FTP Download
Chinchilla Research Resource Database
   
Keyword
  

ONTOLOGY REPORT - ANNOTATIONS


Term:brachyolmia-amelogenesis imperfecta syndrome
go back to main search page
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
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14025
    syndrome 4467
      brachyolmia-amelogenesis imperfecta syndrome 2
Path 2
Term Annotations click to browse term
  disease 14025
    disease of anatomical entity 13238
      nervous system disease 8245
        sensory system disease 4016
          mouth disease 648
            tooth disease 219
              Tooth Abnormalities 103
                dental enamel hypoplasia 31
                  amelogenesis imperfecta 29
                    brachyolmia-amelogenesis imperfecta syndrome 2
paths to the root