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PedAM

Pediatric Disease Annotations & Medicines




Disease dwarfism
Symptom C0263661|skeletal disorder
Sentences 2
PubMedID- 26442109 In humans, an amino acid variation in the same position of the type x collagen protein has been shown to be the cause of schmid metaphyseal chondrodysplasia (smcd), a mild skeletal disorder associated with dwarfism (warman et al., 1993).
PubMedID- 24760772 Human mutations in flnb cause several skeletal disorders associated with dwarfism and early bone fusion.

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