Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
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
C0234517 Anarthria speech disorder disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 1 1
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
C0427190 Ataxia, Truncal phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 10 13
C0034935 Babinski Reflex phenotype Finding Abnormality of the nervous system 10 11
C0233565 Bradykinesia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom Abnormality of the nervous system 6 6
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
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
C0233844 Clumsiness phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Sign or Symptom Abnormality of the nervous system 3 3
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
C0013132 Drooling phenotype Stomatognathic Diseases Finding Abnormality of the nervous system; Abnormality of head or neck 14 14
C0454596 Dysarthria, Spastic phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of the musculature 1 1
C0234144 Dysgraphia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction Abnormality of the nervous system 2 2
C0752210 Dyskinesias, Paroxysmal disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 3 3
C1527344 Dysphonia phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Nervous System Diseases; Otorhinolaryngologic Diseases Mental or Behavioral Dysfunction Abnormality of the nervous system; Abnormality of the voice 2 2
C0013421 Dystonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 42 61
C4310633 DYSTONIA 28, CHILDHOOD-ONSET disease Disease or Syndrome 1 13
C4023452 Elevated C-reactive protein level phenotype Finding Abnormality of metabolism/homeostasis 2 2
C0239548 Fasciculation, Tongue phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of head or neck 6 7
C0232466 Feeding difficulties phenotype Finding Abnormality of the digestive system 45 62
C0333068 Flexion contracture disease Musculoskeletal Diseases Finding Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 26 32
C1857304 Flexion contracture of finger phenotype Finding Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 4 4
C0575081 Gait abnormality group Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 17 23
C0231698 Gait, Scissors phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of the musculature 1 1