loading...| Preferred Name |
Alkaptonuria |
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| Synonyms |
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| Definitions |
An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. |
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| ID |
http://www.phoc.org.cn/pmo/class/PMO_00036641 |
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| Database_Cross_Reference |
MEDCIN:33532 SNM:D-1748 ICD10CM:E70.29 SNOMEDCT_US:360381004 SNOMEDCT_US:190689001 COSTAR:NOCODE AOD:0000005743 MSH:D000474 NDFRT:N0000000357 NCI:C84546 SNOMEDCT_US:360378009 DO:DOID:9270 SNMI:D6-A2180 SNOMEDCT_US:267418001 CHV:0000000903 OMIM:607474 SNOMEDCT_US:24250001 SNOMEDCT_US:124207005 SNOMEDCT_US:367388008 DXP:U000067 CST:URIN ABNORM MTHICD9:270.2 MDR:10001689 DXP:NOCODE RCD:XE116 OMIM:203500 |
|
| Definition |
An amino acid metabolic disorder that involves phenylalanine and tyrosine metabolism with the accumulation of homogentisic acid, a toxic tyrosine byproduct. |
|
| label |
Alkaptonuria |
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| MCID |
MC00000564 |
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| PMOID |
PMO:00036641 |
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| prefixIRI |
pmo:PMO_00036641 |
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| prefLabel |
Alkaptonuria |
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| Synonym |
Alcaptonurias Homogentisicaciduria alkaptonuria Alkaptonuria (disorder) Deficiency of homogentisate 1,2-dioxygenase (disorder) Deficiency of homogentisicase Alkaptonuria (finding) Homogentisate 1,2-dioxygenase deficiency [Ambiguous] alcaptonuria Homogentisate 1,2-dioxygenase deficiency ALKAPTONURIA Deficiency of homogentisate oxygenase HOMOGENTISIC ACID OXIDASE DEFICIENCY Alkaptonuria (disorder) [Ambiguous] Alkaptonuria [Disease/Finding] Homogentisate 1,2-dioxygen def Homogentisate 1,2-dioxygenase deficiency (disorder) Homogentisic Acidura Homogentisic acid oxidase deficiency ALCAPTONURIA alkaptonuria (diagnosis) Alcaptonuria (disorder) Alcaptonuria Deficiency of homogentisate 1,2-dioxygenase Homogentisic Acid Oxidase Deficiency AKU HOMOGENTISICACIDURIA |
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| Tree Number |
T9.11.1.12.6.9 T9.8.4.14.6.9 |
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| subClassOf |