Preferred Label : Alzheimer disease 3;
Symbol : AD3;
CISMeF acronym : AD;
Type : Phenotype, molecular basis known;
Alternative titles and symbols : Alzheimer disease 3, early-onset; Alzheimer disease, familial, 3;
Included titles and symbols : Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques; Alzheimer disease, familial, 3, with spastic paraparesis and apraxia;
Inheritance : Autosomal dominant;
Molecular basis : Caused by mutation in the presenilin-1 gene (PSEN1, 104311.0001);
Prefixed ID : #607822;
Origin ID : 607822;
UMLS CUI : C1843013;
Automatic exact mappings (from CISMeF team)
Currated CISMeF NLP mapping
DO Cross reference
False automatic mappings
Genes related to phenotype
HPO term(s)
ORDO concept(s)
See also inter- (CISMeF)
Semantic type(s)
UMLS correspondences (same concept)