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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:orofacial cleft 7
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Accession:DOID:0080400 term browser browse the term
Definition:An orofacial cleft that has_material_basis_in by homozygous mutation in the PVRL1 gene on chromosome 11q23. (DO)
Synonyms:primary_id: MESH:C563464


show annotations for term's descendants           Sort by:
orofacial cleft 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,304 		JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, MARGARITA ISLAND TYPE | ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, TYPE 4 | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome OMIM
ClinVar		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,304 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17412
    syndrome 9894
      orofacial cleft 151
        orofacial cleft 7 1
          cleft lip-palate-ectodermal dysplasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 17412
    Developmental Disease 17260
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 17174
        Congenital Abnormalities 7316
          Musculoskeletal Abnormalities 3217
            Craniofacial Abnormalities 2595
              Maxillofacial Abnormalities 304
                Jaw Abnormalities 257
                  orofacial cleft 151
                    orofacial cleft 7 1
                      cleft lip-palate-ectodermal dysplasia syndrome 1
paths to the root