RMRP - RNA component of mitochondrial RNA processing endoribonuclease
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Diseases list
- Disease-causing germline mutation(s) in Anauxetic dysplasia

- Disease-causing germline mutation(s) in Cartilage-hair hypoplasia

- Disease-causing germline mutation(s) in Metaphyseal dysplasia without hypotrichosis

- Disease-causing germline mutation(s) in Omenn syndrome

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