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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: Hypercalciuria (D053565)
Parent Node: Hypocalcemia (D006996)
Parent Node: Hypoparathyroidism (D007011)
..Starting node ..Hypercalciuric Hypocalcemia, Familial (C562783)
Child Nodes:
Sister 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)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	5354
Name:	Hypercalciuric Hypocalcemia, Familial
Definition:
Alternative IDs:
ParentIDs:	MESH:D006996\|MESH:D007011\|MESH:D053565
TreeNumbers:	C18.452.174.509/C562783 \|C18.452.950.509/C562783 \|C19.642.482/C562783 \|C23.888.942.337/C562783
Synonyms:	Hypocalcemia, Autosomal Dominant \|Hypocalcemia, Familial \|Hypoparathyroidism, Autosomal Dominant
Slim Mappings:	Endocrine system disease\|Metabolic disease\|Signs and symptoms
Reference:	MedGen: C562783 MeSH: C562783 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants