trichohepatoenteric syndrome
Information
- Disease name
- trichohepatoenteric syndrome
- Disease ID
- DOID:0111414
- Description
- "A syndrome characterized by intractable diarrhea, facial dysmorphism, immune abnormalities, and hair abnormalities in nearly all patients with liver and/or skin abnormalities seen in more than half of cases that has_material_basis_in defects in components of the SKI complex." [url:https\://www.ncbi.nlm.nih.gov/pubmed/28944135]
Disease area statistics
Chromosome band
| Gene symbol | Chromosome | Start | Stop | The number of variant |
|---|---|---|---|---|
| SKIC3 | 5 | 95,461,755 | 95,554,977 | 8 |
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:225
- Cross Reference ID (Disease Ontology)
- GARD:5258
- Cross Reference ID (Disease Ontology)
- MESH:C565627
- Cross Reference ID (Disease Ontology)
- MIM:PS222470
- Cross Reference ID (Disease Ontology)
- ORDO:84064
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:703406006
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1857276
- Exact Synonym (Disease Ontology)
- phenotypic diarrhea
- Exact Synonym (Disease Ontology)
- SD/THE
- Exact Synonym (Disease Ontology)
- syndromic diarrhea
- Exact Synonym (Disease Ontology)
- Syndromic diarrhea/Tricho-hepato-enteric syndrome
- Exact Synonym (Disease Ontology)
- THES
- Exact Synonym (Disease Ontology)
- Tricho-hepato-enteric syndrome
- OMIM Phenotype Series Number (OMIM)
- PS222470