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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
 related_synonym: CRANIOOSTEOARTHROPATHY;   CURRARINO IDIOPATHIC OSTEOARTHROPATHY;   FAMILIAL IDIOPATHIC OSTEOARTHROPATHY OF CHILDHOOD
 primary_id: OMIM:259100



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:25741868 More... NCBI chr25:24,964,908...24,993,276
Ensembl chr25:24,964,908...24,993,297
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 17775
    syndrome 10014
      primary hypertrophic osteoarthropathy 2
        Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 1
Path 2
Term Annotations click to browse term
  disease 17775
    disease of anatomical entity 15136
      musculoskeletal system disease 7720
        connective tissue disease 5254
          bone disease 3801
            bone inflammation disease 1285
              arthropathy 1265
                primary hypertrophic osteoarthropathy 2
                  Primary Hypertrophic Osteoarthropathy, Autosomal Recessive, 1 1
paths to the root