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Diseases
Blepharophimosis Syndrome Ohdo Type
blepharophimosis syndrome ohdo type
- Entity Type
- Diseases
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Basic Information
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Core Information
- Disease Name
- Blepharophimosis Syndrome Ohdo Type
- Standard Disease Name
- blepharophimosis syndrome ohdo type
- MeSH Tree
- No data
- ICD-10
- No data
Identifiers
- DO ID
- No data
- MeSH ID
- No data
- OMIM ID
- MTHU007357
- UMLS ID
- C0029442
- HPO ID
- No data
Description and Extensions
- Description
- NCI2016_02D:A metabolic bone disease that results from either a deficiency in vitamin D, or an abnormality in the metabolism of vitamin D, or a deficiency of calcium in the diet. The most common symptoms are bone pain and muscle weakness. When it occurs in children it is commonly referred to as rickets. (Diagnostic Surgical Pathology, 3rd ed.) --2003|HPO2016_07_04:Osteomalacia is a general term for bone weakness owing to a defect in mineralization of the protein framework known as osteoid. This defective mineralization is mainly caused by lack in vitamin D. Osteomalacia in children is known as rickets. [HPO:curators]|CSP2006:inadequate or delayed mineralization of osteoid in mature cortical and spongy bone.
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