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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, Autosomal Recessive, 1
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Accession:DOID:9000622 term browser browse the term
Synonyms:exact_synonym: PDP, AUTOSOMAL RECESSIVE;   PHO, AUTOSOMAL RECESSIVE;   PHOAR1;   Touraine-Solente-Gole syndrome
 related_synonym: CRANIOOSTEOARTHROPATHY;   CURRARINO IDIOPATHIC OSTEOARTHROPATHY;   FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD
 primary_id: OMIM:259100
 alt_id: RDO:0008429
For additional species annotation, visit the Alliance of Genome Resources.


show annotations for term's descendants           Sort by:
 
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

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
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
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.