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ONTOLOGY REPORT - ANNOTATIONS


Term:EEC syndrome
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Accession:DOID:0060782 term browser browse the term
Definition:A syndrome characterized by ectrodactyly, ectodermal dysplasia, and orofacial clefts (cleft lip-palate). (DO)
Synonyms:exact_synonym: Ectrodactyly-Cleft Lip/Palate Syndrome;   Rudiger syndrome 1;   Walker-Clodius syndrome;   cleft lip-cleft palate-lobster claw deformity syndrome;   ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome;   ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome;   ectrodactyly-ectodermal dysplasia-clefting syndrome
 primary_id: MESH:C536189
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EEC syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:11554173
RGD:8554872
RGD:11568639
RGD:11568638
RGD:11070288
RGD:11568075
RGD:11568074
ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:1600403
RGD:7240710
RGD:8554872
RGD:11568640
RGD:11568642
RGD:11532814
RGD:11554173

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16022
    syndrome 6143
      EEC syndrome 1
        ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0
        ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 16022
    Developmental Diseases 9336
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8164
        Congenital Abnormalities 4509
          Musculoskeletal Abnormalities 1504
            Craniofacial Abnormalities 1237
              Maxillofacial Abnormalities 219
                Jaw Abnormalities 208
                  orofacial cleft 117
                    cleft palate 88
                      EEC syndrome 1
                        ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0
                        ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 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.