JSON

hereditary motor and sensory neuropathy, Okinawa type

Go to external page http://purl.obolibrary.org/obo/MONDO_0011468

Hereditary motor and sensory neuropathy, Okinawa type is a rare, genetic, axonal hereditary motor and sensory neuropathy characterized by the adult-onset of slowly progressive, symmetric, proximal dominant muscle weakness and atrophy, painful muscle cramps, fasciculations and distal sensory impairment, mostly (but not exclusively) in individuals (and their descendents) from the Okinawa region in Japan. Absent deep tendon reflexes, elevated creatine kinase levels and autosomal dominant inheritance are also characteristic. [ Orphanet:90117 ]

Synonyms: hereditary motor and sensory neuropathy, proximal type HMSNP

This is just here as a test because I lose it

Term information

database cross reference
  • Orphanet:90117 (OMIM:604484)
  • MESH:C535717 (Orphanet:90117/e)
  • MEDGEN:346886 (MONDO:equivalentTo)
  • UMLS:C1858338 (MONDO:equivalentTo)
  • OMIM:604484 (Orphanet:90117/e)
  • GARD:10131 (MONDO:GARD)
Subsets

ordo_disorder, gard_rare, otar, rare, nord_rare, orphanet_rare

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/6877

exactMatch

http://linkedlifedata.com/resource/umls/id/C1858338

http://www.orpha.net/ORDO/Orphanet_90117

https://omim.org/entry/604484

http://identifiers.org/mesh/C535717

http://identifiers.org/medgen/346886

has related synonym

neuropathy, hereditary motor and sensory, Okinawa type

HMSNO

hereditary motor and sensory neuropathy, proximal type, formerly

id

MONDO:0011468