OBO ID: DOID:0090143
Term Name: brachyolmia-amelogenesis imperfecta syndrome Search Ontology:
Synonyms:
  • DASS
  • dental anomalies and short stature
  • platyspondyly with amelogenesis imperfecta
  • selective tooth agenesis 5
  • STHAG6
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. (2)
References:
Ontology: Human Disease   (DOID:0090143)
OTHER brachyolmia-amelogenesis imperfecta syndrome PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
LTBP3 Dental anomalies and short stature 601216
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None