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 homozygous or compound heterozygous mutation in the LTBP3 gene 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
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  disease 14875
    syndrome 4220
      brachyolmia-amelogenesis imperfecta syndrome 1
Path 2
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  disease 14875
    disease of anatomical entity 14051
      nervous system disease 9116
        sensory system disease 4246
          mouth disease 660
            tooth disease 224
              Tooth Abnormalities 103
                dental enamel hypoplasia 30
                  amelogenesis imperfecta 28
                    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.