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Ontology Browser
Term:
Parent Terms Term With Siblings Child Terms
Bartter syndrome +  
Dent disease +  
familial renal glucosuria 
Fanconi renotubular syndrome +  
Gitelman syndrome 
Liddle syndrome +  
pseudohypoaldosteronism +  
renal hypomagnesemia 3 
Familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement (FHHN) is a form of familial primary hypomagnesemia (FPH), characterized by recurrent urinary tract infections, nephrolithiasis, bilateral nephrocalcinosis, renal magnesium (Mg) wasting, hypercalciuria and kidney failure.
renal hypomagnesemia 5 with ocular involvement 
renal tubular acidosis +  

Synonyms
Exact Synonyms: CLDN16 familial primary hypomagnesemia ;   CLDN16 primary hypomagnesemia ;   FHHNC without severe ocular involvement ;   HOMG3 ;   familial primary hypomagnesemia caused by mutation in CLDN16 ;   familial primary hypomagnesemia with hypercalciuria and nephrocalcinosis without severe ocular involvement ;   primary hypomagnesemia caused by mutation in CLDN16 ;   renal hypomagnesemia type 3
Related Synonyms: hypercalciuria, childhood, self-limiting ;   hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis ;   hypomagnesemia, familial, with hypercalciuria and nephrocalcinosis hypercalciuria, childhood, self-limiting, included ;   hypomagnesemia, isolated renal ;   hypomagnesemia, primary, due to defect in renal tubular Transport Of magnesium ;   magnesium, defect in renal tubular transport of
Alternate IDs: MONDO:0009550
Xrefs: DOID:0060880 ;   GARD:2906 ;   MEDGEN:120640 ;   MESH:C537153 ;   MIM:248250 ;   ORDO:31043 ;   SCTID:725033008 ;   UMLS:C0268448
Definition Sources: Orphanet:31043

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