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ENAnauxetic Dysplasia 2 (ANXD2)
Alias:
Anxd2
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Anauxetic Dysplasia 2, also known as anxd2, is related to cartilage-hair hypoplasia and spondyloepimetaphyseal dysplasia. An important gene associated with Anauxetic Dysplasia 2 is POP1 (POP1 Homolog, Ribonuclease P/MRP Subunit), and among its related pathways/superpathways are Processing of Capped Intron-Containing Pre-mRNA and tRNA processing. Affiliated tissues include bone, and related phenotypes are short neck and macroglossia
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MALACARDS
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