Experimental Factor Ontology

Last uploaded: September 16, 2024
Preferred Name

renal tubular transport disease
Synonyms

renal tubular transport, inborn error

kidney tubular transport, inborn error

kidney tubular transport, inborn errors

renal tubular transport errors

disorder of renal absorption

inborn renal tubular transport disorder

renal absorption disease

renal tubular transport disease

Definitions

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

ID

http://www.ebi.ac.uk/efo/EFO_1000647

database_cross_reference

MEDGEN:19728

UMLS:C0035091

MONDO:0006510

MESH:D015499

DOID:447

definition

Genetic defects in the selective or non-selective transport functions of the KIDNEY TUBULES.

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

disease has basis in dysfunction of

http://purl.obolibrary.org/obo/UBERON_0009773

exactMatch

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

http://identifiers.org/medgen/19728

http://identifiers.org/mesh/D015499

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

has_exact_synonym

disorder of renal absorption

inborn renal tubular transport disorder

renal absorption disease

renal tubular transport disease

has_related_synonym

renal tubular transport, inborn error

kidney tubular transport, inborn error

kidney tubular transport, inborn errors

renal tubular transport errors

id

EFO:1000647

in_subset

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

label

renal tubular transport disease

notation

EFO:1000647

preferred label

renal tubular transport disease

prefLabel

renal tubular transport disease

excluded_subClassOf

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

subClassOf

http://www.ebi.ac.uk/efo/EFO_0003086

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