loading...| Preferred Name |
Hartnup Disease |
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| Synonyms |
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|
| Definitions |
An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. |
|
| ID |
http://www.phoc.org.cn/pmo/class/PMO_00038498 |
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| Database_Cross_Reference |
SNOMEDCT_US:80902009 ICD10CM:E72.02 NCI:C84748 MTH:NOCODE DO:DOID:1060 CSP:1849-4235 CHV:0000005805 AOD:0000005741 DXP:U000768 MSH:D006250 MEDCIN:33620 OMIM:608893 MDR:10019165 NDFRT:N0000001414 MTHICD9:270.0 NCI_NICHD:C84748 SNMI:D6-B8400 DXP:NOCODE OMIM:234500 SNM:D-1740 SNOMEDCT_US:124208000 RCD:C3004 |
|
| Definition |
An amino acid metabolic disorder that is caused by abnormalities of the renal tubules and is characterized especially by aminoaciduria involving only monocarboxylic monoamines, a dry red scaly rash, and episodic muscular incoordination due to the effects of the disease on the cerebellum. |
|
| label |
Hartnup Disease |
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| MCID |
MC00005950 |
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| PMOID |
PMO:00038498 |
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| prefixIRI |
pmo:PMO_00038498 |
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| prefLabel |
Hartnup Disease |
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| Synonym |
disease hartnups Hartnup Disorder Neutral aminoacid transp def H DISEASE hartnup disorder Deficiency of tryptophan 2,3-dioxygenase (disorder) Hartnup's disease HND NEUTRAL AA TRANSPORT DEFECT disease hartnup Neutral 1 amino acid transport defect Deficiency of tryptophan oxygenase PELLAGRA-CEREBELLAR ATAXIA-RENAL AMINOACIDURIA SYNDROME neutral amino acid transport defect Transport Disorder, Neutral Amino Acids Deficiency of tryptophan pyrrolase Amino Acid Transport Disorder, Neutral Neutral Amino Acid Transport Disorder hartnup disease TRANSPORT DIS NEUTRAL AA HARTNUP DIS NEUTRAL AA TRANSPORT DIS HART SYNDROME Hartnup disease TRANSPORT DIS NEUTRAL AMINO ACIDS Hartnup Disease [Disease/Finding] Hartnup disorder Deficiency of tryptophan 2,3-dioxygenase Neutral Amino Acid Transport Defect TRYPTOPHAN PYRROLASE DEFICIENCY Neutral 1 amino acid transport defect (disorder) h disease Hartnup disease (diagnosis) HARTNUP DISEASE deficiency of tryptophan oxygenase HARTNUP DISORDER Transport Disorder, Neutral Amino Acid AA TRANSPORT DIS NEUTRAL Neutral amino acid transport defect hart syndrome |
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| Tree Number |
T9.11.1.12.8.16 T9.11.1.6.2.16 T9.8.4.14.8.16 T9.11.1.12.13.2 T9.8.4.14.13.2 T9.21.15.5.17.2.16 T9.24.2.3.18.10.1 T9.8.4.14.5.10.1 T9.19.2.2.3.18.10.1 T9.11.1.12.5.10.1 |
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| subClassOf |
http://www.phoc.org.cn/pmo/class/PMO_00036651 http://www.phoc.org.cn/pmo/class/PMO_00003888 |