loading...| Preferred Name |
Cerebral amyloid angiopathy, ITM2B-related 1 |
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| Synonyms |
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| 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. |
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| ID |
http://purl.obolibrary.org/obo/OMIM_176500 |
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| 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. |
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| has_obo_namespace |
cell_cycle_ontology |
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| id |
OMIM:176500 |
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| label |
Cerebral amyloid angiopathy, ITM2B-related 1 |
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| notation |
OMIM:176500 |
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| prefLabel |
Cerebral amyloid angiopathy, ITM2B-related 1 |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.bioontology.org/ontology/OMIM/176500 | OMIM | LOOM | |
| http://identifiers.org/omim/176500 | REXO | LOOM | |
| http://identifiers.org/omim/176500 | GEXO | LOOM | |
| http://identifiers.org/omim/176500 | RETO | LOOM |