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Summary Literature (0)
MIM:271640 - SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES; SEMDJL1

Xenbase Genes: b3galt6

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0010075 - sacral neural crest

Disease Ontology (DO):
DOID:0112198 - spondyloepimetaphyseal dysplasia with joint laxity type 1