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ONTOLOGY REPORT - ANNOTATIONS


Term:Skin Creases, Congenital Symmetric Circumferential, 1
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Accession:DOID:9005935 term browser browse the term
Definition:Congenital symmetric circumferential skin creases is characterized by the folding of excess skin, which leads to ringed creases, primarily of the limbs. Affected individuals also exhibit intellectual disability, cleft palate, and dysmorphic features. (OMIM)
Synonyms:narrow_synonym: CSCSC1
 primary_id: OMIM:156610;   RDO:9000391
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Skin Creases, Congenital Symmetric Circumferential, 1 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tubb5 tubulin, beta 5 class I JBrowse link 20 3,422,448 3,426,420 RGD:7240710

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 14759
    syndrome 4210
      Michelin Tire Baby Syndrome 2
        Skin Creases, Congenital Symmetric Circumferential, 1 1
Path 2
Term Annotations click to browse term
  disease 14759
    Developmental Diseases 7628
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6666
        Congenital Abnormalities 3137
          Musculoskeletal Abnormalities 1185
            Craniofacial Abnormalities 945
              Maxillofacial Abnormalities 199
                Jaw Abnormalities 196
                  orofacial cleft 108
                    cleft palate 90
                      Skin Creases, Congenital Symmetric Circumferential, 1 1
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