lethal congenital contracture syndrome 1
Information
- Disease name
- lethal congenital contracture syndrome 1
- Disease ID
- DOID:0060559
- Description
- "A lethal congenital contracture syndrome that has_material_basis_in homozygous or compound heterozygous mutation in the mRNA export mediator the GLE1 gene on chromosome 9q34." [url:https\://www.ncbi.nlm.nih.gov/pubmed/9683599]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060558
- Cross Reference ID (Disease Ontology)
- GARD:3227
- Cross Reference ID (Disease Ontology)
- MESH:C537194
- Cross Reference ID (Disease Ontology)
- MIM:253310
- Cross Reference ID (Disease Ontology)
- ORDO:1486
- Cross Reference ID (Disease Ontology)
- SNOMEDCT_US_2023_03_01:715418007
- Cross Reference ID (Disease Ontology)
- UMLS_CUI:C1854664
- Exact Synonym (Disease Ontology)
- LCCS1
- Exact Synonym (Disease Ontology)
- multiple contracture syndrome, Finnish type