PMO Precision Medicine Ontology

Last uploaded: December 16, 2020
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Id http://www.phoc.org.cn/pmo/class/PMO_00038497
http://www.phoc.org.cn/pmo/class/PMO_00038497
Preferred Name

Galactosemias
Definitions
A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
Type http://www.w3.org/2002/07/owl#Class

All Properties

label
Galactosemias
prefLabel
Galactosemias
Synonym
Galactose intolerance, NOS
Galactosemia (disorder)
Galactosaemia
Galactosaemia, NOS
GALACTOSE INTOLERANCE
Galactose intolerance
Galactosaemia NOS
Galactosemia NOS (disorder)
Galactosemia, NOS
galactosemias
galactosemia
disorder galactosemia
GALACTOSEMIA
Galactosemias [Disease/Finding]
galactosemia (diagnosis)
Galactosemia
galactosaemia
Galactosemia (disorder) [Ambiguous]
galactose intolerance
Galactosemia NOS
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Definition
A carbohydrate metabolic disorder that involves a defect in galactose metabolism resulting in toxic levels of galactose 1-phosphate in various tissues.
PMOID
PMO:00038497
MCID
MC00005382
prefixIRI
pmo:PMO_00038497
Database_Cross_Reference
NCI_NICHD:C84723
MTH:NOCODE
MSH:D005693
ICD9CM:271.1
AOD:0000005717
LCH:U001900
MDR:10017604
DXP:U000689
LNC:LP56739-3
LCH_NW:sh85052749
SNOMEDCT_US:190747003
HPO:HP:0012024
SNOMEDCT_US:190745006
SNOMEDCT_US:154738008
ICD10CM:E74.21
MDR:10017610
LNC:MTHU021572
CHV:0000005317
RCD:C311.
MDR:10017605
SNM:D-1270
DXP:U001633
SNOMEDCT_US:38177000
OMIM:MTHU012915
SNMI:D6-50500
NCI:C84723
SNOMEDCT_US:267498002
DO:DOID:9870
RCD:C311z
MEDCIN:33546
NDFRT:N0000001303
RCDAE:C311.
CSP:1849-3608
HPO:HP:0004919
RCDAE:C311z
SNOMEDCT_US:190749000
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Tree Number
T9.21.15.5.17.2.8
T9.11.1.6.2.8
T9.11.1.12.15.2
T9.8.4.14.15.2
T9.11.1.12.8.8
T9.8.4.14.8.8
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