Supranuclear palsy, progressive, 2

Preferred Label : Supranuclear palsy, progressive, 2;

Symbol : PSNP2;

CISMeF acronym : PSNP2;

Type : Phenotype or locus, molecular basis unknown;

Description : For a phenotypic description and a discussion of genetic heterogeneity of progressive supranuclear palsy (PSP), see PSNP1 (601104).;

Inheritance : Autosomal dominant;

Prefixed ID : %609454;

Details

Origin ID

609454;

UMLS CUI

C1836148;

Broader ORDO disease(s)
- Progressive supranuclear palsy [ORDO Disease]
Currated CISMeF NLP mapping
- supranuclear palsy, progressive, 2 [MeSH concept]
- supranuclear palsy, progressive, 2 [MeSH Supplementary Concept]
DO Cross reference
- progressive supranuclear palsy [DO Concept]
HPO term(s)
- Akinesia [HPO term]
- Apathy [HPO term]
- Autosomal dominant inheritance [HPO term]
- Axial dystonia [HPO term]
- Blurred vision [HPO term]
- Bradykinesia [HPO term]
- Diplopia [HPO term]
- Dysarthria [HPO term]
- Dysphagia [HPO term]
- Eyelid apraxia [HPO term]
- Falls [HPO term]
- Forgetfulness [HPO term]
- Frontal release signs [HPO term]
- Frontolimbic dementia [HPO term]
- Gait imbalance [HPO term]
- Gliosis [HPO term]
- Granulovacuolar degeneration [HPO term]
- Heterogeneous [HPO term]
- Irritability [HPO term]
- Memory impairment [HPO term]
- Neurofibrillary tangles [HPO term]
- Neuronal loss [HPO term]
- Neuronal loss in basal ganglia [HPO term]
- Neuronal loss in central nervous system [HPO term]
- Parkinsonism [HPO term]
- Photophobia [HPO term]
- Poor mobility [HPO term]
- Postural tremor [HPO term]
- Retrocollis [HPO term]
- Rigidity [HPO term]
- Supranuclear gaze palsy [HPO term]
ORDO concept(s)
- Classic progressive supranuclear palsy syndrome [ORDO Disease]
- Progressive supranuclear palsy [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- supranuclear palsy, progressive, 2 [MeSH Supplementary Concept]
- supranuclear palsy, progressive, 2 [MeSH concept]

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