Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   


RGD uses the Human Disease Ontology (DO, 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
go back to main search page
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.

show annotations for term's descendants           Sort by:
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 2:128,523,376...128,675,668
Ensembl chr 2:128,523,636...128,675,408
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      orofaciodigital syndrome 16
        orofaciodigital syndrome IX 1
Path 2
Term Annotations click to browse term
  disease 16023
    disease of anatomical entity 15278
      musculoskeletal system disease 5757
        connective tissue disease 4103
          bone disease 3534
            bone development disease 1343
              dysostosis 344
                orofaciodigital syndrome 16
                  orofaciodigital syndrome IX 1
paths to the root


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