MONDO_label_synonym Find_IDs Find_Terms Annotation
manager
language -
license -
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
GM2 activator deficiency 0010099
hexosaminidase activator deficiency 0010099
hexosaminidase A deficiency 0010100
hexosaminidase a deficiency 0010100
congenital ADAMTS-13 deficiency 0010122
congenital ADAMTS13 deficiency 0010122
dihydropyrimidine dehydrogenase deficiency 0010130
dihydrouracil dehydrogenase deficiency 0010130
iodide peroxidase deficiency 0010133
thyroid peroxidase deficiency 0010133
iodotyrosine dehalogenase deficiency 0010136
isolated TSH deficiency 0010139
isolated thyrotropin deficiency 0010139
thyroid-stimulating hormone deficiency 0010139
isolated TRF deficiency 0010140