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.
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
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: ECTODERMAL DYSPLASIA, ANHIDROTIC, WITH CLEFT LIP/PALATE | ClinVar Annotator: match by term: Ectodermal dysplasia, anhidrotic, with cleft lip/palate | ClinVar Annotator: match by term: Rapp-Hodgkin syndrome