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(Q18553504)
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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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No label defined
No description defined
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Statements
instance of
class of disease
0 references
subclass of
inherited metabolic disorder
1 reference
stated in
Disease Ontology
retrieved
15 May 2019
Disease Ontology ID
DOID:0050832
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
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050832
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
0 references
Identifiers
Disease Ontology ID
DOID:0050832
1 reference
stated in
Disease Ontology
retrieved
28 August 2019
Disease Ontology ID
DOID:0050832
ICD-11 ID (Foundation)
771608363
0 references
ICD-11 ID (MMS)
5C55.1
subject named as
Disorders of pyrimidine metabolism
0 references
Mondo ID
MONDO_0019238
0 references
Orphanet ID
79193
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019238
UMLS CUI
C0268127
mapping relation type
exact match
1 reference
stated in
Monarch Disease Ontology release 2018-06-29
retrieved
28 July 2018
Mondo ID
MONDO_0019238
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