Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene. [ NCIT:C123412 ]

This is just here as a test because I lose it

Term information

database cross reference
  • GARD:0009468 (OMIM-shared)
  • NCIT:C123412 (MONDO:equivalentTo)
  • DOID:0110042 (MONDO:equivalentTo)
  • MESH:C536598 (https://github.com/monarch-initiative/mondo/issues/2210)
  • OMIM:607822 (MONDO:equivalentTo)
conformsTo

http://purl.obolibrary.org/obo/mondo/patterns/specific_disease_by_dysfunctional_structure.yaml

definition

Alzheimer's disease with an early onset (starts before the age of 65). It is caused by mutations in the PSEN1 gene.

exactMatch

http://purl.obolibrary.org/obo/NCIT_C123412

https://omim.org/entry/607822

http://purl.obolibrary.org/obo/DOID_0110042

http://identifiers.org/mesh/C536598

has exact synonym

Alzheimer disease 3

AD3

PSEN1 early-onset autosomal dominant Alzheimer disease

Alzheimer disease type 3

familial Alzheimer disease, type 3

early-onset autosomal dominant Alzheimer disease caused by mutation in PSEN1

familial Alzheimer's disease, type 3

Alzheimer disease familial 3

Alzheimer's disease 3

Alzheimer disease 3, early onset

Alzheimer's disease type 3

has related synonym

AD

Alzheimer disease early onset type 3

Alzheimer disease, familial, 3, with spastic paraparesis and apraxia

Alzheimer disease, familial, 3, with spastic paraparesis and unusual plaques

Alzheimer disease 3, early-onset

Alzheimer disease, familial, 3

id

MONDO:0011913