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ENAnauxetic Dysplasia 1 (ANXD1)
Alias:
Anauxetic Dysplasia
Spondyloepimetaphyseal Dysplasia, Anauxetic Type
Spondylometaepiphyseal Dysplasia, Menger Type
Spondylometaepiphyseal Dysplasia, Anauxetic Type
Spondyloepimetaphyseal Dysplasia, Menger Type
Dysplasia, Anauxetic, Type 1
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Anauxetic Dysplasia 1, also known as anauxetic dysplasia, is related to metaphyseal dysplasia without hypotrichosis and anauxetic dysplasia 2. An important gene associated with Anauxetic Dysplasia 1 is RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and rRNA processing in the nucleus and cytosol. Affiliated tissues include spinal cord and bone, and related phenotypes are macroglossia and microdontia
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