loading...| Preferred Name | Phenylketonurias | |
| Synonyms |
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|
| Definitions |
An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. |
|
| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036643 |
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| Database_Cross_Reference |
MDR:10034873 NCI_NCI-GLOSS:CDR0000458041 MTH:NOCODE SNMI:D6-A1120 SNOMEDCT_US:190687004 CSP:1849-1234 SNOMEDCT_US:154735006 PSY:39000 SNM:D-1640 ICPC2P:T99023 CST:PHENYLKETONURIA CHV:0000058151 NCI_NICHD:C81315 MSH:D010661 MDR:10034871 LCH_NW:sh85100698 MDR:10035118 AOD:0000005742 ICD9CM:270.1 LNC:LP56980-3 PSY:38230 CHV:0000009618 MDR:10034872 LNC:LA12520-5 MEDCIN:32390 NDFRT:N0000002389 NCI_NCI-GLOSS:CDR0000446806 DXP:U001487 CSP:1849-1177 LCH:U003616 RCD:C301. NCI:C81315 DXP:NOCODE DO:DOID:9281 MDR:10034874 MEDLINEPLUS:1231 MDR:10060404 MTHICD9:270.1 LNC:LA21169-0 |
|
| Definition |
An amino acid metabolic disorder that is characterized by a mutation in the gene for the hepatic enzyme phenylalanine hydroxylase (PAH), rendering it nonfunctional. |
|
| label |
Phenylketonurias |
|
| MCID |
MC00010051 |
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| PMOID |
PMO:00036643 |
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| prefixIRI |
pmo:PMO_00036643 |
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| prefLabel |
Phenylketonurias |
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| Synonym |
PHENYLKETONURIA phenylketonuria (PKU) PKU - Phenylketonuria Phenylketonuria [PKU] PKU (Hereditary Disorder) Phenylketonuria, NOS pku phenylketonuria phenylketouria Phenylalaninaemia Phenylketonurias [Disease/Finding] Phenylketonuria phenylalaninemia Phenylketonuria (disorder) Phenylketouria Phenylketonuria (PKU) Phenylalaninemia maternal phenylketonuria phenylketonurias F��lling's disease phenylketonuria PKU Phenylketonuria - pku PHENYLKETOURIA phenylketonuria (diagnosis) |
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| Tree Number |
T9.11.1.6.2.6 T9.21.15.5.17.2.6 T9.8.4.14.6.8 T9.11.1.12.8.6 T9.8.4.14.8.6 T9.11.1.12.6.8 |
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| subClassOf |