Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C3553937 PEROXISOME BIOGENESIS DISORDER 4B disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 35
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
C1868549 Marked delay in bone age phenotype Finding Abnormality of the skeletal system 1 2
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
C4476788 Decreased CSF 5-hydroxyindolacetic acid phenotype Finding Abnormality of the nervous system 1 2
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
C1850573 Slender build phenotype Pathological Conditions, Signs and Symptoms Finding Growth abnormality 1 2
C4023333 Abnormality of corneal thickness phenotype Anatomical Abnormality Abnormality of the eye 1 2
C3808249 Abnormality of the optic disc phenotype Finding Abnormality of the eye 2 4
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
C0231255 Decreased body mass index phenotype Pathological Conditions, Signs and Symptoms Finding Growth abnormality 2 3
C1855670 Abnormal cornea morphology group Finding Abnormality of the eye 3 4
C1849025 Oval face phenotype Finding Abnormality of head or neck 3 4
C1843496 Bilateral microphthalmos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality Abnormality of the eye 4 5
C1857790 Thoracic scoliosis phenotype Musculoskeletal Diseases Finding Abnormality of the skeletal system 4 5
C1867114 Craniofacial disproportion phenotype Finding Abnormality of head or neck 4 5
C1390474 Increased susceptibility to fractures phenotype Finding Abnormality of the skeletal system 4 5
C0239137 Coxa valga phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 4 5
C1855514 Severe failure to thrive phenotype Finding Growth abnormality 4 4
C0035300 Abnormal retinal morphology phenotype Eye Diseases Finding Abnormality of the eye 5 8
C1854885 Cerebral dysmyelination phenotype Finding Abnormality of the nervous system 5 6
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
C1848701 Elevated hepatic transaminase phenotype Finding Abnormality of the digestive system 6 9
C1853241 Flat face phenotype Finding Abnormality of head or neck 6 7
C0878660 Proportionate short stature phenotype Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Finding Growth abnormality 7 11