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
Mannosephosphate isomerase deficiency 0011257
phosphomannose isomerase deficiency 0011257
CDG-Ib 0011257
CDG1B 0011257
MPI-CDG 0011257
CDG 1B 0011257
CDG Ib 0011257
MPI-CDG (CDG-Ib) 0011257
Mpi deficiency 0011257
SLSJ syndrome 0011257
Slsj syndrome 0011257
congenital disorder of glycosylation type 1b 0011257
carbohydrate deficient glycoprotein syndrome type IB 0011257
Saguenay Lac Saint Jean syndrome 0011257
Protein-losing enteropathy-hepatic fibrosis syndrome 0011257