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loading...| Preferred Name | Porencephaly [Disease/Finding] | |
| Synonyms |
Encephaloclastic Porencephaly Porencephaly |
|
| ID |
http://purl.bioontology.org/ontology/NDFRT/N0000191044 |
|
| altLabel |
Encephaloclastic Porencephaly Porencephaly |
|
| cui |
C0302892 |
|
| MESH DEFINITION |
Cortical malformations characterized by white matter-lined cleft or cyst associated with ISCHEMIA and hemorrhagic insults. Symptoms include delayed growth and development, HYPOTONIA; SEIZURES; SPASTIC HEMIPLEGIA and MACROCEPHALY; MICROCEPHALY; or HYDROCEPHALUS. Mutations in the genes encoding COLLAGEN TYPE IV are associated with familial types. |
|
| MESH DUI |
D065708 |
|
| MeSH name |
Porencephaly |
|
| MESH UI |
M0590449 |
|
| NDFRT kind |
DISEASE_KIND |
|
| notation |
N0000191044 |
|
| NUI |
N0000191044 |
|
| prefLabel |
Porencephaly [Disease/Finding] |
|
| tui |
T019 |
|
| subClassOf |
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