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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 11 118,425,181 118,493,090 RGD:9068941
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 11 118,425,181 118,493,090 RGD:7240710
RGD:9068941

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 11839
    syndrome 4601
      ectodermal dysplasia 247
        orofacial cleft 7 1
          cleft lip-palate-ectodermal dysplasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 11839
    Developmental Diseases 8168
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6993
        Congenital Abnormalities 3442
          Musculoskeletal Abnormalities 1266
            Craniofacial Abnormalities 1018
              Maxillofacial Abnormalities 200
                Jaw Abnormalities 198
                  orofacial cleft 111
                    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.