loading...| Preferred Name |
renal aminoaciduria |
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| Synonyms |
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| Definitions |
A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved. |
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| ID |
http://purl.obolibrary.org/obo/MONDO_0006944 |
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| label |
renal aminoaciduria |
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| prefixIRI |
MONDO:0006944 |
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| prefLabel |
renal aminoaciduria |
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| textual definition |
A group of inherited kidney disorders characterized by the abnormally elevated levels of amino acids in urine. Genetic mutations of transport proteins result in the defective reabsorption of free amino acids at the proximal renal tubules. Renal aminoaciduria are classified by the specific amino acid or acids involved. |
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| subClassOf |
| Delete | Mapping To | Ontology | Source |
|---|---|---|---|
| http://purl.obolibrary.org/obo/MONDO_0006944 | MONDO | SAME_URI | |
| http://purl.obolibrary.org/obo/MONDO_0006944 | KTAO | SAME_URI | |
| http://www.ebi.ac.uk/efo/EFO_1001149 | EFO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0006944 | MONDO | LOOM | |
| http://www.owl-ontologies.com/NPOntology.owl#DOID_1061 | NATPRO | LOOM | |
| http://www.phoc.org.cn/pmo/class/PMO_00003888 | PMAPP-PMO | LOOM | |
| http://purl.obolibrary.org/obo/MONDO_0006944 | KTAO | LOOM |