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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hypothyroidism
Symptom C0018021|goitre
Sentences 2
PubMedID- 23776889 Patients with symptoms and signs of hypothyroidism, including goitre, a past bad obstetric history, a history of thyroid disorder or neck surgery, or irradiation, history of other autoimmune illness, a family history of thyroid illness, or residence in an iodine-deplete area may be some of the clinical cues for ordering a repeat tsh.
PubMedID- 20447071 Congenital goitre with hypothyroidism caused by a novel compound heterozygous mutations in the thyroglobulin gene.

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