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ONTOLOGY REPORT - ANNOTATIONS


Term:Rapp-Hodgkin syndrome
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Accession:DOID:0060330 term browser browse the term
Definition:An autosomal dominant disease characterized by abnormal development of ectodermal tissues including the skin, hair, nails, teeth and sweat glands and anhidrotic ectodermal dysplasia with cleft lip/palate. (DO)
Synonyms:exact_synonym: RHS;   anhidrotic ectodermal dysplasia with cleft lip/palate
 narrow_synonym: CLEFT LIP WITH OR WITHOUT CLEFT PALATE, NONSYNDROMIC, 8;   OFC8
 primary_id: MESH:C535289
 alt_id: OMIM:129400;   RDO:0000308
 xref: GARD:5690;   ORDO:3022
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Rapp-Hodgkin syndrome term browser
Symbol Object Name JBrowse Chr Start Stop Reference
G Tp63 tumor protein p63 JBrowse link 11 78,234,853 78,456,559 RGD:7240710
RGD:11554173

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Path 1
Term Annotations click to browse term
  disease 15590
    syndrome 5131
      Rapp-Hodgkin syndrome 1
Path 2
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  disease 15590
    Developmental Diseases 8723
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 7503
        Congenital Abnormalities 3574
          Musculoskeletal Abnormalities 1294
            Craniofacial Abnormalities 1039
              Maxillofacial Abnormalities 208
                Jaw Abnormalities 205
                  orofacial cleft 115
                    cleft palate 93
                      Rapp-Hodgkin 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.