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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 IV
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Accession:DOID:0060374 term browser browse the term
Definition:An orofaciodigital syndrome that is characterized by dysmorphic facies, the development of harmartomas of the tongue, polydactyly and limb dysplasia, has_material_basis_in autosomal recessive inheritance of mutations in the TCTN3 gene. (DO)
Synonyms:exact_synonym: Baraitser-Burn syndrome;   Mohr-Majewski Syndrome;   OFD Syndrome, Baraitser-Burn Type;   OFD syndrome with tibial defects;   OFD4;   OFDS IV;   oral-facial-digital syndrome, type IV;   orofacial-digital syndrome IV;   orofaciodigital syndrome 4;   orofaciodigital syndrome with tibial dysplasia
 primary_id: MESH:C537133
 alt_id: OMIM:258860
 xref: ORDO:2753


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orofaciodigital syndrome IV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Entpd1 ectonucleoside triphosphate diphosphohydrolase 1 ISO ClinVar Annotator: match by term: Orofacial-digital syndrome IV ClinVar PMID:28492532 NCBI chr 1:239,425,515...239,552,323
Ensembl chr 1:239,425,430...239,552,317 		JBrowse link
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by term: MOHR-MAJEWSKI SYNDROME | ClinVar Annotator: match by term: Orofacial-digital syndrome IV
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:2692869 PMID:9536098 PMID:16199547 PMID:17576681 PMID:22883145 More... NCBI chr 1:239,414,003...239,425,273
Ensembl chr 1:239,415,203...239,425,272 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 18969
    syndrome 10889
      orofaciodigital syndrome 31
        orofaciodigital syndrome IV 2
Path 2
Term Annotations click to browse term
  disease 18969
    disease of anatomical entity 18249
      musculoskeletal system disease 8306
        connective tissue disease 5787
          bone disease 4302
            bone development disease 2307
              dysostosis 578
                orofaciodigital syndrome 31
                  orofaciodigital syndrome IV 2
paths to the root