Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 231
C4520679 Abnormal macular morphology phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Anatomical Abnormality Abnormality of the eye 27
C4531122 Abnormal speech prosody phenotype Finding Abnormality of the voice 15
C0522214 Abnormal visual evoked potential phenotype Nervous System Diseases Finding Abnormality of the eye 55
C4021795 Abnormality of Krebs cycle metabolism phenotype Finding Abnormality of metabolism/homeostasis 12
C4021734 Abnormality of mitochondrial metabolism phenotype Finding Abnormality of metabolism/homeostasis; Abnormal cellular phenotype 21
C1862475 Abnormality of retinal pigmentation phenotype Finding Abnormality of the eye 215
C0001125 Acidosis, Lactic phenotype Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 167
C0001403 Addison Disease disease Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 35
C0149793 Amaurosis Fugax phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom Abnormality of the eye 44
C0003123 Anorexia disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the digestive system 99
C4025821 Anterior hypopituitarism disease Nervous System Diseases; Endocrine System Diseases Disease or Syndrome Abnormality of the nervous system; Abnormality of the endocrine system 48
C0003467 Anxiety disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 336
C0003486 Aortic Aneurysm disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 54
C0003537 Aphasia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 56
C3279222 Aplasia/Hypoplasia of the cerebellum phenotype Finding Abnormality of the nervous system 116
C0003578 Apnea phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases Sign or Symptom Abnormality of the respiratory system 172
C0003886 Arthrogryposis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 136
C0004134 Ataxia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 609
C1263846 Attention deficit hyperactivity disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 344
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 244
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 574
C1856507 Bulbar signs phenotype Finding Abnormality of the nervous system 33
C0006625 Cachexia phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Growth abnormality 75
C1842820 Cardiac conduction abnormality phenotype Finding Abnormality of the cardiovascular system 18