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Orphanet Rare Disease Ontology
Last uploaded:
July 3, 2024
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| Preferred Name | Proximal renal tubular acidosis | |
| Synonyms |
pRTA Renal tubular acidosis type 2 |
|
| Definitions |
A rare renal tubular disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis. |
|
| ID |
http://www.orpha.net/ORDO/Orphanet_47159 |
|
| alternative_term |
pRTA Renal tubular acidosis type 2
|
|
| definition |
A rare renal tubular disease characterized by impaired ability of the proximal tubule to reabsorb bicarbonate from the glomerular filtrate leading to hyperchloremic metabolic acidosis.
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|
| definition_citation |
Orphanet
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|
| expertlink |
https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=en&Expert=47159 |
|
| has_age_of_onset |
All ages
|
|
| has_inheritance |
Not applicable Autosomal recessive Autosomal dominant
|
|
| hasDbXref |
MedDRA:10037080 ICD-11:GB90.44 ICD-10:N25.8 OMIM:604278 OMIM:179830 UMLS:C0268435
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|
| label |
Proximal renal tubular acidosis
|
|
| notation |
ORPHA:47159
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|
| part_of | ||
| prefixIRI |
ORDO:Orphanet_47159
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|
| prefLabel |
Proximal renal tubular acidosis
|
|
| present_in |
Worldwide AND has_point_prevalence_range : Unknown
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| treeView | ||
| subClassOf |
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