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RGD DISEASE ONTOLOGY - ANNOTATIONS

RGD uses the Human Disease Ontology (DO, https://disease-ontology.org/) for disease curation across species. RGD automatically downloads each new release of the ontology on a monthly basis. Some additional terms which are required for RGD's curation purposes but are not currently covered in the official version of DO have been added. As corresponding terms are added to DO, these custom terms are retired and the DO terms substituted in existing annotations and subsequently used for curation.

Term:Rapp-Hodgkin syndrome
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Accession:DOID:0060330 term browser browse the term
Definition:An ectodermal dysplasia 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;   ectodermal dysplasia syndrome, Rapp-Hodgkin type;   ectodermal dysplasia, Rapp-Hodgkin type
 narrow_synonym: OFC8;   nonsyndromic cleft lip with or without cleft palate, 8
 primary_id: MESH:C535289
 alt_id: OMIM:129400
 xref: GARD:5690;   ORDO:3022
For additional species annotation, visit the Alliance of Genome Resources.


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Rapp-Hodgkin syndrome term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Tp63 tumor protein p63 ISO CTD Direct Evidence: marker/mechanism
ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate
OMIM
CTD
ClinVar
PMID:10535733 PMID:10839977 PMID:10886756 PMID:11462173 PMID:12525544 More... NCBI chr11:74,838,858...75,049,764
Ensembl chr11:74,838,859...75,049,398
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17207
    syndrome 8126
      Rapp-Hodgkin syndrome 1
Path 2
Term Annotations click to browse term
  disease 17207
    Developmental Disease 10923
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 9459
        Congenital Abnormalities 5588
          Musculoskeletal Abnormalities 2238
            Craniofacial Abnormalities 1960
              Maxillofacial Abnormalities 242
                Jaw Abnormalities 230
                  orofacial cleft 129
                    cleft palate 95
                      Rapp-Hodgkin syndrome 1
paths to the root