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Ontology Browser

Term:
low molecular weight proteinuria with hypercalciuric nephrocalcinosis (DOID:0111815)
Annotations: Rat: (1) Mouse: (1) Human: (1) Chinchilla: (1) Bonobo: (1) Dog: (1) Squirrel: (1) Pig: (1)
Parent Terms Term With Siblings Child Terms
Dent disease +     
Hypercalciuria +     
nephrocalcinosis +     
amelogenesis imperfecta type 1G  
autosomal dominant hypocalcemia 1 +   
Dent Disease 1  
Dent Disease 2  
Distal Renal Tubular Acidosis, with Nephrocalcinosis, Short Stature, Mental Retardation, and Distinctive Facies 
hereditary hypophosphatemic rickets with hypercalciuria  
Hypercalciuria, Absorptive, 1 
Hypercalciuria, Absorptive, 2  
Hypercalciuria, Childhood Idiopathic  
low molecular weight proteinuria with hypercalciuric nephrocalcinosis  
A Dent disease characterized by elevted levels of low molecular weight proteins in the urine, hypercalciuria, and nephrocalcinosis that has_material_basis_in hemizygous or homozygous mutation in CLCN5 on chromosome Xp11.22. (DO)
Manz Syndrome 
midface hypoplasia, hearing impairment, elliptocytosis, and nephrocalcinosis  
SHORT syndrome  

Synonyms
Exact Synonyms: low molecular weight proteinuria with hypercalciuria and nephrocalcinosis
Primary IDs: MESH:C545036
Alternate IDs: OMIM:308990
Definition Sources: https://www.ncbi.nlm.nih.gov/pubmed/9062355 "DO"

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