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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 11 119,638,098 119,729,200 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 11 119,638,098 119,729,200 RGD:8554872
RGD:11554173
RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16434
    syndrome 5505
      ectodermal dysplasia 267
        orofacial cleft 7 1
          cleft lip-palate-ectodermal dysplasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 16434
    Developmental Diseases 10218
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8352
        Congenital Abnormalities 4065
          Musculoskeletal Abnormalities 1484
            Craniofacial Abnormalities 1205
              Maxillofacial Abnormalities 209
                Jaw Abnormalities 207
                  orofacial cleft 117
                    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.