trichohepatoenteric syndrome 2
Information
- Disease name
- trichohepatoenteric syndrome 2
- Disease ID
- DOID:0111416
- Description
- "A trichohepatoenteric syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the SKIV2L gene on chromosome 6p21.33." [url:https\://www.ncbi.nlm.nih.gov/pubmed/22444670]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0111414
- Cross Reference ID (Disease Ontology)
- MIM:614602
- Exact Synonym (Disease Ontology)
- THES2