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orofacial cleft 7 - Ontology Report - Rat Genome Database

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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

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orofacial cleft 7 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 PMID:32554531 NCBI chrNW_004624784:14,997,533...15,058,971
Ensembl chrNW_004624784:14,997,424...15,059,761 		JBrowse link
G G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 PMID:32554531 NCBI chr 1:111,046,310...111,116,906
Ensembl chr 1:111,046,333...111,116,698 		JBrowse link
G P NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 PMID:32554531 NCBI chr 9:46,823,552...46,891,564
Ensembl chr 9:46,789,726...46,891,304 		JBrowse link
G S Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 PMID:32554531 NCBI chrNW_004936542:4,501,081...4,602,338
Ensembl chrNW_004936542:4,539,931...4,602,344 		JBrowse link
G D NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 PMID:32554531 NCBI chr 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060 		JBrowse link
G B NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 PMID:32554531 NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090 		JBrowse link
G C Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 PMID:32554531 NCBI chrNW_004955412:20,683,007...20,745,069
Ensembl chrNW_004955412:20,682,861...20,745,069 		JBrowse link
G R Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 PMID:32554531 NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:44,101,776...44,189,787 		JBrowse link
G M Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 PMID:32554531 NCBI chr 9:43,655,251...43,718,758
Ensembl chr 9:43,655,281...43,743,955 		JBrowse link
G H NECTIN1 nectin cell adhesion molecule 1 IAGP ClinVar Annotator: match by term: Orofacial cleft 7 ClinVar PMID:10932188 PMID:11559849 PMID:32554531 NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G N Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome OMIM
ClinVar		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chrNW_004624784:14,997,533...15,058,971
Ensembl chrNW_004624784:14,997,424...15,059,761 		JBrowse link
G G NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome OMIM
ClinVar		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr 1:111,046,310...111,116,906
Ensembl chr 1:111,046,333...111,116,698 		JBrowse link
G P NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition | 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
G S Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome OMIM
ClinVar		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chrNW_004936542:4,501,081...4,602,338
Ensembl chrNW_004936542:4,539,931...4,602,344 		JBrowse link
G D NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome OMIM
ClinVar		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr 5:14,228,197...14,292,825
Ensembl chr 5:14,228,197...14,315,060 		JBrowse link
G B NECTIN1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome OMIM
ClinVar		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr11:114,497,177...114,565,338
Ensembl chr11:118,401,321...118,493,090 		JBrowse link
G C Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome OMIM
ClinVar		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chrNW_004955412:20,683,007...20,745,069
Ensembl chrNW_004955412:20,682,861...20,745,069 		JBrowse link
G R Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr 8:52,998,662...53,061,745
Ensembl chr 8:44,101,776...44,189,787 		JBrowse link
G M Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr 9:43,655,251...43,718,758
Ensembl chr 9:43,655,281...43,743,955 		JBrowse link
G H NECTIN1 nectin cell adhesion molecule 1 IAGP
EXP		 ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome
ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome | ClinVar Annotator: match by term: NECTIN1-related condition | ClinVar Annotator: match by term: Zlotogora-Ogur syndrome
CTD Direct Evidence: marker/mechanism		 ClinVar
CTD
OMIM		 PMID:3035184 PMID:10932188 PMID:11559849 PMID:11756979 PMID:12893758 More... NCBI chr11:119,638,098...119,729,200
Ensembl chr11:119,623,408...119,729,200 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 288179
    syndrome 133013
      orofacial cleft 2463
        orofacial cleft 7 10
          cleft lip-palate-ectodermal dysplasia syndrome 10
Path 2
Term Annotations click to browse term
  disease 288179
    Developmental Disease 170851
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 156678
        Congenital Abnormalities 85100
          Musculoskeletal Abnormalities 36774
            Craniofacial Abnormalities 29843
              Maxillofacial Abnormalities 4053
                Jaw Abnormalities 3582
                  orofacial cleft 2463
                    orofacial cleft 7 10
                      cleft lip-palate-ectodermal dysplasia syndrome 10
paths to the root