Disease

McKusick Type Metaphyseal Chondrodysplasia

About the Disease
Cartilage-Hair Hypoplasia, also known as metaphyseal chondrodysplasia, mckusick type, is related to metaphyseal dysplasia without hypotrichosis and anauxetic dysplasia 1. An important gene associated with Cartilage-Hair Hypoplasia is RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease), and among its related pathways/superpathways are RNA Polymerase I Promoter Opening and Gene Silencing by RNA. Affiliated tissues include bone, skin and eye, and related phenotypes are failure to thrive and eeg abnormality

Common Targets
RMRP | POP1

疾病靶点研报
McKusick Type Metaphyseal Chondrodysplasia

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