Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0741494 Elevated total bilirubin phenotype Finding Abnormality of metabolism/homeostasis 9 1
C0232939 Primary physiologic amenorrhea disease Pathological Conditions, Signs and Symptoms Disease or Syndrome Abnormality of the genitourinary system; Abnormality of the endocrine system 3 1
C2674612 Leydig Cell Adenoma, Somatic, with Male-Limited Precocious Puberty disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process 3 1
C4016252 LEYDIG HYPOPLASIA, TYPE I disease Finding 3 1
C4023702 Hyoplasia of the Leydig cells phenotype Finding Abnormality of the genitourinary system 3 1
C0002879 Anemia, Hemolytic, Acquired disease Hemic and Lymphatic Diseases Disease or Syndrome 2 1
C0005411 Biliary Atresia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Congenital Abnormality disease of anatomical entity Abnormality of the digestive system 2 1
C0014549 Tonic-Clonic Epilepsy disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 2 1
C0021828 Intestinal Atresia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the digestive system 2 1
C0023448 Lymphoid 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 2 1
C0024528 Malaise and fatigue phenotype Sign or Symptom 2 1
C0025289 Meningitis disease Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system; Abnormality of the immune system 2 1
C0029440 Osteoma disease Neoplasms Neoplastic Process Neoplasm; Abnormality of the skeletal system 2 1
C0029442 Osteomalacia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Musculoskeletal Diseases; Male Urogenital Diseases; Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 2 1
C0030583 Parotitis disease Stomatognathic Diseases Disease or Syndrome disease of anatomical entity Abnormality of head or neck 2 1
C0032460 Polycystic Ovary Syndrome disease Neoplasms; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome syndrome Abnormality of the genitourinary system 2 1
C0035344 Retinopathy of Prematurity disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the eye 2 1
C0036400 Scimitar Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Respiratory Tract Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the respiratory system; Abnormality of the cardiovascular system 2 1
C0043352 Xerostomia disease Stomatognathic Diseases Finding Abnormality of head or neck 2 1
C0085096 Peripheral Vascular Diseases group Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2 1
C0151517 Complete atrioventricular block disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 2 1
C0152439 Retinoschisis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 2 1
C0153425 Malignant tumor of small intestine disease Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2 1
C0158962 Hemolytic disease of fetus OR newborn due to RhD isoimmunization disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Immune System Diseases; Hemic and Lymphatic Diseases Disease or Syndrome 2 1
C0206667 Adrenal Cortical Adenoma disease Neoplasms; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the endocrine system; Neoplasm 2 1