"Numerous conditions are included in the Nosology of Genetic Skeletal Disorders: 2023 revision 1:"
"Group 11: metaphyseal dysplasia"
"Group 28: skeletal disorders of parathyroid hormone signalling cascade"
"cartilage-hair hypoplasia (CHH; metaphyseal dysplasia, McKusick type), RMRP-related"
"metaphyseal dysplasia with short stature (CHH-like), NEPRO-related"
"metaphyseal dysplasia with pancreatic insufficiency and cyclic neutropenia (Shwachman-Bodian-Diamond syndrome), SBDS-related"
"metaphyseal dysplasia with pancreatic insufficiency and cyclic neutropenia (SBDS type 2), EFL1-related"
Expected headings
"Classification"
"metaphyseal dysplasia, Schmid type: mild; due to a mutation in type X collagen (COL10A1 gene)"
"cartilage-hair hypoplasia (CHH; metaphyseal dysplasia, McKusick type), RMRP-related"