Kabuki syndrome

Summary

Kabuki syndrome is a designated intractable/rare disease^[1]. It draws 333 Wikipedia views per month (designated_intractable_rare_disease category, ranking #81 of 201).^[2]

Key Facts

• Kabuki syndrome is credited with the discovery of Norio Niikawa^[3].
• Kabuki syndrome is credited with the discovery of Yoshikazu Kuroki^[4].
• Kabuki syndrome's instance of is recorded as designated intractable/rare disease^[5].
• Kabuki syndrome's instance of is recorded as rare disease^[6].
• Kabuki syndrome's instance of is recorded as class of disease^[7].
• kabuki is named after Kabuki syndrome^[8].
• Kabuki syndrome's subclass of is recorded as syndrome^[9].
• Kabuki syndrome's Commons category is recorded as Kabuki syndrome^[10].
• Kabuki syndrome's MeSH descriptor ID is recorded as C537705^[11].
• Kabuki syndrome's OMIM ID is recorded as 147920^[12].
• Kabuki syndrome's OMIM ID is recorded as 300867^[13].
• Kabuki syndrome's ICD-9 ID is recorded as 759.89^[14].
• Kabuki syndrome's DiseasesDB is recorded as 32161^[15].
• Kabuki syndrome's time of discovery or invention is recorded as +1981-00-00T00:00:00Z^[16].
• Kabuki syndrome's Freebase ID is recorded as /m/03d07n^[17].
• Kabuki syndrome's KEGG ID is recorded as H00570^[18].
• Kabuki syndrome's GeneReviews ID is recorded as NBK62111^[19].
• Kabuki syndrome's Disease Ontology ID is recorded as DOID:0060473^[20].
• Kabuki syndrome's external data available at URL is recorded as http://www.nanbyou.or.jp/entry/4663^[21].
• Kabuki syndrome's Orphanet ID is recorded as 2322^[22].
• Kabuki syndrome's NCI Thesaurus ID is recorded as C124837^[23].
• Kabuki syndrome's health specialty is recorded as medical genetics^[24].
• Kabuki syndrome's genetic association is recorded as KDM6A^[25].
• Kabuki syndrome's genetic association is recorded as KMT2D^[26].
• Kabuki syndrome's exact match is recorded as http://purl.obolibrary.org/obo/DOID_0060473^[27].

Body

Works and Contributions

Credited discoveries include Norio Niikawa^[3], a geneticist^[28], 1942–2022^[29], of Japan^[30], specialised in pediatrics^[31] and Yoshikazu Kuroki^[4].

Why It Matters

Kabuki syndrome draws 333 Wikipedia views per month (designated_intractable_rare_disease category, ranking #81 of 201).^[2] It has Wikipedia articles in 12 language editions, a strong signal of global cultural recognition.^[32] It is known by 6 alternative names across languages and contexts.^[33]