Saethre-Chotzen syndrome
Information
- Disease name
- Saethre-Chotzen syndrome
- Disease ID
- DOID:14768
- Description
- "An acrocephalosyndactylia that has_material_basis_in a genetic mutation in the TWIST1 gene which results_in premature fusion located_in skull." [url:http\://children.webmd.com/saethre-chotzen-syndrome, url:http\://en.wikipedia.org/wiki/Saethre-Chotzen_syndrome, url:http\://ghr.nlm.nih.gov/condition/saethre-chotzen-syndrome, url:http\://www.healthline.com/galecontent/saethre-chotzen-syndrome, url:https\://www.faces-cranio.org/saethre-chotzen]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| TWIST1 | 7 | 19,115,468 | 19,117,636 | 6 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT04463316 | Recruiting | GROWing Up With Rare GENEtic Syndromes | October 1, 2018 | January 1, 2030 |
- Disase is a (Disease Ontology)
- DOID:12960
- Cross Reference ID (Disease Ontology)
- GARD:7598
- Cross Reference ID (Disease Ontology)
- MESH:D000168
- Cross Reference ID (Disease Ontology)
- MIM:101400
- Cross Reference ID (Disease Ontology)
- MIM:180750
- Cross Reference ID (Disease Ontology)
- NCI:C75034
- Cross Reference ID (Disease Ontology)
- ORDO:794
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:390726000
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0175699
- Disase Synonym (Disease Ontology)
- acrocephalosyndactyly type III
- OrphaNumber from OrphaNet (Orphanet)
- 794
- MedGen concept unique identifier (MedGen Concept name)
- C0175699
- MedGen unique identifier (MedGen Concept name)
- 64221