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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: BPNT2-RELATED CONDITION;   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: BPNT2-related condition | 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 5:22,573,241...22,600,126
Ensembl chr 5:22,570,165...22,600,126 		JBrowse link
Term paths to the root
Path 1
Term Annotations click to browse term
  disease 19167
    Developmental Disease 14720
      bone development disease 2345
        osteochondrodysplasia 839
          chondrodysplasia with joint dislocations gPAPP type 1
Path 2
Term Annotations click to browse term
  disease 19167
    disease of anatomical entity 18473
      musculoskeletal system disease 8492
        connective tissue disease 5948
          bone disease 4398
            bone inflammation disease 1568
              arthropathy 1547
                Joint Instability 47
                  chondrodysplasia with joint dislocations gPAPP type 1
paths to the root