loading...| Preferred Name |
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 |
|
| Synonyms |
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 CADASIL1 dementia, hereditary multi-infarct type cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 CADASIL 1 autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 hereditary multi-infarct dementia CADASIL type 1 CADASIL syndrome cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy CADASIL familial vascular leukoencephalopathy CASIL cerebral arteriopathy with subcortical infarcts and leukoencephalopathy |
|
| Definitions |
A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0000914 |
|
| has_broad_synonym |
cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy |
|
| has_exact_synonym |
cerebral arteriopathy with subcortical infarcts and leukoencephalopathy 1 CADASIL1 dementia, hereditary multi-infarct type cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 CADASIL 1 autosomal dominant cerebral arteriopathy with subcortical infarcts and leukoencephalopathy type 1 hereditary multi-infarct dementia CADASIL type 1 CADASIL syndrome |
|
| has_related_synonym |
CADASIL familial vascular leukoencephalopathy CASIL cerebral arteriopathy with subcortical infarcts and leukoencephalopathy |
|
| IAO_0000233 | ||
| label |
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 |
|
| prefixIRI |
MONDO:0000914 |
|
| prefLabel |
cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 1 |
|
| textual definition |
A CADASIL characterized by migraine, strokes, and white matter lesions that has material basis in heterozygous mutation in the NOTCH3 gene on chromosome 19p13. |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0000914 | EFO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0000914 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0000914 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0000914 | MONDO | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/125310 | OMIM | LOOM |