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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 XIV
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Accession:DOID:0060958 term browser browse the term
Definition:An orofaciodigital syndrome that is characterized by severe microcephaly, trigonocephaly, severe intellectual disability and micropenis, in addition to oral, facial and digital malformations (gingival frenulae, lingual hamartomas, cleft/lobulated tongue, cleft palate, telecanthus, up-slanting palpebral fissures, microretrognathia, postaxial polydactyly of hands and duplication of hallux) that has_material_basis_in homozygous or compound heterozygous mutation in the C2CD3 gene on chromosome 11q13. (DO)
Synonyms:exact_synonym: C2CD3-RELATED CONDITION;   OFD14;   orofaciodigital syndrome 14
 alt_id: DOID:9002841
 xref: GARD:13655;   MIM:615948;   MONDO:0014413;   ORDO:434179

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orofaciodigital syndrome XIV term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G C2cd3 C2 domain containing 3 centriole elongation regulator ISO ClinVar Annotator: match by term: C2CD3-related condition | ClinVar Annotator: match by term: Orofaciodigital syndrome xiv OMIM
ClinVar		 PMID:9536098 PMID:16199547 PMID:17576681 PMID:24997988 PMID:25741868 More... NCBI chrNW_004624817:2,880,775...3,060,399
Ensembl chrNW_004624817:2,880,976...3,042,004 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14234
    syndrome 9756
      orofaciodigital syndrome 29
        orofaciodigital syndrome XIV 1
Path 2
Term Annotations click to browse term
  disease 14234
    disease of anatomical entity 13936
      musculoskeletal system disease 7384
        connective tissue disease 5040
          bone disease 3686
            bone development disease 2183
              dysostosis 586
                orofaciodigital syndrome 29
                  orofaciodigital syndrome XIV 1
paths to the root