Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0026827 Muscle hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 336 579
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
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 88 106
C0026351 Moderate intellectual disability disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 74 93
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 45 62
C1836830 Developmental regression disease Mental Disorders Disease or Syndrome Abnormality of the nervous system 39 78
C0037317 Sleep disturbances phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom Abnormality of the nervous system 37 41
C0038273 Stereotypic Movement Disorder phenotype Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 21 25
C0233514 Abnormal behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 16 19
C0021125 Impulsive Behavior phenotype Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 4 10
C0424375 Biting self phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 3 3
C1696701 Skin-picking disease Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction Abnormality of the nervous system 2 2
C4540470 MENTAL RETARDATION, AUTOSOMAL DOMINANT 50 disease Mental or Behavioral Dysfunction genetic disease; disease of mental health 1 9
C1303003 Epicanthus inversus phenotype Finding Abnormality of head or neck 1 1
C1834433 Obsessive-compulsive trait phenotype Behavior and Behavior Mechanisms Finding Abnormality of the nervous system 1 1