Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
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
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
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
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
C1842581 Abnormal corpus callosum morphology phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of the nervous system 12 10
C0029131 Abnormality of the optic nerve phenotype Finding Abnormality of the eye 8 11
C0878660 Proportionate short stature phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding Growth abnormality 7 11
C0013132 Drooling phenotype Stomatognathic Diseases Finding Abnormality of the nervous system; Abnormality of head or neck 14 14
C0431352 Secondary microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 11 20
C1853743 Muscular hypotonia of the trunk phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 25 25
C0038273 Stereotypic Movement Disorder phenotype Mental Disorders Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 21 25
C1844806 Weight less than 3rd percentile phenotype Finding Growth abnormality 22 27
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
C0016842 Congenital pectus excavatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality 26 35
C0014877 Esotropia disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 33 38
C0026838 Muscle Spasticity phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of the musculature 28 39
C0037317 Sleep disturbances phenotype Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Sign or Symptom Abnormality of the nervous system 37 41