loading...| Preferred Name | Multiple Endocrine Neoplasia Type 2b | |
| Synonyms |
Neoplasia, Multiple Endocrine Type 2b Multiple Endocrine Neoplasms Type 2b MEN 3 Neuroma Syndrome, Mucosal MEN 2b MEN IIb Wagenmann-Froboese Syndrome Multiple Endocrine Neoplasia, Type 2b MEN2b MEA 2b MEN III Neuromata, Mucosal, With Endocrine Tumors MEA IIb Neoplasms, Multiple Endocrine Type 2b Syndrome, Wagenmann-Froboese Multiple Endocrine Neoplasia, Type IIb Wagenmann Froboese Syndrome Mucosal Neuroma Syndrome Mucosal Neuroma Syndromes |
|
| 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 |
Neoplasia, Multiple Endocrine Type 2b Multiple Endocrine Neoplasms Type 2b MEN 3 Neuroma Syndrome, Mucosal MEN 2b MEN IIb Wagenmann-Froboese Syndrome Multiple Endocrine Neoplasia, Type 2b MEN2b MEA 2b MEN III Neuromata, Mucosal, With Endocrine Tumors MEA IIb Neoplasms, Multiple Endocrine Type 2b Syndrome, Wagenmann-Froboese Multiple Endocrine Neoplasia, Type IIb Wagenmann Froboese Syndrome Mucosal Neuroma Syndrome Mucosal Neuroma Syndromes |
|
| 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/Q000097 http://purl.bioontology.org/ontology/MESH/Q000098 http://purl.bioontology.org/ontology/MESH/Q000178 http://purl.bioontology.org/ontology/MESH/Q000175 http://purl.bioontology.org/ontology/MESH/Q000628 http://purl.bioontology.org/ontology/MESH/Q000648 http://purl.bioontology.org/ontology/MESH/Q000276 http://purl.bioontology.org/ontology/MESH/Q000134 http://purl.bioontology.org/ontology/MESH/Q000139 http://purl.bioontology.org/ontology/MESH/Q000266 http://purl.bioontology.org/ontology/MESH/Q000378 http://purl.bioontology.org/ontology/MESH/Q000517 http://purl.bioontology.org/ontology/MESH/Q000662 http://purl.bioontology.org/ontology/MESH/Q000469 http://purl.bioontology.org/ontology/MESH/Q000151 http://purl.bioontology.org/ontology/MESH/Q000150 http://purl.bioontology.org/ontology/MESH/Q000821 http://purl.bioontology.org/ontology/MESH/Q000191 http://purl.bioontology.org/ontology/MESH/Q000196 http://purl.bioontology.org/ontology/MESH/Q000473 http://purl.bioontology.org/ontology/MESH/Q000145 http://purl.bioontology.org/ontology/MESH/Q000737 http://purl.bioontology.org/ontology/MESH/Q000382 http://purl.bioontology.org/ontology/MESH/Q000451 http://purl.bioontology.org/ontology/MESH/Q000453 http://purl.bioontology.org/ontology/MESH/Q000534 http://purl.bioontology.org/ontology/MESH/Q000532 http://purl.bioontology.org/ontology/MESH/Q000503 http://purl.bioontology.org/ontology/MESH/Q000188 http://purl.bioontology.org/ontology/MESH/Q000235 http://purl.bioontology.org/ontology/MESH/Q000201 http://purl.bioontology.org/ontology/MESH/Q000209 http://purl.bioontology.org/ontology/MESH/Q000208 http://purl.bioontology.org/ontology/MESH/Q000601 http://purl.bioontology.org/ontology/MESH/Q000000981 http://purl.bioontology.org/ontology/MESH/Q000556 http://purl.bioontology.org/ontology/MESH/Q000652 |
|
| Inverse of RO | ||
| Machine permutation |
1995; MEA III & MEN III see NEOPLASMS, MULTIPLE ENDOCRINE 1983-1994 |
|
| Mapped from | ||
| MDA |
19940523 |
|
| MMR |
20120703 |
|
| MN |
C19.344.400.510 C16.320.700.630.510 C04.588.322.400.510 C04.700.630.510 C04.651.600.510 |
|
| notation |
D018814 |
|
| prefLabel |
Multiple Endocrine Neoplasia Type 2b |
|
| TERMUI |
T056076 T056070 T825014 T056073 T751066 T056075 T056066 T056067 T056069 T056074 T811748 T782999 T056072 T056068 T056065 T056071 |
|
| TH |
OMIM (2013) NLM (1995) NLM (2012) NLM (2010) ORD (2010) |
|
| tui |
T191 |
|
| subClassOf |