Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy. [ Orphanet : 595 ]
This is just here as a test because I lose it
Term information
database
cross reference
- MESH:D020914 (MONDO:relatedTo)
- NCIT:C84648 (MONDO:relatedTo)
- Orphanet:595 (MONDO:equivalentTo)
- GARD:0000101 (MONDO:equivalentTo)
- DOID:14717 (MONDO:equivalentTo)
- UMLS:C0175709 (Orphanet:595)
- SCTID:82077006 (MONDO:equivalentTo)
- OMIMPS:160150 (MONDO:equivalentTo)
Subsets
gard_rare, disease_grouping, ordo_group_of_disorders
definition
- Centronuclear myopathy (CNM) is an inherited neuromuscular disorder characterized by clinical features of a congenital myopathy and centrally placed nuclei on muscle biopsy.
exactMatch
- https://omim.org/phenotypicSeries/PS160150
- http://linkedlifedata.com/resource/umls/id/C0175709
- http://www.orpha.net/ORDO/Orphanet_595
- http://purl.obolibrary.org/obo/DOID_14717
- http://identifiers.org/snomedct/82077006
excluded subClassOf
- http://purl.obolibrary.org/obo/MONDO_0020169
has exact synonym
- centronuclear myopathy
- myotubular myopathy
- CNM
- myopathy, centronuclear
has related synonym
- myopathy, myotubular
id
- MONDO:0018947
seeAlso
- https://rarediseases.info.nih.gov/diseases/101/centronuclear-myopathy
should conform to
- http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml
Term relations
Subclass of: