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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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| Id | http://www.phoc.org.cn/pmo/class/PMO_00036646
http://www.phoc.org.cn/pmo/class/PMO_00036646
|
|---|---|
| Preferred Name | Urea Cycle Disorders, Inborn |
| Definitions |
An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.
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| Type | http://www.w3.org/2002/07/owl#Class |
All Properties
| label |
Urea Cycle Disorders, Inborn
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|---|---|
| prefLabel |
Urea Cycle Disorders, Inborn
|
| Synonym |
6-A5 DISORDERS OF THE UREA CYCLE METABOLISM
Disorder of the urea cycle metabolism, NOS
Inborn Urea Cycle Disorder
inborn urea cycle disorder
urea cycle defect
Disorders, Urea Cycle
Disorder of Urea Cycle Metabolism
Disorder of the urea cycle metabolism
Dis urea cycle metabol
cycle disorders urea
DISORDERS OF THE UREA CYCLE METABOLISM
Disorder, Urea Cycle
Disorder of the urea cycle metabolism (disorder)
disorder of the urea cycle metabolism
Urea Cycle Disorders, Inborn [Disease/Finding]
Disorder of urea cycle
urea cycle disorder
disorder of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
Urea Cycle Metabolism Disorder
Disorders of metabolism of ornithine, citrulline, argininosuccinic acid, arginine and ammonia
Urea Cycle Disorder
disorder of urea cycle metabolism
Urea Cycle Disorders
of urea cycle disorder
Disorders of urea cycle metabolism
Disorder of urea cycle metabolism, unspecified
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|
| Definition |
An amino acid metabolic disorder that involves a deficiency of one of the enzymes in the urea cycle which is responsible for removing ammonia from the blood stream.
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| PMOID |
PMO:00036646
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| MCID |
MC00059924
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| prefixIRI |
pmo:PMO_00036646
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| Database_Cross_Reference |
ICD9CM:270.6
ICD10AM:E72.2
CSP:1849-9321
ICD10:E72.2
DO:DOID:9267
MDR:10013373
SNOMEDCT_US:36444000
NDFRT:N0000181054
ICD10CM:E72.20
SNMI:D6-A5000
NCI_NICHD:C84785
MSH:D056806
MTHICD9:270.6
CHV:0000017387
ICD10CM:E72.2
NCI:C84785
RCD:C306.
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| Tree Number |
T9.21.15.5.17.2.11
T9.8.4.14.6.3
T9.11.1.6.2.11
T9.8.4.14.8.11
T9.11.1.12.6.3
T9.11.1.12.8.11
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| subClassOf | |
| type |
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