FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term brachyolmia-amelogenesis imperfecta syndrome ID (Ontology) DOID:0090143 (Human Disease)
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.
Also Known As "DASS" ; "dental anomalies and short stature" ; "platyspondyly with amelogenesis imperfecta" (for all, see Synonyms field below)
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 Genes
 brachyolmia-amelogenesis imperfecta syndrome       2
 for disease ribbon | brachyolmia-amelogenesis imperfecta syndrome       2
 model of | brachyolmia-amelogenesis imperfecta syndrome       2
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__
disease                          |
 |__syndrome_____________________|
                                 brachyolmia-amelogenesis imperfecta syndrome  2 rec.
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Is a autosomal recessive disease
syndrome
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Synonyms
  • "DASS" EXACT OMO:0003012
    "dental anomalies and short stature" EXACT
    "platyspondyly with amelogenesis imperfecta" EXACT
    "selective tooth agenesis 5" EXACT
    "STHAG6" EXACT OMO:0003012
Secondary IDs
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GARD:5478
ICD10CM:Q76.3
MIM:601216
ORDO:2899