Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C3164445 Abnormality of aortic valve disease Anatomical Abnormality Abnormality of the cardiovascular system 2 2
C4022662 Abnormality of lateral ventricle disease Anatomical Abnormality Abnormality of the nervous system 2 2
C4025871 Abnormality of the face phenotype Anatomical Abnormality Abnormality of head or neck 9 24
C1860493 Abnormality of the sternum phenotype Anatomical Abnormality Abnormality of the skeletal system 6 11
C0152013 Adenocarcinoma of lung (disorder) disease Neoplasms Neoplastic Process disease of anatomical entity; disease of cellular proliferation Neoplasm; Abnormality of the respiratory system 37 211
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 30 35
C0018817 Atrial Septal Defects group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 37 43
C0005745 Blepharoptosis disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 37 49
C0221356 Brachycephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 19 18
C1853638 Broad neck phenotype Finding Abnormality of head or neck 4 10
C0221263 Cafe-au-Lait Spots phenotype Pathological Conditions, Signs and Symptoms; Skin and Connective Tissue Diseases Finding Abnormality of the integument 18 32
C0243050 Cardiovascular Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality Abnormality of the cardiovascular system 2 8
C1850049 Clinodactyly of the 5th finger disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 37 39
C0424492 Coarse features phenotype Finding 2 2
C0678230 Congenital Epicanthus disease Congenital Abnormality Abnormality of head or neck 29 30
C0158731 Congenital pectus carinatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 15 26
C0016842 Congenital pectus excavatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 35
C1860245 Cranial asymmetry phenotype Finding Abnormality of head or neck; Abnormality of the skeletal system 3 3
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 35 47
C0558165 Curly hair (finding) phenotype Finding Abnormality of the integument 4 7
C1857539 Deep palmar crease phenotype Finding Abnormality of the integument; Abnormality of limbs 7 8
C1839797 Deep philtrum phenotype Finding Abnormality of head or neck 5 5
C1857953 Deep plantar creases phenotype Finding Abnormality of the integument; Abnormality of limbs 5 6
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 31 39
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 35 49