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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: Autosomal Recessive Pachydermoperiostosis;   COA;   Clubbing of Digits;   Cranioosteoarthropathies;   Cranioosteoarthropathy;   Digital Clubbing, Isolated Congenital;   Hereditary Acropachies;   Hereditary Acropachy;   Idiopathic Hypertrophic Osteoarthropathy;   Pachydermoperiostosis;   Pachydermoperiostosis of nail;   Touraine Solente Gole syndrome;   pachydermoperiostosis syndrome
 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: Pachydermoperiostosis syndrome
ClinVar Annotator: match by OMIM:119900
CTD Direct Evidence: marker/mechanism
OMIM
ClinVar
CTD
PMID:9402870 PMID:17551338 PMID:18500342 PMID:18805827 PMID:19306095 PMID:25526675 PMID:28492532 PMID:32282352 NCBI chr16:33,986,265...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 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 ClinVar
OMIM
PMID:16283874 PMID:22197487 PMID:22553128 PMID:23509104 PMID:24153155 PMID:24838973 PMID:25741868 PMID:27134495 PMID:33852188 NCBI 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:28492532 PMID:32282352 NCBI chr16:33,986,265...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: Primary hypertrophic osteoarthropathy, autosomal recessive 2
ClinVar Annotator: match by OMIM:614441
OMIM
ClinVar
PMID:16199547 PMID:16283874 PMID:22197487 PMID:22331663 PMID:22553128 PMID:22906430 PMID:23509104 PMID:24153155 PMID:24838973 PMID:24929850 PMID:25741868 PMID:25810087 PMID:26072672 PMID:26539716 PMID:27134495 PMID:28492532 PMID:33852188 NCBI chr 8:103,588,916...103,672,546 JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17160
    syndrome 8040
      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 17160
    disease of anatomical entity 16500
      Skin and Connective Tissue Diseases 5820
        connective tissue disease 4429
          bone disease 3111
            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