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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

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


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brachyolmia-amelogenesis imperfecta syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ltbp3 latent transforming growth factor beta binding protein 3 ISO ClinVar Annotator: match by OMIM:601216
ClinVar Annotator: match by term: Verloes Bourguignon syndrome
OMIM
ClinVar
PMID:19213025, PMID:19344874, PMID:25669657, PMID:25741868, PMID:25899461, PMID:28492532, PMID:29625025 NCBI chr 1:221,099,155...221,116,096
Ensembl chr 1:221,099,998...221,116,096
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      brachyolmia-amelogenesis imperfecta syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      nervous system disease 10879
        sensory system disease 5213
          mouth disease 754
            tooth disease 281
              Tooth Abnormalities 148
                dental enamel hypoplasia 55
                  amelogenesis imperfecta 52
                    brachyolmia-amelogenesis imperfecta syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.