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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
autosomal dominant proximal renal tubular acidosis 
autosomal recessive proximal renal tubular acidosis 
Bartter syndrome +  
cranioectodermal dysplasia 
cystinuria +  
Dent disease +  
Dent disease is a rare genetic renal tubular disease characterized by manifestations of proximal tubule dysfunction.
EAST syndrome 
familial juvenile hyperuricemic nephropathy type 2 
familial primary hypomagnesemia +  
familial renal glucosuria 
Fanconi renotubular syndrome +  
Gitelman syndrome 
hereditary renal hypouricemia +  
hyperuricemia-pulmonary hypertension-renal failure-alkalosis syndrome 
inherited Fanconi renotubular syndrome +  
Jeune syndrome +  
Liddle syndrome +  
mitochondrial DNA depletion syndrome, hepatocerebrorenal form 
nephrogenic diabetes insipidus +  
nephrogenic diabetes insipidus-intracranial calcification syndrome 
nephrogenic syndrome of inappropriate antidiuresis 
nephronophthisis +  
oculocerebrorenal syndrome 
pseudohypoaldosteronism +  
pseudohypoaldosteronism type 1 +  
pseudohypoparathyroidism +  
psychomotor regression-oculomotor apraxia-movement disorder-nephropathy syndrome 
renal hypomagnesemia 3 
renal tubular acidosis +  
renal tubular acidosis, distal, 3, with or without sensorineural hearing loss 
RHYNS syndrome 
Senior-Boichis syndrome +  
Senior-Loken syndrome +  

Synonyms
Exact Synonyms: Dent syndrome ;   Dent's disease ;   X-linked recessive hypercalciuric hypophosphatemic rickets ;   X-linked recessive hypophosphatemic rickets ;   X-linked recessive nephrolithiasis ;   low-molecular-weight proteinuria with hypercalciuria and nephrocalcinosis ;   renal Fanconi syndrome with nephrocalcinosis and renal stones
Narrow Synonyms: Dent disease 1 ;   Dent disease 2
Related Synonyms: Dents disease
Alternate IDs: MONDO:0015612
Xrefs: DOID:0050699 ;   GARD:13105 ;   MEDGEN:168056 ;   MESH:D057973 ;   MIM:PS300009 ;   MedDRA:10069199 ;   NCI:C123260 ;   NORD:1040 ;   ORDO:1652 ;   SCTID:444645005
Definition Sources: Orphanet:1652

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