Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0027651 Neoplasms group Neoplasms Neoplastic Process disease of cellular proliferation Neoplasm 10161 1644
C0678222 Breast Carcinoma disease Neoplasms; Skin and Connective Tissue Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the breast 6776 2793
C0376358 Malignant neoplasm of prostate disease Neoplasms; Male Urogenital Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system 4502 1082
C0919267 ovarian neoplasm disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the genitourinary system; Neoplasm 2542 757
C1510586 Autism Spectrum Disorders disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1071 331
C0003467 Anxiety disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1048 287
C0006118 Brain Neoplasms group Neoplasms; Nervous System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Neoplasm 1018 204
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 967 579
C0424605 Developmental delay (disorder) phenotype Mental Disorders Mental or Behavioral Dysfunction 584 68
C0008073 Developmental Disabilities group Mental Disorders Mental or Behavioral Dysfunction 355 19
C0018553 Hamartoma Syndrome, Multiple disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process genetic disease; disease of anatomical entity 270 139
C1843367 Poor school performance phenotype Finding Abnormality of the nervous system 211 411
C0003857 Congenital arteriovenous malformation disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 163 23
C0040137 Thyroid Nodule disease Neoplasms; Endocrine System Diseases Neoplastic Process Abnormality of the endocrine system 150 17
C1849265 Overgrowth phenotype Finding Growth abnormality 103 93
C0600104 Obsessive compulsive behavior disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 94 16
C0018552 Hamartoma disease Neoplasms Neoplastic Process Neoplasm 91 8
C0027672 Neoplastic Syndromes, Hereditary group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process 88 6387
C0334533 Arteriovenous hemangioma disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 76 14
C0162538 Immunoglobulin A deficiency (disorder) disease Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of metabolism/homeostasis; Abnormality of the immune system; Abnormal cellular phenotype 72 25
C2243051 Large head (disorder) phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 64 116
C0391826 Lhermitte-Duclos disease disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process genetic disease; disease of anatomical entity Abnormality of the nervous system 41 83
C1959582 PTEN Hamartoma Tumor Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms Neoplastic Process genetic disease; disease of anatomical entity; syndrome 17 194
C1335168 Ovarian mucinous tumor disease Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm 11 1
C3551915 MENINGIOMA, FAMILIAL, SUSCEPTIBILITY TO phenotype Finding 5 16