Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4021741 Abnormal cortical bone morphology disease Anatomical Abnormality Abnormality of the skeletal system 41 0
C4023721 Abnormal hair pattern disease Anatomical Abnormality Abnormality of the integument 15 1
C4023397 Abnormal hair quantity disease Anatomical Abnormality Abnormality of the integument 29 0
C4021634 Abnormality of bone marrow cell morphology disease Anatomical Abnormality Abnormality of blood and blood-forming tissues 15 0
C4021611 Abnormality of epiphysis morphology phenotype Anatomical Abnormality Abnormality of the skeletal system 86 0
C4025676 Abnormality of the knee disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 10 0
C4025663 Abnormality of tibia morphology disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 13 2
C0702166 Acne disease Skin and Connective Tissue Diseases Disease or Syndrome disease of anatomical entity Abnormality of the integument; Abnormality of the immune system 167 11
C0410740 Acquired deformity of finger disease Musculoskeletal Diseases Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system 5 0
C0917990 Acro-Osteolysis disease Musculoskeletal Diseases Disease or Syndrome genetic disease Abnormality of limbs; Abnormality of the skeletal system 16 1
C0001418 Adenocarcinoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2235 168
C0205645 Adenocarcinoma, Tubular disease Neoplasms Neoplastic Process disease of cellular proliferation 133 3
C0001430 Adenoma group Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1183 103
C1302401 Adenoma of large intestine disease Digestive System Diseases; Neoplasms Neoplastic Process 452 213
C0032580 Adenomatous Polyposis Coli disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases; Neoplasms Neoplastic Process genetic disease 609 237
C0278878 Adult Glioblastoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2528 98
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
C0002871 Anemia disease Hemic and Lymphatic Diseases Disease or Syndrome disease of anatomical entity Abnormality of blood and blood-forming tissues 847 94
C0238644 Anemia, severe disease Hemic and Lymphatic Diseases Disease or Syndrome 65 6
C1832661 ANOPHTHALMIA AND PULMONARY HYPOPLASIA disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Respiratory Tract Diseases Disease or Syndrome genetic disease 1410 80
C0162871 Aortic Aneurysm, Abdominal disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 586 90
C0003862 Arthralgia phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Sign or Symptom Constitutional symptom 248 27
C0003864 Arthritis disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 1072 69
C0022408 Arthropathy group Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 187 10
C0085660 Aseptic necrosis phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Pathologic Function disease of anatomical entity Abnormality of the skeletal system 41 0