Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis

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Subtype of: Short stature
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis
MONDO_0032703
SLC10A7 Causal
30082715 31191616 29878199
ClinGen, Open Targets —
All1 Causal1 Unknown0
Related Diseases Diseases that share the most curated genes with Short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis.
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Chondrodysplasia with multiple dislocations and amelogenesis imperfecta 1 shared geneSLC10A7 Related via 1 shared gene including SLC10A7. Headache 1 shared geneSLC10A7 Related via 1 shared gene including SLC10A7. Short stature 1 shared geneSLC10A7 Related via 1 shared gene including SLC10A7. Skeletal dysplasia 1 shared geneSLC10A7 Related via 1 shared gene including SLC10A7. Bone fragility with contractures, arterial rupture, and deafness 1 shared geneSLC10A7 Related via 1 shared gene including SLC10A7.