Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C4551563 Microcephaly (physical finding) phenotype Finding Abnormality of the nervous system; Abnormality of head or neck; Abnormality of the skeletal system 0 246
C4476788 Decreased CSF 5-hydroxyindolacetic acid phenotype Finding Abnormality of the nervous system 0 2
C4316870 Abnormality of the eye phenotype Anatomical Abnormality Abnormality of the eye 7 29
C4023338 Profound sensorineural hearing impairment disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the ear 0 2
C4023333 Abnormality of corneal thickness phenotype Anatomical Abnormality Abnormality of the eye 0 2
C3808249 Abnormality of the optic disc phenotype Finding Abnormality of the eye 0 4
C3553937 PEROXISOME BIOGENESIS DISORDER 4B disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 35
C3553764 Joint hyperflexibility phenotype Finding Abnormality of the skeletal system 0 12
C2674177 Areflexia of upper limbs phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of limbs 0 2
C2315100 Pediatric failure to thrive disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome Growth abnormality 0 118
C1868549 Marked delay in bone age phenotype Finding Abnormality of the skeletal system 0 2
C1867873 Failure to thrive in infancy phenotype Finding Growth abnormality 0 12
C1867114 Craniofacial disproportion phenotype Finding Abnormality of head or neck 0 5
C1866129 Abnormality of the cerebellum group Nervous System Diseases Finding Abnormality of the nervous system 5 11
C1861324 Short philtrum phenotype Finding Abnormality of head or neck 0 25
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 15 164
C1857790 Thoracic scoliosis phenotype Musculoskeletal Diseases Finding Abnormality of the skeletal system 0 5
C1856694 Areflexia of lower limbs phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the nervous system; Abnormality of limbs 0 4
C1855670 Abnormal cornea morphology group Finding Abnormality of the eye 0 4
C1855514 Severe failure to thrive phenotype Finding Growth abnormality 0 4
C1854885 Cerebral dysmyelination phenotype Finding Abnormality of the nervous system 0 6
C1853241 Flat face phenotype Finding Abnormality of head or neck 0 7
C1850573 Slender build phenotype Pathological Conditions, Signs and Symptoms Finding Growth abnormality 0 2
C1849025 Oval face phenotype Finding Abnormality of head or neck 0 4
C1848701 Elevated hepatic transaminase phenotype Finding Abnormality of the digestive system 0 9