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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease hypercalcemia
Comorbidity C0027709|nephrocalcinosis
Sentences 3
PubMedID- 24969200 Follow-up us two months later showed early nephrocalcinosis along with hypercalcemia and hypercalciuria; by the age of three months, nephrocalcinosis was more extensive and the serum ca level was more than 12 mg/l with hypercalciuria.
PubMedID- 25188737 We report a pediatric patient with cystic fibrosis (cf) and pancreatic insufficiency who was found to have hypervitaminosis a causing hypercalcemia, complicated by nephrocalcinosis and renal impairment.
PubMedID- 22412832 The physical wbs phenotype includes a short stature, craniofacial abnormalities [24] with a characteristic dysmorphic face (elfin-like face), an odd gait, abnormalities affecting different systems such as the cardiovascular system (vascular stenosis), the musculoskeletal or endocrine systems, and frequent infantile hypercalcaemia leading to nephrocalcinosis [25], [26].

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