Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0555198 Malignant Glioma disease Neoplasms Neoplastic Process disease of cellular proliferation 2 1
C0730345 Microalbuminuria phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 2 1
C0730379 Anhydramnios disease Disease or Syndrome 2 1
C0751330 Unilateral Hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom 2 1
C0795996 STRIATONIGRAL DEGENERATION, INFANTILE (disorder) disease Nervous System Diseases Disease or Syndrome disease of anatomical entity 2 1
C0848558 Hypospadias disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 2 1
C0877017 Generalized tonic-clonic seizures with focal onset disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 2 1
C1367972 Phlebitis and thrombophlebitis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 2 1
C1405984 Absent radius disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 2 1
C1441613 Immune diffusion phenotype Laboratory Procedure 2 1
C1527349 Ductal Breast Carcinoma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2 1
C1735886 Bland White Garland Syndrome phenotype Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 2 1
C1835117 Increased axial length of the globe phenotype Finding Abnormality of the eye 2 1
C1835171 Hypomagnesemia 2, renal disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Disease or Syndrome genetic disease; disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 2 1
C1836118 LEFT VENTRICULAR NONCOMPACTION 2 disease Disease or Syndrome 2 1
C1836230 HUMAN IMMUNODEFICIENCY VIRUS TYPE 1, SUSCEPTIBILITY TO disease Finding 2 1
C1837245 Carney Complex Variant disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Neoplasms; Cardiovascular Diseases Disease or Syndrome genetic disease 2 1
C1837246 Intracerebral periventricular calcifications phenotype Finding Abnormality of the nervous system; Abnormality of the skeletal system 2 1
C1837811 ASTHMA-RELATED TRAITS, SUSCEPTIBILITY TO, 2 disease Disease or Syndrome 2 1
C1838260 DIABETES MELLITUS, INSULIN-DEPENDENT, 5 disease Nutritional and Metabolic Diseases; Immune System Diseases; Endocrine System Diseases Disease or Syndrome disease of metabolism 2 1
C1838348 Oculomaxillofacial dysostosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Musculoskeletal Diseases; Stomatognathic Diseases Disease or Syndrome 2 1
C1846135 Autistic features phenotype Finding 2 1
C1846837 Aortic Aneurysm, Familial Thoracic 2 disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 2 1
C1847351 PANCREATIC CANCER, SUSCEPTIBILITY TO, 1 disease Finding 2 1
C1848435 WOOLLY HAIR, AUTOSOMAL RECESSIVE 1, WITH OR WITHOUT HYPOTRICHOSIS disease Disease or Syndrome genetic disease; disease of anatomical entity 2 1