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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

External resources

WikiProjectMed ID
Glycine encephalopathy
Genetics Home Reference Conditions ID
glycine-encephalopathy
MeSH descriptor ID
D020158[೧]

subject named as: Hyperglycinemia, Nonketotic

mapping relation type: close match

Mondo ID
MONDO_0011612
Human Phenotype Ontology ID
HP:0008288[೨]
Encyclopædia Britannica Online ID
topic/non-ketotic-hyperglycinemia

subject named as: non-ketotic hyperglycinemia

KEGG ID
H00191
UMLS CUI
C0268560[೧]

mapping relation type: close match

C0751748[೩][೨]
GARD rare disease ID
7219[೧][೩]
UniProt disease ID
DI-02061
ICD-11 ID (Foundation)
1491869639
OMIM ID
605899[೩]
ICD-10-CM
E72.51[೩][೧]
E72.5[೧]
Microsoft Academic ID
2780979581
Orphanet ID
407[೧]

mapping relation type: exact match

ICD-11 ID (MMS)
5C50.70

subject named as: Glycine encephalopathy

Disease Ontology ID
DOID:9268[೪]
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

ಉದಾಹರಣೆಗೆ

designated intractable/rare disease[೫]
class of disease

ಉಪವರ್ಗ

amino acid metabolic disorder[೪]

health specialty

ನರವಿಜ್ಞಾನ
medical genetics
ಅಂತಃಸ್ರಾವ ಶಾಸ್ತ್ರ

genetic association

AMT[೬][೭][೮][೯][೧೦]
GCSH[೧೧]
GLDC[೧೨][೧೩][೧೪][೧೫][೧೬]

external data available at URL

http://www.nanbyou.or.jp/entry/5440[೫]

language of work or name: ಜಪಾನಿ ಭಾಷೆ

on focus list of Wikimedia project

WikiProject Medicine

ICD-9-CM

270.7[೧]

NCI Thesaurus ID

C84937[೩]

exact match

http://purl.obolibrary.org/obo/DOID_9268[೪]
http://identifiers.org/doid/DOID:9268[೧೭]
http://purl.obolibrary.org/obo/HP_0008288[೨]

Reference

  1. ↑ ೧.೦ ೧.೧ ೧.೨ ೧.೩ ೧.೪ ೧.೫ ೧.೬ Monarch Disease Ontology release 2018-06-29, ೨೮ ಜುಲೈ 2018, MONDO_0011612
  2. ↑ ೨.೦ ೨.೧ ೨.೨ Human Phenotype Ontology release 2018-03-08, ೮ ಅಕ್ಟೋಬರ್ 2018, HP:0008288
  3. ↑ ೩.೦ ೩.೧ ೩.೨ ೩.೩ ೩.೪ Disease Ontology, ೧೫ ಮೇ 2019, DOID:9268
  4. ↑ ೪.೦ ೪.೧ ೪.೨ Disease Ontology, ೨೯ ನವೆಂಬರ್ 2021, DOID:9268
  5. ↑ ೫.೦ ೫.೧ ೧೭ ಮೇ 2019, https://ddrare.nibiohn.go.jp/
  6. ↑ P48728, ೧೩ ಆಗಸ್ಟ್ 2019, UniProt
  7. ↑ ClinGen, ೪ ಮೇ 2020, https://search.clinicalgenome.org/kb/gene-validity/a85e1b07-b975-4c92-b592-7b3e8d35805a--2019-05-24T12:25:25
  8. ↑ ClinGen, ೮ ಡಿಸೆಂಬರ್ 2020, https://search.clinicalgenome.org/kb/gene-validity/a85e1b07-b975-4c92-b592-7b3e8d35805a--2019-05-24T16:00:00
  9. ↑ ClinGen, ೨೫ ಜನವರಿ 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_a85e1b07-b975-4c92-b592-7b3e8d35805a-2019-05-24T160000.000Z
  10. ↑ Open Targets Platform, ೨೪ ಆಗಸ್ಟ್ 2023, inferred from an Open Targets association score over 0.7, https://platform.opentargets.org/evidence/ENSG00000145020/MONDO_0011612
  11. ↑ P23434, ೧೩ ಆಗಸ್ಟ್ 2019, UniProt
  12. ↑ P23378, ೧೩ ಆಗಸ್ಟ್ 2019, UniProt
  13. ↑ ClinGen, ೪ ಮೇ 2020, https://search.clinicalgenome.org/kb/gene-validity/14d991f3-25f3-40c9-aacd-c1a008d9eaea--2018-12-12T17:00:00
  14. ↑ ClinGen, ೮ ಡಿಸೆಂಬರ್ 2020, https://search.clinicalgenome.org/kb/gene-validity/14d991f3-25f3-40c9-aacd-c1a008d9eaea--2019-02-06T17:00:00
  15. ↑ ClinGen, ೨೫ ಜನವರಿ 2022, https://search.clinicalgenome.org/kb/gene-validity/CGGV:assertion_14d991f3-25f3-40c9-aacd-c1a008d9eaea-2019-02-06T170000.000Z
  16. ↑ Open Targets Platform, ೨೪ ಆಗಸ್ಟ್ 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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