Waisman syndrome

Preferred Label : Waisman syndrome;

Symbol : WSMN;

CISMeF acronym : BGMR; WSMN; WSN;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : BGMR; WSN; Parkinsonism, early-onset, with mental retardation; Basal ganglion disorder with mental retardation;

Inheritance : X-linked recessive;

Molecular basis : Caused by mutation in the RAS-associated protein RAB39B gene (RAB39B, 300774.0003);

Prefixed ID : #311510;

Détails

Origin ID

311510;

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 [NCIt concept]
- Waisman syndrome [DO Concept]
- parkinsonism, early onset with mental retardation [MeSH Supplementary Concept]
DO Cross reference
- Waisman syndrome [DO Concept]
Genes related to phenotype
- Rab39b, member ras oncogene family [OMIM gene]
HPO term(s)
- Bradykinesia [HPO term]
- Cogwheel rigidity [HPO term]
- Dementia [HPO term]
- Dysarthria [HPO term]
- Dyskinesia [HPO term]
- Frontal bossing [HPO term]
- Global developmental delay [HPO term]
- Intellectual disability [HPO term]
- Lewy bodies [HPO term]
- Macrocephaly [HPO term]
- Megalencephaly [HPO term]
- Parkinsonism [HPO term]
- Poor speech [HPO term]
- Resting tremor [HPO term]
- Seizure [HPO term]
- Shuffling gait [HPO term]
- X-linked inheritance [HPO term]
- X-linked recessive inheritance [HPO term]
Not associated HPO term(s)
- Basal ganglia calcification [HPO term]
ORDO concept(s)
- Early-onset parkinsonism-intellectual disability syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Early onset parkinsonism and intellectual disability syndrome (disorder) [SNOMED CT concept]
- Early-onset parkinsonism-intellectual disability syndrome [ORDO Disease]
- Parkinsonism, early onset with mental retardation [MeSH concept]
- Waisman Syndrome [NCIt concept]
- parkinsonism, early onset with mental retardation [MeSH Supplementary Concept]

Position du mot-clé dans l'(les) arborescence(s) :

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