An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy. [ Orphanet : 596 ]
This is just here as a test because I lose it
Term information
database
cross reference
- NCIT:C118781 (MONDO:equivalentTo)
- GARD:0011925 (MONDO:equivalentTo)
- DOID:0111225 (MONDO:equivalentTo)
- UMLS:C0410203 (Orphanet:596/e)
- Orphanet:596 (OMIM:310400)
- OMIM:310400 (Orphanet:596/e)
- SCTID:46804001 (MONDO:equivalentTo)
Subsets
ordo_disease
abbreviation
XLMTM
[
Orphanet
:
596
]
abbreviation
MTM
[
NCIT
:
C118781
]
abbreviation
XLCNM
[
Orphanet
:
596
]
conformsTo
- http://purl.obolibrary.org/obo/mondo/patterns/x_linked.yaml
definition
- An inherited neuromuscular disorder defined by numerous centrally placed nuclei on muscle biopsy and clinical features of a congenital myopathy.
exactMatch
- http://purl.obolibrary.org/obo/DOID_0111225
- https://omim.org/entry/310400
- http://purl.obolibrary.org/obo/NCIT_C118781
- http://www.orpha.net/ORDO/Orphanet_596
- http://linkedlifedata.com/resource/umls/id/C0410203
- http://identifiers.org/snomedct/46804001
excluded subClassOf
- http://purl.obolibrary.org/obo/MONDO_0020119
- http://purl.obolibrary.org/obo/MONDO_0002921
- http://purl.obolibrary.org/obo/MONDO_0016154
has exact synonym
- XLMTM
- X-linked myotubular myopathy
- centronuclear myopathy, X-linked
- MTM
- myotubular myopathy, X-linked, X-linked recessive
- XLCNM
- X-linked centronuclear myopathy
has related synonym
- myopathy, centronuclear, X-linked
- myotubular myopathy, X-linked
- myotubular myopathy 1
- CNMX
id
- MONDO:0010683
term tracker item
- https://github.com/monarch-initiative/mondo/issues/4521
Term relations
Equivalent to:
Subclass of: