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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

Disease Browser
Parent Node: Parathyroid Diseases (D010279)
..Starting node ..Hyperparathyroidism (D006961)
Child Nodes:
........Hyperparathyroidism 2 (C563273)
........Hyperparathyroidism, Primary (D049950) 7
........Hyperparathyroidism, Secondary (D006962) 1
........Nephropathy deafness hyperparathyroidism (C536401)
Sister Nodes:
..Hyperparathyroidism (D006961) 12
..Hypoparathyroidism (D007011) 14
..Parathyroid Neoplasms (D010282) 1
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5440
Name:	Hyperparathyroidism
Definition:	A condition of abnormally elevated output of PARATHYROID HORMONE (or PTH) triggering responses that increase blood CALCIUM. It is characterized by HYPERCALCEMIA and BONE RESORPTION, eventually leading to bone diseases. PRIMARY HYPERPARATHYROIDISM is caused by parathyroid HYPERPLASIA or PARATHYROID NEOPLASMS. SECONDARY HYPERPARATHYROIDISM is increased PTH secretion in response to HYPOCALCEMIA, usually caused by chronic KIDNEY DISEASES.
Alternative IDs:
ParentIDs:	MESH:D010279
TreeNumbers:	C19.642.355
Synonyms:
Slim Mappings:	Endocrine system disease
Reference:	MedGen: D006961 MeSH: D006961 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants