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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:oculodentodigital dysplasia
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Accession:DOID:0060291 term browser browse the term
Definition:A syndrome characterized by craniofacial, neurologic, limb and ocular abnormalities. (DO)
Synonyms:exact_synonym: ODD Syndrome;   ODDD;   ODOD;   Oculo-Dento-Osseous Dysplasia;   Oculodentodigital Syndrome;   Oculodentoosseous Dysplasia;   oculo-dento-digital dysplasia;   osseous-oculo-dental dysplasia
 primary_id: MESH:C563160
 alt_id: OMIM:164200
 xref: GARD:7239;   ORDO:2710
For additional species annotation, visit the Alliance of Genome Resources.



show annotations for term's descendants           Sort by:
oculodentodigital dysplasia term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO DNA:missense mutation:cds:p.P59H (human)
ClinVar Annotator: match by term: Oculodentodigital dysplasia
DNA:missense mutation:cds:p.G60S (mouse)
DNA:missense mutations, duplication:multiple (human)
DNA:missense mutation: :p.H194P (human)
DNA:mutation:cd:p.G138R(mouse)
CTD Direct Evidence: marker/mechanism
ClinVar
OMIM
CTD
RGD
PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 More... RGD:1578474, RGD:8662372, RGD:8662375, RGD:8662400, RGD:12910132 NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
Oculodentodigital Dysplasia, Autosomal Recessive term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Gja1 gap junction protein, alpha 1 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive OMIM
ClinVar
PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14974090 More... NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link
G Tbc1d32 TBC1 domain family, member 32 ISO ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive ClinVar PMID:28492532 NCBI chr20:35,359,865...35,590,992
Ensembl chr20:35,359,863...35,590,415
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18203
    syndrome 9805
      oculodentodigital dysplasia 2
        Oculodentodigital Dysplasia, Autosomal Recessive 2
Path 2
Term Annotations click to browse term
  disease 18203
    disease of anatomical entity 17561
      Skin and Connective Tissue Diseases 6843
        connective tissue disease 5170
          bone disease 3847
            bone development disease 1906
              dysostosis 449
                synostosis 294
                  syndactyly 77
                    oculodentodigital dysplasia 2
                      Oculodentodigital Dysplasia, Autosomal Recessive 2
paths to the root