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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:orofaciodigital syndrome III
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Accession:DOID:0060373 term browser browse the term
Definition:An orofaciodigital syndrome that is characterized by dysmorphic facies and severe intellectual deficits, and has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: OFDS III;   Sugarman syndrome;   brachydactyly of the hands and feet with duplication of the first toes;   brachydactyly with major proximal phalangeal shortening;   oral-facial-digital syndrome 3;   oral-facial-digital syndrome, type III;   orofaciodigital syndrome 3
 primary_id: MESH:C557817
 alt_id: OMIM:258850
 xref: ORDO:2752
For additional species annotation, visit the Alliance of Genome Resources.


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orofaciodigital syndrome III term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Celsr2 cadherin, EGF LAG seven-pass G-type receptor 2 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome III ClinVar NCBI chr 2:196,029,206...196,053,848
Ensembl chr 2:196,029,434...196,053,845 		JBrowse link
G Ofd1 Ofd1 centriole and centriolar satellite protein ISO ClinVar Annotator: match by term: Orofaciodigital syndrome III ClinVar NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18109
    syndrome 9634
      orofaciodigital syndrome 18
        orofaciodigital syndrome III 2
Path 2
Term Annotations click to browse term
  disease 18109
    disease of anatomical entity 17480
      musculoskeletal system disease 7162
        connective tissue disease 4954
          bone disease 3629
            bone development disease 1807
              dysostosis 440
                orofaciodigital syndrome 18
                  orofaciodigital syndrome III 2
paths to the root