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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  disease 14875
    syndrome 4220
      Rapp-Hodgkin syndrome 1
Path 2
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  disease 14875
    Developmental Diseases 7711
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 6750
        Congenital Abnormalities 3150
          Musculoskeletal Abnormalities 1191
            Craniofacial Abnormalities 949
              Maxillofacial Abnormalities 199
                Jaw Abnormalities 196
                  orofacial cleft 108
                    cleft palate 90
                      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.