|OBO ID: DOID:0112224|
|Term Name:||chondrodysplasia with joint dislocations gPAPP type||Search 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 IMPAD1 on chromosome 8q12. (2)|
|Ontology:||Human Disease (DOID:0112224)|
|is a type of:||
OTHER chondrodysplasia with joint dislocations gPAPP type PAGES
ZEBRAFISH MODELS No data available
PHENOTYPE No data available
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