Alzheimer disease 9, susceptibility to

Preferred Label : Alzheimer disease 9, susceptibility to;

Symbol : AD9;

CISMeF acronym : AD9;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Alzheimer disease 9, late-onset;

Description : For a phenotypic description and a discussion of genetic heterogeneity of Alzheimer disease (AD), see 104300.;

Inheritance : Autosomal dominant;

Molecular basis : Susceptibility conferred by mutation in the ATP-binding cassette, subfamily A, member 7 gene (ABCA7, 605414.0001);

Prefixed ID : #608907;

Details

Origin ID

608907;

UMLS CUI

C4282179;

Automatic exact mappings (from CISMeF team)
- ABCA7 wt Allele [NCIt concept]
- Alzheimer's disease 9 [DO Concept]
Currated CISMeF NLP mapping
- alzheimer disease 9 [MeSH concept]
- alzheimer disease 9 [MeSH Supplementary Concept]
DO Cross reference
- Alzheimer's disease 9 [DO Concept]
Genes related to phenotype
- Atp-binding cassette, subfamily a, member 7 [OMIM gene]
HPO term(s)
- Abnormality of extrapyramidal motor function [HPO term]
- Alzheimer disease [HPO term]
- Autosomal dominant inheritance [HPO term]
- Cerebral cortical atrophy [HPO term]
- Depression [HPO term]
- Disinhibition [HPO term]
- Hippocampal atrophy [HPO term]
- Late onset [HPO term]
- Memory impairment [HPO term]
- Neurofibrillary tangles [HPO term]
- Senile plaques [HPO term]
Semantic type(s)
- Finding [UMLS semantic type]

Keyword's position in hierarchy(ies) :

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