ONTOLOGY REPORT - ANNOTATIONS


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 with retinal abnormalities;   Orofaciodigital Syndrome, Type 9;   Orofaciodigital syndrome 9;   oral-facial-digital syndrome 9;   orofaciodigital syndrome with retinal abnormalities
 primary_id: MESH:C557818
 alt_id: OMIM:258865;   RDO:0009982
 xref: GARD:10520;   ORDO:141007
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orofaciodigital syndrome IX term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Sclt1 sodium channel and clathrin linker 1 JBrowse link 2 128,523,376 128,675,668 RGD:8554872

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Path 1
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  disease 14875
    syndrome 4220
      orofaciodigital syndrome 13
        orofaciodigital syndrome IX 1
Path 2
Term Annotations click to browse term
  disease 14875
    disease of anatomical entity 14051
      Skin and Connective Tissue Diseases 3903
        connective tissue disease 2572
          bone disease 2118
            bone development disease 891
              dysostosis 233
                orofaciodigital syndrome 13
                  orofaciodigital syndrome IX 1
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