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ONTOLOGY REPORT - ANNOTATIONS


Term:gnathodiaphyseal dysplasia
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Accession:DOID:0111533 term browser browse the term
Definition:Gnathodiaphyseal dysplasia is an autosomal dominant generalized skeletal syndrome characterized by cementoosseous lesions of the jawbones, in conjunction with bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones. GDD is caused by heterozygous mutation in the ANO5 gene on chromosome 11p14. (OMIM)
Synonyms:exact_synonym: GDD;   GNATHODIAPHYSEAL SCLEROSIS;   Levin syndrome 2;   OSTEOGENESIS IMPERFECTA WITH UNUSUAL SKELETAL LESIONS;   Osteogenesis Imperfecta, Levin Type
 primary_id: MESH:C536039
 alt_id: DOID:9008375;   OMIM:166260
 xref: GARD:8698;   ORDO:53697
For additional species annotation, visit the Alliance of Genome Resources.


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gnathodiaphyseal dysplasia term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Ano5 anoctamin 5 JBrowse link 1 106,873,580 106,971,769 RGD:7240710
RGD:8554872
RGD:11570556
RGD:11570566

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15553
    Stomatognathic Diseases 870
      Jaw Diseases 261
        Jaw Abnormalities 206
          gnathodiaphyseal dysplasia 1
Path 2
Term Annotations click to browse term
  disease 15553
    disease of anatomical entity 14837
      musculoskeletal system disease 4326
        connective tissue disease 2797
          bone disease 2248
            bone development disease 1009
              osteochondrodysplasia 414
                osteogenesis imperfecta 38
                  gnathodiaphyseal dysplasia 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.