All terms in MONDO_MATRIX

Label Id Description
anatomical line UBERON_0006800
hereditary hemochromatosis MONDO_0006507 [An inherited metabolic disorder characterized by iron accumulation in the tissues.]
[X] hemosiderosis MONDO_0001436 [Accumulation of iron in internal organs.]
[X] inborn metal metabolism disorder MONDO_0004689 [An inherited metabolic disorder that involves metabolic disturbances in the processing or distribution of dietary minerals.]
disorder of iron metabolism and transport MONDO_0017763
obsolete infantile epileptic encephalopathy MONDO_0006508
Thing Thing
pharmacotherapy MAXO_0000058 [Use of a substance introduced into a living organism with therapeutic or diagnostic purpose.]
basal ganglia cerebrovascular disorder MONDO_0006505 [A pathological condition caused by impaired blood flow in the basal regions of cerebral hemispheres (basal ganglia), such as infarction; hemorrhage; or ischemia in vessels of this brain region including the lateral lenticulostriate arteries. Primary clinical manifestations include involuntary movements (dyskinesias) and muscle weakness (hemiparesis).]
[X] cerebrovascular disorder MONDO_0011057 [A disorder resulting from inadequate blood flow in the vessels that supply the brain. Representative examples include cerebrovascular ischemia, cerebral embolism, and cerebral infarction.]
[X] basal ganglia disorder MONDO_0003996 [A disease involving the basal ganglia.]
[X] congenital nonspherocytic hemolytic anemia MONDO_0006506 [Any one of a group of congenital hemolytic anemias in which there is no abnormal hemoglobin or spherocytosis and in which there is a defect of glycolysis in the erythrocyte. Common causes include deficiencies in glucose-6-phosphate isomerase; pyruvate kinase; and glucose-6-phosphate dehydrogenase.]
[X] familial hemolytic anemia MONDO_0003689 [A congenital hemolytic anemia caused by defects of the erythrocyte membrane, enzyme deficiencies, or hemoglobinopathies.]
inherited hemoglobinopathy MONDO_0019050 [An inherited disorder characterized by structural alterations of a globin chain within the hemoglobin molecule.]
[X] congenital anemia MONDO_0000577 [Anemia, the cause of which is present at birth.]
KRT81 6458
obsolete episodic ataxia MONDO_0006503
[X] acquired metabolic disease MONDO_0006504 [An instance of metabolic disease that is acquired during the lifetime of the individual.]
[X] metabolic disease MONDO_0005066 [A congenital disorder (due to inherited enzyme abnormality) or acquired (due to failure of a metabolically important organ) disorder resulting from an abnormal metabolic process.]
obsolete inflammatory skin disease MONDO_0006501