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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 IX
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Accession:DOID:0060382 term browser browse the term
Definition:An orofaciodigital syndrome that is characterized by highly arched palate with bifid tongue, harmartomatous tongue, hypertelorism, telecanthus, strabismus,bifid nasal tip, short stature, bifid halluces, forked metatarsal, polydactyly, mild intellectual deficit and specific retinal abnormalities, and has_material_basis_in autosomal recessive inheritance. (DO)
Synonyms:exact_synonym: OFD9;   OFDS IX;   oral facial digital syndrome, type IX;   oral-facial-digital syndrome 9;   oral-facial-digital syndrome with retinal abnormalities;   orofaciodigital syndrome 9;   orofaciodigital syndrome with retinal abnormalities;   orofaciodigital syndrome, type 9
 primary_id: MESH:C557818
 alt_id: OMIM:258865
 xref: GARD:10520;   ORDO:141007
For additional species annotation, visit the Alliance of Genome Resources.


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orofaciodigital syndrome IX term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Sclt1 sodium channel and clathrin linker 1 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome 9 ClinVar NCBI chr 2:124,605,445...124,763,964
Ensembl chr 2:124,605,658...124,764,065
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      orofaciodigital syndrome 17
        orofaciodigital syndrome IX 1
Path 2
Term Annotations click to browse term
  disease 17207
    disease of anatomical entity 16553
      musculoskeletal system disease 6418
        connective tissue disease 4422
          bone disease 3108
            bone development disease 1414
              dysostosis 392
                orofaciodigital syndrome 17
                  orofaciodigital syndrome IX 1
paths to the root