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Metadata
ID	DOID:0050812
Name	spondyloepimetaphyseal dysplasia, Pakistani type
Definition	A spondyloepimetaphyseal dysplasia that is characterized by short stature, short and bowed lower limbs, mild brachydactyly, kyphoscoliosis, abnormal gait, enlarged knee joints, precocious osteoarthropathy, and normal intelligence. http://omim.org/entry/612847, http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=93282
Xrefs	MESH:C567551 MIM:612847
Synonyms	spondyloepimetaphyseal dysplasia Pakistani type [EXACT]
Parent Relationships	is_a spondyloepimetaphyseal dysplasia is_a autosomal recessive disease