Human Disease Ontology 123

Last uploaded: September 28, 2023
Preferred Name

calcium oxalate nephrolithiasis

Definitions

A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16.

ID

http://purl.obolibrary.org/obo/DOID_0080652

database_cross_reference

OMIM:167030

definition

A nephrolithiasis that is characterized by characterized by stones composed of calcium oxalate and that has_material_basis_in compound heterozygous mutation in the SLC26A1 gene on chromosome 4p16.

has_obo_namespace

disease_ontology

id

DOID:0080652

label

calcium oxalate nephrolithiasis

notation

DOID:0080652

prefLabel

calcium oxalate nephrolithiasis

subClassOf

http://purl.obolibrary.org/obo/DOID_585

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http://purl.bioontology.org/ontology/OMIM/MTHU026596 Online Mendelian Inheritance in Man LOOM