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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 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
For additional species annotation, visit the Alliance of Genome Resources.


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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 14759
    syndrome 4210
      brachyolmia-amelogenesis imperfecta syndrome 1
Path 2
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  disease 14759
    disease of anatomical entity 13978
      nervous system disease 9097
        sensory system disease 4231
          mouth disease 655
            tooth disease 221
              Tooth Abnormalities 100
                dental enamel hypoplasia 30
                  amelogenesis imperfecta 28
                    brachyolmia-amelogenesis imperfecta syndrome 1
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