COL10A1, collagen type X alpha 1 chain, 1300

N. diseases: 76; N. variants: 21
Disease: Mucopolysaccharidosis IV ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0026707
Disease: Mucopolysaccharidosis IV
Mucopolysaccharidosis IV 		0.010 Biomarker disease BEFREE Schmid metaphyseal chondrodysplasia (SMCD) is a relatively common, heritable osteochondrodysplasia characterized by short-limbed short stature with normal facies, and generalized metaphyseal dysplasias of the long and short tubular bones. 9067753 1997