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RGD uses the Human Disease Ontology (DO, 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: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;   Levin syndrome 2;   Osteogenesis Imperfecta, Levin Type;   gnathodiaphyseal sclerosis;   osteogenesis imperfecta with unusual skeletal lesions
 primary_id: MESH:C536039
 alt_id: OMIM:166260
 xref: GARD:8698;   ORDO:53697
For additional species annotation, visit the Alliance of Genome Resources.

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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16918
    Stomatognathic Diseases 977
      Jaw Diseases 294
        Jaw Abnormalities 221
          gnathodiaphyseal dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16918
    disease of anatomical entity 16286
      musculoskeletal system disease 6244
        connective tissue disease 4355
          bone disease 3040
            bone development disease 1371
              osteochondrodysplasia 449
                osteogenesis imperfecta 39
                  gnathodiaphyseal dysplasia 1
paths to the root