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Experimental Factor Ontology
Last uploaded:
January 16, 2025
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| Preferred Name | inborn disorder of purine or pyrimidine metabolism | |
| Synonyms |
disorder of purine or pyrimidine metabolism purine-pyrimidine metabolic disorder inborn errors of purine-pyrimidine metabolism inborn purine-pyrimidine metabolic disorder |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019254 |
|
| closeMatch | ||
| database_cross_reference |
MESH:D011686 MEDGEN:48263 Orphanet:79224 UMLS:C0034139 MedDRA:10037546 DOID:653 GARD:18980 ICD9:277.2
|
|
| disease disrupts | ||
| exactMatch |
http://identifiers.org/mesh/D011686 http://purl.obolibrary.org/obo/DOID_653 http://www.orpha.net/ORDO/Orphanet_79224 |
|
| has_exact_synonym |
inborn errors of purine-pyrimidine metabolism inborn purine-pyrimidine metabolic disorder
|
|
| has_related_synonym |
disorder of purine or pyrimidine metabolism purine-pyrimidine metabolic disorder
|
|
| id |
MONDO:0019254
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo#rare http://purl.obolibrary.org/obo/mondo#gard_rare http://purl.obolibrary.org/obo/mondo#disease_grouping http://purl.obolibrary.org/obo/mondo#ordo_group_of_disorders |
|
| label |
inborn disorder of purine or pyrimidine metabolism
|
|
| notation |
MONDO:0019254
|
|
| preferred label |
inborn disorder of purine or pyrimidine metabolism
|
|
| prefLabel |
inborn disorder of purine or pyrimidine metabolism
|
|
| subClassOf |
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