Term Name: chondrodysplasia with joint dislocations gPAPP type
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 the IMPAD1 gene on chromosome 8q12.
Ontology: Human Disease [DOID:0112224]   ( DOID:0112224 )

Relationships
is a type of: autosomal recessive disease osteochondrodysplasia