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: Genetic Diseases, X-Linked (D040181)
Parent Node: Hypoparathyroidism (D007011)
..Starting node ..Parathyroid Glands, Agenesis Of (C563238)
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:	8636
Name:	Parathyroid Glands, Agenesis Of
Definition:
Alternative IDs:
ParentIDs:	MESH:D007011\|MESH:D040181
TreeNumbers:	C16.320.322/C563238 \|C19.642.482/C563238
Synonyms:
Slim Mappings:	Endocrine system disease\|Genetic disease (inborn)
Reference:	MedGen: C563238 MeSH: C563238 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants