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Summary Literature (0)
MIM:215470 - BOUCHER-NEUHAUSER SYNDROME; BNHS

Xenbase Genes: pnpla6

Human Disease Resource: MIM

Mondo Disease Ontology (on Monarch Initiative):
MONDO:0008980 - ataxia-hypogonadism-choroidal dystrophy syndrome

Disease Ontology (DO):
DOID:0111265 - Boucher-Neuhauser syndrome