Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0948163 Leukoaraiosis phenotype Pathological Conditions, Signs and Symptoms Pathologic Function Abnormality of the nervous system 0 24
C1306710 Facial asymmetry phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of head or neck 1 13
C1390474 Increased susceptibility to fractures phenotype Finding Abnormality of the skeletal system 1 5
C1837260 Prominent forehead phenotype Finding Abnormality of head or neck 0 25
C1837397 Severe global developmental delay phenotype Finding Abnormality of the nervous system 0 50
C1843108 Short palm phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 0 13
C1843156 Progressive sensorineural hearing impairment disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases; Otorhinolaryngologic Diseases Disease or Syndrome Abnormality of the ear 1 18
C1843496 Bilateral microphthalmos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality Abnormality of the eye 0 5
C1844806 Weight less than 3rd percentile phenotype Finding Growth abnormality 0 27
C1848673 Hypoplastic feet phenotype Finding Abnormality of limbs; Abnormality of the skeletal system 0 21
C1848701 Elevated hepatic transaminase phenotype Finding Abnormality of the digestive system 0 9
C1849025 Oval face phenotype Finding Abnormality of head or neck 0 4
C1850573 Slender build phenotype Pathological Conditions, Signs and Symptoms Finding Growth abnormality 0 2
C1853241 Flat face phenotype Finding Abnormality of head or neck 0 7
C1854885 Cerebral dysmyelination phenotype Finding Abnormality of the nervous system 0 6
C1855514 Severe failure to thrive phenotype Finding Growth abnormality 0 4
C1855670 Abnormal cornea morphology group Finding Abnormality of the eye 0 4
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
C1857790 Thoracic scoliosis phenotype Musculoskeletal Diseases Finding Abnormality of the skeletal system 0 5
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 15 164
C1861324 Short philtrum phenotype Finding Abnormality of head or neck 0 25
C1866129 Abnormality of the cerebellum group Nervous System Diseases Finding Abnormality of the nervous system 5 11
C1867114 Craniofacial disproportion phenotype Finding Abnormality of head or neck 0 5
C1867873 Failure to thrive in infancy phenotype Finding Growth abnormality 0 12
C1868549 Marked delay in bone age phenotype Finding Abnormality of the skeletal system 0 2