Source: CLINVAR

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 303 505
C0454644 Delayed speech and language development phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 124 192
C0009806 Constipation phenotype Pathological Conditions, Signs and Symptoms Sign or Symptom disease of anatomical entity Abnormality of the digestive system 40 49
C1836830 Developmental regression disease Mental Disorders Disease or Syndrome Abnormality of the nervous system 39 78
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
C0011168 Deglutition Disorders group Digestive System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the digestive system; Abnormality of the nervous system; Abnormality of head or neck 31 38
C0038273 Stereotypic Movement Disorder phenotype Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 21 25
C3887898 Infantile Spasm disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 21 22
C4072908 Induced vaginal delivery phenotype Pathologic Function Abnormality of prenatal development or birth 9 10
C0684276 Hypsarrhythmia phenotype Nervous System Diseases Finding Abnormality of the nervous system 6 7
C0020649 Hypotension phenotype Cardiovascular Diseases Finding Abnormality of the cardiovascular system 3 2