Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C2315100 Pediatric failure to thrive disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome Growth abnormality 89 118
C1843156 Progressive sensorineural hearing impairment disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the ear 17 18
C4023338 Profound sensorineural hearing impairment disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the ear 1 2
C0036857 Severe intellectual disability disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Mental Disorders; Behavior and Behavior Mechanisms Mental or Behavioral Dysfunction genetic disease; disease of mental health Abnormality of the nervous system 43 62
C0036572 Seizures phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Sign or Symptom disease of anatomical entity Abnormality of the nervous system 237 417
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 128 164
C0751495 Seizures, Focal phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 6 9
C1856694 Areflexia of lower limbs phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of limbs 2 4
C2674177 Areflexia of upper limbs phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of limbs 1 2
C0239137 Coxa valga phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 4 5
C0042798 Low Vision disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome Abnormality of the eye 32 41
C0456909 Blindness phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 15 18
C0948163 Leukoaraiosis phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of the nervous system 21 24
C1306710 Facial asymmetry phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of head or neck 10 13
C0231255 Decreased body mass index phenotype Pathological Conditions, Signs and Symptoms Finding Growth abnormality 2 3
C1850573 Slender build phenotype Pathological Conditions, Signs and Symptoms Finding Growth abnormality 1 2
C0029453 Osteopenia disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 23 23
C1866129 Abnormality of the cerebellum group Nervous System Diseases Finding Abnormality of the nervous system 8 11
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 63 92
C0749379 Thoracolumbar scoliosis disease Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 12 15
C1857790 Thoracic scoliosis phenotype Musculoskeletal Diseases Finding Abnormality of the skeletal system 4 5
C0410266 Contracture of hamstring(s) disease Musculoskeletal Diseases Acquired Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 1 2
C0029124 Optic Atrophy disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 19 34
C0854723 Retinal Dystrophies group Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 78 218
C0035300 Abnormal retinal morphology phenotype Eye Diseases Finding Abnormality of the eye 5 8