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
G6P translocase deficiency 0009288
Alpha-1,4-glucosidase acid deficiency 0009290
acid maltase deficiency 0009290
glucosidase acid-1,4-alpha deficiency 0009290
lysosomal alpha-1,4-glucosidase deficiency 0009290
glycogen Debrancher deficiency 0009291
hepatic phosphorylase deficiency 0009294
muscle phosphofructokinase deficiency 0009295
Hageman Factor deficiency 0009315
factor 12 deficiency 0009315
factor XII deficiency 0009315
histidine ammonia-lyase deficiency 0009345
cystathionine beta-synthase deficiency 0009352
5,10-alpha-methylenetetrahydro-folate reductase deficiency 0009353
Methylenetetrahydro-folate reductase deficiency 0009353