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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

OMIM:612847

Synonyms

spondyloepimetaphyseal dysplasia Pakistani type [EXACT]

Parent Relationships

is_a spondyloepimetaphyseal dysplasia

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