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 ..Dent disease ()
Child Nodes:
........Dent disease type 1 ()
........Dent disease type 2 ()
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:	15612
Name:	Dent disease
Definition:	Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:	Dent disease 1; Dent disease 2; Dent syndrome; Dent's disease; Dents disease; low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis; renal Fanconi syndrome with nephrocalcinosis and renal stones; X-linked recessive hypercalciuric hypophosphatemic rickets; X-linked recessive hypop
Slim Mappings:
Reference:	MedGen: MeSH: OMIM: MSeqDR : Genes:
Phenotypes
Disease Causing ClinVar Variants
MSeqDR Portal