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encéphalopathie glycinique

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

Resous ekstèn

identifiant WikiProjectMed
Glycine encephalopathy
Genetics Home Reference Conditions ID
glycine-encephalopathy
identifiant Medical Subject Headings
D020158[1]

sous le nom: Hyperglycinemia, Nonketotic

lien de concordance: quasi-équivalence

identifiant Monarch Disease Ontology
MONDO_0011612
identifiant Human Phenotype Ontology
HP:0008288[2]
identifiant Encyclopædia Britannica
topic/non-ketotic-hyperglycinemia

sous le nom: non-ketotic hyperglycinemia

identifiant KEGG
H00191
UMLS CUI
C0268560[1]

lien de concordance: quasi-équivalence

C0751748[3][2]
identifiant Genetic and Rare Diseases Information Center
7219[1][3]
UniProt disease ID
DI-02061
identifiant CIM-11 (Fondation)
1491869639
identifiant Héritage mendélien chez l'humain
605899[3]
ICD-10-CM
E72.51[3][1]
E72.5[1]
identifiant Microsoft Academic
2780979581
identifiant Orphanet
407[1]

lien de concordance: équivalence exacte

identifiant CIM-11 (MMS)
5C50.70

sous le nom: Glycine encephalopathy

identifiant de Disease Ontology
DOID:9268[4]
arborescence MeSH
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

se yon

designated intractable/rare disease[5]
classe de maladie

sou-klas

maladie du métabolisme des acides aminés[4]

spécialité médicale

neurologie
génétique médicale
endocrinologie

association génétique

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

site externe de données

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

lang travay la: lang japonè

projet Wikimédia s’intéressant à l'élément

Projet:Médecine

ICD-9-CM

270.7[1]

identifiant NCI Thesaurus

C84937[3]

correspondance exacte

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

Referans

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