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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:primary hypertrophic osteoarthropathy
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Accession:DOID:14283 term browser browse the term
Definition: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;   Clubbing of Digits;   Cranioosteoarthropathy;   Digital Clubbing, Isolated Congenital;   Hereditary Acropachies;   Hereditary Acropachy;   Idiopathic Hypertrophic Osteoarthropathy;   Touraine Solente Gole syndrome;   cranioosteoarthropathies;   pachydermoperiostosis;   pachydermoperiostosis of nail;   pachydermoperiostosis syndrome;   pachydermoperiostosis, autosomal recessive
 narrow_synonym: CIO;   CURRARINO IDIOPATHIC OSTEOARTHROPATHY;   FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD;   PDP, autosomal recessive;   PHO, autosomal recessive;   primary hypertrophic osteoarthropathy, autosomal recessive
 primary_id: MESH:D010004
 alt_id: OMIM:119900
 xref: ICD10CM:M89.4;   NCI:C85023;   OMIM:PS259100
For additional species annotation, visit the Alliance of Genome Resources.


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primary hypertrophic osteoarthropathy term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO ClinVar Annotator: match by term: Cranioosteoarthropathy | ClinVar Annotator: match by term: Isolated congenital digital clubbing
CTD Direct Evidence: marker/mechanism		 OMIM
ClinVar
CTD		 PMID:9402870 PMID:17551338 PMID:18500342 PMID:18805827 PMID:19306095 More... NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228 		JBrowse link
G Slco2a1 solute carrier organic anion transporter family, member 2a1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:103,588,916...103,672,546
Ensembl chr 8:103,588,916...103,672,546 		JBrowse link
Primary Hypertrophic Osteoarthropathy, Autosomal Dominant term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slco2a1 solute carrier organic anion transporter family, member 2a1 ISO ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal dominant OMIM
ClinVar		 PMID:16283874 PMID:22197487 PMID:22553128 PMID:22906430 PMID:23509104 More... NCBI chr 8:103,588,916...103,672,546
Ensembl chr 8:103,588,916...103,672,546 		JBrowse link
Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Hpgd 15-hydroxyprostaglandin dehydrogenase ISO ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 1 OMIM
ClinVar		 PMID:9402870 PMID:17551338 PMID:18500342 PMID:19306095 PMID:25741868 More... NCBI chr16:33,986,265...34,024,228
Ensembl chr16:33,986,266...34,024,228 		JBrowse link
Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2 term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Slco2a1 solute carrier organic anion transporter family, member 2a1 ISO ClinVar Annotator: match by term: Hypertrophic osteoarthropathy, primary, autosomal recessive, 2 OMIM
ClinVar		 PMID:16283874 PMID:22197487 PMID:22331663 PMID:22553128 PMID:22906430 More... NCBI chr 8:103,588,916...103,672,546
Ensembl chr 8:103,588,916...103,672,546 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 21086
    syndrome 10782
      primary hypertrophic osteoarthropathy 2
        Primary Hypertrophic Osteoarthropathy, Autosomal Dominant 1
        Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 1
        Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2 1
        Reginato Schiapachasse Syndrome 0
Path 2
Term Annotations click to browse term
  disease 21086
    disease of anatomical entity 18146
      musculoskeletal system disease 8193
        connective tissue disease 5724
          bone disease 4226
            bone inflammation disease 1475
              arthropathy 1455
                primary hypertrophic osteoarthropathy 2
                  Primary Hypertrophic Osteoarthropathy, Autosomal Dominant 1
                  Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 1
                  Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2 1
                  Reginato Schiapachasse Syndrome 0
paths to the root