loading...| 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 | GEXO | SAME_URI | |
| http://identifiers.org/omim/176500 | RETO | SAME_URI | |
| http://purl.bioontology.org/ontology/OMIM/176500 | OMIM | LOOM | |
| http://identifiers.org/omim/176500 | GEXO | LOOM | |
| http://identifiers.org/omim/176500 | RETO | LOOM | |
| http://purl.obolibrary.org/obo/OMIM_176500 | CCO | LOOM |