loading...| Preferred Name |
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA |
|
| Synonyms |
SIPPLE SYNDROME MEN2A PHEOCHROMOCYTOMA AND AMYLOID-PRODUCING MEDULLARY THYROID CARCINOMA PTC SYNDROME THYROID CARCINOMA, FAMILIAL MEDULLARY |
|
| ID |
http://purl.bioontology.org/ontology/OMIM/171400 |
|
| altLabel |
SIPPLE SYNDROME MEN2A PHEOCHROMOCYTOMA AND AMYLOID-PRODUCING MEDULLARY THYROID CARCINOMA PTC SYNDROME THYROID CARCINOMA, FAMILIAL MEDULLARY |
|
| cui |
C0025268 C1833921 |
|
| Gene Locus |
10q11.2 |
|
| Gene Symbol |
MEN2A RET HSCR1 |
|
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU016248 http://purl.bioontology.org/ontology/OMIM/MTHU016247 http://purl.bioontology.org/ontology/OMIM/MTHU036868 http://purl.bioontology.org/ontology/OMIM/MTHU003463 http://purl.bioontology.org/ontology/OMIM/MTHU016145 http://purl.bioontology.org/ontology/OMIM/MTHU015027 http://purl.bioontology.org/ontology/OMIM/MTHU016249 http://purl.bioontology.org/ontology/OMIM/MTHU041429 http://purl.bioontology.org/ontology/OMIM/MTHU002068 http://purl.bioontology.org/ontology/OMIM/MTHU016244 |
|
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
|
| notation |
171400 |
|
| OMIM Entry Type |
3 |
|
| OMIM MimType Value |
pound |
|
| prefLabel |
MULTIPLE ENDOCRINE NEOPLASIA, TYPE IIA |
|
| Scope Statement |
Caused by mutation in the RET protoncogene (RET, 164761.0001) [MOLECULAR BASIS] |
|
| tui |
T191 |