Source: INFERRED

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 135
C0158465 Acquired cubitus valgus disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system 35
C0158486 Acquired genu recurvatum phenotype Musculoskeletal Diseases Acquired Abnormality 23
C0240063 Coloboma of iris disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality Abnormality of the eye 146
C0575158 Kyphoscoliosis deformity of spine disease Musculoskeletal Diseases Anatomical Abnormality disease of anatomical entity Abnormality of the skeletal system 141
C0576093 Knee joint valgus deformity disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 115
C0040427 Tooth Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck 36
C0238397 Pulmonary artery stenosis disease Cardiovascular Diseases Anatomical Abnormality Abnormality of the respiratory system; Abnormality of the cardiovascular system 35
C4021242 Hypoplasia of the zygomatic bone disease Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 29
C4023397 Abnormal hair quantity disease Anatomical Abnormality Abnormality of the integument 29
C0546964 Genu recurvatum disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 28
C4025749 Abnormality of the spleen disease Anatomical Abnormality Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system 26
C0005937 Bone Cysts disease Neoplasms; Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 25
C4024890 Excessive wrinkled skin phenotype Anatomical Abnormality Abnormality of the integument 25
C4025835 Abnormal nasolacrimal system morphology disease Anatomical Abnormality Abnormality of head or neck 23
C4023385 Aplasia of the semicircular canal disease Anatomical Abnormality Abnormality of the ear 16
C4025662 Abnormality of the ulna phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 14
C2674737 Abnormality of finger phenotype Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 7
C2674738 Abnormality of toe group Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 6
C4023401 Abnormality of hair density disease Anatomical Abnormality Abnormality of the integument 4
C4476553 Atrial septal dilatation phenotype Anatomical Abnormality Abnormality of the cardiovascular system 3
C4025680 Abnormal cartilage morphology phenotype Anatomical Abnormality Abnormality of the skeletal system 2
C0544886 Somatic mutation phenotype Cell or Molecular Dysfunction 151
C0013336 Dwarfism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Endocrine System Diseases Congenital Abnormality genetic disease Growth abnormality 1039
C0010417 Cryptorchidism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Male Urogenital Diseases; Endocrine System Diseases Congenital Abnormality physical disorder Abnormality of the genitourinary system 596