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.
A condition chiefly characterized by thickening of the skin of the head and distal extremities, deep folds and furrows of the skin of the forehead, cheeks, and scalp, SEBORRHEA; HYPERHIDROSIS; periostosis of the long bones, digital clubbing, and spadelike enlargement of the hands and feet. It is more prevalent in the male, and is usually first evident during adolescence. Inheritance is primarily autosomal recessive, but an autosomal dominant form exists.
Synonyms:
exact_synonym:
COA; Cranioosteoarthropathy; Digital Clubbing, Isolated Congenital; Hereditary Acropachy; Idiopathic Hypertrophic Osteoarthropathy; Touraine-Solente-Gole syndrome; clubbing of digits; cranioosteoarthropathies; hereditary acropachies; pachydermoperiostosis; pachydermoperiostosis of nail; pachydermoperiostosis syndrome; pachydermoperiostosis, autosomal recessive
ClinVar Annotator: match by term: Cranioosteoarthropathy | ClinVar Annotator: match by term: Isolated congenital digital clubbing CTD Direct Evidence: marker/mechanism
CTD Direct Evidence: marker/mechanism ClinVar Annotator: match by term: PACHYDERMOPERIOSTOSIS, AUTOSOMAL RECESSIVE | ClinVar Annotator: match by term: Pachydermoperiostosis syndrome
ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal dominant | ClinVar Annotator: match by term: SLCO2A1-related condition
ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 | ClinVar Annotator: match by term: PDP, AUTOSOMAL RECESSIVE
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