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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 16058
    syndrome 6996
      oculodentodigital dysplasia 1
        Oculodentodigital Dysplasia, Autosomal Recessive 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      musculoskeletal system disease 5739
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              dysostosis 342
                synostosis 229
                  syndactyly 58
                    oculodentodigital dysplasia 1
                      Oculodentodigital Dysplasia, Autosomal Recessive 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.