Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 237 417
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 63 92
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 63 77
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 54 69
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
C0338656 Impaired cognition disease Mental Disorders Mental or Behavioral Dysfunction Abnormality of the nervous system 26 25
C2673410 Small midface phenotype Finding Abnormality of head or neck 23 24
C2981150 Uranostaphyloschisis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Respiratory Tract Diseases; Stomatognathic Diseases; Otorhinolaryngologic Diseases Congenital Abnormality syndrome; physical disorder Abnormality of head or neck 21 24
C0020490 Hyperopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 16 17
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
C1868571 Highly arched eyebrow phenotype Finding Abnormality of the integument; Abnormality of head or neck 15 14
C0016522 Foramen Ovale, Patent disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Cardiovascular Diseases Congenital Abnormality genetic disease; disease of anatomical entity Abnormality of the cardiovascular system 11 11
C1836996 Disproportionate tall stature phenotype Finding Growth abnormality 8 17
C1842060 Prominent supraorbital ridges phenotype Finding Abnormality of head or neck 7 10
C4551488 Bifid uvula disease Congenital Abnormality Abnormality of head or neck 7 7
C1865304 Overfolding of the superior helices phenotype Finding Abnormality of the ear 6 7
C0746102 Chronic lung disease disease Respiratory Tract Diseases Disease or Syndrome Abnormality of the respiratory system 6 7
C0152236 Talipes valgus disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 2 2