X-linked myopathy with excessive autophagy

Go to external page http://purl.obolibrary.org/obo/MONDO_0010684


X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings. [ Orphanet:25980 ]

This is just here as a test because I lose it

Term information

database cross reference
  • DOID:0050760 (MONDO:obsoleteEquivalent)
  • MESH:C536522 (MONDO:equivalentTo)
  • OMIM:310440 (Orphanet:25980)
  • UMLS:C2931230 (Orphanet:25980)
  • UMLS:C1839615 (Orphanet:25980)
  • GARD:0003892 (MONDO:equivalentTo)
  • ICD10:G71.8 (Orphanet:25980)
  • Orphanet:25980 (OMIM:310440)
  • SCTID:719815005 (MONDO:equivalentTo)
Subsets

gard_rare, ordo_disease

abbreviation
XMEA [ Orphanet:25980 https://omim.org/entry/310440 DOID:0050760 ]

definition

X-linked myopathy with excessive autophagy is a childhood-onset X-linked myopathy characterised by slow progression of muscle weakness and unique histopathological findings.

exactMatch

http://linkedlifedata.com/resource/umls/id/C1839615

http://identifiers.org/snomedct/719815005

http://www.orpha.net/ORDO/Orphanet_25980

http://purl.obolibrary.org/obo/DOID_0050760

http://identifiers.org/omim/310440

http://identifiers.org/mesh/C536522

http://linkedlifedata.com/resource/umls/id/C2931230

excluded from QC check

http://purl.obolibrary.org/obo/mondo/sparql/single-child-tags.sparql

has exact synonym

XMEA

vacuolar myopathy

has related synonym

myopathy, X-linked, with excessive autophagy

MEAX

id

MONDO:0010684

seeAlso

https://rarediseases.info.nih.gov/diseases/3892/x-linked-myopathy-with-excessive-autophagy