Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0000768 Congenital Abnormality group Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 1098 73
C0000786 Spontaneous abortion phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function Abnormality of prenatal development or birth 188 0
C0000822 Abortion, Tubal phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function 109 0
C0001080 Achondroplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality genetic disease; disease of anatomical entity 46 21
C0001122 Acidosis phenotype Nutritional and Metabolic Diseases Pathologic Function disease of metabolism Abnormality of metabolism/homeostasis 28 0
C0001144 Acne Vulgaris disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity 94 37
C0001175 Acquired Immunodeficiency Syndrome group Infections; Immune System Diseases Disease or Syndrome disease by infectious agent 243 42
C0001206 Acromegaly disease Musculoskeletal Diseases; Nervous System Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the endocrine system 138 25
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2235 168
C0001430 Adenoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1183 103
C0001618 Tumors of Adrenal Cortex group Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 74 5
C0001622 Adrenal Gland Hyperfunction phenotype Endocrine System Diseases Disease or Syndrome disease of anatomical entity 50 0
C0001623 Adrenal gland hypofunction phenotype Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 90 10
C0001624 Adrenal Gland Neoplasms group Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 94 0
C0001787 Osteoporosis, Age-Related disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome 89 0
C0001849 AIDS Dementia Complex disease Infections; Immune System Diseases; Nervous System Diseases; Mental Disorders Disease or Syndrome 45 4
C0001956 Alcohol Use Disorder disease Chemically-Induced Disorders; Mental Disorders Mental or Behavioral Dysfunction 218 54
C0002152 Alloxan Diabetes disease Nutritional and Metabolic Diseases; Endocrine System Diseases Experimental Model of Disease 112 0
C0002170 Alopecia disease Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of head or neck 491 375
C0002395 Alzheimer's Disease disease Nervous System Diseases; Mental Disorders Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 3397 1843
C0002622 Amnesia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health 173 12
C0002726 Amyloidosis disease Nutritional and Metabolic Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis 694 93
C0002736 Amyotrophic Lateral Sclerosis disease Nutritional and Metabolic Diseases; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the nervous system 1114 485
C0002793 Anaplasia disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process 538 7
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 847 94