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Cell Culture Ontology
Last uploaded:
July 23, 2014
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| Preferred Name | inborn disorder of purine metabolism | |
| Synonyms |
disorder of purine metabolism inborn error of purine nucleobase metabolic process inborn purine nucleobase metabolic process disorder rare inborn error of purine nucleobase metabolic process |
|
| Definitions |
An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. |
|
| ID |
http://purl.obolibrary.org/obo/MONDO_0019236 |
|
| database_cross_reference |
Orphanet:79191 icd11.foundation:1958565793 MedDRA:10061476 GARD:18965
|
|
| definition |
An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process.
|
|
| has_exact_synonym |
inborn error of purine nucleobase metabolic process inborn purine nucleobase metabolic process disorder rare inborn error of purine nucleobase metabolic process
|
|
| has_related_synonym |
disorder of purine metabolism
|
|
| id |
MONDO:0019236
|
|
| in_subset |
http://purl.obolibrary.org/obo/mondo/mondo-base#rare http://purl.obolibrary.org/obo/mondo/mondo-base#gard_rare http://purl.obolibrary.org/obo/mondo/mondo-base#ordo_group_of_disorders http://purl.obolibrary.org/obo/mondo/mondo-base#disease_grouping |
|
| label |
inborn disorder of purine metabolism
|
|
| notation |
MONDO:0019236
|
|
| preferred label |
inborn disorder of purine metabolism
|
|
| prefLabel |
inborn disorder of purine metabolism
|
|
| skos_closeMatch | ||
| skos_exactMatch |
http://purl.obolibrary.org/obo/Orphanet_79191 http://purl.obolibrary.org/obo/mondo/sources/icd11foundation/1958565793 |
|
| subClassOf |
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