early-onset autosomal dominant Alzheimer disease
|
MONDO_0015140 |
[Early-onset autosomal dominant Alzheimer disease (EOAD) is a progressive dementia with reduction of cognitive functions. EOAD presents the same phenotype as sporadic Alzheimer disease (AD) but has an early age of onset, usually before 60 years old.] |
female
|
PATO_0000383 |
[A biological sex quality inhering in an individual or a population that only produces gametes that can be fertilised by male gametes.] |
molecular entity
|
CHEBI_23367 |
[Any constitutionally or isotopically distinct atom, molecule, ion, ion pair, radical, radical ion, complex, conformer etc., identifiable as a separately distinguishable entity.] |
chemical entity
|
CHEBI_24431 |
[A chemical entity is a physical entity of interest in chemistry including molecular entities, parts thereof, and chemical substances.] |
Guanine Nucleotides
|
OMIT_0007329 |
|
SET
|
OGG_3000006418 |
|
MAP2K4
|
OGG_3000006416 |
|
localization
|
GO_0051179 |
[Any process in which a cell, a substance, or a cellular entity, such as a protein complex or organelle, is transported, tethered to or otherwise maintained in a specific location. In the case of substances, localization may also be achieved via selective degradation.] |
MT-RNR2 Gene
|
NCIT_C131258 |
[This gene plays a role in both mitochondrial protein translation and apoptosis regulation.] |
RNA gene of Homo sapiens
|
OGG_2110009606 |
[A gene of Homo sapiens that has a RNA gene disposition] |
Guanosine Diphosphate
|
OMIT_0007332 |
|
physical object quality
|
PATO_0001241 |
[A quality which inheres in a continuant.] |
quality
|
BFO_0000019 |
|
purine ribonucleotide
|
CHEBI_26400 |
[Any ribonucleotide that has a purine nucleobase.] |
purine nucleotide
|
CHEBI_26395 |
[Any nucleotide that has a purine nucleobase.] |
ribonucleotide
|
CHEBI_26561 |
|
Guanosine Triphosphate
|
OMIT_0007339 |
|
purines
|
CHEBI_26401 |
[A class of imidazopyrimidines that consists of purine and its substituted derivatives.] |
imidazopyrimidine
|
CHEBI_35875 |
|
diagnostic test
|
GENEPIO_0001420 |
|