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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 I
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Accession:DOID:0060316 term browser browse the term
Definition:An orofaciodigital syndrome characterized by polycystic kidney disease and variable involvement of the central nervous system and has_material_basis_in X-linked inheritance of the OFD1 gene.
Synonyms:exact_synonym: OFD1;   OFDS I;   Oral-facial-digital syndrome, type 1;   Orofaciodigital syndrome type1;   Papillon-Leage and Psaume syndrome;   Papillon-Leage-Psaume syndrome;   Papillon-League-Psaume syndrome;   oral facial digital syndrome, type I;   orofaciodigital syndrome 1;   orofaciodigital syndrome type I
 primary_id: MESH:C537134
 alt_id: OMIM:311200;   RDO:0002909;   RDO:9004401
 xref: NCI:C75481;   ORDO:2750
For additional species annotation, visit the Alliance of Genome Resources.



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orofaciodigital syndrome I term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Ofd1 OFD1, centriole and centriolar satellite protein ISO DNA:mutations:exon, intron:multiple
DNA:frameshift mutations, missense mutation, splice-site mutation:multiple
DNA:deletion:exon:c.2183delG (human)
DNA:frameshift mutations, missense mutation, nonsense mutation:multiple
DNA:missense mutation:exon:243C>G (H81Q) (human)
ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I
ClinVar Annotator: match by term: Orofaciodigital syndrome I
OMIM
ClinVar
RGD
PMID:9198060 PMID:9482645 PMID:11179005 PMID:11950863 PMID:16783569 More... RGD:11535957, RGD:11535958, RGD:11535960, RGD:11535966, RGD:11535968 NCBI chr  X:28,015,347...28,056,115
Ensembl chr  X:28,015,347...28,056,110
JBrowse link
G Tmem17 transmembrane protein 17 ISO ClinVar Annotator: match by term: Orofaciodigital syndrome I ClinVar PMID:25741868 PMID:26982032 NCBI chr14:96,483,648...96,524,238
Ensembl chr14:96,518,793...96,524,233
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17289
    syndrome 8166
      orofaciodigital syndrome 17
        orofaciodigital syndrome I 2
Path 2
Term Annotations click to browse term
  disease 17289
    disease of anatomical entity 16625
      musculoskeletal system disease 6466
        connective tissue disease 4447
          bone disease 3124
            bone development disease 1425
              dysostosis 394
                orofaciodigital syndrome 17
                  orofaciodigital syndrome I 2
paths to the root