leukodystrophy
Information
- Disease name
- leukodystrophy
- Disease ID
- DOID:10579
- Description
- "A cerebral degeneration characterized by dysfunction of the white matter of the brain." [url:http\://en.wikipedia.org/wiki/Leukodystrophy]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| IBA57 | 1 | 228,165,804 | 228,182,257 | 8 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT02699190 | Active, not recruiting | LeukoSEQ: Whole Genome Sequencing as a First-Line Diagnostic Tool for Leukodystrophies | January 6, 2017 | December 2024 | |
| NCT00889174 | Completed | The Nosology and Etiology of Leukodystrophies of Unknown Causes | April 24, 2009 | August 1, 2018 | |
| NCT03333200 | Recruiting | Longitudinal Study of Neurodegenerative Disorders | January 11, 2012 | January 2035 | |
| NCT03639285 | Recruiting | Natural History, Diagnosis, and Outcomes for Leukodystrophies | January 19, 2007 | December 31, 2050 | |
| NCT05443906 | Recruiting | N/A | Home Exercise for Individuals With Neurodegenerative Disease | February 13, 2023 | July 30, 2027 |
| NCT03047369 | Recruiting | The Myelin Disorders Biorepository Project | December 8, 2016 | December 8, 2030 | |
| 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:1443
- Cross Reference ID (Disease Ontology)
- GARD:6895
- Cross Reference ID (Disease Ontology)
- ICD9CM:330.0
- Cross Reference ID (Disease Ontology)
- NCI:C61253
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:5101009
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C0023520
- HPO Human Phenotype ID (Human Phenotype Ontology)
- HP:0002415