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ONTOLOGY REPORT - ANNOTATIONS


Term:Congenital Symmetric Circumferential Skin Creases
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Accession:DOID:9002281 term browser browse the term
Synonyms:exact_synonym: CIRCUMFERENTIAL SKIN CREASES, KUNZE TYPE;   Kunze Riehm syndrome;   Michelin Tire Baby Syndrome;   multiple benign ring-shaped skin creases of limbs
 primary_id: MESH:C537575
 xref: OMIM:PS156610
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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
RGD:8554872
Congenital Symmetric Circumferential Skin Creases 2 term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Mapre2 microtubule-associated protein, RP/EB family, member 2 JBrowse link 18 14,814,149 15,780,290 RGD:7240710
RGD:8554872

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16021
    disease of cellular proliferation 5889
      Hamartoma 136
        Congenital Symmetric Circumferential Skin Creases 2
          Congenital Symmetric Circumferential Skin Creases 1 1
          Congenital Symmetric Circumferential Skin Creases 2 1
Path 2
Term Annotations click to browse term
  disease 16021
    Developmental Diseases 9337
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8165
        Congenital Abnormalities 4509
          Musculoskeletal Abnormalities 1505
            Craniofacial Abnormalities 1238
              Maxillofacial Abnormalities 219
                Jaw Abnormalities 208
                  orofacial cleft 117
                    cleft palate 88
                      Congenital Symmetric Circumferential Skin Creases 2
                        Congenital Symmetric Circumferential Skin Creases 1 1
                        Congenital Symmetric Circumferential Skin Creases 2 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.