Source: ALL

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes Num. SNPs
C0028259 Nodule phenotype Acquired Abnormality 278 19
C0600033 Acquired Kyphoscoliosis disease Musculoskeletal Diseases Acquired Abnormality 149 2
C0242621 Isochromosomes phenotype Pathological Conditions, Signs and Symptoms Acquired Abnormality 75 2
C0158465 Acquired cubitus valgus disease Acquired Abnormality Abnormality of limbs; Abnormality of the skeletal system 35 1
C0158486 Acquired genu recurvatum phenotype Musculoskeletal Diseases Acquired Abnormality 23 0
C0033844 Pseudotumor disease Pathological Conditions, Signs and Symptoms Acquired Abnormality 11 0
C0032584 polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 390 18
C0575158 Kyphoscoliosis deformity of spine disease Musculoskeletal Diseases Anatomical Abnormality disease of anatomical entity Abnormality of the skeletal system 155 17
C0240063 Coloboma of iris disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Eye Diseases Anatomical Abnormality Abnormality of the eye 153 12
C0576093 Knee joint valgus deformity disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 117 5
C0009376 Colonic Polyps phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality 69 8
C0040427 Tooth Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Stomatognathic Diseases Anatomical Abnormality Abnormality of head or neck 54 2
C0238397 Pulmonary artery stenosis disease Cardiovascular Diseases Anatomical Abnormality Abnormality of the respiratory system; Abnormality of the cardiovascular system 36 2
C0005937 Bone Cysts disease Neoplasms; Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 35 4
C0546964 Genu recurvatum disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 32 4
C0398368 Lymphatic Abnormalities group Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Hemic and Lymphatic Diseases Anatomical Abnormality 30 6
C4021242 Hypoplasia of the zygomatic bone disease Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system 29 0
C4023397 Abnormal hair quantity disease Anatomical Abnormality Abnormality of the integument 29 0
C4025749 Abnormality of the spleen disease Anatomical Abnormality Abnormality of the digestive system; Abnormality of the immune system; Abnormality of the cardiovascular system 26 1
C4024890 Excessive wrinkled skin phenotype Anatomical Abnormality Abnormality of the integument 25 0
C4025835 Abnormal nasolacrimal system morphology disease Anatomical Abnormality Abnormality of head or neck 23 0
C0597984 Biliary stricture disease Digestive System Diseases Anatomical Abnormality 17 0
C4023385 Aplasia of the semicircular canal disease Anatomical Abnormality Abnormality of the ear 16 1
C0206740 Calcifying Odontogenic Cyst disease Neoplasms; Musculoskeletal Diseases; Stomatognathic Diseases Anatomical Abnormality 15 1
C4025662 Abnormality of the ulna phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 14 0