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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, PMID:12766194, PMID:12939657, PMID:15200513, PMID:15748593, PMID:15983386, PMID:17609671, PMID:18326838, PMID:18626511, PMID:19239083, PMID:19353588, PMID:19676059, PMID:20543567, PMID:21652629, PMID:23355676, PMID:23431748, PMID:23775923, PMID:28492532, PMID:29956718 NCBI chr11:78,234,853...78,456,559
Ensembl chr11:78,234,800...78,456,501
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16058
    syndrome 6996
      Rapp-Hodgkin syndrome 1
Path 2
Term Annotations click to browse term
  disease 16058
    Developmental Diseases 9508
      Congenital, Hereditary, and Neonatal Diseases and Abnormalities 8354
        Congenital Abnormalities 4759
          Musculoskeletal Abnormalities 1759
            Craniofacial Abnormalities 1459
              Maxillofacial Abnormalities 239
                Jaw Abnormalities 228
                  orofacial cleft 125
                    cleft palate 96
                      Rapp-Hodgkin syndrome 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.