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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 XVIII
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Accession:DOID:0060961 term browser browse the term
Definition:An orofaciodigital syndrome that is characterized by short stature, brachymesophalangy, pre- and postaxial polysyndactyly, and stocky femoral necks, as well as oral anomalies and dysmorphic facial features that has_material_basis_in homozygous mutation in the IFT57 gene on chromosome 3q13. (DO)
Synonyms:exact_synonym: OFD18;   OFDS XVIII;   ORAL-FACIAL-DIGITAL SYNDROME, TYPE XVIII;   Oral-facial-digital syndrome type 18;   Oral-facial-digital syndrome with short stature and brachymesophalangy;   Orofaciodigital syndrome type 18;   orofaciodigital syndrome 18
 alt_id: DOID:9006510
 xref: MIM:617927;   MONDO:0054770;   ORDO:508501


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orofaciodigital syndrome XVIII term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G IFT57 intraflagellar transport 57 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome 18 OMIM
ClinVar		 PMID:25741868 PMID:27060890 PMID:28492532 PMID:32860008 NCBI chr33:13,432,902...13,486,692
Ensembl chr33:13,410,544...13,486,612 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15673
    syndrome 10406
      orofaciodigital syndrome 32
        orofaciodigital syndrome XVIII 1
Path 2
Term Annotations click to browse term
  disease 15673
    disease of anatomical entity 15313
      musculoskeletal system disease 7941
        connective tissue disease 5468
          bone disease 3956
            bone development disease 2341
              dysostosis 628
                orofaciodigital syndrome 32
                  orofaciodigital syndrome XVIII 1
paths to the root