Mondo Disease Ontology

Last uploaded: November 25, 2024
Preferred Name

renal tubular transport disease
Synonyms

kidney tubular transport, inborn errors

renal tubular transport errors

renal tubular transport, inborn error

kidney tubular transport, inborn error

disorder of renal absorption

inborn renal tubular transport disorder

renal absorption disease

Definitions

Genetic defects in the selective or non-selective transport functions of the kidney tubules.

ID

http://purl.obolibrary.org/obo/MONDO_0006510

database_cross_reference

EFO:1000647

MESH:D015499

DOID:447

MEDGEN:19728

UMLS:C0035091

definition

Genetic defects in the selective or non-selective transport functions of the kidney tubules.

has_exact_synonym

disorder of renal absorption

inborn renal tubular transport disorder

renal absorption disease

has_related_synonym

kidney tubular transport, inborn errors

renal tubular transport errors

renal tubular transport, inborn error

kidney tubular transport, inborn error

id

MONDO:0006510

in_subset

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

label

renal tubular transport disease

notation

MONDO:0006510

prefLabel

renal tubular transport disease

skos_exactMatch

http://linkedlifedata.com/resource/umls/id/C0035091

http://identifiers.org/medgen/19728

http://purl.obolibrary.org/obo/EFO_1000647

http://identifiers.org/mesh/D015499

http://purl.obolibrary.org/obo/DOID_447

terms_conformsTo

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

http://purl.obolibrary.org/obo/disrupts_process.yaml

treeView

http://purl.obolibrary.org/obo/MONDO_0005240

excluded subClassOf

http://purl.obolibrary.org/obo/MONDO_0019052

subClassOf

http://purl.obolibrary.org/obo/MONDO_0005240

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