ONTOLOGY REPORT - ANNOTATIONS


Term:ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3
go back to main search page
Accession:DOID:0060783 term browser browse the term
Definition:An EEC syndrome characterized by autosomal dominant inheritance of absence of the central parts of the hands and feet, resulting in split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate that has_material basis in heterozygous mutation in the TP63 gene on chromosome 3q28. (DO)
Synonyms:exact_synonym: EEC Syndrome 3;   EEC3
 primary_id: MESH:C565799;   RDO:0014343
 alt_id: OMIM:604292
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants       view all columns           Sort by:
 
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

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14823
    syndrome 4218
      EEC syndrome 1
        ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
Path 2
Term Annotations click to browse term
  disease 14823
    Developmental Diseases 7637
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6675
        Congenital Abnormalities 3149
          Musculoskeletal Abnormalities 1191
            Craniofacial Abnormalities 949
              Maxillofacial Abnormalities 199
                Jaw Abnormalities 196
                  orofacial cleft 108
                    cleft lip 50
                      EEC syndrome 1
                        ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 3 1
paths to the root

NHLBI Logo

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