MONDO_merge Find_IDs Find_Terms Annotation
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created at 2021-12-22 03:08:20 UTC
updated at 2021-12-22 07:06:09 UTC
MONDO_bioport_pref_name
183,974 entries
Label
Id
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