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stiff-person syndrome

^ http://purl.obolibrary.org/obo/MONDO_0008491

Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis. [ Orphanet:3198 ]

Term info

database cross reference
  • UMLS:C0085292 (Orphanet:3198/e)
  • MESH:D016750 (MONDO:equivalentTo)
  • MedDRA:10042044 (Orphanet:3198/e)
  • SCTID:5217008 (MONDO:equivalentTo)
  • Orphanet:3198 (OMIM:184850)
  • DOID:13366 (MONDO:equivalentTo)
  • GARD:0005023 (MONDO:equivalentTo)
  • ICD9:333.91 (MONDO:i2s)
  • EFO:0007498 (MONDO:equivalentTo)
  • NCIT:C85170 (MONDO:equivalentTo)
  • OMIM:184850 (Orphanet:3198/e)
Subsets

ordo_disease

abbreviation
SPS [ MONDO:Lexical OMIM:184850 Orphanet:3198 ]

abbreviation
SMS [ Orphanet:3198 ]

IAO 0000233

https://github.com/monarch-initiative/mondo/issues/5723

closeMatch

http://identifiers.org/meddra/10042044

definition

Stiff-man syndrome (SMS) is a rare neurological disorder comprising fluctuating trunk and limb stiffness, painful muscle spasms, task-specific phobia, an exaggerated startle response, and ankylosing deformities such as fixed lumbar hyperlordosis.

exactMatch

https://omim.org/entry/184850, http://identifiers.org/mesh/D016750, http://purl.obolibrary.org/obo/NCIT_C85170, http://identifiers.org/snomedct/5217008, http://linkedlifedata.com/resource/umls/id/C0085292, http://purl.obolibrary.org/obo/DOID_13366, http://purl.obolibrary.org/obo/Orphanet_3198

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0005015

has exact synonym

stiff man syndrome, Stiff-man syndrome, stiff-person syndrome, Moersch-Woltman syndrome, Stiff Person syndrome, Stiff man syndrome

has related synonym

Stiff-trunk syndrome, Stiff person syndrome and related disorders, Morsch Woltman syndrome, STIFF-PERSON syndrome, SPS, SMS, progressive encephalomyelitis with rigidity, Stiff-Man syndrome

id

MONDO:0008491

Term relations