MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, NARP, SANDO
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Parent Node:
expandinherited renal tubular disease (MONDO:0015962)
Parent Node:
expandmitochondrial DNA depletion syndrome, hepatocerebral form (MONDO:0016808)
Parent Node:
expandrare renal tubular disease (MONDO:0019744)
..Starting node
..expandmitochondrial DNA depletion syndrome, hepatocerebrorenal form ()

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 Sister Nodes: 
..expandAlstrom syndrome ()
..expandcranioectodermal dysplasia ()
..expandcystinuria (disease) ()
..expanddominant hypophosphatemia with nephrolithiasis or osteoporosis ()
..expandEAST syndrome ()
..expandfamilial juvenile hyperuricemic nephropathy type 2 ()
..expandfamilial primary hypomagnesemia ()
..expandhereditary renal hypouricemia ()
..expandhyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome ()
..expandhypotonia-cystinuria syndrome type 1 ()
..expandidiopathic inherited hypercalciuria ()
..expandIgG4-related kidney disease ()
..expandJeune syndrome ()
..expandmitochondrial DNA depletion syndrome, hepatocerebrorenal form ()
..expandnephrogenic diabetes insipidus ()
..expandnephrogenic diabetes insipidus-intracranial calcification syndrome ()
..expandnephrogenic syndrome of inappropriate antidiuresis ()
..expandnephronophthisis (disease) ()
..expandoculocerebrorenal syndrome ()
..expandprimary renal tubular acidosis ()
..expandpseudohypoparathyroidism ()
..expandpsychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome ()
..expandrenal tubular transport disease ()
..expandRHYNS syndrome ()
..expandSenior-Boichis syndrome ()
..expandSenior-Loken syndrome ()
..expandtubulointerstitial nephritis and uveitis syndrome ()
   

MONDO is developed by the Monarch Initiative. Human Disease MESH is developed by UMLS.
Further data from MedGen, OMIM,ClinVar, CTD
Term ID:18197
Name:mitochondrial DNA depletion syndrome, hepatocerebrorenal form
Definition:
Alternative IDs:
ParentIDs:
TreeNumbers:
Synonyms:mtDNA depletion syndrome, hepatocerebrorenal form
Slim Mappings:
Reference: MedGen:
MeSH:
OMIM:
MSeqDR LSDB:  
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Phenotypes
Disease Causing ClinVar Variants
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