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loading...| Preferred Name | Desmoid disease, hereditary | |
| Synonyms |
Fibromatosis, familial infiltrative Desmoid Tumor Caused By Somatic Mutation Familial infiltrative fibromatosis |
|
| ID |
http://purl.bioontology.org/ontology/MESH/C535944 |
|
| altLabel |
Fibromatosis, familial infiltrative Desmoid Tumor Caused By Somatic Mutation Familial infiltrative fibromatosis |
|
| cui |
C1851124 C2675440 |
|
| HM |
D000008 D011125 D018222 |
|
| Inverse of RB |
0 |
|
| Mapped to |
http://purl.bioontology.org/ontology/MESH/D011125 |
|
| MDA |
20100825 |
|
| MeSH Frequency |
30 |
|
| MMR |
20160929 |
|
| notation |
C535944 |
|
| prefLabel |
Desmoid disease, hereditary |
|
| SC |
3 |
|
| Scope Statement |
Benign extraintestinal desmoid tumors (FIBROMATOSIS, ABDOMINAL) that are often associated with familial adenomatous polyposis. They may be caused by hereditary mutations in the APC gene or spontaneuos mutations in the BETA-CATENIN (CTNNB1) gene. OMIM: 135290 |
|
| TERMUI |
T737747 T737748 T737750 T809994 |
|
| TH |
OMIM (2013) ORD (2010) |
|
| tui |
T047 |
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