SHMARQL

amino acid metabolic disorder

<http://www.wikidata.org/entity/Q18558086>

inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids
rdfs:label
"amino acid metabolic disorder"@en
skos:altLabel
"Amino Acid Metabolism, Inborn Errors"@en
"inborn errors of amino acid metabolism"@en
schema:description
"inherited metabolic disorder that is characterized by impaired synthesis and degradation of amino acids"@en
schema:dateModified "2026-10-24T00:34:12+00:00"^^xsd:dateTime
schema:version 2560166930
wikibase:identifiers 13
15
wikibase:sitelinks 0
wikibase:statements 114
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p:P4229 wd:statement/Q18558086-93A17179-C2DE-41C3-B217-69404AEA47B1
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p:P5270 wd:statement/Q18558086-96952853-D59C-4C4E-AD2C-118A54480AB9
p:P672 wd:statement/Q18558086-28FC603F-2936-4304-833A-0DBB077A10E0
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p:direct-normalized/P486 <http://id.nlm.nih.gov/mesh/D000592>
p:direct-normalized/P5270 <http://purl.obolibrary.org/obo/MONDO_0004736>
p:direct-normalized/P672 <http://id.nlm.nih.gov/mesh/C16.320.565.100>
<http://id.nlm.nih.gov/mesh/C18.452.648.100>
p:direct-normalized/P699 <http://purl.obolibrary.org/obo/DOID_DOID:9252>
wdt:P13204 "hn6qg8tc"
wdt:P14914 "D79062"
wdt:P1550 "79062"
wdt:P1692 "270"
"270.9"
wdt:P1748 "C97090"
wdt:P1995 medical genetics
endocrinology
wdt:P2293 ETFDH
RHO
KYNU
SLC24A5
MMUT
KCNJ11
PDP1
ACAT1
SLC3A1
GCH1
DLAT
SUOX
DTNBP1
MYO5A
ACADVL
AMT
BBS1
BLK
CA5A
CEL
ETFA
FDXR
GRID2
GRM1
HCFC1
HGD
HNF4A
PDX1
LDHB
MAK
MAT1A
ALDH6A1
MOCS1
MTRR
OAT
PRDX1
PAX4
PCCA
PDHB
PKLR
PRODH
ALDH18A1
PRPH2
ROM1
SLC1A1
SLC6A9
SLC10A1
ABCC8
USH2A
KLF11
TJP2
PMPCB
IFT140
AASS
SLC25A13
SLC25A15
TOPORS
GPHN
SNRNP200
ARHGEF18
MLYCD
MMACHC
PHGDH
MMADHC
MECR
LIPT1
MPC1
DHTKD1
LMBRD1
KIZ
DNAJC12
MCCC1
SLC7A14
MCCC2
SUGCT
ARL6
MCEE
RAX2
ISCA2
MMAA
SLC6A19
CERKL
BLOC1S3
PCARE
ADK
TH
ABAT
INS
PRCD
PRPF31
wdt:P279 inherited metabolic disorder
wdt:P2888 <http://identifiers.org/doid/DOID:9252>
<http://purl.obolibrary.org/obo/DOID_9252>
wdt:P2892 "C0002514"
"C0342666"
"C0750905"
wdt:P31 type of disease
wdt:P4229 "E72.9"
wdt:P4317 "5793"
"6770"
wdt:P486 "D000592"
wdt:P5008 WikiProject Medicine
wdt:P5270 "MONDO_0004736"
wdt:P672 "C16.320.565.100"
"C18.452.648.100"
wdt:P699 "DOID:9252"
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data from SPARQL profile: Wikidata