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
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
C0036857 Severe intellectual disability disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction genetic disease; disease of mental health Abnormality of the nervous system 43 62
C1837658 Gross motor development delay disease Mental Disorders Disease or Syndrome Abnormality of the nervous system 39 59
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 6 9
C0241442 Protrusion of tongue phenotype Finding Abnormality of head or neck 4 4