Mondo Disease Ontology

Last uploaded: November 25, 2024
Preferred Name

distal renal tubular acidosis
Synonyms

renal tubular acidosis, distal

Primary Distal Renal Tubular Acidosis

distal renal tubular acidosis

classic RTA

familial distal primary acidosis

renal tubular acidosis type 1

dRTA

distal renal tubular acidosis (disease)

Definitions

Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.

ID

http://purl.obolibrary.org/obo/MONDO_0015827

database_cross_reference

MedDRA:10045224

HP:0008341

NORD:1969

MEDGEN:853429

OMIMPS:179800

Orphanet:18

ICD9:588.89

UMLS:C1704380

GARD:4667

SCTID:236461000

definition

Distal renal tubular acidosis (dRTA) is a disorder of impaired net acid secretion by the distal tubule characterized by hyperchloremic metabolic acidosis. The classic form is often associated with hypokalemia whereas other forms of acquired dRTA may be associated with hypokalemia, hyperkalemia or normokalemia.

has_exact_synonym

Primary Distal Renal Tubular Acidosis

distal renal tubular acidosis

classic RTA

familial distal primary acidosis

renal tubular acidosis type 1

dRTA

distal renal tubular acidosis (disease)

has_related_synonym

renal tubular acidosis, distal

IAO_0000589

distal renal tubular acidosis (disease)

id

MONDO:0015827

in_subset

http://purl.obolibrary.org/obo/mondo/mondo-simple#otar

http://purl.obolibrary.org/obo/mondo/mondo-simple#orphanet_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#ordo_disorder

http://purl.obolibrary.org/obo/mondo/mondo-simple#gard_rare

http://purl.obolibrary.org/obo/mondo/mondo-simple#nord_rare

label

distal renal tubular acidosis

notation

MONDO:0015827

prefLabel

distal renal tubular acidosis

should_conform_to

http://purl.obolibrary.org/obo/mondo/patterns/OMIM_phenotypic_series.yaml

skos_closeMatch

http://identifiers.org/meddra/10045224

skos_exactMatch

http://identifiers.org/medgen/853429

https://omim.org/phenotypicSeries/PS179800

http://linkedlifedata.com/resource/umls/id/C1704380

http://purl.obolibrary.org/obo/Orphanet_18

http://identifiers.org/snomedct/236461000

treeView

http://purl.obolibrary.org/obo/MONDO_0100191

subClassOf

http://purl.obolibrary.org/obo/MONDO_0100191

Delete Subject Author Type Created
No notes to display