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
N-terminal acetyltransferase deficiency 0010457
Alpha-galactosidase A deficiency 0010526
alpha galactosidase deficiency 0010526
ceramide trihexosidase deficiency 0010526
arylsulfatase E deficiency 0010555
factor 8 deficiency 0010602
factor VIII deficiency 0010602
factor 9 deficiency 0010604
factor IX deficiency 0010604
glycerol kinase deficiency 0010613
steroid sulfatase deficiency 0010622
CD40 ligand deficiency 0010626
X-linked copper deficiency 0010651
spermine synthase deficiency 0010664
iduronate 2-sulfatase deficiency 0010674