geleophysic dysplasia 2
Information
- Disease name
- geleophysic dysplasia 2
- Disease ID
- DOID:0111726
- Description
- "A geleophysic dysplasia that has_material_basis_in heterozygous mutation in exon 41 or 42 of the FBN1 gene on chromosome 15q21.1." [url:https\://www.ncbi.nlm.nih.gov/pubmed/21683322]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0111724
- Cross Reference ID (Disease Ontology)
- MIM:614185
- Exact Synonym (Disease Ontology)
- GPHYSD2