JSON

proximal myopathy with extrapyramidal signs

^ 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 ]

Term info

database cross reference
  • Orphanet:401768 (OMIM:615673)
  • UMLS:C3810285 (OMIM:615673)
  • GARD:0012978 (MONDO:equivalentTo)
  • OMIM:615673 (Orphanet:401768/e)
  • DOID:0111335 (MONDO:equivalentTo)
Subsets

ordo_disease

abbreviation
MPXPS [ MONDO:Lexical OMIM:615673 ]

definition

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.

exactMatch

http://linkedlifedata.com/resource/umls/id/C3810285, http://purl.obolibrary.org/obo/DOID_0111335, http://purl.obolibrary.org/obo/Orphanet_401768, https://omim.org/entry/615673

has related synonym

MPXPS, myopathy with extrapyramidal signs

id

MONDO:0014300