Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
C1837658 Gross motor development delay disease Mental Disorders Disease or Syndrome Abnormality of the nervous system 39 59
C0549629 Abnormal delivery phenotype Pathologic Function Abnormality of prenatal development or birth 32 37
C1836542 Depressed nasal bridge phenotype Finding Abnormality of head or neck 31 39
C4281993 Neonatal respiratory distress phenotype Respiratory Tract Diseases Finding Abnormality of the respiratory system 31 34
C0221357 Brachydactyly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 30 39
C1840077 Anteverted nostril phenotype Finding Abnormality of head or neck 30 35
C2267233 Neonatal Hypotonia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the musculature 27 45
C2673410 Small midface phenotype Finding Abnormality of head or neck 23 24
C1865017 Thin upper lip vermilion phenotype Finding Abnormality of head or neck 18 25
C0410528 Skeletal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 16 58
C4072904 Secondary Caesarian section phenotype Finding Abnormality of prenatal development or birth 13 13
C1855650 Birth length less than 3rd percentile phenotype Finding Growth abnormality 11 13
C0158986 Neonatal hypoglycemia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis 11 13
C0024003 Lordosis phenotype Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 9 15
C1837482 Thoracic hypoplasia disease Congenital Abnormality Abnormality of the skeletal system 7 16
C0085207 Gestational Diabetes phenotype Nutritional and Metabolic Diseases; Female Urogenital Diseases and Pregnancy Complications; Endocrine System Diseases Disease or Syndrome disease of metabolism Abnormality of metabolism/homeostasis; Abnormality of prenatal development or birth; Abnormality of the endocrine system 6 11
C0878659 Disproportionate short stature phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding Growth abnormality 5 6
C1866730 Rhizomelia disease Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system; Growth abnormality 4 6
C1096086 Deformity of lower limb disease Anatomical Abnormality Abnormality of limbs 4 5
C1849937 Disproportionate short-limb short stature phenotype Finding Growth abnormality 4 5
C4021789 Abnormality of the vertebral column phenotype Anatomical Abnormality Abnormality of the skeletal system 4 5
C4020847 Abnormality of pelvic girdle bone morphology disease Anatomical Abnormality Abnormality of the skeletal system 3 5
C0016506 Foot Deformities group Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs 3 5