glycine encephalopathy

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malattia

Risorse esterne

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

soggetto indicato come: Hyperglycinemia, Nonketotic

tipo di relazione: corrispondenza parziale

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

soggetto indicato come: non-ketotic hyperglycinemia

identificativo KEGG
H00191
UMLS CUI
C0268560[1]

tipo di relazione: corrispondenza parziale

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

tipo di relazione: corrispondenza esatta

ICD-11 ID (MMS)
5C50.70

soggetto indicato come: Glycine encephalopathy

identificativo Disease Ontology
DOID:9268[4]
codice 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

no tipo 'e

designated intractable/rare disease[5]
classe di malattia

sottoclasse di

amino acid metabolic disorder[4]

specializzazione sanitaria

neurologia
genetica clinica
endocrinologia

associazione genetica

amminometiltransferasi[6][7][8][9][10]
GCSH[11]
Glicina deidrogenasi[12][13][14][15][16]

dati esterni disponibili su

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

lengua 'e ll'opera o 'ro nome: giapponese

sulla focus list di un progetto Wikimedia

Progetto:Medicina

ICD-9-CM

270.7[1]

identificativo NCI Thesaurus

C84937[3]

corrisponde esattamente

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

Riferimento

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