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PMO Precision Medicine Ontology
Last uploaded:
December 16, 2020
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Preferred Name | Fanconi Syndrome | |
Synonyms |
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Definitions |
A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting. |
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ID |
http://www.phoc.org.cn/pmo/class/PMO_00037563 |
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Database_Cross_Reference |
SNMI:D6-98196 CHV:0000004892 DXP:U000631 MTH:NOCODE MSH:D005198 NCI_NCI-GLOSS:CDR0000044357 DO:DOID:1062 SNMI:D6-B5310 NCI_NICHD:C3034 NDFRT:N0000001208 MEDCIN:30688 MDR:10037081 SNOMEDCT_US:40488004 MDR:10016219 CCPSS:0011110 OMIM:MTHU006718 AOD:0000005739 JABL:611 NCI:C3034
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Definition |
A renal tubular transport disease of the proximal renal tubes characterized by glucosuria, phosphaturia, generalized aminoaciduria and HCO3 wasting.
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label |
Fanconi Syndrome
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MCID |
MC00004960
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PMOID |
PMO:00037563
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prefixIRI |
pmo:PMO_00037563
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prefLabel |
Fanconi Syndrome
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Synonym |
Fanconi Syndrome [Disease/Finding] Infantile nephropathic cystinosis adult Fanconi syndrome FANCONI SYNDROME Lignac-Fanconi syndrome fanconis syndrome Fanconi syndrome adult Fanconi Anemia nephropathic cystinosis Lignac-Fanconi Syndrome Fanconi syndrome (diagnosis) Proximal Renal Tubular Dysfunction Congenital Fanconi syndrome Fanconi syndrome (disorder) Fanconi syndrome, NOS Nephropathic cystinosis Fanconi-de-Toni syndrome Fanconi-de Toni syndrome Syndrome, Fanconi fanconi syndrome deToni Fanconi syndrome De Toni-Fanconi syndrome Fanconi's syndrome Proximal renal tubular dysfunction
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Tree Number |
T9.11.1.12.5.5 T9.8.4.14.5.5 T9.19.2.2.3.18.5 T9.24.2.3.18.5
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subClassOf |
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