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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease exophthalmos
Comorbidity C0265294|metaphyseal dysplasia
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PubMedID- 22090712 Craniometaphyseal dysplasia manifests with macrocephaly, proptosis, hypocalcemia, hyperparathyroidism, wide metaphyses, and sensorineural deafness.

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