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ENMetaphyseal Dysplasia Without Hypotrichosis (MDWH)
Alias:
Cartilage-Hair Hypoplasia-Like Skeletal Dysplasia Without Hypotrichosis or Immunodeficiency
Cartilage-Hair Hypoplasia Variant, Skeletal Manifestations Only
Dysplasia, Metaphyseal, Without Hypotrichosis
Mdwh
Chhv
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Metaphyseal Dysplasia Without Hypotrichosis, also known as cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency, is related to anauxetic dysplasia 1 and cartilage-hair hypoplasia. An important gene associated with Metaphyseal Dysplasia Without Hypotrichosis is RMRP (RNA Component Of Mitochondrial RNA Processing Endoribonuclease). Affiliated tissues include bone and thyroid, and related phenotypes are short stature and short metacarpal
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MALACARDS
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