loading...| Preferred Name |
cerebral malformation |
|
| Synonyms |
brain malformation |
|
| Definitions |
Disorders of the developing brain that constitute a wide variety of complex malformations that account for a significant fraction of childhood onset epilepsy, intellectual disability, and autism. Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also. |
|
| ID |
http://www.ebi.ac.uk/efo/EFO_0700045 |
|
| comment |
Term added in response to Mondo restructuring. To be considered for replacement or obsoletion in EFO also. |
|
| database_cross_reference |
Orphanet:199633 |
|
| definition |
Disorders of the developing brain that constitute a wide variety of complex malformations that account for a significant fraction of childhood onset epilepsy, intellectual disability, and autism. |
|
| has_exact_synonym |
brain malformation |
|
| label |
cerebral malformation |
|
| preferred label |
cerebral malformation |
|
| prefixIRI |
efo1:EFO_0700045 |
|
| prefLabel |
cerebral malformation |
|
| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0016054 | DOVES | LOOM | |
| http://purl.bioontology.org/ontology/OMIM/MTHU073559 | OMIM | LOOM | |
| http://www.limics.org/hrdo/rdfns#pat_id_18412 | HRDO | LOOM |