About: Kabuki syndrome

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rare disease

Attributes	Values
rdf:type	Item
description	Krankheit (de) хвороба (uk) مرض من الأمراض (ar) rare disease (en) Tıbbî Durum (tr) maladie congénitale (fr) rzadki, genetycznie uwarunkowany zespół wad wrodzonych związany z niepełnosprawnością intelektualną. (pl) 常染色体優性遺伝の遺伝疾患 (ja) insieme di sintomi e segni caratterizzanti una malformazione congenita dell'individuo (it)
exact match	wds:Q1538227-07681011-786B-4684-B7EB-31E98E82CB95 wds:Q1538227-8A684DB5-B322-48F7-A654-C20C388655A3 wds:Q1538227-F88CB562-EB52-4965-9487-553DB8272F83
exact match	http://purl.obolibrary.org/obo/DOID_0060473 http://identifiers.org/doid/DOID:0060473 http://www.orpha.net/ORDO/Orphanet_2322
health specialty	wds:Q1538227-041C9866-DCDC-41E5-89A8-8E7135BADFBD
Mondo ID	wds:Q1538227-37D0DCD5-92AF-4641-B297-2B7C07357EB8
DiseasesDB	wds:q1538227-3CADFE01-2255-43AF-8A34-C37E7C2FBA94
Disease Ontology ID	wds:Q1538227-8BE84E4E-996E-411E-98E8-5EF8E3C94585
Mondo ID	http://purl.obolibrary.org/obo/MONDO_0016512
Disease Ontology ID	http://purl.obolibrary.org/obo/DOID_DOID:0060473
health specialty	medical genetics
Mondo ID	MONDO_0016512
DiseasesDB	32161
Disease Ontology ID	DOID:0060473
rdfs:label	Kabuki heilkenni (is) Kabuki sendromu (tr) Kabuki syndrome (en) Kabuki syndrome (rup) Kabuki-Syndrom (de) Kabukijev sindrom (bs) Kabukisyndroom (fy) Kabukisyndroom (nl) Síndrome de Kabuki (es) Zespół Kabuki (pl) sindrome Kabuki (it) syndrome Kabuki (fr) Кабуки-синдром (mk) синдром Кабуки (ru) תסמונת קבוקי (he) متلازمة كابوكي (ar) 歌舞伎化妆综合征 (zh) 歌舞伎症候群 (ja) 歌舞伎面谱综合征 (zh-cn)
skos:prefLabel	Kabuki heilkenni (is) Kabuki sendromu (tr) Kabuki syndrome (en) Kabuki syndrome (rup) Kabuki-Syndrom (de) Kabukijev sindrom (bs) Kabukisyndroom (fy) Kabukisyndroom (nl) Síndrome de Kabuki (es) Zespół Kabuki (pl) sindrome Kabuki (it) syndrome Kabuki (fr) Кабуки-синдром (mk) синдром Кабуки (ru) תסמונת קבוקי (he) متلازمة كابوكي (ar) 歌舞伎化妆综合征 (zh) 歌舞伎症候群 (ja) 歌舞伎面谱综合征 (zh-cn)
name	Kabuki heilkenni (is) Kabuki sendromu (tr) Kabuki syndrome (en) Kabuki syndrome (rup) Kabuki-Syndrom (de) Kabukijev sindrom (bs) Kabukisyndroom (fy) Kabukisyndroom (nl) Síndrome de Kabuki (es) Zespół Kabuki (pl) sindrome Kabuki (it) syndrome Kabuki (fr) Кабуки-синдром (mk) синдром Кабуки (ru) תסמונת קבוקי (he) متلازمة كابوكي (ar) 歌舞伎化妆综合征 (zh) 歌舞伎症候群 (ja) 歌舞伎面谱综合征 (zh-cn)
Freebase ID	wds:Q1538227-0A4111AD-4ED8-4DE4-8195-70515A2E1212
Freebase ID	/m/03d07n
instance of	wds:Q1538227-849B32F9-DCCA-42A0-AEFD-177F80733E6D wds:Q1538227-9B73F07A-73D4-4B0C-A18C-8241B68C1037 wds:Q1538227-FC5F40E5-57FA-466F-B86E-1E6EC0145EB6
discoverer or inventor	wds:Q1538227-8687bef7-4bd2-5201-b677-07b1e641b80b
instance of	class of disease rare disease designated intractable/rare disease
discoverer or inventor	Norio Niikawa
subclass of	wds:Q1538227-3C0D784C-7173-48C5-A697-DE71F0902251
subclass of	syndrome
KEGG ID	wds:Q1538227-27BB58DD-0EF4-4107-96FD-EAE716FE3D85
KEGG ID	http://www.kegg.jp/entry/H00570
KEGG ID	H00570
UniProt disease ID	wds:Q1538227-6b354c88-4a09-328e-33d5-1807aee656ab
Orphanet ID	wds:Q1538227-3E3325BD-2FEA-4933-992E-E31DAA3744AB

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