Source: HPO

CUI Disease Type Disease Class Semantic type DO Class HPO Term Num. genes
C0086543 Cataract disease Eye Diseases Acquired Abnormality genetic disease; disease of anatomical entity Abnormality of the eye 555
C0158486 Acquired genu recurvatum phenotype Musculoskeletal Diseases Acquired Abnormality 23
C0022821 Kyphosis deformity of spine phenotype Musculoskeletal Diseases Anatomical Abnormality Abnormality of the skeletal system 244
C4021800 Abnormality of dental enamel group Anatomical Abnormality Abnormality of head or neck; Abnormality of the skeletal system; Abnormality of connective tissue 90
C0009080 Clubbed Fingers disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 85
C0853087 Nail abnormality phenotype Pathological Conditions, Signs and Symptoms Anatomical Abnormality Abnormality of the integument 56
C0018536 Hallux Valgus disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 43
C4021785 Abnormality of the metacarpal bones disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 39
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
C0546964 Genu recurvatum disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 23
C0281842 Abnormality of the fallopian tube phenotype Anatomical Abnormality Abnormality of the genitourinary system 22
C4082144 Metatarsal Valgus disease Musculoskeletal Diseases Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 22
C4023986 Broad phalanx of the toes phenotype Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 17
C0012811 Colon diverticulum anatomic structure phenotype Pathological Conditions, Signs and Symptoms; Digestive System Diseases Anatomical Abnormality Abnormality of the digestive system 16
C4022020 Mucosal telangiectasiae disease Cardiovascular Diseases Anatomical Abnormality Abnormality of the integument; Abnormality of the cardiovascular system 16
C4021744 Abnormality of the wrist disease Anatomical Abnormality Abnormality of limbs; Abnormality of the skeletal system 10
C4022024 Upper limb asymmetry disease Anatomical Abnormality Abnormality of limbs; Growth abnormality 9
C4025896 Abnormality of the penis disease Anatomical Abnormality Abnormality of the genitourinary system 8
C4025715 Abnormal large intestine morphology disease Anatomical Abnormality Abnormality of the digestive system 2
C4025822 Abnormality of the parathyroid gland disease Anatomical Abnormality Abnormality of the endocrine 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 1038
C0025990 Micrognathism disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck; Abnormality of the skeletal system 550
C0240635 Byzanthine arch palate disease Congenital, Hereditary, and Neonatal Diseases and Abnormalities; Musculoskeletal Diseases; Nervous System Diseases; Stomatognathic Diseases Congenital Abnormality Abnormality of head or neck 469