Waisman Syndrome

Preferred Label : Waisman Syndrome;

NCIt synonyms : WSMN;

NCIt definition : An X-linked recessive condition caused by mutation(s) in the RAB39B gene, encoding Ras-related protein Rab-39B. It is characterized by clinical features of early-onset parkinsonism and intellectual disability.;

Details

Origin ID

C184991;

UMLS CUI

C0796195;

Currated CISMeF NLP mapping
- Early onset parkinsonism and intellectual disability syndrome (disorder) [SNOMED CT concept]
- Early-onset parkinsonism - intellectual deficit [ICD-11 Subcategory]
- Early-onset parkinsonism-intellectual disability syndrome [ORDO Disease]
- Parkinsonism, early onset with mental retardation [MeSH concept]
- Waisman syndrome [DO Concept]
- Waisman syndrome [OMIM Phenotype]
- parkinsonism, early onset with mental retardation [MeSH Supplementary Concept]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Early onset parkinsonism and intellectual disability syndrome (disorder) [SNOMED CT concept]
- Parkinsonism, early onset with mental retardation [MeSH concept]
- Waisman syndrome [OMIM Phenotype]
- parkinsonism, early onset with mental retardation [MeSH Supplementary Concept]
concept_is_in_subset
- Cellosaurus Disease Terminology [NCIt concept]
- Cellosaurus Terminology [NCIt concept]
disease_mapped_to_gene
- RAB39B Gene [NCIt concept]

Keyword's position in hierarchy(ies) :

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