Multiple sclerosis, susceptibility to

Preferred Label : Multiple sclerosis, susceptibility to;

Symbol : MS;

CISMeF acronym : MS; MS1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Disseminated sclerosis;

Included titles and symbols : Multiple sclerosis, susceptibility to, 1; MS1;

Inheritance : Multifactorial;

Molecular basis : Susceptibility conferred by mutations in the MHC class II transactivator gene (MHC2TA, 600005.0007); Susceptibility conferred by mutations in the protein tyrosine phosphatase, receptor type, c polypeptide gene (PTPRC, 151460.0001);

Laboratory abnormalities : Increased CSF immunoglobulin levels; Oligoclonal bands in CSF; Myelin basic protein in CSF;

Prefixed ID : #126200;

Details

Origin ID

126200;

UMLS CUI

C1868685;

Automatic exact mappings (from CISMeF team)
- Disseminated sclerosis [MedDRA LLT]
- GDC Menopause Status Terminology [NCIt concept]
- INRG Stage MS [NCIt concept]
- MTR wt Allele [NCIt concept]
- Mass Spectrometer [NCIt concept]
- Mass Spectrometry [NCIt concept]
- Methionine Synthase [NCIt concept]
- Metric System [NCIt concept]
- Microbiology Susceptibility Domain [NCIt concept]
- Millisecond [NCIt concept]
- Mississippi [NCIt concept]
- Mitral valve stenosis [ICD-11 Category]
- marginal sulcus [UBERON concept]
- mass spectrometry [IUPAC Term]
- mass spectrometry [MeSH concept]
- mass spectrometry [MeSH Descriptor]
- multiple sclerosis [HGNC gene]
- mycoplasma synoviae [MeSH concept]
- mycoplasma synoviae [SNOMED Notion]
- mycoplasma synoviae [MeSH Descriptor]
- upper extremity [MeSH Descriptor]
Currated CISMeF NLP mapping
- Master of Science [NCIt concept]
- Millisecond (qualifier value) [SNOMED CT concept]
- Multiple Sclerosis [NCIt concept]
- Multiple sclerosis [PASCAL descriptor]
- Multiple sclerosis [ICD-10 category]
- Multiple sclerosis [ICD-11 Category]
- Multiple sclerosis [HPMULTI term]
- Multiple sclerosis [MedDRA Preferred Term]
- Multiple sclerosis [ORDO Disease]
- Multiple sclerosis [ICD-10 category (who)]
- Multiple sclerosis [ICD-9 code]
- Multiple sclerosis (disorder) [SNOMED CT concept]
- SIL1 wt Allele [NCIt concept]
- Sclerosis multiple [MedDRA LLT]
- multiple sclerosis [Radlex concept]
- multiple sclerosis [Disease (Nov.)]
- multiple sclerosis [DO Concept]
- multiple sclerosis [ICPC-2 Rubric]
- multiple sclerosis [MeSH Descriptor]
- multiple sclerosis [MedlinePlus Topic]
- multiple sclerosis [MeSH concept]
- multiple sclerosis [DRC Consultation result]
- multiple sclerosis, nos [SNOMED Notion]
False automatic mappings
- Montserrat [NCIt concept]
Genes related to phenotype
- Major histocompatibility complex, class II, dq beta-1 [OMIM gene]
- Major histocompatibility complex, class II, dr beta-1 [OMIM gene]
HPO term(s)
- CNS demyelination [HPO term]
- Depression [HPO term]
- Diplopia [HPO term]
- Emotional lability [HPO term]
- Incoordination [HPO term]
- Multifactorial inheritance [HPO term]
- Muscle weakness [HPO term]
- Paresthesia [HPO term]
- Spasticity [HPO term]
- Urinary hesitancy [HPO term]
- Urinary incontinence [HPO term]
- Weakness [HPO term]
ORDO concept(s)
- Multiple sclerosis [ORDO Disease]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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