brachyolmia-amelogenesis imperfecta syndrome Disease Ontology Browser

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)

Allelic Composition	Genetic Background	Reference	Phenotypes
\Ltbp3tm1Bdvc/\Ltbp3tm1Bdvc	involves: 129S6/SvEvTac	J:220985	View

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)
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