Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0221170 Muscular stiffness phenotype Nervous System Diseases Sign or Symptom Abnormality of the musculature 1 1
C0231698 Gait, Scissors phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of the musculature 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
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
C0241775 Organic aciduria phenotype Finding Abnormality of metabolism/homeostasis; Abnormality of the genitourinary system 1 1
C0454596 Dysarthria, Spastic phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of the musculature 1 1
C0455938 Large adenoids phenotype Finding Abnormality of the immune system; Abnormality of head or neck; Abnormality of the cardiovascular system 1 1
C1848954 Generalized dystonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system 1 1
C1850309 Mildly elevated creatine phosphokinase phenotype Finding Abnormality of metabolism/homeostasis 1 1
C1860216 Progressive choreoathetosis phenotype Finding Abnormality of the nervous 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
C4022785 Iron accumulation in substantia nigra phenotype Finding Abnormality of the nervous system 1 1
C4280687 Upper limb muscle hypertrophy phenotype Finding Abnormality of limbs; Abnormality of the musculature 1 1
C4551676 Laryngismus stridulus phenotype Pathological Conditions, Signs and Symptoms; Respiratory Tract Diseases; Otorhinolaryngologic Diseases Finding Abnormality of the respiratory system 1 1
C0151818 Opisthotonus phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases; Nervous System Diseases Sign or Symptom Abnormality of the nervous system; Abnormality of the musculature 2 2
C0154856 Retinal lattice degeneration disease Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 2 2
C0234144 Dysgraphia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction Abnormality of the nervous system 2 2
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
C1848459 High nonceruloplasmin-bound serum copper phenotype Finding Abnormality of metabolism/homeostasis 2 2
C1861239 Plantar flexion contractures phenotype Finding Abnormality of limbs; Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 2 2
C4022786 Iron accumulation in globus pallidus phenotype Finding Abnormality of the nervous system 2 2
C4023452 Elevated C-reactive protein level phenotype Finding Abnormality of metabolism/homeostasis 2 2
C0026961 Mydriasis phenotype Eye Diseases Sign or Symptom Abnormality of the eye 1 2
C1859979 Precocious puberty in males phenotype Endocrine System Diseases Finding Abnormality of the endocrine system 4 3
C0233844 Clumsiness phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders Sign or Symptom Abnormality of the nervous system 3 3