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proximal myopathy with extrapyramidal signs

Go to external page http://purl.obolibrary.org/obo/MONDO_0014300

Proximal myopathy with extrapyramidal signs is a rare, hereditary non-dystrophic myopathy characterized by proximal muscle weakness, delayed motor development, learning difficulties, and progressive extrapyramidal motor signs including chorea, dystonia and tremor. Variable additional features have been reported - ataxia, microcephaly, ophthalmoplegia, ptosis, and optic atrophy. [ Orphanet:401768 ]

This is just here as a test because I lose it

Term information

database cross reference
  • UMLS:C3810285 (MONDO:equivalentTo)
  • GARD:12978 (MONDO:GARD)
  • MEDGEN:816615 (MONDO:equivalentTo)
  • DOID:0111335 (MONDO:equivalentTo)
  • Orphanet:401768 (OMIM:615673)
  • OMIM:615673 (Orphanet:401768/e)
Subsets

gard_rare, ordo_disorder, otar, rare, nord_rare, orphanet_rare

exactMatch

http://www.orpha.net/ORDO/Orphanet_401768

http://linkedlifedata.com/resource/umls/id/C3810285

http://identifiers.org/medgen/816615

http://purl.obolibrary.org/obo/DOID_0111335

https://omim.org/entry/615673

has related synonym

MPXPS

myopathy with extrapyramidal signs

id

MONDO:0014300