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ONTOLOGY REPORT - ANNOTATIONS


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;   ORDO:3253
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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 8 48,094,233 48,198,499 RGD:7240710
RGD:8554872
RGD:11554173

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  disease 15992
    syndrome 6097
      cleft lip-palate-ectodermal dysplasia syndrome 1
Path 2
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  disease 15992
    disease of anatomical entity 15263
      musculoskeletal system disease 5527
        connective tissue disease 3992
          bone disease 3456
            bone development disease 1253
              dysostosis 316
                synostosis 210
                  syndactyly 43
                    orofacial cleft 7 1
                      cleft lip-palate-ectodermal dysplasia syndrome 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.