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
cobalamin F deficiency 0010183
MAHCF 0010183
cblF defect 0010183
cblF methylmalonic acidemia and homocystinuria 0010183
inherited methylmalonic acidemia and homocystinuria 0010183
methylmalonic aciduria and homocystinuria type cblF 0010183
methylmalonic acidemia and homocystinuria, cblF type 0010183
methylmalonic aciduria and homocystinuria, cblF type 0010183
lysosomal membrane cobalamin transporter deficiency 0010183
cobalamin F defect 0010183
cobalamin F disease 0010183
methylmalonic aciduria due to vitamin B12-release defect 0010183
cobalamin locus f variant 0010183
combined defect in adenosylcobalamin and methylcobalamin synthesis, type cblF 0010183
cobalamin, defect in lysosomal release of 0010183