Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1844806 Weight less than 3rd percentile phenotype Finding Growth abnormality 22 27
C0038273 Stereotypic Movement Disorder phenotype Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 21 25
C2677180 Congenital microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 15 28
C0013132 Drooling phenotype Stomatognathic Diseases Finding Abnormality of the nervous system; Abnormality of head or neck 14 14
C1842581 Abnormal corpus callosum morphology phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the nervous system 12 10
C0431352 Secondary microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 11 20
C0029131 Abnormality of the optic nerve phenotype Finding Abnormality of the eye 8 11
C3489733 Oculomotor apraxia disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases; Behavior and Behavior Mechanisms; Cardiovascular Diseases Disease or Syndrome Abnormality of the nervous system; Abnormality of the eye 8 9
C0878660 Proportionate short stature phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding Growth abnormality 7 11
C1861866 Aplasia/Hypoplasia of the corpus callosum phenotype Finding Abnormality of the nervous system 7 8
C3150077 Mild short stature phenotype Finding Growth abnormality 7 8
C0262655 Recurrent urinary tract infection disease Female Urogenital Diseases and Pregnancy Complications; Infections; Male Urogenital Diseases Disease or Syndrome Abnormality of the genitourinary system; Abnormality of the immune system 6 8
C1855285 Protruding ear phenotype Finding Abnormality of the ear 6 6
C1857278 Partial or complete agenesis of corpus callosum disease Congenital Abnormality Abnormality of the nervous system 5 6
C4021758 Delayed CNS myelination disease Anatomical Abnormality Abnormality of the nervous system 4 4
C4021152 Abnormal CNS myelination disease Anatomical Abnormality Abnormality of the nervous system 3 4
C3150705 FOXG1 syndrome disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases; Mental Disorders Disease or Syndrome disease of mental health 1 46
C0345326 Congenital phimosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Male Urogenital Diseases Congenital Abnormality Abnormality of the genitourinary system 1 1
C1854780 Flaring of rib cage phenotype Finding Abnormality of the skeletal system 1 1
C1857280 Infra-orbital crease phenotype Finding Abnormality of head or neck 1 1
C4025665 Aplasia/Hypoplasia involving the central nervous system phenotype Finding Abnormality of the nervous system 1 1