MONDO_label_synonym Find_IDs Find_Terms Annotation
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created at 2021-12-20 14:06:07 UTC
updated at 2021-12-22 07:06:57 UTC
PREFIX owl: <http://www.w3.org/2002/07/owl#>
PREFIX rdf: <http://www.w3.org/1999/02/22-rdf-syntax-ns#>
PREFIX rdfs: <http://www.w3.org/2000/01/rdf-schema#>
PREFIX obo: <http://www.geneontology.org/formats/oboInOwl#>
SELECT DISTINCT ?label (SUBSTR(str(?sub),38) AS ?id) WHERE {
?sub rdfs:subClassOf+ <http://purl.obolibrary.org/obo/MONDO_0000001> ;
rdf:type owl:Class .
{ { ?sub rdfs:label ?label }
UNION { ?sub obo:hasBroadSynonym ?label }
UNION { ?sub obo:hasExactSynonym ?label }
UNION { ?sub obo:hasRelatedSynonym ?label }
}
}
110,360 entries
Label
Id
ADTKD-REN 0013128
HNFJ2 0013128
REN-associated FJHN 0013128
FJHN type 2 0013128
early-onset hyperuricemia, Anemia, and progressive kidney failure 0013128
REN-associated kidney disease 0013128
REN-related autosomal dominant tubulointerstitial kidney disease 0013128
hyperuricemic nephropathy, familial juvenile, 2 0013128
hyperuricemic nephropathy, familial juvenile, type 2 0013128
familial juvenile hyperuricemic nephropathy caused by mutation in REN 0013128
familial juvenile hyperuricemic nephropathy type 2 0013128
REN familial juvenile hyperuricemic nephropathy 0013128
REN-associated familial juvenile hyperuricemic nephropathy 0013128
autosomal dominant tubulointerstitial kidney disease due to mutations in REN 0013128