Experimental Factor Ontology

Last uploaded: November 18, 2024
Preferred Name

inherited kidney disorder
Synonyms

inherited renal disorder

genetic renal disease

nephrogenetic disorder

inherited kidney disease

Definitions

A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system.

ID

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

creator

https://orcid.org/0000-0001-5208-3432

definition

A heterogeneous group of genetic conditions, with Mendelian (autosomal dominant, recessive, or X-linked) or chromosomal etiology that are characterized by abnormalities in the kidney or urinary system.

has_exact_synonym

inherited renal disorder

genetic renal disease

nephrogenetic disorder

inherited kidney disease

IAO_0000233

https://github.com/monarch-initiative/mondo/issues/5681

id

MONDO:0100191

in_subset

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

label

inherited kidney disorder

notation

MONDO:0100191

preferred label

inherited kidney disorder

prefLabel

inherited kidney disorder

subClassOf

http://www.ebi.ac.uk/efo/EFO_0000508

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

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