Statements (27)
| Predicate | Object |
|---|---|
| gptkbp:instanceOf |
gptkb:multiple_endocrine_neoplasia
genetic disorder |
| gptkbp:alsoKnownAs |
gptkb:MEN2B
gptkb:Multiple_Endocrine_Neoplasia_type_2B |
| gptkbp:characterizedBy |
gptkb:pheochromocytoma
gptkb:medullary_thyroid_carcinoma marfanoid habitus mucosal neuromas intestinal ganglioneuromatosis |
| gptkbp:diagnosedBy |
genetic testing
|
| gptkbp:firstDescribed |
gptkb:John_H._Sipple
|
| https://www.w3.org/2000/01/rdf-schema#label |
MEN 2B syndrome
|
| 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:MEN_2A_syndrome
|
| gptkbp:riskFactor |
early-onset medullary thyroid cancer
|
| gptkbp:symptom |
bumpy tongue
musculoskeletal abnormalities thickened lips |
| gptkbp:treatment |
prophylactic thyroidectomy
surgical removal of pheochromocytoma |
| gptkbp:bfsParent |
gptkb:thyroid_C-cell_tumors
|
| gptkbp:bfsLayer |
7
|