LEOPARD syndrome
rare autosomal dominant,[3] multisystem disease caused by a mutation in the protein tyrosine phosphatase, non-receptor type 11 gene (PTPN11)
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Summary
LEOPARD syndrome is a rare disease[1]. It draws 378 Wikipedia views per month (rare disease category, ranking #219 of 627).[2]
Key Facts
- Instance of: class of disease[3], symptom or sign[4]
- Subclass of: autosomal dominant disease[5], RASopathy[6]
- Commons category: LEOPARD syndrome[7]
- ICPC 2 ID: A90[8]
- NCI Thesaurus ID: C84820[9]
- Health specialty: dermatology[10], cardiology[11], rheumatology[12]
- Genetic association: BRAF[13], RAF1[14], PTPN11[15]
- Exact match: http://purl.obolibrary.org/obo/DOID_14291[16], http://identifiers.org/doid/DOID:14291[17]
- On focus list of Wikimedia project: WikiProject Medicine[18]
Why It Matters
LEOPARD syndrome has Wikipedia articles in 12 language editions, a strong signal of global cultural recognition.[19] It is known by 35 alternative names across languages and contexts.[20]