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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1
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Accession:DOID:0060784 term browser browse the term
Definition:An EEC syndrome characterized by autosomal dominant inheritance that has_material basis in variation in the chromosome region 7q11.2-q21.3. (DO)
Synonyms:exact_synonym: EEC;   EEC Syndrome 1;   EEC1
 primary_id: MESH:C565062;   RDO:0013804
 alt_id: OMIM:129900
 xref: ORDO:1896
For additional species annotation, visit the Alliance of Genome Resources.


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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16023
    syndrome 7003
      EEC syndrome 1
        ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0
Path 2
Term Annotations click to browse term
  disease 16023
    Developmental Diseases 9537
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8371
        Congenital Abnormalities 4785
          Musculoskeletal Abnormalities 1777
            Craniofacial Abnormalities 1475
              Maxillofacial Abnormalities 248
                Jaw Abnormalities 236
                  orofacial cleft 131
                    cleft lip 58
                      EEC syndrome 1
                        ectrodactyly, ectodermal dysplasia, and cleft lip-palate syndrome 1 0
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.