Preferred Name |
Charcot-Marie-Tooth disease type 4J |
Synonyms |
CMT4J |
Definitions |
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21. |
ID |
http://purl.obolibrary.org/obo/DOID_0110184 |
database_cross_reference |
OMIM:611228 ICD10CM:G60.0 ORDO:139515 |
definition |
A Charcot-Marie-Tooth disease type 4 that has_material_basis_in compound heterozygous mutations in the FIG4 gene on chromosome 6q21. |
has exact synonym |
CMT4J autosomal recessive Charcot-Marie-Tooth disease type 4J |
has material basis in | |
has_obo_namespace |
disease_ontology |
id |
DOID:0110184 |
in_subset | |
label |
Charcot-Marie-Tooth disease type 4J |
notation |
DOID:0110184 |
prefLabel |
Charcot-Marie-Tooth disease type 4J |
subClassOf |