MSeqDR Mitochondrial disease browser phenotype pathogenic gene and mutation portal

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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

*:HP: HPO terms, ND: NAMDC terms.
Most Studied CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO

Disease Browser
Parent Node: inherited renal tubular disease (MONDO:0015962)
Parent Node: renal tubular transport disease (MONDO:0006510)
..Starting node ..Bartter syndrome ()
Child Nodes:
........Bartter disease type 1 ()
........Bartter disease type 2 ()
........Bartter disease type 3 ()
........Bartter disease type 5 ()
........Bartter syndrome with hypocalcemia ()
........infantile Bartter syndrome with sensorineural deafness ()
Sister Nodes:
..Bartter syndrome ()
..Dent disease ()
..familial renal glucosuria ()
..Fanconi syndrome ()
..Gitelman syndrome ()
..Liddle syndrome ()
..pseudohypoaldosteronism ()
..renal hypomagnesemia 3 ()
..renal tubular acidosis ()
MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

Term ID:	15231
Name:	Bartter syndrome
Definition:	Bartter syndrome is a group of rare renal tubular disease characterized by impaired salt reabsorption in the thick ascending limb of Henle's loop and clinically by the association of hypokalemic alkalosis, hypercalciuria/nephrocalcinosis, increased levels of plasma renin and aldosterone, low blood pressure and vascular resistance to angiotensin II.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	aldosteronism with hyperplasia of the adrenal cortex; Bartter disease; Bartter's syndrome; hypokalemic alkalosis; hypokalemic alkalosis with hypercalciuria; Potassium wasting; renal tubular normotensive hypokalemic alkalosis with hypercalciuria; salt-losing tubular disorder, Henle's loop type; salt-
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal