OBO ID: DOID:0112224
Term Name: chondrodysplasia with joint dislocations gPAPP type Search Ontology:
Synonyms:
  • gPAPP deficiency
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 IMPAD1 on chromosome 8q12. (2)
References:
Ontology: Human Disease   (DOID:0112224)
OTHER chondrodysplasia with joint dislocations gPAPP type PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
BPNT2 Chondrodysplasia with joint dislocations, GPAPP type 614078
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None