Statements (14)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:gene
|
| gptkbp:associatedWith |
gptkb:AKT3_gene
gptkb:PIK3CA_gene gptkb:PIK3R2_gene |
| gptkbp:fullName |
gptkb:megalencephaly-polymicrogyria-polydactyly-hydrocephalus_syndrome
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:OMIM |
603387
|
| gptkbp:symptom |
hydrocephalus
megalencephaly polydactyly polymicrogyria |
| gptkbp:bfsParent |
gptkb:MPPH_syndrome
|
| gptkbp:bfsLayer |
8
|
| https://www.w3.org/2000/01/rdf-schema#label |
MPPH
|