Disease browser and phenotype portal

Hello! Guest! Please Login or Register! Clinician Mode

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: Hyperparathyroidism (D006961)
..Starting node ..Hyperparathyroidism, Primary (D049950)
Child Nodes:
........Hyperparathyroidism 1 (C564166)
........Hyperparathyroidism 3 (C566450)
........Hyperparathyroidism, Neonatal Self-Limited Primary, With Hypercalciuria (C565496)
........Hyperparathyroidism, Neonatal Severe Primary (C563375)
........Hyperparathyroidism, Primary, Caused By Water Clear Cell Hyperplasia (C563982)
........Hypophosphatemic Rickets And Hyperparathyroidism (C567423)
........Parathyroid Adenomatosis, Familial Cystic (C564165)
Sister Nodes:
..Hyperparathyroidism 2 (C563273)
..Hyperparathyroidism, Primary (D049950) 7
..Hyperparathyroidism, Secondary (D006962) 1
..Nephropathy deafness hyperparathyroidism (C536401)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5446
Name:	Hyperparathyroidism, Primary
Definition:	A condition of abnormally elevated output of PARATHYROID HORMONE due to parathyroid HYPERPLASIA or PARATHYROID NEOPLASMS. It is characterized by the combination of HYPERCALCEMIA, phosphaturia, elevated renal 1,25-DIHYDROXYVITAMIN D3 synthesis, and increased BONE RESORPTION.
Alternative IDs:
ParentIDs:	MESH:D006961
TreeNumbers:	C19.642.355.239
Synonyms:	Hyperparathyroidisms, Primary \|Primary Hyperparathyroidism \|Primary Hyperparathyroidisms
Slim Mappings:	Endocrine system disease
Reference:	MedGen: D049950 MeSH: D049950 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants