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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;   Oral-facial-digital syndrome, type 6;   Orofaciodigital Syndrome VI;   Orofaciodigital syndrome 6;   Polydactyly cleft lip palate psychomotor retardation;   Polydactyly, Cleft Lip-Palate or Lingual Lump, and Psychomotor Retardation;   Varadi Papp syndrome;   Varadi Syndrome
 primary_id: MESH:C536531;   RDO:0002142
 alt_id: OMIM:277170
 xref: GARD:4412;   NCI:C124841;   ORDO:2754
For additional species annotation, visit the Alliance of Genome Resources.


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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 1 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome 6
ClinVar Annotator: match by term: Orofaciodigital syndrome VI
ClinVar
OMIM
PMID:18414213, PMID:22425360, PMID:23523602, PMID:24091540, PMID:24178751, PMID:25407461, PMID:25741868, PMID:25846457, PMID:25920555, PMID:26092869, PMID:27081551, PMID:27434533, PMID:28125082, PMID:28289185, PMID:28431631, PMID:28454995, PMID:28492532, PMID:29321670, PMID:29605658, PMID:30311386 NCBI chr 2:57,274,175...57,350,003
NCBI chr 2:57,444,373...57,472,465
Ensembl chr 2:57,276,919...57,348,481
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      orofaciodigital syndrome 16
        Joubert syndrome with orofaciodigital defect 1
Path 2
Term Annotations click to browse term
  disease 16058
    disease of anatomical entity 15305
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4099
          bone disease 3528
            bone development disease 1335
              dysostosis 342
                orofaciodigital syndrome 16
                  Joubert syndrome with orofaciodigital defect 1
paths to the root

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