Kabuki syndrome

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rare disease

Välised allikad

WikiProjectMed ID	Kabuki syndrome
Microsoft Academic ID	2776672705 2908660315
Genetics Home Reference Conditions ID	kabuki-syndrome
MeSH descriptor ID	C537705^[1]^[2] teema nimetus kujul: Kabuki syndrome mapping relation type: täpne vaste
Mondo ID	MONDO_0016512
Freebase	/m/03d07n^[3]
KEGG ID	H00570
UMLS CUI	C0796004^[2] C0796004^[1] mapping relation type: täpne vaste
GARD rare disease ID	6810^[2]
UniProt disease ID	DI-02865
DiseasesDB	32161
OpenAlex ID	C2776672705^[4]
ICD-10-CM	Q87.0^[1]
OMIM ID	147920^[2] teema nimetus kujul: KABUKI SYNDROME 1 alternatiivne nimi: KABUK1 300867^[2] teema nimetus kujul: KABUKI SYNDROME 2 alternatiivne nimi: KABUK2
ICD-9 ID	759.89
Orphanet ID	2322^[1] mapping relation type: täpne vaste
Disease Ontology ID	DOID:0060473^[5]

designated intractable/rare disease^[6]^[7]

rare disease

class of disease

Norio Niikawa

1981

medical genetics

KDM6A^[8]^[9]

KMT2D^[10]^[11]

teose keel või nime keelsus: jaapani keel

C124837^[2]

C124837^[1]

mapping relation type: täpne vaste

Kabuki syndrome

↑ ^1,0 ^1,1 ^1,2 ^1,3 ^1,4 Monarch Disease Ontology release 2018-06-29, 7. august 2018, MONDO_0016512
↑ ^2,0 ^2,1 ^2,2 ^2,3 ^2,4 ^2,5 Disease Ontology, 28. august 2019, DOID:0060473
↑ Freebase Data Dumps, 28. oktoober 2013
↑ OpenAlex, 26. jaanuar 2022, https://docs.openalex.org/download-snapshot/snapshot-data-format
↑ ^5,0 ^5,1 ^5,2 Disease Ontology, 30. november 2020, DOID:0060473
↑ http://www.nanbyou.or.jp/entry/4663, 6. detsember 2018
↑ ^7,0 ^7,1 https://ddrare.nibiohn.go.jp/, 17. mai 2019
↑ Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome
↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000147050/MONDO_0016512, inferred from an Open Targets association score over 0.7
↑ Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
↑ Open Targets Platform, 24. august 2023, https://platform.opentargets.org/evidence/ENSG00000167548/MONDO_0016512, inferred from an Open Targets association score over 0.7
↑ Identifiers.org, https://registry.identifiers.org/registry/doid