EXT1, exostosin glycosyltransferase 1, 2131

N. diseases: 205; N. variants: 63
Disease: Abnormality of the skeletal system ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.110 Biomarker disease BEFREE The Langer-Giedion syndrome (tricho-rhino-phalangeal syndrome type II, TRPS II) is characterized by craniofacial dysmorphism and skeletal abnormalities. 7711731 1995
CUI: C4021790
Disease: Abnormality of the skeletal system
Abnormality of the skeletal system 		0.110 Biomarker disease HPO