Regulation of Transcription Ontology

Last uploaded: December 4, 2018
Preferred Name

Alzheimer disease
Synonyms

AD

Definitions

(AD) - Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta- APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. - (AD1) - A familial early- onset form of Alzheimer disease. It can be associated with cerebral amyloid angiopathy. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death.

ID

http://identifiers.org/omim/104300

altLabel

AD

definition

(AD) - Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta- APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death. - (AD1) - A familial early- onset form of Alzheimer disease. It can be associated with cerebral amyloid angiopathy. Alzheimer disease is a neurodegenerative disorder characterized by progressive dementia, loss of cognitive abilities, and deposition of fibrillar amyloid proteins as intraneuronal neurofibrillary tangles, extracellular amyloid plaques and vascular amyloid deposits. The major constituent of these plaques is the neurotoxic amyloid-beta-APP 40-42 peptide (s), derived proteolytically from the transmembrane precursor protein APP by sequential secretase processing. The cytotoxic C-terminal fragments (CTFs) and the caspase-cleaved products such as C31 derived from APP, are also implicated in neuronal death.

id

OMIM:104300

notation

OMIM:104300

prefLabel

Alzheimer disease

subClassOf

http://purl.obolibrary.org/obo/OGMS_0000031

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Delete Mapping To Ontology Source
http://identifiers.org/omim/104300 REXO SAME_URI
http://identifiers.org/omim/104300 GEXO SAME_URI
http://purl.obolibrary.org/obo/MONDO_0004975 OBA LOOM
http://purl.obolibrary.org/obo/MONDO_0004975 MONDO LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.574.945.249 RH-MESH LOOM
http://purl.obolibrary.org/obo/HP_0002511 DIAB LOOM
http://purl.obolibrary.org/obo/HP_0002511 HP LOOM
http://purl.obolibrary.org/obo/HP_0002511 UPHENO LOOM
http://purl.obolibrary.org/obo/OMIT_0001963 OMIT LOOM
http://www.radlex.org/RID/RID5137 RADLEX LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#C10.228.140.380.100 RH-MESH LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#D000544 RH-MESH LOOM
http://www.semanticweb.org/ontologies/2012/0/Ontology1325521724189.owl#Alzheimer's_disease CTO-NDD LOOM
http://www.phoc.org.cn/pmo/class/PMO_00038388 PMAPP-PMO LOOM
http://scai.fraunhofer.de/AlzheimerOntology#Subtypes NIO LOOM
http://purl.bioontology.org/ontology/OMIM/MTHU004582 OMIM LOOM
http://vocab.vodan-totafrica.info/vodana-terms/vdiseases/8A20 VODANADISEASES LOOM
http://phenomebrowser.net/ontologies/mesh/mesh.owl#F03.087.400.100 RH-MESH LOOM
http://purl.jp/bio/4/id/200906021199291479 IOBC LOOM
http://identifiers.org/omim/104300 REXO LOOM
http://identifiers.org/omim/104300 GEXO LOOM
http://purl.obolibrary.org/obo/MONDO_0004975 GCBO LOOM
http://purl.obolibrary.org/obo/MONDO_0004975 CCONT LOOM
http://purl.obolibrary.org/obo/MONDO_0004975 EFO LOOM
http://purl.obolibrary.org/obo/MONDO_0004975 BMONT LOOM
http://purl.obolibrary.org/obo/MONDO_0004975 DOVES LOOM
http://purl.bioontology.org/ontology/MESH/D000544 MESH LOOM
rgo:07547 GAMUTS LOOM
http://www.limics.org/hrdo/rdfns#pat_id_19283 HRDO LOOM