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
AD11 0012344
AD12 0012609
3-Beta-hydroxy-Delta-5-C27-steroid oxidoreductase deficiency 0011906
laminin alpha-2 deficiency 0011925
mannosyltransferase 2 deficiency 0011933
glucosyltransferase 2 deficiency 0011969
congenital heart defects, multiple types, with Cardiac rhythm and conduction disturbances 0013988
neural tube defects, susceptibility to 0008449
heart septal defects, ventricular 0002070
lymphedema-atrial septal defects-facial changes syndrome 0011166
splenogonadal fusion-limb defects-micrognathia syndrome 0008460
distichiasis-congenital heart defects-peripheral vascular anomalies syndrome 0007465
B6 vitamin deficiencies 0004574
vitamin B6 deficiencies 0004574
vitamin A deficiencies 0007016