Phenotypes associated with the disease hyperparathyroidism 2 with jaw tumors (OMIM:145001):
- Renal cortical adenoma (HP:0006735): The presence of an adenoma in the cortex of the kidney. Evidence: IEA. (OMIM:145001)
- Pancreatic adenocarcinoma (HP:0006725): The presence of an adenocarcinoma of the pancreas. Evidence: IEA. (OMIM:145001)
- Hamartoma (HP:0010566): A disordered proliferation of mature tissues that is native to the site of origin, e.g., exostoses, nevi and soft tissue hamartomas. Although most hamartomas are benign, some histologic subtypes, e.g., neuromuscular hamartoma, may proliferate aggressively such as mesenchymal cystic hamartoma, Sclerosing epithelial hamartoma, Sclerosing metanephric hamartoma. Evidence: IEA. (OMIM:145001)
- Hypercalcemia (HP:0003072): The concentration of calcium in the blood circulation is above the upper limit of normal. Evidence: IEA. (OMIM:145001)
- Recurrent pancreatitis (HP:0100027): A recurrent form of pancreatitis. Evidence: IEA. (OMIM:145001)
- Parathyroid carcinoma (HP:0006780): A malignancy of the parathyroid glands. Parathyroid carcinoma usually secretes parathyroid hormone, leading to hyperparathyroidism. Evidence: IEA. (OMIM:145001)
- Hurthle cell thyroid adenoma (HP:0006781): A kind of thyroid adenoma characterized by the presence of oxyphil cells. Evidence: IEA. (OMIM:145001)
- Hyperparathyroidism (HP:0000843): Excessive production of parathyroid hormone (PTH) by the parathyroid glands. Evidence: IEA. (OMIM:145001)
- Nephroblastoma (HP:0002667): The presence of a nephroblastoma, which is a neoplasm of the kidney that primarily affects children. Evidence: IEA. (OMIM:145001)
- Polycystic kidney dysplasia (HP:0000113): The presence of multiple cysts in both kidneys. Evidence: IEA. (OMIM:145001)
- Abnormality of the head (HP:0000234): An abnormality of the head. Evidence: IEA. (OMIM:145001)
- Autosomal dominant inheritance (HP:0000006): A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele. Evidence: IEA. (OMIM:145001)
- Kidney stone (HP:0000787): Kidney stones (calculi) are mineral concretions in the renal calyces and pelvis that are found free or attached to the renal papillae. Evidence: IEA. (OMIM:145001)
- Papillary renal cell carcinoma (HP:0006766): The presence of renal cell carcinoma in the renal papilla. Evidence: IEA. (OMIM:145001)
- Parathyroid adenoma (HP:0002897): A benign tumor of the parathyroid gland that can cause hyperparathyroidism. Evidence: IEA. (OMIM:145001)