trichothiodystrophy
Information
- Disease name
- trichothiodystrophy
- Disease ID
- DOID:0111866
- Description
- "A syndrome characterized by sparse, brittle, sulfur-deficient hair that is easily broken and in more severe cases delayed development, significant intellectual disability, and recurrent infections." [url:https\://ghr.nlm.nih.gov/condition/trichothiodystrophy, url:https\://pubmed.ncbi.nlm.nih.gov/18603627/]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| ERCC2 | 19 | 45,349,837 | 45,370,573 | 4 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
| NCT ID | Status | Phase | Summary | Start date | Completion date |
|---|---|---|---|---|---|
| NCT05484570 | Recruiting | Natural History Study for DNA Repair Disorders | October 1, 2022 | August 2025 |
- Exact Synonym (Disease Ontology)
- TTD
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- MESH:D054463
- Cross Reference ID (Disease Ontology)
- MIM:PS601675
- Cross Reference ID (Disease Ontology)
- NCI:C4924
- Cross Reference ID (Disease Ontology)
- ORDO:33364
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:723551003
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1955934
- OMIM Phenotype Series Number (OMIM)
- PS601675
- OrphaNumber from OrphaNet (Orphanet)
- 33364