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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
For additional species annotation, visit the Alliance of Genome Resources.


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orofaciodigital syndrome IV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tctn3 tectonic family member 3 ISO ClinVar Annotator: match by OMIM:258860
ClinVar Annotator: match by term: MOHR-MAJEWSKI SYNDROME
ClinVar Annotator: match by term: Orofacial-digital syndrome IV
OMIM
ClinVar
PMID:22883145 PMID:24033266 PMID:25741868 PMID:26092869 PMID:28492532 NCBI chr 1:259,681,435...259,691,881
Ensembl chr 1:259,682,249...259,691,742
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16085
    syndrome 7041
      orofaciodigital syndrome 16
        orofaciodigital syndrome IV 1
Path 2
Term Annotations click to browse term
  disease 16085
    disease of anatomical entity 15340
      musculoskeletal system disease 5799
        connective tissue disease 4166
          bone disease 3538
            bone development disease 1344
              dysostosis 342
                orofaciodigital syndrome 16
                  orofaciodigital syndrome IV 1
paths to the root