loading...| Preferred Name |
Multiple Endocrine Neoplasia Type 2b |
| Synonyms |
Wagenmann Froboese Syndrome |
| Definitions |
Similar to MEN2A, it is also caused by mutations of the MEN2 gene, also known as the RET proto-oncogene. Its clinical symptoms include medullary carcinoma (CARCINOMA, MEDULLARY) of THYROID GLAND and PHEOCHROMOCYTOMA of ADRENAL MEDULLA (50%). Unlike MEN2a, MEN2b does not involve PARATHYROID NEOPLASMS. It can be distinguished from MEN2A by its neural abnormalities such as mucosal NEUROMAS on EYELIDS; LIP; and TONGUE, and ganglioneuromatosis of GASTROINTESTINAL TRACT leading to MEGACOLON. It is an autosomal dominant inherited disease. |
| ID |
http://purl.bioontology.org/ontology/MESH/D018814 |
| altLabel |
Wagenmann Froboese Syndrome Wagenmann-Froboese Syndrome Neuromata, Mucosal, With Endocrine Tumors Multiple Endocrine Neoplasms Type 2b Mucosal Neuroma Syndromes MEN IIb MEN 3 Neuroma Syndrome, Mucosal MEA IIb Neoplasia, Multiple Endocrine Type 2b MEN 2b Multiple Endocrine Neoplasia, Type 2b MEA 2b MEN III Mucosal Neuroma Syndrome MEN2b Multiple Endocrine Neoplasia, Type IIb Syndrome, Wagenmann-Froboese Neoplasms, Multiple Endocrine Type 2b |
| AN |
coordinate IM with specific endocrine/neoplasm pre-coordinates (IM) + specific histological type (IM) if pertinent |
| AQL |
BL BS CF CH CI CL CN CO DG DH DI DT EC EH EM EN EP ET GE HI IM ME MI MO NU PA PC PP PS PX RH RT SC SU TH UL UR VE VI |
| cui |
C0025269 |
| DC |
1 |
| definition |
Similar to MEN2A, it is also caused by mutations of the MEN2 gene, also known as the RET proto-oncogene. Its clinical symptoms include medullary carcinoma (CARCINOMA, MEDULLARY) of THYROID GLAND and PHEOCHROMOCYTOMA of ADRENAL MEDULLA (50%). Unlike MEN2a, MEN2b does not involve PARATHYROID NEOPLASMS. It can be distinguished from MEN2A by its neural abnormalities such as mucosal NEUROMAS on EYELIDS; LIP; and TONGUE, and ganglioneuromatosis of GASTROINTESTINAL TRACT leading to MEGACOLON. It is an autosomal dominant inherited disease. |
| DX |
19950101 |
| HN |
1995; MEA III & MEN III see NEOPLASMS, MULTIPLE ENDOCRINE 1983-1994 |
| Inverse of AQ |
http://purl.bioontology.org/ontology/MESH/Q000401 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000737 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000556 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000648 http://purl.bioontology.org/ontology/MESH/Q000523 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000652 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000098 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000097 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000209 |
| Inverse of RO | |
| Inverse of SIB | |
| Machine permutation |
1995; MEA III & MEN III see NEOPLASMS, MULTIPLE ENDOCRINE 1983-1994 |
| Mapped from | |
| MDA |
19940523 |
| MMR |
20120703 |
| MN |
C16.320.700.630.510 C04.700.630.510 C04.651.600.510 C19.344.400.510 C04.588.322.400.510 |
| notation |
D018814 |
| prefLabel |
Multiple Endocrine Neoplasia Type 2b |
| TERMUI |
T056067 T811748 T056068 T751066 T056065 T056069 T056070 T056076 T056072 T825014 T782999 T056074 T056066 T056073 T056071 T056075 |
| TH |
NLM (2010) NLM (2012) ORD (2010) NLM (1995) OMIM (2013) |
| tui |
T191 |
| subClassOf |