WormMine

WS295

Intermine data mining platform for C. elegans and related nematodes

Disease Ontology : DOID:0070028 APP-related cerebral amyloid angiopathy Disease Ontology
Namespace  disease_ontology Obsolete  false
Description  A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3.
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1 Ontology

Name
Disease Ontology

10 Parents

Identifier Name Description
DOID:4 disease A disease is a disposition (i) to undergo pathological processes that (ii) exists in an organism because of one or more disorders in that organism.
DOID:0014667 disease of metabolism A disease that involving errors in metabolic processes of building or degradation of molecules.
DOID:0050177 monogenic disease A genetic disease that is the result of one or more abnormal alleles and may be dominant, semi-dominant, or recessive.
DOID:630 genetic disease A disease that has_material_basis_in genetic variations in the human genome.
DOID:0050736 autosomal dominant disease An autosomal genetic disease that is characterized by the presence of one disease-associated mutation of a gene which is sufficient to cause the disease.
DOID:0050739 autosomal genetic disease A monogenic disease that has_material_basis_in a mutation in a single gene on one of the non-sex chromosomes.
DOID:655 inherited metabolic disorder A disease of metabolism that is characterized by enzyme deficiency or accumulation of enzymes or toxins which interfere with normal function due to inherited enzyme abnormality.
DOID:9120 amyloidosis A disease of metabolsism that is characterized by extracellular tissue deposition of mis-folded amyloid fibrils built up by twisted protofilaments, deposited in the spaces between the cells of vital organs, causing disruption of organ tissue structure and function. These deposits may result in a wide range of clinical manifestations depending upon their type, location, and the amount of deposition.
DOID:9246 cerebral amyloid angiopathy An amyloidosis where amyloid protein progressively deposits in cerebral blood vessel walls with subsequent degenerative vascular changes that usually result in spontaneous cerebral hemorrhage, ischemic lesions and progressive dementia.
DOID:0070028 APP-related cerebral amyloid angiopathy A cerebral amyloid angiopathy that has_material_basis_in an autosomal dominant mutation of APP on chromosome 21q21.3.

9 Relations

Relationship
Parent Term . Identifier
Child Term . Identifier
is_a DOID:9246 DOID:0070028
is_a DOID:0050736 DOID:0070028
is_a DOID:0050177 DOID:0070028
is_a DOID:9120 DOID:0070028
is_a DOID:0050739 DOID:0070028
is_a DOID:655 DOID:0070028
is_a DOID:4 DOID:0070028
is_a DOID:0014667 DOID:0070028
is_a DOID:630 DOID:0070028

8 Synonyms

Name Type
Amyloidosis, Cerebroarterial, App-Related synonym
Amyloidosis, Hereditary, With Cerebral Hemorrhage, Dutch Variant synonym
Cerebral Amyloid Angiopathy, App-Related, Arctic Variant synonym
Cerebral Amyloid Angiopathy, App-Related, Dutch Variant synonym
Cerebral Amyloid Angiopathy, App-Related, Flemish Variant synonym
Cerebral Amyloid Angiopathy, App-Related, Iowa Variant synonym
Cerebral Amyloid Angiopathy, App-Related, Italian Variant synonym
HCHWAD synonym