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MIRAGE
brachyolmia-amelogenesis imperfecta syndrome
Summary
- Synonym
-
- DASS
- STHAG6
- dental anomalies and short stature
- platyspondyly with amelogenesis imperfecta
- selective tooth agenesis 5
- Definition
- A syndrome characterized by skeletal dysplasia (broad ilia, elongated femoral necks with coxa valga, scoliosis), mild platyspondyly, short trunked short stature, and amelogenesis imperfecta that has_material_basis_in autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13.
- Super Class
- autosomal recessive disease syndrome
External Links
- Disease Ontology
- DOID:0090143
- Mondo Disease Ontology
- ORDO
- GARD
- MGI genotype (from TogoID)
Related Genes
Related Glycoprotein
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q9NS15 | Latent-transforming growth factor beta-binding protein 3 |
| UniProt ID | Protein Name | Source |
|---|---|---|
| Q61810 | Latent-transforming growth factor beta-binding protein 3 |
