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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: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. (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: OMIM:601216
 xref: GARD:5478;   ICD10CM:Q76.3;   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 15992
    syndrome 6097
      brachyolmia-amelogenesis imperfecta syndrome 1
Path 2
Term Annotations click to browse term
  disease 15992
    disease of anatomical entity 15263
      nervous system disease 10756
        sensory system disease 4969
          mouth disease 718
            tooth disease 270
              Tooth Abnormalities 139
                dental enamel hypoplasia 54
                  amelogenesis imperfecta 52
                    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.