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: Kidney Diseases (D007674)
Parent Node: Pituitary Diseases (D010900)
..Starting node ..Diabetes Insipidus (D003919)
Child Nodes:
........Diabetes Insipidus, Nephrogenic (D018500) 1
........Diabetes Insipidus, Neurogenic (D020790) 1
........Dipsogenic Diabetes Insipidus (C548013)
........Gestational Diabetes Insipidus (C548014)
........Schofer Beetz Bohl syndrome (C535949)
........Wolfram Syndrome (D014929) 1
........Wolfram Syndrome, Mitochondrial Form (C564012)
Sister Nodes:
..Diabetes Insipidus (D003919) 10
..Empty Sella Syndrome (D004652) 1
..Hyperpituitarism (D006964) 13
..Hypopituitarism (D007018) 23
..Inappropriate ADH Syndrome (D007177) 1
..Isolated Growth Hormone Deficiency, Type IB (C567564)
..Pituitary Apoplexy (D010899)
..Pituitary Neoplasms (D010911) 5
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	3265
Name:	Diabetes Insipidus
Definition:	A disease that is characterized by frequent urination, excretion of large amounts of dilute URINE, and excessive THIRST. Etiologies of diabetes insipidus include deficiency of antidiuretic hormone (also known as ADH or VASOPRESSIN) secreted by the NEUROHYPOPHYSIS, impaired KIDNEY response to ADH, and impaired hypothalamic regulation of thirst.
Alternative IDs:
ParentIDs:	MESH:D007674\|MESH:D010900
TreeNumbers:	C12.777.419.135 \|C13.351.968.419.135 \|C19.700.159
Synonyms:
Slim Mappings:	Endocrine system disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: D003919 MeSH: D003919 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants