Mondo Disease Ontology / Mondo疾病本体

Last uploaded: August 7, 2023
Preferred Name

stiff-person syndrome

Synonyms

stiff man syndrome

Moersch-Woltman syndrome

progressive encephalomyelitis with rigidity

SPS

stiff-person syndrome

Stiff Person syndrome

Morsch Woltman syndrome

SMS

Stiff man syndrome

STIFF-PERSON syndrome

Stiff-Man syndrome

Stiff-trunk syndrome

Stiff person syndrome and related disorders

Stiff-man syndrome

Definitions

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.

ID

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

closeMatch

http://identifiers.org/meddra/10042044

database_cross_reference

SCTID:5217008

Orphanet:3198

NCIT:C85170

OMIM:184850

MESH:D016750

DOID:13366

MedDRA:10042044

GARD:0005023

UMLS:C0085292

EFO:0007498

ICD9:333.91

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://purl.obolibrary.org/obo/DOID_13366

http://identifiers.org/mesh/D016750

http://identifiers.org/snomedct/5217008

http://linkedlifedata.com/resource/umls/id/C0085292

http://purl.obolibrary.org/obo/Orphanet_3198

http://purl.obolibrary.org/obo/NCIT_C85170

has_exact_synonym

stiff man syndrome

Moersch-Woltman syndrome

stiff-person syndrome

Stiff Person syndrome

Stiff man syndrome

Stiff-man syndrome

has_related_synonym

progressive encephalomyelitis with rigidity

SPS

Morsch Woltman syndrome

SMS

STIFF-PERSON syndrome

Stiff-Man syndrome

Stiff-trunk syndrome

Stiff person syndrome and related disorders

IAO_0000233

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

id

MONDO:0008491

in_subset

http://purl.obolibrary.org/obo/mondo#ordo_disease

label

stiff-person syndrome

notation

MONDO:0008491

prefLabel

stiff-person syndrome

treeView

http://purl.obolibrary.org/obo/MONDO_0002254

http://purl.obolibrary.org/obo/MONDO_0005071

excluded subClassOf

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

subClassOf

http://purl.obolibrary.org/obo/MONDO_0002254

http://purl.obolibrary.org/obo/MONDO_0005071

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http://purl.bioontology.org/ontology/OMIM/184850 Online Mendelian Inheritance in Man / 在线人类孟德尔遗传数据库 LOOM
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C85170 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM
http://purl.obolibrary.org/obo/DOID_13366 Human Disease Ontology / 人类疾病本体 LOOM
http://purl.bioontology.org/ontology/MESH/D016750 Medical Subject Headings / 医学主题词表 LOOM
http://www.ebi.ac.uk/efo/EFO_0007498 Experimental Factor Ontology / 实验性因素本体 LOOM