loading...| Preferred Name |
Charcot-Marie-Tooth disease type 2J |
| Synonyms |
Charcot-Marie-Tooth neuropathy type 2J |
| Definitions |
A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. |
| ID |
http://purl.obolibrary.org/obo/DOID_0110157 |
| database_cross_reference |
ORDO:99943 ICD10CM:G60.0 OMIM:607736 |
| definition |
A Charcot-Marie-Tooth disease type 2 characterized by hearing loss and pupillary abnormalities and has_material_basis_in heterozygous mutation in the myelin protein-zero gene (MPZ) on chromosome 1q23. |
| has exact synonym |
Charcot-Marie-Tooth neuropathy type 2J CMT2J Charcot-Marie-Tooth disease type 2 with hearing loss and pupillary abnormalities |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0110157 |
| in_subset | |
| label |
Charcot-Marie-Tooth disease type 2J |
| notation |
DOID:0110157 |
| prefLabel |
Charcot-Marie-Tooth disease type 2J |
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/MESH/C535417 | Medical Subject Headings | LOOM |