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Summary Literature (0)
DOID:0050812 - spondyloepimetaphyseal dysplasia, Pakistani type

Disease Ontology 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.

Synonyms: spondyloepimetaphyseal dysplasia Pakistani type,

Xenbase Genes : papss2

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0019666 - spondyloepimetaphyseal dysplasia, PAPSS2 type


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

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee
Parent(s): autosomal recessive disease (is_a), spondyloepimetaphyseal dysplasia (is_a)