Golgi-resident phosphoadenosine phosphate phosphatase deficiency

Synonym(s)
- Chondrodysplasia with joint dislocations, gPAPP type
Type

Disease
External link(s)
- Orphanet
- IEMbase
Gene
- BPNT2 / Bisphosphate Nucleotidase 2
  8q12.1
  OMIM
  GnomAD
  Ensembl
  HGNC
  VMH
  LOVD
Gene product
- Bisphosphate nucleotidase 2
Disease group(s)
- 18.2.3 Disorders of glycosaminoglycan synthesis and O-xylosylation