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Summary Literature (1)
MIM:184095 - SPONDYLOEPIPHYSEAL DYSPLASIA, MAROTEAUX TYPE

Xenbase Genes: trpv4

Human Disease Resource: OMIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008473 - spondyloepimetaphyseal dysplasia, Maroteaux type

Disease Ontology (DO):
DOID:0111553 - spondyloepiphyseal dysplasia Maroteaux type