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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:oblique facial clefting 1
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Accession:DOID:0111706 term browser browse the term
Definition:An orofacial cleft characterized by a congenital unilateral or bilateral oculo-facial defect beginning at the upper lip lateral to the Cupid's bow, then running lateral to the nasal wing, ending at the the lower eyelid lateral to the inferior punctum that has_material_basis_in heterozygous mutation in the SPECC1L gene on chromosome 22q11.23. (DO)
Synonyms:exact_synonym: OBLFC1;   Oculomaxillofacial Dysostosis;   Richieri Costa Gorlin syndrome;   Tessier number 4 facial cleft;   oblique facial clefts;   oculomaxillofacial dysplasia with oblique facial clefts
 broad_synonym: SPECC1L-RELATED CONDITION
 primary_id: MESH:C537736
 alt_id: MIM:600251


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oblique facial clefting 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Specc1l sperm antigen with calponin homology and coiled-coil domains 1-like ISO ClinVar Annotator: match by term: Oblique facial clefts | ClinVar Annotator: match by term: Oculomaxillofacial dysostosis
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:21703590 PMID:25741868 PMID:28492532 NCBI chr20:13,337,983...13,443,665
Ensembl chr20:13,339,692...13,443,665 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19065
    physical disorder 5166
      orofacial cleft 157
        oblique facial clefting 1 1
Path 2
Term Annotations click to browse term
  disease 19065
    disease of anatomical entity 18355
      musculoskeletal system disease 8466
        connective tissue disease 5940
          bone disease 4394
            bone development disease 2367
              dysostosis 629
                synostosis 395
                  craniosynostosis 331
                    Crouzon syndrome 30
                      oblique facial clefting 1 1
paths to the root