CHARGE syndrome
Information
- Disease name
- CHARGE syndrome
- Disease ID
- DOID:0050834
- Description
- "A syndrome that is characterized by a pattern of congenital anomalies including choanal atresia and malformations of the heart, inner ear, and retina." [url:http\://en.wikipedia.org/wiki/CHARGE_syndrome, url:http\://ghr.nlm.nih.gov/condition/charge-syndrome, url:http\://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=EN&Expert=138, url:https\://www.rarediseases.org/rare-disease-information/rare-diseases/byID/550/viewAbstract]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| CHD7 | 8 | 60,678,740 | 60,868,028 | 4 |
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 | |
| NCT05764980 | Recruiting | Neurovisual Function in CHARGE Syndrome | March 15, 2021 | January 1, 2024 |
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:29
- Cross Reference ID (Disease Ontology)
- MESH:D058747
- Cross Reference ID (Disease Ontology)
- MIM:214800
- Cross Reference ID (Disease Ontology)
- NCI:C75100
- Cross Reference ID (Disease Ontology)
- ORDO:138
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:47535005
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0265354
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C2936502
- Exact Synonym (Disease Ontology)
- CHARGE association
- OrphaNumber from OrphaNet (Orphanet)
- 138
- MeSH unique ID (MeSH (Medical Subject Headings))
- D058747