|
congenital, with central diabetes insipidus hypopituitarism
|
C565477 |
|
|
idiopathic or cryptogenic familial epilepsy syndrome with identified loci/genes
|
15654 |
|
|
hypercalcinuria, and decreased bone density hypouricemia
|
C565475 |
|
|
lactic acidemia due to defect in lipoyl-containing component x of the pyruvate dehydrogenase complex
|
C565447 |
|
|
lactic acidemia due to defect of e2 lipoyl transacetylase of the pyruvate dehydrogenase complex
|
C565448 |
|
|
immune defect due to inosine phosphorylase deficiency
|
C565465 |
|
|
pyruvate dehydrogenase e3-binding protein deficiency
|
C565447 |
|
|
cutis verticis gyrata and corneal leukoma acromegaloid changes
|
C535654 |
|
|
neonatal, simulating foetopathia diabetica hypoglycemia
|
C565484 |
|
|
cutis verticis gyrata, and corneal leukoma acromegaloid changes
|
C535654 |
|
|
intrinsic defect in lymphoblastic transformation
|
C565431 |
|
|
bilateral, with hypercalciuria macular coloboma
|
C565423 |
|
|
familial, with hypercalciuria, nephrocalcinosis, and severe ocular involvement hypomagnesemia
|
C565423 |
|
|
Ascaris lumbricoides infection
|
5654 |
|
|
renal, with intracerebral calcifications hypophosphatemia
|
C565478 |
|
