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ONTOLOGY REPORT - ANNOTATIONS


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 autosomal recessive inheritance of homozygous or compound heterozygous mutation in the latent transforming growth factor beta binding protein 3 gene (LTBP3) on chromosome 11q13. (DO)
Synonyms:exact_synonym: DASS;   STHAG6;   Verloes Bourguignon Syndrome;   dental anomalies and short stature;   platyspondyly with amelogenesis imperfecta;   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;   ORDO:2899
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brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ltbp3 latent transforming growth factor beta binding protein 3 JBrowse link 1 221,099,155 221,116,096 RGD:7240710
RGD:8554872

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Path 1
Term Annotations click to browse term
  disease 15619
    syndrome 5154
      brachyolmia-amelogenesis imperfecta syndrome 1
Path 2
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  disease 15619
    disease of anatomical entity 14948
      nervous system disease 10216
        sensory system disease 4674
          mouth disease 677
            tooth disease 239
              Tooth Abnormalities 112
                dental enamel hypoplasia 32
                  amelogenesis imperfecta 30
                    brachyolmia-amelogenesis imperfecta syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.