Waardenburg syndrome
Information
- Disease name
- Waardenburg syndrome
- Disease ID
- DOID:9258
- Description
- "A syndrome characterized by varying degrees of deafness, minor defects in structures arising from the neural crest and pigmentation anomalies of the hair, the skin and/or the iris of both eyes." [url:http\://en.wikipedia.org/wiki/Waardenburg_syndrome, url:http\://rarediseases.info.nih.gov/gard/5525/waardenburg-syndrome/resources/1, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/430/viewAbstract]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| PAX3 | 2 | 222,199,888 | 222,298,981 | 24 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02418936 | Unknown status | Development and Clinical Application of Two New Genetic Deafness Gene Diagnostic Kit | January 2015 | December 2017 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:5525
- Cross Reference ID (Disease Ontology)
- MESH:D014849
- Cross Reference ID (Disease Ontology)
- MIM:PS193500
- Cross Reference ID (Disease Ontology)
- NCI:C75008
- Cross Reference ID (Disease Ontology)
- NCI:C85222
- Cross Reference ID (Disease Ontology)
- ORDO:3440
- Cross Reference ID (Disease Ontology)
- ORDO:895
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:1010606009
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:190695000
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:47434006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0079661
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1847800
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C3266898
- Exact Synonym (Disease Ontology)
- van der Hoeve Halbertsona Waardenburg syndrome
- Exact Synonym (Disease Ontology)
- Waardenburg Shah syndrome
- Exact Synonym (Disease Ontology)
- Waardenburg's syndrome
- Disase Synonym (Disease Ontology)
- Waardenburg, types I and/or II
- OMIM Phenotype Series Number (OMIM)
- PS193500
- OrphaNumber from OrphaNet (Orphanet)
- 3440
- MeSH unique ID (MeSH (Medical Subject Headings))
- D014849