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: Parathyroid Diseases (D010279)
..Starting node ..Hypoparathyroidism (D007011)
Child Nodes:
........22q11 Deletion Syndrome (D058165) 5
........Barakat syndrome (C537907)
........Dahlberg Borer Newcomer syndrome (C535769)
........Hypercalciuric Hypocalcemia, Familial (C562783)
........Hypoparathyroidism familial isolated (C537156)
........Hypoparathyroidism, Autosomal Recessive (C564148)
........Hypoparathyroidism, X-Linked (C562782)
........Hypoparathyroidism-retardation-dysmorphism syndrome (C537157)
........Parathyroid Glands, Agenesis Of (C563238)
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:	5592
Name:	Hypoparathyroidism
Definition:	A condition caused by a deficiency of PARATHYROID HORMONE (or PTH). It is characterized by HYPOCALCEMIA and hyperphosphatemia. Hypocalcemia leads to TETANY. The acquired form is due to removal or injuries to the PARATHYROID GLANDS. The congenital form is due to mutations of genes, such as TBX1; (see DIGEORGE SYNDROME); CASR encoding CALCIUM-SENSING RECEPTOR; or PTH encoding parathyroid hormone.
Alternative IDs:
ParentIDs:	MESH:D010279
TreeNumbers:	C19.642.482
Synonyms:	Hypoparathyroidism, Idiopathic \|Idiopathic Hypoparathyroidism
Slim Mappings:	Endocrine system disease
Reference:	MedGen: D007011 MeSH: D007011 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants