Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 128 164
C0038379 Strabismus disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 61 85
C0027092 Myopia disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 45 52
C4022738 Neurodevelopmental delay phenotype Finding Abnormality of the nervous system 17 24
C0424731 Single transverse palmar crease phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities Finding Abnormality of the integument; Abnormality of limbs 14 14
C0009952 Febrile Convulsions disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 12 17
C0079352 Congenital torticollis disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the musculature 6 6
C0546964 Genu recurvatum disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 5 4
C4693860 DEVELOPMENTAL DELAY, INTELLECTUAL DISABILITY, OBESITY, AND DYSMORPHIC FEATURES disease Disease or Syndrome 2 17
C0041960 Ureterocele disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Acquired Abnormality disease of anatomical entity Abnormality of the genitourinary system 1 1