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ENCartilage-Hair Hypoplasia (CHH)
Alias:
Metaphyseal Chondrodysplasia, Mckusick Type
Chh
Autosomal Recessive Metaphyseal Chondrodysplasia
Mckusick Type Metaphyseal Chondrodysplasia
Mckusick's Metaphyseal Chondrodysplasia Syndrome
Metaphyseal Chondrodysplasia, Recessive Type
Cartilage-Hair Syndrome
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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 Assembly of the pre-replicative complex. Affiliated tissues include bone and skin, and related phenotypes are failure to thrive and eeg abnormality
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