Denys-drash syndrome

Preferred Label : Denys-drash syndrome;

Symbol : DDS;

CISMeF acronym : DDS;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Wilms tumor and pseudo- or true hermaphroditism; Drash syndrome; Nephropathy, wilms tumor, and genital anomalies;

Inheritance : Autosomal dominant; Somatic mutation;

Molecular basis : Caused by mutation in the Wilms tumor 1 gene (WT1, 607102.0003).;

Neoplasia : Nephroblastoma (Wilms tumor); Gonadoblastoma;

Prefixed ID : #194080;

Details

Origin ID

194080;

UMLS CUI

C0950121;

Automatic exact mappings (from CISMeF team)
- Death diagnosis (contextual qualifier) (qualifier value) [SNOMED CT concept]
- Denys-Drash syndrome [ICD-11 More detail]
- Doctor of Dental Surgery [NCIt concept]
- Doctor of Divinity [NCIt concept]
- Drug Delivery System [NCIt concept]
- dapsone [SNOMED Notion]
Currated CISMeF NLP mapping
- Denys Drash syndrome [Disease (Nov.)]
- Denys-Drash Syndrome [NCIt concept]
- Denys-Drash syndrome [DO Concept]
- Denys-Drash syndrome [MeSH concept]
- Denys-Drash syndrome [ORDO Disease]
- Denys-Drash syndrome [MedDRA Preferred Term]
- Drash syndrome (disorder) [SNOMED CT concept]
- denys-drash syndrome [MeSH Descriptor]
DO Cross reference
- Denys-Drash syndrome [DO Concept]
False automatic mappings
- Dapsone [ICD-11 Extension code]
- Dapsone [LOINC component]
- Dapsone [NCIt concept]
- Dapsone (substance) [SNOMED CT concept]
- Product containing dapsone (medicinal product) [SNOMED CT concept]
Genes related to phenotype
- Wt1 transcription factor [OMIM gene]
HPO term(s)
- Ambiguous genitalia, female [HPO term]
- Ambiguous genitalia, male [HPO term]
- Autosomal dominant inheritance [HPO term]
- Congenital diaphragmatic hernia [HPO term]
- Diffuse mesangial sclerosis [HPO term]
- Focal segmental glomerulosclerosis [HPO term]
- Gonadal dysgenesis [HPO term]
- Gonadal tissue inappropriate for external genitalia or chromosomal sex [HPO term]
- Hypertension [HPO term]
- Male pseudohermaphroditism [HPO term]
- Nephroblastoma [HPO term]
- Nephropathy [HPO term]
- Nephrotic syndrome [HPO term]
- Ovarian gonadoblastoma [HPO term]
- Somatic mutation [HPO term]
- Stage 5 chronic kidney disease [HPO term]
- True hermaphroditism [HPO term]
- chronic/endstage renal failure [HPO term]
- diffuse mesangial sclerosis glomerulopathy [HPO term]
ORDO concept(s)
- Denys-Drash syndrome [ORDO Disease]
Semantic type(s)
- Disease or Syndrome [UMLS semantic type]
UMLS correspondences (same concept)
- Denys Drash syndrome [Disease (Nov.)]
- Denys-Drash Syndrome [NCIt concept]
- Denys-Drash syndrome [MedDRA Preferred Term]
- Denys-Drash syndrome [ORDO Disease]
- Denys-Drash syndrome [MeSH concept]
- Denys-Drash syndrome [DO Concept]
- Drash syndrome (disorder) [SNOMED CT concept]
- denys-drash syndrome [MeSH Descriptor]

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