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Metadata
ID	DOID:0112224
Name	chondrodysplasia with joint dislocations gPAPP type
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. https://pubmed.ncbi.nlm.nih.gov/21549340/, https://pubmed.ncbi.nlm.nih.gov/22887726/
Xrefs	GARD:11009 OMIM:614078 ORDO:280586
Subsets	DO_rare_slim
Synonyms	gPAPP deficiency [EXACT]
Parent Relationships	is_a osteochondrodysplasia is_a autosomal recessive disease