Disease: Lethal skeletal dysplasia ×
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		0.120 GeneticVariation disease BEFREE Achondrogenesis 1A (ACG1A; OMIM 200600) is an autosomal recessive perinatally lethal skeletal dysplasia comprising intrauterine growth failure, micromelia, minor facial anomalies, deficient ossification of the skull, absent or extremely defective spinal ossification, short beaded ribs, and short deformed long bones with a stellate appearance. 23956106 2013
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		0.120 GeneticVariation disease BEFREE The identification of a mutation affecting GMAP-210 in mice, and then in humans, as the cause of a lethal skeletal dysplasia underscores the value of screening for abnormal phenotypes in model organisms and identifying the causative mutations. 20089971 2010
CUI: C4021626
Disease: Lethal skeletal dysplasia
Lethal skeletal dysplasia 		0.120 Biomarker disease HPO