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glycine encephalopathy

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amino acid metabolic disorder that involves abnormally high levels of the amino acid glycine in bodily fluids and tissues

Välised allikad

WikiProjectMed ID
Glycine encephalopathy
Genetics Home Reference Conditions ID
glycine-encephalopathy
MeSH descriptor ID
D020158[1]

teema nimetus kujul: Hyperglycinemia, Nonketotic

mapping relation type: close match

Mondo ID
MONDO_0011612
Human Phenotype Ontology ID
HP:0008288[2]
Encyclopædia Britannica Online ID
topic/non-ketotic-hyperglycinemia

teema nimetus kujul: non-ketotic hyperglycinemia

KEGG ID
H00191
UMLS CUI
C0268560[1]

mapping relation type: close match

C0751748[3][2]
GARD rare disease ID
7219[1][3]
UniProt disease ID
DI-02061
ICD-11 (foundation)
1491869639
OMIM ID
605899[3]
ICD-10-CM
E72.51[3][1]
E72.5[1]
Microsoft Academic ID
2780979581
Orphanet ID
407[1]

mapping relation type: täpne vaste

ICD-11 ID (MMS)
5C50.70

teema nimetus kujul: Glycine encephalopathy

Disease Ontology ID
DOID:9268[4]
MeSH tree code
C10.228.140.163.100.375
C16.320.565.100.477
C16.320.565.189.375
C18.452.132.100.375
C18.452.648.100.477
C18.452.648.189.375

üksikjuht nähtusest

designated intractable/rare disease[5]
class of disease

mille alamklass

amino acid metabolic disorder[4]

meditsiiniline eriala

neuroloogia
medical genetics
endokrinoloogia

genetic association

AMT[6][7][8][9][10]
GCSH[11]
GLDC[12][13][14][15][16]

external data available at URL

http://www.nanbyou.or.jp/entry/5440[5]

teose keel või nime keelsus: jaapani keel

Wikimedia projekti fookusnimekiri

Vikipeedia:Vikiprojekt Meditsiin

ICD-9-CM

270.7[1]

NCI Thesaurus ID

C84937[3]

täpne vaste

http://purl.obolibrary.org/obo/DOID_9268[4]
http://identifiers.org/doid/DOID:9268[17]
http://purl.obolibrary.org/obo/HP_0008288[2]

Viited

  1. ↑ 1,0 1,1 1,2 1,3 1,4 1,5 1,6 Monarch Disease Ontology release 2018-06-29, 28. juuli 2018, MONDO_0011612
  2. ↑ 2,0 2,1 2,2 Human Phenotype Ontology release 2018-03-08, 8. oktoober 2018, HP:0008288
  3. ↑ 3,0 3,1 3,2 3,3 3,4 Disease Ontology, 15. mai 2019, DOID:9268
  4. ↑ 4,0 4,1 4,2 Disease Ontology, 29. november 2021, DOID:9268
  5. ↑ 5,0 5,1 https://ddrare.nibiohn.go.jp/, 17. mai 2019
  6. ↑ P48728, 13. august 2019, UniProt
  7. ↑ ClinGen, 4. mai 2020, https://search.clinicalgenome.org/kb/gene-validity/a85e1b07-b975-4c92-b592-7b3e8d35805a--2019-05-24T12:25:25
  8. ↑ ClinGen, 8. detsember 2020, https://search.clinicalgenome.org/kb/gene-validity/a85e1b07-b975-4c92-b592-7b3e8d35805a--2019-05-24T16:00:00
  9. ↑ ClinGen, 25. jaanuar 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a85e1b07-b975-4c92-b592-7b3e8d35805a-2019-05-24T160000.000Z
  10. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000145020/MONDO_0011612, inferred from an Open Targets association score over 0.7
  11. ↑ P23434, 13. august 2019, UniProt
  12. ↑ P23378, 13. august 2019, UniProt
  13. ↑ ClinGen, 4. mai 2020, https://search.clinicalgenome.org/kb/gene-validity/14d991f3-25f3-40c9-aacd-c1a008d9eaea--2018-12-12T17:00:00
  14. ↑ ClinGen, 8. detsember 2020, https://search.clinicalgenome.org/kb/gene-validity/14d991f3-25f3-40c9-aacd-c1a008d9eaea--2019-02-06T17:00:00
  15. ↑ ClinGen, 25. jaanuar 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14d991f3-25f3-40c9-aacd-c1a008d9eaea-2019-02-06T170000.000Z
  16. ↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000178445/MONDO_0011612, inferred from an Open Targets association score over 0.7
  17. ↑ Identifiers.org, https://registry.identifiers.org/registry/doid
Pärit leheküljelt "https://et.wikipedia.org/wiki/Eri:AboutTopic/Q3053945"