Shwachman-Diamond syndrome
syndrome characterized by exocrine pancreatic insufficiency, bone marrow failure and skeletal abnormalities
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Summary
Shwachman-Diamond syndrome is a rare disease[1]. It ranks in the top 4% of rare disease entities by monthly Wikipedia readership (2,423 views/month).[2]
Key Facts
- Instance of: class of disease[3]
- Subclass of: syndrome[4], pancreas disease[5], genetic pancreatic disease[6], functional neutrophil defect[7], polymalformative genetic syndrome with increased risk of developing cancer[8], multiple metaphyseal dysplasia[9], congenital bone marrow failure syndromes[10], developmental defect during embryogenesis[11]
- Prevalence: 0.000005[12]
- NCI Thesaurus ID: C61235[13]
- Health specialty: medical genetics[14]
- Genetic association: SBDS[15], EFL1[16], DNAJC21[17]
- Age of onset: congenital onset[18], childhood onset[19], infantile onset[20], neonatal onset[21]
- Exact match: http://purl.obolibrary.org/obo/DOID_0060479[22], http://identifiers.org/doid/DOID:0060479[23], http://www.orpha.net/ORDO/Orphanet_811[24]
- On focus list of Wikimedia project: WikiProject Medicine[25]
- P14914: D00811[26]
Why It Matters
Shwachman-Diamond syndrome has Wikipedia articles in 13 language editions, a strong signal of global cultural recognition.[27] It is known by 37 alternative names across languages and contexts.[28]