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MIM:612847 - BRACHYOLMIA TYPE 4 WITH MILD EPIPHYSEAL AND METAPHYSEAL CHANGES; BCYM4
Echinobase Genes:
Human Disease Resource: OMIM
DOID:0050812 - spondyloepimetaphyseal dysplasia, Pakistani type |
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DOID:0050812 - spondyloepimetaphyseal dysplasia, Pakistani type |