Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0557874 Global developmental delay disease Mental or Behavioral Dysfunction Abnormality of the nervous system 1825 553
C0349588 Short stature phenotype Finding Growth abnormality 1127 292
C0004352 Autistic Disorder disease Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 1112 395
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 955 164
C0025990 Micrognathism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 586 53
C0432072 Dysmorphic features disease Congenital Abnormality 439 617
C0423110 Downward slant of palpebral fissure phenotype Finding Abnormality of head or neck 391 49
C2674608 Feeding difficulties in infancy phenotype Finding Abnormality of the digestive system 305 22
C0016202 Flatfoot phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 285 38
C0456070 Growth delay phenotype Pathologic Function Growth abnormality 244 40
C0235659 Reduced fetal movement phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding Abnormality of prenatal development or birth 169 17
C0266589 Congenital ear anomaly NOS (disorder) group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications; Otorhinolaryngologic Diseases Congenital Abnormality Abnormality of the ear 137 5
C0079924 Oligohydramnios phenotype Female Urogenital Diseases and Pregnancy Complications Pathologic Function disease of anatomical entity Abnormality of prenatal development or birth 129 21
C0014877 Esotropia disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 121 39
C1837142 Poor suck phenotype Finding Abnormality of the digestive system 103 31
C0010308 Congenital Hypothyroidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Disease or Syndrome genetic disease; disease of anatomical entity Abnormality of the endocrine system 94 48
C0795690 Congenital omphalocele disease Pathological Conditions, Signs and Symptoms; Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality disease of anatomical entity; physical disorder Abnormality of the digestive system; Abnormality of connective tissue 85 13
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 73 14
C4317146 Acid reflux phenotype Finding Abnormality of the digestive system 50 58
C1849075 Relative macrocephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 49 19
C0262374 Stricture of anus phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Digestive System Diseases Finding Abnormality of the digestive system 28 1
C0266298 Accessory kidney disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality Abnormality of the genitourinary system 20 1
C4025678 Abnormal trachea morphology phenotype Anatomical Abnormality Abnormality of the respiratory system 2 1
C4014538 ADNP-related multiple congenital anomalies, intellectual disability, autism spectrum disorder disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Disease or Syndrome genetic disease; disease of mental health 1 16
C1834042 Hypoplasia of facial musculature phenotype Finding Abnormality of head or neck; Abnormality of the musculature 1 1