Rhabdoid tumor predisposition syndrome 2

Preferred Label : Rhabdoid tumor predisposition syndrome 2;

Symbol : RTPS2;

CISMeF acronym : RTPS2;

Type : Phenotype, molecular basis known;

Inheritance : Autosomal dominant;

Molecular basis : Caused by mutation in the SWI/SNF-related, matrix-associated, actin-dependent regulator of chromatin, subfamily A, member 4 gene (SMARCA4, 603254.0001);

Neoplasia : Rhabdoid tumors, malignant; Small cell carcinoma of the ovary, hypercalcemic type;

Prefixed ID : #613325;

Details

Origin ID

613325;

UMLS CUI

C2750074;

Automatic exact mappings (from CISMeF team)
- Familial rhabdoid tumor [ORDO Disease]
- SMARCA4 wt Allele [NCIt concept]
Currated CISMeF NLP mapping
- Rhabdoid Tumor Predisposition Syndrome 2 [NCIt concept]
- rhabdoid tumor predisposition syndrome 2 [MeSH concept]
- rhabdoid tumor predisposition syndrome 2 [MeSH Supplementary Concept]
Genes related to phenotype
- Swi/snf-related, matrix-associated, actin-dependent regulator of chromatin, subfamily a, member 4 [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Carcinoma [HPO term]
- Neoplasm of the central nervous system [HPO term]
ORDO concept(s)
- Familial rhabdoid tumor [ORDO Disease]
- Rhabdoid tumor [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Rhabdoid Tumor Predisposition Syndrome 2 [NCIt concept]
- rhabdoid tumor predisposition syndrome 2 [MeSH Supplementary Concept]
- rhabdoid tumor predisposition syndrome 2 [MeSH concept]

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