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Summary Literature (0)
MIM:608940 - SPONDYLOMETAPHYSEAL DYSPLASIA WITH CONE-ROD DYSTROPHY; SMDCRD

Xenbase Genes: pcyt1a

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0012160 - spondylometaphyseal dysplasia-cone-rod dystrophy syndrome

Disease Ontology (DO):
DOID:0112300 - spondylometaphyseal dysplasia with cone-rod dystrophy