fibrochondrogenesis 1
Information
- Disease name
- fibrochondrogenesis 1
- Disease ID
- DOID:0080672
- Description
- "A fibrochondrogenesis that is characterized by a flat midface with a small nose and anteverted nares, significant shortening of all limb segments but relatively normal hands and feet, and a small bell-shaped thorax with a protuberant abdomen and that has_material_basis_in compound heterozygous mutation in the COL11A1 gene on chromosome 1p21." [url:https\://pubmed.ncbi.nlm.nih.gov/21035103/]
Disease area statistics
[No Data.]
Chromosome band
[No Data.]
Annotation
| Genes | Mutation | Description | Source | Links |
|---|
- Disase is a (Disease Ontology)
- DOID:0060465
- Cross Reference ID (Disease Ontology)
- MIM:228520