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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 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)
ClinVar Annotator: match by term: Oculodentodigital dysplasia
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:220941 PMID:1057461 PMID:2309863 PMID:4209752 PMID:7815444 PMID:10331943 PMID:11470490 PMID:12457340 PMID:15108203 PMID:15192806 PMID:15551259 PMID:15637728 PMID:15879313 PMID:16155213 PMID:16211004 PMID:16378922 PMID:16709485 PMID:17256797 PMID:17420259 PMID:17509830 PMID:17687502 PMID:18003637 PMID:18077386 PMID:18079109 PMID:18660473 PMID:18946008 PMID:19057520 PMID:19638688 PMID:19725242 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23550541 PMID:25741868 PMID:28492532, PMID:16219735, PMID:16155213, PMID:12457340, PMID:15637728, PMID:18003637 RGD:1578474, RGD:8662372, RGD:8662375, RGD:8662400, RGD:12910132 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
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 PMID:15192806 PMID:15879313 PMID:16531323 PMID:16816024 PMID:17901047 PMID:18003637 PMID:18946008 PMID:19057520 PMID:19338053 PMID:21215473 PMID:21670345 PMID:22090377 PMID:22179534 PMID:23103513 PMID:23304551 PMID:23465283 PMID:23606748 PMID:25388818 PMID:25398053 PMID:25741868 PMID:27226478 PMID:28492532 NCBI chr20:37,876,650...37,889,097
Ensembl chr20:37,876,650...37,889,089
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      oculodentodigital dysplasia 1
        Oculodentodigital Dysplasia, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      Skin and Connective Tissue Diseases 5492
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              dysostosis 342
                synostosis 228
                  syndactyly 58
                    oculodentodigital dysplasia 1
                      Oculodentodigital Dysplasia, Autosomal Recessive 1
paths to the root