Developmental disorder-joint hypermobility-skin laxity with or without metabolic abnormalities

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Subtype of: Developmental disorder
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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
developmental disorder-joint hypermobility-skin laxity with or without metabolic abnormalities
MONDO_0009053
ALDH18A1 Unknown
18478038 24767728
Open Targets
All1 Causal0 Unknown1
Related Diseases Diseases that share the most curated genes with Developmental disorder-joint hypermobility-skin laxity with or without metabolic abnormalities.
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De barsy syndrome 1 shared geneALDH18A1 Related via 1 shared gene including ALDH18A1. P5CS deficiency 1 shared geneALDH18A1 Related via 1 shared gene including ALDH18A1. Cutis laxa, corneal clouding, and mental retardation 1 shared geneALDH18A1 Related via 1 shared gene including ALDH18A1. Cutis laxa, autosomal recessive, 3a 1 shared geneALDH18A1 Related via 1 shared gene including ALDH18A1. Cutis laxa, autosomal dominant 3 1 shared geneALDH18A1 Related via 1 shared gene including ALDH18A1.