Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C3150970 NOONAN SYNDROME 7 disease Disease or Syndrome genetic disease; syndrome 1 8
C3150971 LEOPARD SYNDROME 3 disease Disease or Syndrome genetic disease 1 5
C0431448 Absent eyebrow disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of the integument; Abnormality of head or neck 1 1
C0521579 Congenital strabismus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Nervous System Diseases Congenital Abnormality 1 1
C0578682 Madarosis of eyebrow disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of the integument; Abnormality of head or neck 1 1
C1266158 Nongerminomatous Germ Cell Tumor disease Neoplasms; Male Urogenital Diseases; Endocrine System Diseases Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 1
C1332969 Childhood Ganglioglioma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 1 1
C1843005 Absent eyelashes phenotype Congenital Abnormality Abnormality of the integument; Abnormality of head or neck 1 1
C1847874 PHACE association disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases; Skin and Connective Tissue Diseases; Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome 1 1
C1848760 Increased anterioposterior diameter of thorax phenotype Finding Abnormality of the skeletal system 1 1
C1857534 Postnatal onset growth deficiency phenotype Finding 1 1
C2674727 ASTROCYTOMA, LOW-GRADE, SOMATIC disease Finding 1 1
C4551517 Flared nostrils abnormality phenotype Finding Abnormality of head or neck 1 1
C0009375 Colonic Neoplasms group Digestive System Diseases; Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Abnormality of the digestive system; Neoplasm 2 3
C1837732 Thickened helices phenotype Finding Abnormality of the ear 2 3
C0023418 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 2 2
C0080218 Tethered Cord Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 2 2
C0206716 Ganglioglioma disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation 2 2
C0574974 Finger joint hypermobility phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 2 2
C4022855 Abnormal involuntary eye movements disease Anatomical Abnormality Abnormality of the eye 2 2
C1861862 Familial Hypertrophic Cardiomyopathy Type 4 disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 3 96
C0175704 LEOPARD Syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases; Cardiovascular Diseases Disease or Syndrome genetic disease 3 17
C0340279 Ventricular hypertrophy disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 3 5
C0917804 Arteriovenous Malformations, Cerebral group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Cardiovascular Diseases Congenital Abnormality disease of anatomical entity; disease of cellular proliferation Abnormality of the nervous system; Abnormality of the cardiovascular system 3 4
C1832160 Abnormality of temperature regulation phenotype Finding Abnormality of metabolism/homeostasis 3 3