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Term:brachyolmia-amelogenesis imperfecta syndrome
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Accession:DOID:0090143 term browser browse the term
Definition:An autosomal recessive disease 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 homozygous or compound heterozygous mutation in the LTBP3 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: DASS;   PLATYSPONDYLY WITH AMELOGENESIS IMPERFECTA;   STHAG6;   Verloes Bourguignon Syndrome;   dental anomalies and short stature;   selective tooth agenesis 5;   selective tooth agenesis 6;   skeletal dysplasia with amelogenesis imperfecta and platyspondyly
 primary_id: MESH:C536538;   MESH:C567755
 alt_id: DOID:9001042;   OMIM:601216;   RDO:0002151;   RDO:0015735
 xref: GARD:5478
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brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp2 latent transforming growth factor beta binding protein 2 JBrowse link 6 108,500,114 108,596,653 RGD:7240710
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:7240710

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  disease 14383
    syndrome 4654
      brachyolmia-amelogenesis imperfecta syndrome 2
Path 2
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  disease 14383
    disease of anatomical entity 13567
      nervous system disease 8645
        sensory system disease 4109
          mouth disease 661
            tooth disease 226
              Tooth Abnormalities 105
                dental enamel hypoplasia 32
                  amelogenesis imperfecta 30
                    brachyolmia-amelogenesis imperfecta syndrome 2
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