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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hypothyroidism
Comorbidity C0010308|congenital goitre
Sentences 2
PubMedID- 19438905 Molecular analysis of congenital goitres with hypothyroidism caused by defective thyroglobulin synthesis.
PubMedID- 20447071 congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene.

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