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Biological and Environmental Research Ontology
Last uploaded:
December 23, 2022
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| Preferred Name | Fanconi Syndrome | |
| Synonyms |
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| Definitions |
A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients. |
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| ID |
http://purl.obolibrary.org/obo/NCIT_C3034 |
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| ALT_DEFINITION |
A constellation of functional abnormalities including aminoaciduria, glycosuria, phosphaturia, renal tubular acidosis, and hypophosphatemia, resulting from decreased reabsorption caused by proximal renal tubule dysfunction.
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| code |
C3034
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| Contributing_Source |
MedDRA NICHD
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| definition |
A genetic or acquired disorder characterized by impairment of the function of the proximal tubules of the kidney. It results in decreased reabsorption of electrolytes, glucose, amino acids, and other nutrients.
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| in_subset | ||
| label |
Fanconi Syndrome
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| Legacy Concept Name |
Fanconi_Syndrome
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| Maps_To |
Fanconi syndrome
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| Preferred_Name |
Fanconi Syndrome
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| prefixIRI |
NCIT:C3034
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| prefLabel |
Fanconi Syndrome
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| Semantic_Type |
Disease or Syndrome
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| UMLS_CUI |
C0015624
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| subClassOf |
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