Bloom syndrome
rare genetic disorder with short strature and predisposition to cancer
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Summary
Bloom syndrome is a rare disease[1]. It ranks in the top 8% of rare disease entities by monthly Wikipedia readership (1,503 views/month).[2]
Key Facts
- Instance of: class of disease[3]
- Subclass of: autosomal recessive disease[4], genetic photodermatosis[5], polymalformative genetic syndrome with increased risk of developing cancer[6], inherited skin tumor[7], tumor of hematopoietic and lymphoid tissues[8], photodermatosis[9], rare genetic developmental defect during embryogenesis[10], malformation syndrome with short stature[11], developmental anomaly of metabolic origin[12], genetic hematologic disease[13], DNA repair defect other than combined T-cell and B-cell immunodeficiencies[14], syndrome[15], developmental defect during embryogenesis[16]
- Commons category: Bloom's syndrome[17]
- Mode of inheritance: autosomal recessive[18]
- ICD-9-CM: 757.39[19]
- NCI Thesaurus ID: C2903[20]
- Health specialty: medical genetics[21]
- Genetic association: BLM[22]
- Exact match: http://purl.obolibrary.org/obo/DOID_2717[23], http://identifiers.org/doid/DOID:2717[24], http://www.orpha.net/ORDO/Orphanet_125[25]
- On focus list of Wikimedia project: WikiProject Medicine[26]
Why It Matters
Bloom syndrome has Wikipedia articles in 14 language editions, a strong signal of global cultural recognition.[27] It is known by 32 alternative names across languages and contexts.[28]