Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C4021234 2-4 toe syndactyly disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 2
C0000737 Abdominal Pain phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom Abnormality of the digestive system; Constitutional symptom 231
C0241665 Abnormal venous morphology phenotype Anatomical Abnormality Abnormality of the cardiovascular system 2
C4021768 Abnormality of metabolism/homeostasis phenotype Finding Abnormality of metabolism/homeostasis 170
C1866129 Abnormality of the cerebellum group Nervous System Diseases Finding Abnormality of the nervous system 50
C4022001 Abnormality of the cerebral vasculature disease Anatomical Abnormality Abnormality of the nervous system; Abnormality of the cardiovascular system 18
C4024297 Abnormality of the hairline disease Anatomical Abnormality Abnormality of the integument; Abnormality of head or neck 2
C4021976 Abnormality of the lymphatic system disease Anatomical Abnormality Abnormality of the immune system; Abnormality of the cardiovascular system 16
C4025896 Abnormality of the penis disease Anatomical Abnormality Abnormality of the genitourinary system 8
C0234376 Action Tremor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 81
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 136
C0281361 Adenocarcinoma of pancreas disease Digestive System Diseases; Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 38
C0007112 Adenocarcinoma of prostate disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 16
C0010606 Adenoid Cystic Carcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 11
C0206686 Adrenocortical carcinoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 20
C0001816 Agnosia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 17
C0149793 Amaurosis Fugax phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Sign or Symptom Abnormality of the eye 44
C0002982 Angioid Streaks disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 10
C0003467 Anxiety disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 336
C3279222 Aplasia/Hypoplasia of the cerebellum phenotype Finding Abnormality of the nervous system 116
C0003803 Arnold Chiari Malformation disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system 43
C4022025 Asymmetric growth phenotype Finding Growth abnormality 6
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