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loading...| Preferred Name |
MEDULLOBLASTOMA |
| Synonyms |
MDB |
| ID |
http://purl.bioontology.org/ontology/OMIM/155255 |
| altLabel |
MDB MEDULLOBLASTOMA PREDISPOSITION SYNDROME |
| cui |
C5774316 C0025149 |
| Gene Locus |
1q24.2 |
| Gene Symbol |
GPR161 |
| Has manifestation |
http://purl.bioontology.org/ontology/OMIM/MTHU053477 |
| MIMTYPEMEANING |
Phenotype description, molecular basis known. |
| notation |
155255 |
| OMIM Entry Type |
3 |
| OMIM MimType Value |
pound |
| prefLabel |
MEDULLOBLASTOMA |
| Scope Statement |
Caused by somatic mutation in the catenin beta 1 gene (CTNNB1, 116806.0007) [MOLECULAR BASIS] Caused by mutation in the BRCA2 gene (BRCA2, 600185.0027) [MOLECULAR BASIS] Incomplete penetrance [MISCELLANEOUS] Caused by somatic mutation in the patched 2 gene (PTCH2, 603673.0001) [MOLECULAR BASIS] Caused by mutation in the SUFU negative regulator of hedgehog signaling gene (SUFU, 607035.0005) [MOLECULAR BASIS] |
| tui |
T191 T047 |
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