Jump to:
loading...| Preferred Name |
nemaline myopathy 2 |
| Synonyms |
NEM2 |
| Definitions |
A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. |
| ID |
http://purl.obolibrary.org/obo/DOID_0110928 |
| database_cross_reference |
OMIM:256030 MESH:C538349 |
| definition |
A nemaline myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the NEB gene on chromosome 2q23. |
| has exact synonym |
NEM2 nemaline myopathy 2, autosomal recessive congenital myopathy 2 |
| has material basis in | |
| has_obo_namespace |
disease_ontology |
| id |
DOID:0110928 |
| label |
nemaline myopathy 2 |
| notation |
DOID:0110928 |
| prefLabel |
nemaline myopathy 2 |
| subClassOf |
Create New Mapping