Frasier syndrome
Information
- Disease name
- Frasier syndrome
- Disease ID
- DOID:0050438
- Description
- "A syndrome that is characterized by gonadal dysgenesis, streak gonads, progressive focal segmental glomerulonephropathy and the development of urogenital cancers that is the result of mutation in the WT1 gene." [url:https\://ghr.nlm.nih.gov/condition/frasier-syndrome]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT01252901 | Completed | Registry for Patients With Wilms' Tumor Suppressor Gene 1 (WT1) Mutation Associated Diseases | October 2010 | June 2014 | |
| NCT01793168 | Recruiting | Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford | July 2010 | December 2100 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:2375
- Cross Reference ID (Disease Ontology)
- MESH:D052159
- Cross Reference ID (Disease Ontology)
- MIM:136680
- Cross Reference ID (Disease Ontology)
- NCI:C122805
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:445431000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0950122
- OrphaNumber from OrphaNet (Orphanet)
- 347
- MeSH unique ID (MeSH (Medical Subject Headings))
- D052159