Wilms tumor 1 - CISMeF

Preferred Label : Wilms tumor 1;

Symbol : WT1;

CISMeF acronym : WT1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : NEPHROBLASTOMA;

Inheritance : Autosomal dominant; Somatic mutation;

Molecular basis : Caused by mutation in the WT1 gene (WT1, 607102.0010); Caused by mutation in the BRCA2 gene (BRCA2, 600185.0027);

Neoplasia : Nephroblastoma;

Prefixed ID : #194070;

Détails

Origin ID

194070;

UMLS CUI

C0027708;

Automatic exact mappings (from CISMeF team)
- Kidney Wilms Tumor [NCIt concept]
- Nephroblastoma [ICD-11 More detail]
- Nephroblastoma [HPO term]
- Nephroblastoma [MedDRA Preferred Term]
- Nephroblastoma [TUV Concept]
- Nephroblastoma [TUV Term]
- Nephroblastoma [ORDO Disease]
- Nephroblastoma (disorder) [SNOMED CT concept]
- Nephroblastoma (morphologic abnormality) [SNOMED CT concept]
- WT1 Gene [NCIt concept]
- WT1 gene [LOINC component]
- WT1 transcription factor [HGNC gene]
- WT1 transcription factor [ORDO Gene]
- Wilms Tumor [NCIt concept]
- Wilms Tumor Protein [NCIt concept]
- Wilms tumor [Radlex concept]
- Wilms tumor [MedDRA LLT]
- hereditary Wilms' tumor [DO Concept]
- nephroblastoma [DO Concept]
- nephroblastoma, nos [SNOMED Notion]
- wilms tumor [MedlinePlus Topic]
- wilms tumor [MeSH Descriptor]
- wilms tumor [MeSH concept]
Broader ORDO disease(s)
- Nephroblastoma [ORDO Disease]
DO Cross reference
- nephroblastoma [DO Concept]
Genes related to phenotype
- Brca2 dna repair-associated protein [OMIM gene]
- Glypican 3 [OMIM gene]
- Wt1 transcription factor [OMIM gene]
HPO term(s)
- Autosomal dominant inheritance [HPO term]
- Heterogeneous [HPO term]
- Nephroblastoma [HPO term]
- Somatic mutation [HPO term]
ORDO concept(s)
- Nephroblastoma [ORDO Disease]
See also inter- (CISMeF)
- WT1 transcription factor [ORDO Gene]
Semantic type(s)
- Neoplastic Process [UMLS semantic type]
UMLS correspondences (same concept)
- Kidney Wilms Tumor [NCIt concept]
- Nephroblastoma [MedDRA Preferred Term]
- Nephroblastoma [ORDO Disease]
- Nephroblastoma [HPO term]
- Nephroblastoma [TUV Concept]
- Nephroblastoma [TUV Term]
- Nephroblastoma (disorder) [SNOMED CT concept]
- Nephroblastoma (morphologic abnormality) [SNOMED CT concept]
- Nephroblastoma, NOS [ICD-O code]
- Wilms Tumor [NCIt concept]
- Wilms tumor [MedDRA LLT]
- Wilms tumor [Radlex concept]
- Wilms tumour [MedDRA LLT]
- Wilms' tumor [MedDRA LLT]
- nephroblastoma [DO Concept]
- nephroblastoma [Disease (Nov.)]
- nephroblastoma, nos [SNOMED Notion]
- wilms tumor [MedlinePlus Topic]
- wilms tumor [MeSH Descriptor]
- wilms tumor [MeSH concept]
Validated automatic mappings to NTBT
- nephroblastoma [Disease (Nov.)]

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