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
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183,974 entries
Label
Id
combined congenital deficiency of intrinsic factor and r binder C565461
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
kaitila type metaphyseal chondrodysplasia C565400
cutis verticis gyrata and corneal leukoma acromegaloid changes C535654
cutis verticis gyrata, and corneal leukoma acromegaloid changes C535654
intrinsic defect in lymphoblastic transformation C565431
Ascaris lumbricoides infection 5654
renal, with intracerebral calcifications hypophosphatemia C565478
lymphoblastic transformation, intrinsic defect in C565431
metaphyseal chondrodysplasia, kaitila type C565400