Statements (24)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
genetic disorder
|
| gptkbp:alsoKnownAs |
gptkb:Multiple_Endocrine_Neoplasia_type_2B
|
| gptkbp:associatedWith |
intestinal ganglioneuromatosis
|
| gptkbp:characterizedBy |
gptkb:pheochromocytoma
gptkb:medullary_thyroid_carcinoma marfanoid habitus mucosal neuromas |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:John_H._Sipple
|
| https://www.w3.org/2000/01/rdf-schema#label |
MEN2B
|
| gptkbp:ICD-10_code |
E31.2
|
| gptkbp:inheritance |
autosomal dominant
|
| gptkbp:mutationAssociatedWith |
gptkb:RET_gene
|
| gptkbp:OMIM |
162300
|
| gptkbp:onset |
childhood or adolescence
|
| gptkbp:prevalence |
rare
|
| gptkbp:relatedTo |
gptkb:MEN2A
gptkb:MEN1 |
| gptkbp:riskFactor |
early-onset medullary thyroid cancer
|
| gptkbp:treatment |
prophylactic thyroidectomy
surgical removal of pheochromocytoma |
| gptkbp:bfsParent |
gptkb:familial_medullary_thyroid_carcinoma
gptkb:multiple_endocrine_neoplasia_type_2 |
| gptkbp:bfsLayer |
6
|