inherited metabolic disorder

class of disease including endocrine diseases, nutritional diseases and metabolic diseases
rdfs:label
"inherited metabolic disorder"@en
skos:altLabel
"Inborn Errors of Metabolism"@en
"Inborn error of metabolism"@en
"Inborn errors of metabolism"@en
"Inborn metabolism disorder"@en
"Metabolic hereditary disorder"@en
"Metabolism, Inborn Errors"@en
"congenital metabolic disease"@en
schema:description
"class of disease including endocrine diseases, nutritional diseases and metabolic diseases"@en
schema:dateModified "2026-10-24T00:30:50+00:00"^^xsd:dateTime
schema:version 2560166460
wikibase:identifiers 29
33
wikibase:sitelinks 27
wikibase:statements 139
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p:P7807 wd:statement/Q1758393-D251EB85-256F-4E3F-A4F5-9C712D6E09B2
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p:direct-normalized/P227 <https://d-nb.info/gnd/4218989-5>
p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D008661>
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p:direct-normalized/P6366 <https://makg.org/entity/2779586609>
<https://makg.org/entity/2779646400>
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<http://id.nlm.nih.gov/mesh/C18.452.648>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:655>
wdt:P10283 "C2779646400"
"C2911090574"
wdt:P1036 "571.944"
"614.5939"
"616.39042"
wdt:P11143 "Inborn errors of metabolism"
wdt:P1193 0.00005^^xsd:decimal
wdt:P12086 "Stofwisselingsziekte"
wdt:P1368 "000205881"
wdt:P1417 "science/inborn-error-of-metabolism"
wdt:P14914 "D68367"
wdt:P1550 "68367"
wdt:P1748 "C34816"
wdt:P1995 medical genetics
wdt:P2176 biotin
wdt:P227 "4218989-5"
wdt:P2293 KYNU
GBA
SLC24A5
HAMP
APOB
HFE
PLIN1
GNAS
IDS
DAG1
SDHA
MSH6
LBR
KCNJ11
MVK
NPC1
TRPM6
IDUA
ALPL
SLC25A4
CA5A
COX6B1
COX10
FTL
G6PC1
B4GALT1
GLB1
GM2A
GRIK2
GUSB
IMPA1
PDX1
MAT1A
ND1
ND4
TRNF
TRNH
TRNS1
NDUFA8
NDUFS2
OAT
PEX1
PHKA1
PHKA2
PMS2
POLG
PRODH
ALDH18A1
PRPH2
SMPD1
ABCC8
SURF1
VRK1
EPM2A
SQSTM1
RUSC2
AASS
SLC25A13
RBCK1
AFG3L2
ASCC3
MRPL3
POLG2
EXOSC8
MLYCD
PHGDH
MRM2
EXOSC3
PIGT
MOCOS
QRSL1
DHTKD1
PSENEN
DNAJC12
MCCC1
AARS2
SLC25A19
VPS33A
SUGCT
L2HGDH
COASY
CCDC115
ALG2
NDUFAF6
HGSNAT
SUMF1
BLOC1S3
ADK
ABAT
INS
TRNL1
FH
DGUOK
ATP6
wdt:P279 genetic disease
metabolic disease
rare disease
wdt:P2888 <http://identifiers.org/doid/DOID:655>
<http://purl.obolibrary.org/obo/DOID_655>
wdt:P2892 "C0025521"
"C5680169"
wdt:P31 type of disease
wdt:P3471 "4585"
wdt:P373 "Inborn errors of metabolism"
wdt:P486 "D008661"
wdt:P493 "270"
"279"
wdt:P494 "E70"
"E90"
wdt:P5008 WikiProject Medicine
wdt:P508 "11688"
wdt:P604 "002438"
wdt:P6366 "2779586609"
"2779646400"
wdt:P646 "/m/048fwq"
wdt:P672 "C16.320.565"
"C18.452.648"
wdt:P673 "804757"
wdt:P691 "ph562115"
wdt:P699 "DOID:655"
wdt:P7807 "733825440"
wdt:P910 Category:Metabolic disorders
wdt:P9322 "0322094-dedicne-metabolicke-poruchy"
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data from SPARQL profile: Wikidata