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Summary Literature (0)
MIM:612847 - BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES; BCYM4

Xenbase Genes: papss2

Human Disease Resource: OMIM

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

Disease Ontology (DO):
DOID:0050812 - spondyloepimetaphyseal dysplasia, Pakistani type