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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:gnathodiaphyseal dysplasia
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Accession:DOID:0111533 term browser browse the term
Definition:An osteochondrodysplasia characterized by cementoosseous lesions of the jawbones, bone fragility, bowing/cortical thickening of tubular bones, and diaphyseal sclerosis of long bones that has_material_basis_in heterozygous mutation in the ANO5 gene on chromosome 11p14.3. (DO)
Synonyms:exact_synonym: GDD;   Levin syndrome 2;   gnathodiaphyseal sclerosis;   osteogenesis imperfecta with unusual skeletal lesions;   osteogenesis imperfecta, Levin type
 primary_id: MESH:C536039
 alt_id: OMIM:166260
 xref: GARD:8698;   ORDO:53697


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gnathodiaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ano5 anoctamin 5 ISO
ISS		 DNA:missense mutation:exon:p.T513I (c.1538C>T) (human)
DNA:missense mutations:exon:p.C356R, p.C356G (human)
CTD Direct Evidence: marker/mechanism
OMIM:166260
ClinVar Annotator: match by term: Gnathodiaphyseal dysplasia | ClinVar Annotator: match by term: Osteogenesis imperfecta with unusual skeletal lesions		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:3530687 PMID:5816667 PMID:9536098 PMID:9673985 PMID:15124103 More... RGD:11570556, RGD:11570566 NCBI chr 1:101,086,490...101,187,547
Ensembl chr 1:101,087,341...101,187,555 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    Stomatognathic Diseases 1347
      Jaw Diseases 377
        Jaw Abnormalities 263
          gnathodiaphyseal dysplasia 1
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              osteochondrodysplasia 861
                osteogenesis imperfecta 55
                  gnathodiaphyseal dysplasia 1
paths to the root