Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 910 121
C1839326 Abnormal form of the vertebral bodies phenotype Finding Abnormality of the skeletal system 89 0
C0685695 Abnormal lung lobation disease Respiratory Tract Diseases Congenital Abnormality Abnormality of the respiratory system 32 0
C1859347 Abnormal subcutaneous fat tissue distribution phenotype Finding Abnormality of the integument; Abnormality of connective tissue 9 2
C4021800 Abnormality of dental enamel group Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue 96 4
C4021768 Abnormality of metabolism/homeostasis phenotype Finding Abnormality of metabolism/homeostasis 171 5
C1862475 Abnormality of retinal pigmentation phenotype Finding Abnormality of the eye 215 5
C1866129 Abnormality of the cerebellum group Nervous System Diseases Finding Abnormality of the nervous system 55 11
C4021785 Abnormality of the metacarpal bones disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 40 3
C4025896 Abnormality of the penis disease Anatomical Abnormality Abnormality of the genitourinary system 8 0
C4021744 Abnormality of the wrist disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 10 0
C1456418 Absence of muscle disease Congenital Abnormality physical disorder 12 2
C0221270 Acanthosis phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the integument 37 0
C0234238 Ache phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom 50 0
C0027859 Acoustic Neuroma disease Neoplasms; Nervous System Diseases; Otorhinolaryngologic Diseases Neoplastic Process genetic disease; disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm; Abnormality of the ear 131 3
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 149 2
C0234376 Action Tremor phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 95 2
C1333296 Activated B-cell type diffuse large B-cell lymphoma disease Neoplastic Process 39 2
C3714976 ACTIVATED PI3K-DELTA SYNDROME disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Immune System Diseases Disease or Syndrome 10 6
C0948089 Acute Coronary Syndrome disease Cardiovascular Diseases Disease or Syndrome 440 139
C0085669 Acute leukemia disease Pathological Conditions, Signs and Symptoms; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 639 50
C0023449 Acute lymphocytic leukemia disease Neoplasms; Immune System Diseases; Hemic and Lymphatic Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 1293 222
C0023462 Acute Megakaryocytic Leukemias disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 159 15
C0023465 Acute monocytic leukemia disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the immune system; Neoplasm; Abnormality of blood and blood-forming tissues 633 22
C4528668 Acute myeloid leukaemia refractory disease Neoplasms Neoplastic Process 58 0