Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0240063 Coloboma of iris disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality Abnormality of the eye 146
C0024433 Macrostomia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 144
C0266551 Congenital coloboma of iris disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity 144
C0575158 Kyphoscoliosis deformity of spine disease Musculoskeletal Diseases Anatomical Abnormality disease of anatomical entity Abnormality of the skeletal system 141
C0345392 Congenital kyphoscoliosis disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 136
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 135
C0158731 Congenital pectus carinatum disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases; Musculoskeletal Diseases Congenital Abnormality Abnormality of the skeletal system 128
C0266544 Microcornea disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality disease of anatomical entity Abnormality of the eye 125
C0266483 Pachygyria disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality genetic disease; disease of anatomical entity; syndrome; disease of mental health; physical disorder Abnormality of the nervous system 120
C0410528 Skeletal dysplasia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality 114
C0024421 Macroglossia disease Stomatognathic Diseases Disease or Syndrome Abnormality of head or neck; Abnormality of the musculature 111
C0023787 Lipodystrophy disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome genetic disease; disease of metabolism; disease of anatomical entity Abnormality of connective tissue 104
C0025995 Micromelia disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases Congenital Abnormality Abnormality of limbs; Abnormality of the skeletal system 102
C0221217 Neck webbing disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Skin and Connective Tissue Diseases Congenital Abnormality Abnormality of head or neck 78
C1280433 Lipoatrophy disease Nutritional and Metabolic Diseases; Skin and Connective Tissue Diseases Disease or Syndrome Abnormality of connective tissue 77
C0080174 Spina Bifida Occulta disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Nervous System Diseases Congenital Abnormality physical disorder Abnormality of the nervous system 71
C0149630 Bicuspid aortic valve disease Cardiovascular Diseases Congenital Abnormality disease of anatomical entity Abnormality of the cardiovascular system 71
C4021813 Oral cleft disease Congenital Abnormality Abnormality of head or neck 61
C0973461 Dysphasia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Disease or Syndrome Abnormality of the nervous system 59
C0521620 Dilatation of ureter disease Female Urogenital Diseases and Pregnancy Complications; Male Urogenital Diseases Anatomical Abnormality Abnormality of the genitourinary system 58
C0003537 Aphasia disease Pathological Conditions, Signs and Symptoms; Nervous System Diseases Mental or Behavioral Dysfunction disease of mental health Abnormality of the nervous system 56
C3540764 Coloboma of the Retina disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Disease or Syndrome Abnormality of the eye 54
C0240896 Fundus coloboma disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Congenital Abnormality Abnormality of the eye 53
C0003507 Aortic Valve Stenosis disease Cardiovascular Diseases Disease or Syndrome disease of anatomical entity Abnormality of the cardiovascular system 47
C0007787 Transient Ischemic Attack disease Nervous System Diseases; Cardiovascular Diseases Disease or Syndrome disease of anatomical entity 44