loading...| Preferred Name |
Charcot-Marie-Tooth disease type 2B1 |
| Synonyms |
autosomal recessive axonal CMT4C1 |
| Definitions |
A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22. |
| ID |
http://purl.obolibrary.org/obo/DOID_0110156 |
| database_cross_reference |
ICD10CM:G60.0 ORDO:98856 OMIM:605588 MESH:C537990 |
| 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. |
| has exact synonym |
autosomal recessive axonal CMT4C1 Charcot-Marie-Tooth disease neuronal type 2B1 autosomal recessive Charcot-Marie-Tooth disease type 2B1 CMT2B1 autosomal recessive axonal Charcot-Marie-Tooth disease type 2B1 Charcot-Marie-Tooth neuropathy type 2B1 |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0110156 |
| in_subset | |
| label |
Charcot-Marie-Tooth disease type 2B1 |
| notation |
DOID:0110156 |
| prefLabel |
Charcot-Marie-Tooth disease type 2B1 |
| subClassOf |