Angelman syndrome
genetic condition in humans
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Summary
Angelman syndrome is a designated intractable/rare disease[1]. It ranks in the top 9% of designated intractable rare disease entities by monthly Wikipedia readership (21,493 views/month).[2]
Key Facts
- Discoverer or inventor: Harry Angelman[3]
- Instance of: developmental defect during embryogenesis[4], rare disease[5], class of disease[6]
- Named after: Harry Angelman[7]
- Subclass of: chromosomal disease[8], genetic syndromic intellectual disability[9], organic brain syndrome[10], chromosomal anomaly with epilepsy as a major feature[11], syndrome[12], disease[13]
- Commons category: Angelman syndrome[14]
- Time of discovery or invention: 1965[15]
- External data available at URL: http://www.nanbyou.or.jp/entry/4771[16]
- ICD-9-CM: 759.89[17]
- NCI Thesaurus ID: C75462[18]
- Health specialty: medical genetics[19], neurology[20]
- Genetic association: UBE3A[21], MECP2[22]
- Exact match: http://purl.obolibrary.org/obo/DOID_1932[23], http://identifiers.org/doid/DOID:1932[24], http://www.orpha.net/ORDO/Orphanet_72[25]
- On focus list of Wikimedia project: WikiProject Medicine[26]
Why It Matters
Angelman syndrome has Wikipedia articles in 25 language editions, a strong signal of global cultural recognition.[27] It is known by 55 alternative names across languages and contexts.[28]