WormBase Tree Display for DO_term: DOID:0110156
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| DOID:0110156 | Name | Charcot-Marie-Tooth disease type 2B1 | |||
|---|---|---|---|---|---|
| Status | Valid | ||||
| Definition | A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. | ||||
| Synonym | Exact | CMT2B1 | |||
| Charcot-Marie-Tooth disease neuronal type 2B1 | |||||
| Charcot-Marie-Tooth neuropathy type 2B1 | |||||
| autosomal recessive Charcot-Marie-Tooth disease type 2B1 | |||||
| autosomal recessive axonal CMT4C1 | |||||
| autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1 | |||||
| Parent | Is_a | DOID:0050539 | |||
| DOID:0050737 | |||||
| DB_info | Database | OMIM | disease | 605588 | |
| Attribute_of | Gene_by_orthology | WBGene00003052 |
