About   Help   FAQ
Disease Ontology Browser
brachyolmia-amelogenesis imperfecta syndrome (DOID:0090143)
Alliance: disease page
Synonyms: DASS; dental anomalies and short stature; platyspondyly with amelogenesis imperfecta; selective tooth agenesis 5; STHAG6
Alt IDs: OMIM:601216, ICD10CM:Q76.3, ORDO:2899
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.

Disease References using Mouse Models (1)
Contributing Projects:
Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Models of Human Cancer database (MMHCdb) (formerly Mouse Tumor Biology (MTB)), Gene Ontology (GO)
Citing These Resources
Funding Information
Warranty Disclaimer, Privacy Notice, Licensing, & Copyright
Send questions and comments to User Support. 		last database update
11/19/2024
MGI 6.24 		The Jackson Laboratory