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Items: 3

1.

Hypercalcemia, infantile, 2

Infantile hypercalcemia is characterized by severe hypercalcemia with failure to thrive, vomiting, dehydration, and nephrocalcinosis (summary by Schlingmann et al., 2016). For a general phenotypic description and a discussion of genetic heterogeneity of infantile hypercalcemia, see HCINF1 (143880). [from OMIM]

MedGen UID:
934441
Concept ID:
C4310473
Disease or Syndrome
2.

Fanconi renotubular syndrome 2

Any Fanconi syndrome in which the cause of the disease is a mutation in the SLC34A1 gene. [from MONDO]

MedGen UID:
462002
Concept ID:
C3150652
Disease or Syndrome
3.

Hypophosphatemic nephrolithiasis/osteoporosis 1

MedGen UID:
436776
Concept ID:
C2676786
Disease or Syndrome
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