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

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
go back to main search page
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.


show annotations for term's descendants           Sort by:
 
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
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      orofaciodigital syndrome 16
        orofaciodigital syndrome IV 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 IV 1
paths to the root

NHLBI Logo

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