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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-Digital Dysplasia;   Oculo-Dento-Osseous Dysplasia;   Oculodentodigital Syndrome;   Oculodentoosseous Dysplasia;   Osseous-Oculo-Dental Dysplasia
 primary_id: MESH:C563160
 alt_id: OMIM:164200;   RDO:0012536
 xref: GARD:7239;   ORDO:2710
For additional species annotation, visit the Alliance of Genome Resources.



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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
ClinVar Annotator: match by OMIM:164200
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 ClinVar
OMIM
PMID:2309863 PMID:11470490 PMID:12457340 PMID:14974090 PMID:14981729 More... NCBI chr20:35,756,007...35,768,481
Ensembl chr20:35,755,991...35,768,582
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      oculodentodigital dysplasia 1
        Oculodentodigital Dysplasia, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      Skin and Connective Tissue Diseases 5863
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              dysostosis 394
                synostosis 242
                  syndactyly 62
                    oculodentodigital dysplasia 1
                      Oculodentodigital Dysplasia, Autosomal Recessive 1
paths to the root