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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:0112224 term browser browse the term
Definition:An osteochondrodysplasia characterized by prenatal onset of disproportionate short stature, shortening of the limbs, joint hyperlaxity and/or dislocations, micrognathia, cleft palate, brachydactyly, short metacarpals, supernumerary carpal ossification centers and dysmorphic facial features that has_material_basis_in homozygous or compound heterozygous mutation in the IMPAD1 gene on chromosome 8q12. (DO)
Synonyms:exact_synonym: GPAPP deficiency
 xref: GARD:11009;   MIM:614078;   MONDO:0013561;   ORDO:280586


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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
ISS		 OMIM:614078
ClinVar Annotator: match by term: Chondrodysplasia with joint dislocations, gPAPP type		 OMIM
MouseDO
ClinVar		 PMID:21549340 PMID:21834032 PMID:22887726 PMID:25741868 PMID:28492532 More... NCBI chr 5:17,775,684...17,802,570
Ensembl chr 5:17,772,608...17,802,570 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19050
    Developmental Disease 14522
      bone development disease 2370
        osteochondrodysplasia 867
          chondrodysplasia with joint dislocations gPAPP type 1
Path 2
Term Annotations click to browse term
  disease 19050
    disease of anatomical entity 18384
      musculoskeletal system disease 8479
        connective tissue disease 5951
          bone disease 4402
            bone inflammation disease 1551
              arthropathy 1530
                Joint Instability 48
                  chondrodysplasia with joint dislocations gPAPP type 1
paths to the root