preferred_name: metaphyseal dysplasia without hypotrichosis
preferred_name_lc: metaphyseal dysplasia without hypotrichosis
label: CARTILAGE-HAIR HYPOPLASIA-LIKE SKELETAL DYSPLASIA WITHOUT HYPOTRICHOSIS OR IMMUNODEFICIENCY
label_lc: cartilage-hair hypoplasia-like skeletal dysplasia without hypotrichosis or immunodeficiency