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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:cleft lip-palate-ectodermal dysplasia syndrome
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Accession:DOID:0060773 term browser browse the term
Definition:A syndrome characterized by cleft lip, cleft palate, hypodontia, anodontia, microdontia, syndactyly, palmoplantar hyperkeratosis, onychodysplasia, and sparse hair that has_material_basis_in homozygous mutation in the NECTIN1 gene on chromosome 11q23. (DO)
Synonyms:exact_synonym: Bustos Simosa Pinto Cisternas syndrome;   CLPED1;   ED4;   Ectodermal dysplasia Margarita island type;   Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly;   Margarita type of ectodermal dysplasia;   Zlotogora-Ogur syndrome;   Zlotogora-Zilberman-Tenenbaum syndrome;   autosomal recessive ectodermal dysplasia;   cleft lip/palate-syndactyly-pili torti syndrome;   ectodermal dysplasia type 4;   syndactyly-ectodermal dysplasia-cleft/lip palate
 narrow_synonym: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 7;   ECTODERMAL DYSPLASIA, CLEFT LIP AND PALATE, MENTAL RETARDATION, AND SYNDACTYLY OROFACIAL CLEFT 7;   OFC7
 primary_id: MESH:C536726
 alt_id: OMIM:225060
 xref: GARD:375;   NCI:C122656;   ORDO:3253
For additional species annotation, visit the Alliance of Genome Resources.


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cleft lip-palate-ectodermal dysplasia syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Nectin1 nectin cell adhesion molecule 1 ISO ClinVar Annotator: match by OMIM:225060
CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Cleft lip/palate-ectodermal dysplasia syndrome
OMIM
ClinVar
CTD
PMID:3035184, PMID:10932188, PMID:11559849, PMID:11756979, PMID:12893758, PMID:16195396, PMID:16674562, PMID:17089422, PMID:18223281, PMID:19132250, PMID:19715471, PMID:23560673, PMID:24560896, PMID:28492532 NCBI chr 8:48,094,233...48,198,499
Ensembl chr 8:48,094,673...48,157,305
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16045
    syndrome 6991
      cleft lip-palate-ectodermal dysplasia syndrome 1
Path 2
Term Annotations click to browse term
  disease 16045
    disease of anatomical entity 15292
      musculoskeletal system disease 5737
        connective tissue disease 4096
          bone disease 3526
            bone development disease 1336
              dysostosis 342
                synostosis 229
                  syndactyly 58
                    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.