ONTOLOGY REPORT - ANNOTATIONS


Term:Congenital Symmetric Circumferential Skin Creases 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
 alt_id: RDO:9000391
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Congenital Symmetric Circumferential Skin Creases 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

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Path 1
Term Annotations click to browse term
  disease 14926
    syndrome 4730
      Michelin Tire Baby Syndrome 2
        Congenital Symmetric Circumferential Skin Creases 2
          Congenital Symmetric Circumferential Skin Creases 1 1
Path 2
Term Annotations click to browse term
  disease 14926
    Developmental Diseases 7782
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7103
        Congenital Abnormalities 3207
          Musculoskeletal Abnormalities 1198
            Craniofacial Abnormalities 953
              Maxillofacial Abnormalities 202
                Jaw Abnormalities 199
                  orofacial cleft 110
                    cleft palate 90
                      Congenital Symmetric Circumferential Skin Creases 2
                        Congenital Symmetric Circumferential Skin Creases 1 1
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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.