Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1458
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 556
C0026106 Mild Mental Retardation disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 269
C0234162 Cerebellar Dysmetria phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 125
C0234518 Slurred speech phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 39
C0038238 Steatorrhea phenotype Digestive System Diseases; Nutritional and Metabolic Diseases Finding Abnormality of the digestive system 37
C1843369 Vertical supranuclear gaze palsy disease Disease or Syndrome Abnormality of the eye 10
C4310624 BILE ACID SYNTHESIS DEFECT, CONGENITAL, 6 disease Disease or Syndrome genetic disease; disease of metabolism 1
C0342892 Hypolipidemia phenotype Nutritional and Metabolic Diseases; Hemic and Lymphatic Diseases Finding Abnormality of metabolism/homeostasis 1