Human Disease Ontology / 人类疾病本体

Last uploaded: September 7, 2023
Preferred Name

Alzheimer's disease 4

Synonyms

AD4

Definitions

An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42.

ID

http://purl.obolibrary.org/obo/DOID_0110040

database_cross_reference

OMIM:606889

definition

An Alzheimer's disease that has_material_basis_in a mutation in the presenilin-2 gene (PSEN2) on chromosome 1q42.

has exact synonym

AD4

Alzheimer disease 4

Alzheimer's disease 4, early onset

Alzheimer disease, familial4

has material basis in

http://purl.obolibrary.org/obo/GENO_0000147

has_obo_namespace

disease_ontology

id

DOID:0110040

label

Alzheimer's disease 4

notation

DOID:0110040

prefLabel

Alzheimer's disease 4

subClassOf

http://purl.obolibrary.org/obo/DOID_0050736

http://purl.obolibrary.org/obo/DOID_10652

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http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C123413 National Cancer Institute Thesaurus / 美国国家癌症研究所词典 LOOM