Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0025990 Micrognathism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 46 52
C0240635 Byzanthine arch palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 46 66
C0026650 Movement Disorders group Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 162 240
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 63 92
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
C0008489 Chorea phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome genetic disease; disease of anatomical entity; disease of mental health Abnormality of the nervous system 11 14
C0085583 Choreoathetosis disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 6 7
C0034013 Precocious Puberty disease Endocrine System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the endocrine system 4 4
C0039239 Sinus Tachycardia disease Pathological Conditions, Signs and Symptoms; Cardiovascular Diseases Disease or Syndrome Abnormality of the cardiovascular system 4 5
C0032290 Aspiration Pneumonia disease Infections; Respiratory Tract Diseases Disease or Syndrome disease of anatomical entity Abnormality of the immune system; Abnormality of the respiratory system 3 4
C0752210 Dyskinesias, Paroxysmal disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 3 3
C0154856 Retinal lattice degeneration disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 2 2
C0581354 Recurrent sinusitis disease Infections; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the immune system; Abnormality of head or neck; Abnormality of the respiratory system; Abnormality of the skeletal system 2 3
C0234517 Anarthria speech disorder disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 1 1
C0238621 Aminoaciduria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 1 1
C3887667 Retrocollis disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the musculature 1 1
C4310633 DYSTONIA 28, CHILDHOOD-ONSET disease Disease or Syndrome 1 13
C4551563 Microcephaly (physical finding) phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 160 246
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 45 62
C0235991 Small for gestational age (disorder) phenotype Pathological Conditions, Signs and Symptoms; Female Urogenital Diseases and Pregnancy Complications Finding Growth abnormality 28 34
C0333068 Flexion contracture disease Musculoskeletal Diseases Finding Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 26 32
C1844806 Weight less than 3rd percentile phenotype Finding Growth abnormality 22 27
C0026826 Muscle Hypertonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of the musculature 20 21
C0575081 Gait abnormality group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 17 23
C0235659 Reduced fetal movement phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Female Urogenital Diseases and Pregnancy Complications Finding Abnormality of prenatal development or birth 16 17