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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;   autosomal dominant pachydermoperiostoses;   autosomal dominant pachydermoperiostosis;   pachydermoperiostosis syndrome
 narrow_synonym: CIO;   CURRARINO IDIOPATHIC OSTEOARTHROPATHY;   FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD;   PDP, autosomal recessive;   PHO, autosomal recessive;   primary hypertrophic osteoarthropathy, autosomal dominant;   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 chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758
JBrowse link
G Slco2a1 solute carrier organic anion transporter family, member 2a1 ISO CTD Direct Evidence: marker/mechanism CTD NCBI chr 8:111,495,443...111,577,320
Ensembl chr 8:111,495,331...111,577,833
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 chr16:37,457,134...37,495,758
Ensembl chr16:37,457,135...37,495,758
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:16283874, PMID:22197487, PMID:22331663, PMID:22553128, PMID:22906430, PMID:24153155, PMID:24929850, PMID:25741868, PMID:28492532 NCBI chr 8:111,495,443...111,577,320
Ensembl chr 8:111,495,331...111,577,833
JBrowse link

Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    syndrome 6992
      primary hypertrophic osteoarthropathy 2
        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 16108
    disease of anatomical entity 15356
      Skin and Connective Tissue Diseases 5474
        connective tissue disease 4073
          bone disease 3528
            primary hypertrophic osteoarthropathy 2
              Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 1
              Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 2 1
              Reginato Schiapachasse Syndrome 0
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.