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Online Mendelian Inheritance in Man
Last uploaded:
March 22, 2026
| Id | http://purl.bioontology.org/ontology/OMIM/609322
http://purl.bioontology.org/ontology/OMIM/609322
|
|---|---|
| Preferred Name | RHABDOID TUMOR PREDISPOSITION SYNDROME 1 |
| Synonyms |
AT/RT
RHABDOID TUMOR
RDT
TERATOID TUMOR, ATYPICAL
MALIGNANT RHABDOID TUMOR, SOMATIC
BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL
RTPS1
|
| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| altLabel |
AT/RT
RHABDOID TUMOR
RDT
TERATOID TUMOR, ATYPICAL
MALIGNANT RHABDOID TUMOR, SOMATIC
BRAIN TUMOR, POSTERIOR FOSSA, OF INFANCY, FAMILIAL
RTPS1
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|
|---|---|
| prefLabel | RHABDOID TUMOR PREDISPOSITION SYNDROME 1
|
| Gene Symbol |
RDT
MRD15
RTPS1
INI1
SMARCB1
SNF5
SWNTS1
CSS3
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|
| Scope Statement | Early age of onset, usually less than 3 years [MISCELLANEOUS]
Aggressive malignancies [MISCELLANEOUS]
Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily B, member 1 gene (SMARCB1, 601607.0001) [MOLECULAR BASIS]
Increased risk of developing multiple primary cancers [MISCELLANEOUS]
|
| type | |
| Has manifestation | |
| tui |
T047
T191
|
| Gene Locus | 22q11
|
| MIMTYPEMEANING | Phenotype description, molecular basis known.
|
| notation | 609322
|
| Semantic type UMLS property | |
| Has inheritance type | |
| cui |
C1836327
C0206743
C2750405
C1836326
C1266184
|
| OMIM Entry Type | 3
|
| OMIM MimType Value | pound
|
| Delete | Subject | Author | Type | Created |
|---|---|---|---|---|
| No notes to display |