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
C0349588 Short stature phenotype Finding Growth abnormality 190 292
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 124 192
C0020534 Orbital separation excessive phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Finding Abnormality of the eye 63 77
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 35 49
C0149721 Left Ventricular Hypertrophy disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 5 6
C0239340 Edema of lower extremity phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of metabolism/homeostasis; Abnormality of limbs 2 2
C3809233 NOONAN SYNDROME 8 disease Disease or Syndrome genetic disease; syndrome 1 12