Disease browser and phenotype portal

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MSeqDR-LSDB
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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

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Most Common: Hearing Loss (D034381), Deafness (D003638), Sensorineural HL (D006319), Waardenburg Syndrome, Usher Syndromes

Disease Browser
Parent Node: Renal Tubular Transport, Inborn Errors (D015499)
..Starting node ..Renal Aminoacidurias (D000608)
Child Nodes:
........Cystinuria (D003555) 3
........Dicarboxylicaminoaciduria (C536171)
........Finnish lethal neonatal metabolic syndrome (C537934)
........Hartnup Disease (D006250)
........Histidinuria renal tubular defect (C538321)
........Rowley-Rosenberg syndrome (C535874)
Sister Nodes:
..Acidosis, Renal Tubular (D000141) 11
..Azotemia, Familial (C566233)
..Bartter Syndrome (D001477) 8
..Dent Disease (D057973) 1
..Donnai-Barrow syndrome (C536390)
..Fanconi Syndrome (D005198) 3
..Gitelman Syndrome (D053579) 1
..Glycosuria, Renal (D006030) 1
..Hypomagnesemia 1, Intestinal (C566593)
..Hypomagnesemia 2, renal (C537152)
..Hypomagnesemia 4, Renal (C567127)
..Hypomagnesemia 5, Renal, with Ocular Involvement (C565423)
..Hypomagnesemia primary (C537153)
..Hypomagnesemia, Hypertension, and Hypercholesterolemia, Mitochondrial (C564024)
..Hypophosphatemia, Familial (D007015) 11
..Hypouricemia, Familial Renal, due to Tubular Hypersecretion (C564405)
..Hypouricemia, Hypercalcinuria, and Decreased Bone Density (C565475)
..Hypouricemia, Renal, 2 (C567426)
..Iminoglycinuria (C536285)
..Liddle Syndrome (D056929)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 1 (C567363)
..Nephrolithiasis-Osteoporosis, Hypophosphatemic, 2 (C567362)
..Oculocerebrorenal Syndrome (D009800) 1
..Pseudohypoaldosteronism (D011546) 4
..Renal Aminoacidurias (D000608) 9
..Renal hypouricemia (C537757)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM, CTD

Term ID:	9644
Name:	Renal Aminoacidurias
Definition:	A group of inherited kidney disorders characterized by the abnormally elevated levels of AMINO ACIDS in URINE. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the PROXIMAL RENAL TUBULES. Renal aminoaciduria are classified by the specific amino acid or acids involved.
Alternative IDs:
ParentIDs:	MESH:D015499
TreeNumbers:	C12.777.419.815.885 \|C13.351.968.419.815.885 \|C16.320.565.861.885 \|C18.452.648.861.885
Synonyms:	Aminoaciduria, Renal \|Aminoacidurias, Renal \|Renal Aminoaciduria
Slim Mappings:	Genetic disease (inborn)\|Metabolic disease\|Urogenital disease (female)\|Urogenital disease (male)
Reference:	MedGen: D000608 MeSH: D000608 OMIM: Genes:
Phenotypes
Disease Causing ClinVar Variants