(Q18553504)

English

pyrimidine metabolic disorder

inherited metabolic disorder involving dysfunction of pyrimidine metabolism

rare inborn error of pyrimidine nucleobase metabolic process
Disorder of pyrimidine metabolism
inborn error of pyrimidine nucleobase metabolic process

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instance of

class of disease

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subclass of

inherited metabolic disorder

1 reference

15 May 2019

inborn errors of purine–pyrimidine metabolism

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0019238

on focus list of Wikimedia project

WikiProject Medicine

0 references

exact match

http://purl.obolibrary.org/obo/DOID_0050832

1 reference

28 August 2019

http://identifiers.org/doid/DOID:0050832

1 reference

stated in

Identifiers.org

reference URL

http://www.ebi.ac.uk/miriam/main/collections/MIR:00000233

http://www.orpha.net/ORDO/Orphanet_79193

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Identifiers

1 reference

28 August 2019

ICD-11 ID (Foundation)

771608363

0 references

ICD-11 ID (MMS)

5C55.1

subject named as

Disorders of pyrimidine metabolism

0 references

0 references

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

28 July 2018

mapping relation type

exact match

1 reference

stated in

Monarch Disease Ontology release 2018-06-29

retrieved

28 July 2018

Mondo ID

MONDO_0019238

(Q18553504)

pyrimidine metabolic disorder

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