chondrodysplasia with joint dislocations gPAPP type

Summary

DOID:0112224 - chondrodysplasia with joint dislocations gPAPP type

Disease Ontology 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.

Synonyms: gPAPP deficiency

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: bpnt2

MIM:

MIM:614078 - CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE

MIM:614078 - CHONDRODYSPLASIA WITH JOINT DISLOCATIONS, GPAPP TYPE

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), osteochondrodysplasia (is_a)