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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


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
ISS		 DNA:missense mutation:cds:p.P59H (human)
ClinVar Annotator: match by term: Oculodentodigital dysplasia
OMIM:164200 | OMIM:257850
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
MouseDO
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 CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Oculodentodigital dysplasia, autosomal recessive		 OMIM
CTD
ClinVar		 PMID:2309863 PMID:11146471 PMID:11470490 PMID:12457340 PMID:14729836 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 21128
    syndrome 10833
      oculodentodigital dysplasia 2
        Oculodentodigital Dysplasia, Autosomal Recessive 2
Path 2
Term Annotations click to browse term
  disease 21128
    disease of anatomical entity 18211
      musculoskeletal system disease 8272
        connective tissue disease 5757
          bone disease 4270
            bone development disease 2304
              dysostosis 577
                synostosis 376
                  syndactyly 147
                    oculodentodigital dysplasia 2
                      Oculodentodigital Dysplasia, Autosomal Recessive 2
paths to the root