Eiken skeletal dysplasia

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Pathways column key: KEGG Reactome
Disease Term Disease ID Gene Symbol Classification References Source Pathways
EIKEN SKELETAL DYSPLASIA
C1838779MESH:C564010
PTH1R Unknown — CTD, Disgenet
EIKEN SYNDROME
60000279106MONDO:0010803
PTH1R Causal
15525660 29987841 31297790
ClinVar, GWAS catalog, HPO, Orphanet
All1 Causal1 Unknown1
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