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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 that is characterized by malformations of the face, oral cavity, and digits, has_material_basis_in X-linked dominant inheritance of the OFD1 gene with lethality in males and is associated with polycystic kidney disease. (DO)
Synonyms:exact_synonym: OFD1;   OFDS I;   Papillon-Leage and Psaume syndrome;   Papillon-Leage-Psaume syndrome;   Papillon-League-Psaume syndrome;   oral facial digital syndrome, type I;   oral-facial-digital syndrome, type 1;   orofaciodigital syndrome 1;   orofaciodigital syndrome type I;   orofaciodigital syndrome type1
 xref: MESH:C537134;   MIM:311200;   MONDO:0010702;   NCI:C75481;   ORDO:2750


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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
ISS		 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)
CTD Direct Evidence: marker/mechanism
OMIM:311200
ClinVar Annotator: match by term: Oral-Facial-Digital Syndrome Type I | ClinVar Annotator: match by term: Oral-facial-digital syndrome type 1 | ClinVar Annotator: match by term: Orofaciodigital syndrome I		 OMIM
CTD
MouseDO
ClinVar
RGD		 PMID:9198060 PMID:9482645 PMID:9536098 PMID:11179005 PMID:11950863 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 19100
    syndrome 11271
      orofaciodigital syndrome 32
        orofaciodigital syndrome I 2
Path 2
Term Annotations click to browse term
  disease 19100
    disease of anatomical entity 18440
      musculoskeletal system disease 8492
        connective tissue disease 5960
          bone disease 4413
            bone development disease 2373
              dysostosis 632
                orofaciodigital syndrome 32
                  orofaciodigital syndrome I 2
paths to the root