Source: CLINVAR

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C1855670 Abnormal cornea morphology group Finding Abnormality of the eye 3 4
C0035300 Abnormal retinal morphology phenotype Eye Diseases Finding Abnormality of the eye 5 8
C4023333 Abnormality of corneal thickness phenotype Anatomical Abnormality Abnormality of the eye 1 2
C1866129 Abnormality of the cerebellum group Nervous System Diseases Finding Abnormality of the nervous system 8 11
C4316870 Abnormality of the eye phenotype Anatomical Abnormality Abnormality of the eye 21 29
C3808249 Abnormality of the optic disc phenotype Finding Abnormality of the eye 2 4
C0029131 Abnormality of the optic nerve phenotype Finding Abnormality of the eye 8 11
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
C1843496 Bilateral microphthalmos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality Abnormality of the eye 4 5
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
C1854885 Cerebral dysmyelination phenotype Finding Abnormality of the nervous system 5 6
C0152423 Congenital small ears disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality Abnormality of the ear 9 11
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
C0239137 Coxa valga phenotype Pathological Conditions, Signs and Symptoms; Musculoskeletal Diseases Finding Abnormality of limbs; Abnormality of the skeletal system 4 5
C1867114 Craniofacial disproportion phenotype Finding Abnormality of head or neck 4 5
C0231255 Decreased body mass index phenotype Pathological Conditions, Signs and Symptoms Finding Growth abnormality 2 3
C4476788 Decreased CSF 5-hydroxyindolacetic acid phenotype Finding Abnormality of the nervous system 1 2
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 9 13
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 88 106
C1848701 Elevated hepatic transaminase phenotype Finding Abnormality of the digestive system 6 9
C1306710 Facial asymmetry phenotype Pathological Conditions, Signs and Symptoms Finding Abnormality of head or neck 10 13
C1867873 Failure to thrive in infancy phenotype Finding Growth abnormality 11 12
C1853241 Flat face phenotype Finding Abnormality of head or neck 6 7
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 128 164