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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:Chondrodysplasia with Joint Dislocations, GPAPP Type
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Accession:DOID:9006326 term browser browse the term
Synonyms:exact_synonym: GPAPP DEFICIENCY
 primary_id: OMIM:614078
 alt_id: RDO:9000230
For additional species annotation, visit the Alliance of Genome Resources.


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Chondrodysplasia with Joint Dislocations, GPAPP Type term browser
Symbol Object Name Evidence Notes Source PubMed Reference(s) RGD Reference(s) Position
G Bpnt2 3'(2'), 5'-bisphosphate nucleotidase 2 ISO ClinVar Annotator: match by OMIM:614078
ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, GPAPP type
OMIM
ClinVar
PMID:21549340, PMID:21834032, PMID:22887726, PMID:28492532 NCBI chr17:90,191,119...90,218,013
Ensembl chr17:90,188,043...90,218,013
Ensembl chr 5:90,188,043...90,218,013
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Term paths to the root
Path 1
Term Annotations click to browse term
  disease 16108
    Developmental Diseases 9509
      bone development disease 1330
        osteochondrodysplasia 435
          Chondrodysplasia with Joint Dislocations, GPAPP Type 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
            bone development disease 1330
              osteochondrodysplasia 435
                Chondrodysplasia with Joint Dislocations, GPAPP Type 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.