Source: CURATED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0410266 Contracture of hamstring(s) disease Musculoskeletal Diseases Acquired Abnormality Abnormality of the skeletal system; Abnormality of connective tissue; Abnormality of the musculature 0 2
C4316870 Abnormality of the eye phenotype Anatomical Abnormality Abnormality of the eye 7 29
C4023333 Abnormality of corneal thickness phenotype Anatomical Abnormality Abnormality of the eye 0 2
C0152423 Congenital small ears disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Otorhinolaryngologic Diseases Congenital Abnormality Abnormality of the ear 41 11
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 25 13
C0026010 Microphthalmos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 11 22
C1843496 Bilateral microphthalmos disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality Abnormality of the eye 0 5
C0431352 Secondary microcephaly disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases Congenital Abnormality 0 20
C0221358 Long narrow head disease Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 0 26
C0751495 Seizures, Focal phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the nervous system 104 9
C0029453 Osteopenia disease Nutritional and Metabolic Diseases; Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 15 23
C0029124 Optic Atrophy disease Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 10 34
C0036439 Scoliosis, unspecified disease Musculoskeletal Diseases Disease or Syndrome disease of anatomical entity Abnormality of the skeletal system 8 120
C0854723 Retinal Dystrophies group Eye Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 8 218
C0456909 Blindness phenotype Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome disease of anatomical entity Abnormality of the eye 3 18
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
C3553937 PEROXISOME BIOGENESIS DISORDER 4B disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nutritional and Metabolic Diseases Disease or Syndrome 1 35
C2315100 Pediatric failure to thrive disease Pathological Conditions, Signs and Symptoms; Nutritional and Metabolic Diseases; Mental Disorders Disease or Syndrome Growth abnormality 0 118
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
C0042798 Low Vision disease Pathological Conditions, Signs and Symptoms; Eye Diseases; Nervous System Diseases Disease or Syndrome Abnormality of the eye 0 41
C0749379 Thoracolumbar scoliosis disease Musculoskeletal Diseases Disease or Syndrome Abnormality of the skeletal system 0 15
C1858120 Generalized hypotonia phenotype Pathological Conditions, Signs and Symptoms; Nervous System Diseases Finding Abnormality of the musculature 15 164
C0349588 Short stature phenotype Finding Growth abnormality 10 292
C1866129 Abnormality of the cerebellum group Nervous System Diseases Finding Abnormality of the nervous system 5 11
C0424503 Dysmorphic facies phenotype Finding Abnormality of head or neck 3 106