| Metadata | |
|---|---|
| ID | DOID:0090143 |
| Name | brachyolmia-amelogenesis imperfecta syndrome |
| 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. https://www.omim.org/entry/601216, https://www.ncbi.nlm.nih.gov/pubmed/30887145 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
DASS [EXACT] dental anomalies and short stature [EXACT] platyspondyly with amelogenesis imperfecta [EXACT] selective tooth agenesis 5 [EXACT] STHAG6 [EXACT] |
| Parent Relationships |
is_a syndrome |
| Subclass Logical Relationships |
has material basis in some autosomal recessive inheritance |