Coffin-Lowry syndrome
genetic disorder that is X-linked dominant
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Summary
Coffin-Lowry syndrome is a designated intractable/rare disease[1]. It draws 489 Wikipedia views per month (designated intractable rare disease category, ranking #91 of 201).[2]
Key Facts
- Instance of: rare disease[3], class of disease[4]
- Named after: Grange S. Coffin[5], Robert Brian Lowry[6]
- Subclass of: X-linked intellectual disability[7], syndromic obesity[8], rare genetic epilepsy[9], rare genetic bone disease[10], scoliosis[11], X-linked dominant disease[12], developmental defect during embryogenesis[13]
- External data available at URL: http://www.nanbyou.or.jp/entry/4666[14]
- ICD-9-CM: 759.89[15]
- NCI Thesaurus ID: C84643[16]
- Health specialty: medical genetics[17]
- Genetic association: RPS6KA3[18]
- Exact match: http://purl.obolibrary.org/obo/DOID_3783[19], http://identifiers.org/doid/DOID:3783[20], http://www.orpha.net/ORDO/Orphanet_192[21]
- On focus list of Wikimedia project: WikiProject Medicine[22]
Why It Matters
Coffin-Lowry syndrome has Wikipedia articles in 10 language editions, a strong signal of global cultural recognition.[23] It is known by 26 alternative names across languages and contexts.[24]