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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:craniodiaphyseal dysplasia
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Accession:DOID:0080032 term browser browse the term
Definition:An osteosclerosis that results_in increased calcium concentration located_in skull which decreases the size of cranium foramina and cervical spinal canal. (DO)
Synonyms:primary_id: MESH:C562940
 alt_id: OMIM:218300;   RDO:0012440
 xref: GARD:1567
For additional species annotation, visit the Alliance of Genome Resources.


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autosomal dominant craniodiaphyseal dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sost sclerostin ISO ClinVar Annotator: match by OMIM:122860 OMIM
ClinVar
PMID:17853455 PMID:21221996 NCBI chr10:89,897,087...89,900,131
Ensembl chr10:89,897,087...89,900,131
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      musculoskeletal system disease 6244
        Musculoskeletal Abnormalities 2135
          Craniofacial Abnormalities 1858
            craniodiaphyseal dysplasia 1
              autosomal dominant craniodiaphyseal dysplasia 1
Path 2
Term Annotations click to browse term
  disease 16929
    disease of anatomical entity 16296
      musculoskeletal system disease 6244
        connective tissue disease 4355
          bone disease 3041
            bone development disease 1371
              osteochondrodysplasia 449
                osteosclerosis 42
                  craniodiaphyseal dysplasia 1
                    autosomal dominant craniodiaphyseal dysplasia 1
paths to the root