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ONTOLOGY REPORT - ANNOTATIONS


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
 alt_id: DOID:9002828;   RDO:0012712
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orofacial cleft 7 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 8 48,094,233 48,198,499 RGD:8554872
cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Nectin1 nectin cell adhesion molecule 1 JBrowse link 8 48,094,233 48,198,499 RGD:7240710
RGD:11554173
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      ectodermal dysplasia 249
        orofacial cleft 7 1
          cleft lip-palate-ectodermal dysplasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        Congenital Abnormalities 3574
          Musculoskeletal Abnormalities 1294
            Craniofacial Abnormalities 1039
              Maxillofacial Abnormalities 208
                Jaw Abnormalities 205
                  orofacial cleft 115
                    orofacial cleft 7 1
                      cleft lip-palate-ectodermal dysplasia syndrome 1
paths to the root

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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.