936 |
| definition |
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in heterozygous mutation in the RAB7 gene on chromosome 3q21. |
| has exact synonym |
HMSN IIB Charcot-Marie-Tooth neuropathy type 2B CMT2B HMSN2B hereditary motor and sensory nueropathy IIB autosomal dominant Charcot-Marie-Tooth disease type 2B |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0110159 |
| in_subset | |
| label |
Charcot-Marie-Tooth disease type 2B |
| notation |
DOID:0110159 |
| prefLabel |
Charcot-Marie-Tooth disease type 2B |
| subClassOf |