Statements (51)
| Predicate | Object |
|---|---|
| gptkbp:instance_of |
gptkb:physicist
|
| gptkbp:associated_with |
gptkb:neurofibromatosis_type_1
gptkb:healthcare_organization gptkb:historical_event gptkb:familial_adenomatous_polyposis gptkb:hereditary_breast_and_ovarian_cancer_syndrome gptkb:neurofibromatosis_type_2 gptkb:PTEN_gene gptkb:Li-Fraumeni_syndrome schizophrenia seizures anxiety disorders cardiovascular issues learning disabilities lipomas behavioral issues infertility endometrial cancer skin lesions insulin resistance vascular malformations cognitive impairment short stature neurodevelopmental disorders autism spectrum disorder social difficulties hypotonia osteosarcoma dental abnormalities hyperactivity tuberous sclerosis complex delayed puberty nevi dyslipidemia |
| gptkbp:descendant |
autosomal dominant inheritance
|
| gptkbp:first_described_by |
gptkb:1997
|
| https://www.w3.org/2000/01/rdf-schema#label |
PTEN-related disorders
|
| gptkbp:includes |
gptkb:Cowden_syndrome
gptkb:Bannayan-Riley-Ruvalcaba_syndrome gptkb:Proteus_syndrome |
| gptkbp:is_characterized_by |
hamartomas
increased cancer risk |
| gptkbp:managed_by |
surveillance for tumors
|
| gptkbp:social_responsibility |
genetic testing
|
| gptkbp:symptoms |
intellectual disability
macrocephaly gastrointestinal polyps thyroid abnormalities facial lesions |
| gptkbp:bfsParent |
gptkb:Bannayan-Riley-Ruvalcaba_syndrome
|
| gptkbp:bfsLayer |
6
|