COL10A1, collagen type X alpha 1 chain, 1300

N. diseases: 76; N. variants: 21
Disease: Short extremities ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0239399
Disease: Short extremities
Short extremities 		0.110 Biomarker phenotype BEFREE The most striking clinical features of Schmid metaphyseal chondrodysplasia which appear within the first 2-3 years of life are: moderate short limbs and short stature, a waddling gait, and increasing shortness of stature with age. 30027601 2018
CUI: C0239399
Disease: Short extremities
Short extremities 		0.110 Biomarker phenotype HPO