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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:An autosomal recessive disease 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: Autosomal recessive ectodermal dysplasia;   Bustos Simosa Pinto Cisternas syndrome;   CLPED1;   ED4;   Ectodermal dysplasia Margarita island type;   Ectodermal dysplasia type 4;   Ectodermal dysplasia, cleft lip and palate, mental retardation, and syndactyly;   Margarita type of ectodermal dysplasia;   Zlotogora-Ogur syndrome;   Zlotogora-Zilberman-Tenenbaum syndrome;   cleft lip/palate-syndactyly-pili torti syndrome;   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;   RDO:0002389
 alt_id: OMIM:225060
 xref: GARD:375
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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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Path 1
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  disease 14314
    syndrome 4612
      cleft lip-palate-ectodermal dysplasia syndrome 1
Path 2
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  disease 14314
    Developmental Diseases 7236
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6821
        Congenital Abnormalities 3574
          Musculoskeletal Abnormalities 1055
            Craniofacial Abnormalities 852
              Maxillofacial Abnormalities 194
                Jaw Abnormalities 191
                  orofacial cleft 107
                    cleft palate 91
                      cleft lip-palate-ectodermal dysplasia syndrome 1
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