| Metadata | |
|---|---|
| ID | DOID:10016 |
| Name | multiple endocrine neoplasia type 2B |
| Definition | A multiple endocrine neoplasia characterized by medullary thyroid carcinoma, pheochromocytoma, multiple mucosal neuromas and intestinal ganglioneuromas, and often a marfanoid habitus and other skeletal abnormalities. https://www.ncbi.nlm.nih.gov/pubmed/15965261, http://ghr.nlm.nih.gov/condition/multiple-endocrine-neoplasia, http://www.merckmanuals.com/professional/endocrine_and_metabolic_disorders/multiple_endocrine_neoplasia_men_syndromes/multiple_endocrine_neoplasia_type_2b_men_2b.html, http://en.wikipedia.org/wiki/Multiple_endocrine_neoplasia_type_2b, https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1244/viewAbstract |
| Xrefs |
SNOMEDCT_US_2023_03_01:61530001 |
| Subsets |
DO_FlyBase_slim DO_rare_slim NCIthesaurus |
| Synonyms |
MEN type IIB [EXACT] MEN2B [EXACT] mucosal neuroma syndrome [EXACT] Multiple endocrine neoplasia, type 3 [EXACT] Wagenmann-Froboese syndrome [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance |