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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:Joubert syndrome with orofaciodigital defect
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Accession:DOID:0060376 term browser browse the term
Definition:A Joubert syndrome that is characterized by orofaciodigital defect. (DO)
Synonyms:exact_synonym: OFD6;   OFDS VI;   Oral-Facial-Digital Syndrome, Type VI;   Orofaciodigital Syndrome VI;   Orofaciodigital syndrome 6;   Polydactyly, Cleft Lip-Palate or Lingual Lump, and Psychomotor Retardation;   Varadi Papp syndrome;   Varadi syndrome;   oral-facial-digital syndrome, type 6;   polydactyly, cleft lip palate, psychomotor retardation
 broad_synonym: CPLANE1-RELATED CONDITION
 xref: GARD:4412;   MESH:C536531;   MIM:277170;   MONDO:0010176;   NCI:C124841;   ORDO:2754


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Joubert syndrome with orofaciodigital defect term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Cplane1 ciliogenesis and planar polarity effector complex subunit 1 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: OFDS VI | ClinVar Annotator: match by term: Orofaciodigital syndrome VI | ClinVar Annotator: match by term: Varadi-Papp syndrome		 OMIM
CTD
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:18414213 PMID:20301500 More... NCBI chr 2:57,269,195...57,369,580
Ensembl chr 2:57,268,884...57,369,500 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19099
    syndrome 11270
      orofaciodigital syndrome 32
        Joubert syndrome with orofaciodigital defect 1
Path 2
Term Annotations click to browse term
  disease 19099
    disease of anatomical entity 18440
      Skin and Connective Tissue Diseases 7807
        connective tissue disease 5958
          bone disease 4411
            bone development disease 2373
              dysostosis 632
                orofaciodigital syndrome 32
                  Joubert syndrome with orofaciodigital defect 1
paths to the root