enlarged parathyroid gland Gene Set

Dataset MPO Gene-Phenotype Associations
Category disease or phenotype associations
Type phenotype
Description increased size of the two small, paired endocrine glands, usually found embedded in the connective tissue capsule on the posterior surface of the thyroid gland; they secrete parathyroid hormone (PTH) that regulates calcium and phosphorous metabolism (Mammalian Phenotype Ontology, MP_0003112)
External Link http://www.informatics.jax.org/searches/Phat.cgi?id=MP:0003112
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5 gene mutations causing the enlarged parathyroid gland phenotype in transgenic mice from the MPO Gene-Phenotype Associations dataset.

Symbol Name
CASR calcium-sensing receptor
MEN1 multiple endocrine neoplasia I
PTH parathyroid hormone
PTHLH parathyroid hormone-like hormone
VDR vitamin D (1,25- dihydroxyvitamin D3) receptor