Preferred Name |
Cerebral amyloid angiopathy, ITM2B-related 1 |
|
Synonyms |
CAA-ITM2B1 |
|
Definitions |
(CAA-ITM2B1) - A disorder characterized by amyloid deposition in the walls of cerebral blood vessels and neurodegeneration in the central nervous system. Cerebral amyloid angiopathy, non-neuritic and perivascular plaques and neurofibrillary tangles are the predominant pathological lesions. Clinical features include progressive mental deterioration, spasticity and muscular rigidity. |
|
ID |
http://identifiers.org/omim/176500 |
|
altLabel |
CAA-ITM2B1 |
|
definition |
(CAA-ITM2B1) - A disorder characterized by amyloid deposition in the walls of cerebral blood vessels and neurodegeneration in the central nervous system. Cerebral amyloid angiopathy, non-neuritic and perivascular plaques and neurofibrillary tangles are the predominant pathological lesions. Clinical features include progressive mental deterioration, spasticity and muscular rigidity. |
|
id |
OMIM:176500 |
|
notation |
OMIM:176500 |
|
prefLabel |
Cerebral amyloid angiopathy, ITM2B-related 1 |
|
subClassOf |
Delete | Mapping To | Ontology | Source |
---|---|---|---|
http://identifiers.org/omim/176500 | REXO | SAME_URI | |
http://identifiers.org/omim/176500 | RETO | SAME_URI | |
http://purl.bioontology.org/ontology/OMIM/176500 | OMIM | LOOM | |
http://identifiers.org/omim/176500 | REXO | LOOM | |
http://identifiers.org/omim/176500 | RETO | LOOM | |
http://purl.obolibrary.org/obo/OMIM_176500 | CCO | LOOM |