Waardenburg syndrome type 1
Information
- Disease name
- Waardenburg syndrome type 1
- Disease ID
- DOID:0110948
- Description
- "A Waardenburg syndrome characterized by autosomal dominant inheritance of congenital deafness, pigmentation anomalies of eyes, hair, and skin,and dystopia canthorum that has_material_basis_in heterozygous mutation in the PAX3 gene on chromosome 2q36." [url:https\://www.ncbi.nlm.nih.gov/pubmed/1347148, url:https\://www.ncbi.nlm.nih.gov/pubmed/20127975]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT03655223 | Enrolling by invitation | Early Check: Expanded Screening in Newborns | October 15, 2018 | December 31, 2025 |
- Disase is a (Disease Ontology)
- DOID:9258
- Cross Reference ID (Disease Ontology)
- MESH:D014849
- Cross Reference ID (Disease Ontology)
- MIM:193500
- Cross Reference ID (Disease Ontology)
- NCI:C75008
- Cross Reference ID (Disease Ontology)
- ORDO:894
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:1010606009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1847800
- Exact Synonym (Disease Ontology)
- Waardenburg syndrome type I
- Exact Synonym (Disease Ontology)
- WS1
- OrphaNumber from OrphaNet (Orphanet)
- 894
- MedGen concept unique identifier (MedGen Concept name)
- C1847800
- MedGen unique identifier (MedGen Concept name)
- 376211